#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
ACE	1636	genome.wustl.edu	37	17	61564065	61564065	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:61564065G>A	ENST00000290866.4	+	14	2230	c.2206G>A	c.(2206-2208)Gag>Aag	p.E736K	ACE_ENST00000428043.1_Missense_Mutation_p.E736K|ACE_ENST00000577647.1_Missense_Mutation_p.E162K|ACE_ENST00000290863.6_Missense_Mutation_p.E162K|ACE_ENST00000421982.2_Missense_Mutation_p.E46K|ACE_ENST00000490216.2_Missense_Mutation_p.E162K|ACE_ENST00000413513.3_Missense_Mutation_p.E162K	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	736	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCCTGCCCAGGAGCTGGAGGA	0.582																																																	0													70.0	64.0	66.0					17																	61564065		2203	4300	6503	SO:0001583	missense	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2206G>A	17.37:g.61564065G>A	ENSP00000290866:p.Glu736Lys		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.E736K	ENST00000290866.4	37	c.2206	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591132	0.28357	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.52	5.03	5.03	0.67393	.	0.143335	0.64402	D	0.000009	T	0.20577	0.0495	L	0.28115	0.83	0.46701	D	0.999168	B;B;B;P	0.40534	0.203;0.041;0.005;0.72	B;B;B;B	0.39805	0.061;0.124;0.025;0.31	T	0.02860	-1.1101	10	0.02654	T	1	-32.7914	15.3904	0.74739	0.0:0.0:1.0:0.0	.	46;162;162;736	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	K	736;736;162;162;46	ENSP00000290866:E736K;ENSP00000397593:E736K;ENSP00000290863:E162K;ENSP00000392247:E162K;ENSP00000387760:E46K	ENSP00000290863:E162K	E	+	1	0	ACE	58917797	1.000000	0.71417	0.968000	0.41197	0.353000	0.29299	4.435000	0.59941	2.622000	0.88805	0.561000	0.74099	GAG	ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.582	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	-	0.00	37	0	G			61564065	+1	tier1	-	no_errors	ENST00000290866	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.963	A
ACOXL	55289	genome.wustl.edu	37	2	111666433	111666433	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:111666433C>T	ENST00000389811.4	+	11	1080	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ACOXL_ENST00000439055.1_Missense_Mutation_p.R286W			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	286					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ACAGACCCTGCGGCTGATGCC	0.547																																																	0													103.0	97.0	99.0					2																	111666433		2203	4300	6503	SO:0001583	missense	0				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.856C>T	2.37:g.111666433C>T	ENSP00000374461:p.Arg286Trp		A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	p.R286W	ENST00000389811.4	37	c.856		2	.	.	.	.	.	.	.	.	.	.	c	5.224	0.226900	0.09916	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074	T;T;T	0.72725	-0.68;-0.68;-0.68	5.15	0.937	0.19494	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.437841	0.18864	N	0.129039	T	0.81692	0.4876	M	0.93150	3.385	0.32298	N	0.565398	B;B;P	0.47962	0.445;0.391;0.903	B;B;P	0.53809	0.11;0.046;0.735	T	0.81865	-0.0736	10	0.87932	D	0	-23.9328	7.4993	0.27509	0.2519:0.5999:0.0:0.1482	.	286;286;286	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	W	286;286;137;124	ENSP00000374461:R286W;ENSP00000407761:R286W;ENSP00000387832:R124W	ENSP00000374461:R286W	R	+	1	2	ACOXL	111382904	0.047000	0.20315	0.014000	0.15608	0.190000	0.23558	0.142000	0.16096	-0.413000	0.07507	-0.810000	0.03169	CGG	ACOXL	-	pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000153093		0.547	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	ACOXL	HGNC	protein_coding	OTTHUMT00000254024.2		0.00	64	0	C	NM_018308		111666433	+1			no_errors	ENST00000439055	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.052	T
AFAP1L2	84632	genome.wustl.edu	37	10	116073779	116073779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:116073779G>A	ENST00000304129.4	-	7	672	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	AFAP1L2_ENST00000369271.3_Nonsense_Mutation_p.Q215*|AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.Q268*			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	215	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		ACGTCCAGCTGAGGGCTGTGG	0.552																																																	0													133.0	96.0	109.0					10																	116073779		2203	4300	6503	SO:0001587	stop_gained	0			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.643C>T	10.37:g.116073779G>A	ENSP00000303042:p.Gln215*		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q268*	ENST00000304129.4	37	c.802	CCDS31286.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.153547	0.94645	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	.	.	.	4.73	4.73	0.59995	.	0.249723	0.35013	N	0.003508	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-16.6238	17.7015	0.88296	0.0:0.0:1.0:0.0	.	.	.	.	X	215;215;242;233;268;233	.	ENSP00000303042:Q215X	Q	-	1	0	AFAP1L2	116063769	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	9.828000	0.99408	2.169000	0.68431	0.462000	0.41574	CAG	AFAP1L2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000169129		0.552	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1	-	0.00	79	0	G	NM_032550		116073779	-1	tier1	-	no_errors	ENST00000545353	ensembl	human	known	74_37	nonsense	24.59	46	15	SNP	1.000	A
AFF1	4299	genome.wustl.edu	37	4	88029349	88029349	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:88029349A>G	ENST00000307808.6	+	10	1814	c.1394A>G	c.(1393-1395)cAt>cGt	p.H465R	AFF1_ENST00000544085.1_Missense_Mutation_p.H103R|AFF1_ENST00000395146.4_Missense_Mutation_p.H472R	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	465					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCATCAGCACATTCCAGCAGT	0.483																																																	0													118.0	106.0	110.0					4																	88029349		2203	4300	6503	SO:0001583	missense	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1394A>G	4.37:g.88029349A>G	ENSP00000305689:p.His465Arg		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.H472R	ENST00000307808.6	37	c.1415	CCDS3616.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.04|17.04	3.287903|3.287903	0.59976|0.59976	.|.	.|.	ENSG00000172493|ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970|ENST00000541943	T;T;T;T;T|.	0.61859|.	0.07;0.07;0.07;0.07;0.07|.	5.5|5.5	4.32|4.32	0.51571|0.51571	.|.	0.347798|.	0.29198|.	N|.	0.012857|.	T|T	0.61677|0.61677	0.2366|0.2366	M|M	0.63428|0.63428	1.95|1.95	0.53005|0.53005	D|D	0.999961|0.999961	B;B;B|.	0.33477|.	0.413;0.413;0.413|.	B;B;B|.	0.36186|.	0.219;0.219;0.219|.	T|T	0.56426|0.56426	-0.7981|-0.7981	10|6	0.16896|0.22109	T|T	0.51|0.4	-16.6264|-16.6264	11.4184|11.4184	0.49967|0.49967	0.9293:0.0:0.0707:0.0|0.9293:0.0:0.0707:0.0	.|.	472;465;465|.	E9PBM3;Q14C88;P51825|.	.;.;AFF1_HUMAN|.	R|V	472;465;103;103;156|125	ENSP00000378578:H472R;ENSP00000305689:H465R;ENSP00000424766:H103R;ENSP00000440843:H103R;ENSP00000424881:H156R|.	ENSP00000305689:H465R|ENSP00000446349:I125V	H|I	+|+	2|1	0|0	AFF1|AFF1	88248373|88248373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	2.482000|2.482000	0.45224|0.45224	1.027000|1.027000	0.39758|0.39758	0.533000|0.533000	0.62120|0.62120	CAT|ATT	AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.483	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	-	0.00	60	0	A	NM_005935		88029349	+1	tier1	-	no_errors	ENST00000395146	ensembl	human	known	74_37	missense	60.00	32	48	SNP	1.000	G
AKT1	207	genome.wustl.edu	37	14	105238734	105238734	+	Missense_Mutation	SNP	C	C	T	rs146483593		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:105238734C>T	ENST00000554581.1	-	11	2708	c.1228G>A	c.(1228-1230)Ggt>Agt	p.G410S	AKT1_ENST00000554848.1_Missense_Mutation_p.G410S|AKT1_ENST00000407796.2_Missense_Mutation_p.G410S|AKT1_ENST00000555528.1_Missense_Mutation_p.G410S|AKT1_ENST00000555458.1_Missense_Mutation_p.G105S|AKT1_ENST00000349310.3_Missense_Mutation_p.G410S|AKT1_ENST00000402615.2_Missense_Mutation_p.G410S|AKT1_ENST00000554192.1_Missense_Mutation_p.G97S|AKT1_ENST00000544168.1_Missense_Mutation_p.G348S|RP11-982M15.2_ENST00000557223.1_RNA|AKT1_ENST00000554585.1_5'UTR			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	410	AGC-kinase C-terminal.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CACACGATACCGGCAAAGAAG	0.617		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0									SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	142.0	99.0	114.0		1228,1228,1228	-2.1	1.0	14	dbSNP_134	114	0,8600		0,0,4300	no	missense,missense,missense	AKT1	NM_001014431.1,NM_001014432.1,NM_005163.2	56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	410/481,410/481,410/481	105238734	1,13005	2203	4300	6503	SO:0001583	missense	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.1228G>A	14.37:g.105238734C>T	ENSP00000451828:p.Gly410Ser		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.G410S	ENST00000554581.1	37	c.1228	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	c	6.569	0.473355	0.12461	2.27E-4	0.0	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000555458;ENST00000554192;ENST00000544168;ENST00000554848	T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	3.33	-2.13	0.07144	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.181075	0.47852	N	0.000201	T	0.26521	0.0648	N	0.16833	0.445	0.40163	D	0.977085	B	0.02656	0.0	B	0.04013	0.001	T	0.39742	-0.9599	10	0.02654	T	1	.	11.2415	0.48972	0.0:0.7859:0.0:0.2141	.	410	P31749	AKT1_HUMAN	S	410;410;410;410;410;105;97;348;410	ENSP00000451828:G410S;ENSP00000384293:G410S;ENSP00000270202:G410S;ENSP00000385326:G410S;ENSP00000450688:G410S;ENSP00000451470:G105S;ENSP00000450681:G97S;ENSP00000443897:G348S;ENSP00000451166:G410S	ENSP00000270202:G410S	G	-	1	0	AKT1	104309779	1.000000	0.71417	0.988000	0.46212	0.823000	0.46562	1.117000	0.31234	-0.297000	0.08934	0.401000	0.26515	GGT	AKT1	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000142208		0.617	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	-	0.00	71	0	C	NM_005163		105238734	-1	tier1	rs146483593	no_errors	ENST00000349310	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
ALDH1B1	219	genome.wustl.edu	37	9	38396393	38396393	+	Silent	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:38396393C>G	ENST00000377698.3	+	2	801	c.648C>G	c.(646-648)ctC>ctG	p.L216L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	216					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AGACCCCCCTCTCTGCCCTGT	0.607																																																	0													65.0	65.0	65.0					9																	38396393		2203	4300	6503	SO:0001819	synonymous_variant	0			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.648C>G	9.37:g.38396393C>G			B2R8F0|Q8WX76|Q9BV45	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.L216	ENST00000377698.3	37	c.648	CCDS6615.1	9																																																																																			ALDH1B1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000137124		0.607	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1B1	HGNC	protein_coding	OTTHUMT00000052492.1	-	0.00	56	0	C			38396393	+1	tier1	-	no_errors	ENST00000377698	ensembl	human	known	74_37	silent	18.52	20	5	SNP	0.014	G
AMER1	139285	genome.wustl.edu	37	X	63410562	63410562	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:63410562G>T	ENST00000330258.3	-	2	2877	c.2605C>A	c.(2605-2607)Ctc>Atc	p.L869I	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	869					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TATCGAGGGAGGCTGCTCACA	0.577																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											43.0	46.0	45.0					X																	63410562		2120	4202	6322	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2605C>A	X.37:g.63410562G>T	ENSP00000329117:p.Leu869Ile		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.L869I	ENST00000330258.3	37	c.2605	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803814	0.70682	.	.	ENSG00000184675	ENST00000330258	T	0.69561	-0.41	4.79	4.79	0.61399	.	.	.	.	.	T	0.69433	0.3110	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.68394	-0.5420	8	.	.	.	-7.1853	15.8198	0.78631	0.0:0.0:1.0:0.0	.	869	Q5JTC6	F123B_HUMAN	I	869	ENSP00000329117:L869I	.	L	-	1	0	FAM123B	63327287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.675000	0.91195	2.385000	0.81259	0.529000	0.55759	CTC	AMER1	-	NULL	ENSG00000184675		0.577	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER1	HGNC	protein_coding	OTTHUMT00000316584.1	-	0.00	49	0	G	NM_152424		63410562	-1	tier1	-	no_errors	ENST00000330258	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	T
AP4E1	23431	genome.wustl.edu	37	15	51260514	51260514	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:51260514G>C	ENST00000261842.5	+	15	2012	c.1906G>C	c.(1906-1908)Ggt>Cgt	p.G636R	AP4E1_ENST00000560508.1_Missense_Mutation_p.G561R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	636					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACTCAGTCAGGGTGCAGCGCC	0.373																																																	0													51.0	48.0	49.0					15																	51260514		2196	4294	6490	SO:0001583	missense	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1906G>C	15.37:g.51260514G>C	ENSP00000261842:p.Gly636Arg		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.G636R	ENST00000261842.5	37	c.1906	CCDS32240.1	15	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369796	0.82573	.	.	ENSG00000081014	ENST00000261842	T	0.60672	0.17	4.71	4.71	0.59529	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84093	0.0391	10	0.59425	D	0.04	-10.3537	16.6719	0.85269	0.0:0.0:1.0:0.0	.	636	Q9UPM8	AP4E1_HUMAN	R	636	ENSP00000261842:G636R	ENSP00000261842:G636R	G	+	1	0	AP4E1	49047806	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.220000	0.89772	2.157000	0.67596	0.462000	0.41574	GGT	AP4E1	-	superfamily_ARM-type_fold,pirsf_AP4_complex_esu	ENSG00000081014		0.373	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1	-	0.00	143	0	G			51260514	+1	tier1	-	no_errors	ENST00000261842	ensembl	human	known	74_37	missense	31.78	88	41	SNP	0.999	C
ARHGAP30	257106	genome.wustl.edu	37	1	161024465	161024465	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:161024465G>A	ENST00000368013.3	-	4	696	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R126C|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	126	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTGACCAAGCGCTCAGGTTCC	0.522																																																	0													138.0	138.0	138.0					1																	161024465		2203	4300	6503	SO:0001583	missense	0			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.376C>T	1.37:g.161024465G>A	ENSP00000356992:p.Arg126Cys		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R126C	ENST00000368013.3	37	c.376	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782403	0.90282	.	.	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.23147	1.92;1.92	5.87	5.87	0.94306	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.68014	-0.5521	10	0.72032	D	0.01	.	17.7726	0.88497	0.0:0.0:1.0:0.0	.	126;126	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	C	126	ENSP00000356995:R126C;ENSP00000356992:R126C	ENSP00000356992:R126C	R	-	1	0	ARHGAP30	159291089	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.469000	0.60169	2.788000	0.95919	0.650000	0.86243	CGC	ARHGAP30	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000186517		0.522	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	-	0.00	53	0	G	NM_181720		161024465	-1	tier1	-	no_errors	ENST00000368013	ensembl	human	known	74_37	missense	15.87	53	10	SNP	1.000	A
ARID1B	57492	genome.wustl.edu	37	6	157405821	157405821	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:157405821T>C	ENST00000350026.5	+	5	2025	c.2024T>C	c.(2023-2025)cTc>cCc	p.L675P	ARID1B_ENST00000275248.4_Missense_Mutation_p.L617P|ARID1B_ENST00000346085.5_Missense_Mutation_p.L688P|ARID1B_ENST00000367148.1_Missense_Mutation_p.L675P	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	675					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATTGATGACCTCCCCACGGGA	0.498																																																	0													110.0	106.0	107.0					6																	157405821		2203	4300	6503	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2024T>C	6.37:g.157405821T>C	ENSP00000055163:p.Leu675Pro		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L675P	ENST00000350026.5	37	c.2024	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431777	0.83776	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.39592	3.2;3.19;3.91;4.25;3.76;1.07	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.51719	0.1691	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.56998	-0.7886	10	0.87932	D	0	.	15.8865	0.79255	0.0:0.0:0.0:1.0	.	59;675;688;617	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	P	688;675;675;617;96;59;174;97	ENSP00000344546:L688P;ENSP00000055163:L675P;ENSP00000356116:L675P;ENSP00000275248:L617P;ENSP00000412835:L174P;ENSP00000313006:L97P	ENSP00000275248:L617P	L	+	2	0	ARID1B	157447513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.143000	0.66587	0.528000	0.53228	CTC	ARID1B	-	NULL	ENSG00000049618		0.498	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1		0.00	47	0	T	NM_020732		157405821	+1			no_errors	ENST00000367148	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	C
ASNA1	439	genome.wustl.edu	37	19	12856259	12856259	+	Silent	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:12856259C>T	ENST00000591090.1	+	4	480	c.378C>T	c.(376-378)agC>agT	p.S126S	ASNA1_ENST00000357332.3_Silent_p.S126S					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						ACATGCTGAGCATGGGCAAGA	0.607																																																	0													77.0	66.0	70.0					19																	12856259		2203	4300	6503	SO:0001819	synonymous_variant	0			U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.378C>T	19.37:g.12856259C>T				Silent	SNP	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3	p.S126	ENST00000591090.1	37	c.378	CCDS32920.1	19																																																																																			ASNA1	-	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3	ENSG00000198356		0.607	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ASNA1	HGNC	protein_coding	OTTHUMT00000450921.1	-	0.00	50	0	C	NM_004317		12856259	+1	tier1	-	no_errors	ENST00000357332	ensembl	human	known	74_37	silent	37.70	38	23	SNP	1.000	T
ATP10A	57194	genome.wustl.edu	37	15	25961902	25961902	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:25961902G>A	ENST00000356865.6	-	9	1862	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	584					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATCCGGGGACGTGACGACGAC	0.592																																																	0													148.0	133.0	138.0					15																	25961902		2203	4300	6503	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1751C>T	15.37:g.25961902G>A	ENSP00000349325:p.Thr584Met		Q4G0S9|Q969I4	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.T584M	ENST00000356865.6	37	c.1751	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026546	0.75390	.	.	ENSG00000206190	ENST00000356865	T	0.11604	2.76	5.38	4.44	0.53790	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.111406	0.64402	D	0.000008	T	0.29321	0.0730	M	0.62723	1.935	0.43073	D	0.994716	D	0.76494	0.999	D	0.66716	0.946	T	0.03739	-1.1008	10	0.72032	D	0.01	-20.7898	15.185	0.72993	0.0:0.0:0.858:0.142	.	584	O60312	AT10A_HUMAN	M	584	ENSP00000349325:T584M	ENSP00000349325:T584M	T	-	2	0	ATP10A	23512995	1.000000	0.71417	0.843000	0.33291	0.662000	0.39071	9.539000	0.98076	1.201000	0.43203	0.650000	0.86243	ACG	ATP10A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.592	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0.00	93	0	G	NM_024490		25961902	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	15.62	54	10	SNP	1.000	A
ATP10A	57194	genome.wustl.edu	37	15	25966869	25966869	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:25966869G>A	ENST00000356865.6	-	7	1409	c.1298C>T	c.(1297-1299)aCa>aTa	p.T433I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	433					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTTATTCTCTGTCAAAGTGCC	0.483																																																	0													130.0	116.0	121.0					15																	25966869		2203	4300	6503	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1298C>T	15.37:g.25966869G>A	ENSP00000349325:p.Thr433Ile		Q4G0S9|Q969I4	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.T433I	ENST00000356865.6	37	c.1298	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019971	0.54576	.	.	ENSG00000206190	ENST00000356865	T	0.73789	-0.78	5.53	4.61	0.57282	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.89478	3.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90793	0.4688	10	0.87932	D	0	-19.9758	16.3483	0.83171	0.0:0.1322:0.8678:0.0	.	433	O60312	AT10A_HUMAN	I	433	ENSP00000349325:T433I	ENSP00000349325:T433I	T	-	2	0	ATP10A	23517962	1.000000	0.71417	0.505000	0.27651	0.257000	0.26127	9.530000	0.98051	1.314000	0.45095	0.549000	0.68633	ACA	ATP10A	-	superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000206190		0.483	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0.00	93	0	G	NM_024490		25966869	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	5.00	95	5	SNP	0.997	A
ATP7B	540	genome.wustl.edu	37	13	52549268	52549268	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr13:52549268C>T	ENST00000242839.4	-	2	244	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	ATP7B_ENST00000418097.2_Missense_Mutation_p.E30K|ATP7B_ENST00000344297.5_Missense_Mutation_p.E30K|ATP7B_ENST00000400370.3_Missense_Mutation_p.E30K|ATP7B_ENST00000400366.3_Missense_Mutation_p.E30K|ATP7B_ENST00000542656.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.E30K|ATP7B_ENST00000482841.1_5'Flank	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	30					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATTGCTGGTTCCCAGGCACGG	0.428									Wilson disease																																								0													90.0	88.0	89.0					13																	52549268		1894	4109	6003	SO:0001583	missense	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.88G>A	13.37:g.52549268C>T	ENSP00000242839:p.Glu30Lys		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.E30K	ENST00000242839.4	37	c.88	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	c	14.15	2.448385	0.43429	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D	0.97256	-3.88;-3.92;-4.02;-3.83;-4.31;-3.9	5.1	4.26	0.50523	.	0.717895	0.14560	N	0.312138	D	0.89781	0.6814	N	0.12182	0.205	0.22552	N	0.998995	B;B;B;P;B;B;B	0.35011	0.091;0.013;0.119;0.48;0.147;0.175;0.009	B;B;B;B;B;B;B	0.34489	0.068;0.004;0.061;0.184;0.027;0.135;0.006	T	0.82090	-0.0629	10	0.23891	T	0.37	-4.2412	1.3439	0.02160	0.1575:0.4564:0.152:0.2341	.	30;30;30;30;30;30;30	E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	K	30	ENSP00000242839:E30K;ENSP00000383217:E30K;ENSP00000342559:E30K;ENSP00000416738:E30K;ENSP00000383221:E30K;ENSP00000393343:E30K	ENSP00000242839:E30K	E	-	1	0	ATP7B	51447269	0.148000	0.22702	0.959000	0.39883	0.875000	0.50365	0.094000	0.15107	1.400000	0.46741	0.651000	0.88453	GAA	ATP7B	-	NULL	ENSG00000123191		0.428	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	-	0.00	70	0	C	NM_000053		52549268	-1	tier1	-	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.183	T
ATP8B1	5205	genome.wustl.edu	37	18	55371857	55371857	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr18:55371857A>G	ENST00000283684.4	-	3	322	c.323T>C	c.(322-324)aTa>aCa	p.I108T	ATP8B1_ENST00000536015.1_Missense_Mutation_p.I108T|ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	108					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ATTCATTGGTATAAAGGTAAA	0.313																																																	0													149.0	154.0	152.0					18																	55371857		2202	4300	6502	SO:0001583	missense	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.323T>C	18.37:g.55371857A>G	ENSP00000283684:p.Ile108Thr		Q9BTP8	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.I108T	ENST00000283684.4	37	c.323	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328329	0.60743	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.46451	0.87;0.87	6.04	6.04	0.98038	.	0.247223	0.34435	N	0.003975	T	0.48768	0.1518	M	0.78456	2.415	0.41589	D	0.988782	B	0.06786	0.001	B	0.08055	0.003	T	0.48811	-0.9002	10	0.87932	D	0	.	16.2371	0.82381	1.0:0.0:0.0:0.0	.	108	O43520	AT8B1_HUMAN	T	108	ENSP00000283684:I108T;ENSP00000445359:I108T	ENSP00000283684:I108T	I	-	2	0	ATP8B1	53522855	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.289000	0.96061	2.317000	0.78254	0.523000	0.50628	ATA	ATP8B1	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000081923		0.313	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	-	0.00	73	0	A	NM_005603		55371857	-1	tier1	-	no_errors	ENST00000283684	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	G
ATRX	546	genome.wustl.edu	37	X	76855037	76855037	+	Silent	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:76855037T>C	ENST00000373344.5	-	25	6013	c.5799A>G	c.(5797-5799)aaA>aaG	p.K1933K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.K1895K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1933	Poly-Lys.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTTTTTCCCTTTTTTCTTCT	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											285.0	268.0	274.0					X																	76855037		2203	4295	6498	SO:0001819	synonymous_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5799A>G	X.37:g.76855037T>C			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1933	ENST00000373344.5	37	c.5799	CCDS14434.1	X																																																																																			ATRX	-	superfamily_P-loop_NTPase	ENSG00000085224		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2		0.00	33	0	T	NM_000489		76855037	-1			no_errors	ENST00000373344	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.972	C
BAIAP2L1	55971	genome.wustl.edu	37	7	97939821	97939821	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:97939821C>A	ENST00000005260.8	-	9	1106	c.891G>T	c.(889-891)ttG>ttT	p.L297F	BAIAP2L1_ENST00000462558.1_5'UTR|RP4-607J23.2_ENST00000609873.1_RNA|RP4-607J23.2_ENST00000608882.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	297					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			ACATATCGATCAAGGGACTGG	0.418																																																	0													91.0	94.0	93.0					7																	97939821		2203	4300	6503	SO:0001583	missense	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.891G>T	7.37:g.97939821C>A	ENSP00000005260:p.Leu297Phe		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.L297F	ENST00000005260.8	37	c.891	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993592	0.74703	.	.	ENSG00000006453	ENST00000005260	T	0.28666	1.6	5.5	2.7	0.31948	.	0.069152	0.56097	D	0.000022	T	0.36717	0.0977	M	0.74258	2.255	0.49483	D	0.999793	D	0.61080	0.989	P	0.56474	0.799	T	0.49908	-0.8889	10	0.09338	T	0.73	-15.0727	2.9917	0.05986	0.131:0.536:0.1277:0.2053	.	297	Q9UHR4	BI2L1_HUMAN	F	297	ENSP00000005260:L297F	ENSP00000005260:L297F	L	-	3	2	AC093799.1	97777757	0.706000	0.27856	1.000000	0.80357	0.990000	0.78478	-0.209000	0.09358	1.328000	0.45358	0.655000	0.94253	TTG	BAIAP2L1	-	NULL	ENSG00000006453		0.418	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	HGNC	protein_coding	OTTHUMT00000334681.1	-	0.00	94	0	C	NM_018842		97939821	-1	tier1	-	no_errors	ENST00000005260	ensembl	human	known	74_37	missense	5.56	136	8	SNP	1.000	A
BNC1	646	genome.wustl.edu	37	15	83932301	83932301	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:83932301G>A	ENST00000345382.2	-	4	1787	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	BNC1_ENST00000569704.1_Missense_Mutation_p.P561S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	568					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACCTGTAGGGGCATGTCTTCA	0.483																																																	0													210.0	197.0	201.0					15																	83932301		2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1702C>T	15.37:g.83932301G>A	ENSP00000307041:p.Pro568Ser		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P568S	ENST00000345382.2	37	c.1702	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354965	0.24512	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.43294	0.95	5.14	3.26	0.37387	.	0.454975	0.24323	N	0.039525	T	0.36717	0.0977	L	0.50333	1.59	0.26566	N	0.973655	P;B	0.49559	0.925;0.008	P;B	0.47075	0.536;0.003	T	0.24333	-1.0163	10	0.05833	T	0.94	-19.1979	10.6747	0.45778	0.0714:0.1325:0.7961:0.0	.	561;568	F5GY04;Q01954	.;BNC1_HUMAN	S	568;561	ENSP00000307041:P568S	ENSP00000307041:P568S	P	-	1	0	BNC1	81723305	1.000000	0.71417	0.152000	0.22495	0.968000	0.65278	5.116000	0.64661	0.736000	0.32559	0.655000	0.94253	CCC	BNC1	-	NULL	ENSG00000169594		0.483	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	-	0.00	63	0	G	NM_001717		83932301	-1	tier1	-	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.246	A
BRIP1	83990	genome.wustl.edu	37	17	59885975	59885975	+	Silent	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:59885975A>G	ENST00000259008.2	-	7	1038	c.771T>C	c.(769-771)gcT>gcC	p.A257A	BRIP1_ENST00000577598.1_Silent_p.A257A	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	257	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TAGTAATCTGAGCAATCTGCT	0.443			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													135.0	120.0	125.0					17																	59885975		2203	4300	6503	SO:0001819	synonymous_variant	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.771T>C	17.37:g.59885975A>G			Q3MJE2|Q8NCI5	Silent	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A257	ENST00000259008.2	37	c.771	CCDS11631.1	17																																																																																			BRIP1	-	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000136492		0.443	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	-	0.00	42	0	A	NM_032043		59885975	-1	tier1	-	no_errors	ENST00000259008	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	G
C1QTNF1	114897	genome.wustl.edu	37	17	77016151	77016151	+	5'Flank	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:77016151A>G	ENST00000580454.1	+	0	0				C1QTNF1-AS1_ENST00000577521.1_Missense_Mutation_p.L26P|C1QTNF1_ENST00000578229.1_5'Flank|C1QTNF1-AS1_ENST00000581579.1_Missense_Mutation_p.L26P			Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1						negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGAACGTGGCAGCGCCATCCA	0.562											OREG0024789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001631	upstream_gene_variant	0			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533		17.37:g.77016151A>G	Exception_encountered	1172	Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	NULL	p.L26P	ENST00000580454.1	37	c.77	CCDS11761.1	17	.	.	.	.	.	.	.	.	.	.	A	10.08	1.252386	0.22880	.	.	ENSG00000214112	ENST00000397571	.	.	.	4.23	-1.23	0.09465	.	.	.	.	.	T	0.34019	0.0883	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39722	-0.9600	5	0.87932	D	0	.	2.5781	0.04811	0.4624:0.0:0.1914:0.3462	.	.	.	.	P	26	.	ENSP00000380701:L26P	L	-	2	0	AC073624.1	74527746	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.424000	0.07025	-0.046000	0.13446	0.482000	0.46254	CTG	C1QTNF1-AS1	-	NULL	ENSG00000265096		0.562	C1QTNF1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF1-AS1	HGNC	protein_coding	OTTHUMT00000437395.1	-	0.00	49	0	A	NM_030968		77016151	-1	tier1	-	no_errors	ENST00000581579	ensembl	human	putative	74_37	missense	14.29	30	5	SNP	0.000	G
C1orf74	148304	genome.wustl.edu	37	1	209956409	209956409	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:209956409C>T	ENST00000294811.1	-	2	827	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	191										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		CAGTTGTCATCTCCCTGGTTC	0.502																																																	0													114.0	121.0	118.0					1																	209956409		2203	4300	6503	SO:0001583	missense	0			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.571G>A	1.37:g.209956409C>T	ENSP00000294811:p.Asp191Asn			Missense_Mutation	SNP	NULL	p.D191N	ENST00000294811.1	37	c.571	CCDS1491.1	1	.	.	.	.	.	.	.	.	.	.	C	3.775	-0.046754	0.07407	.	.	ENSG00000162757	ENST00000294811	T	0.42513	0.97	5.27	2.22	0.28083	.	0.477671	0.22924	N	0.053991	T	0.29126	0.0724	L	0.44542	1.39	0.24263	N	0.995274	B	0.10296	0.003	B	0.08055	0.003	T	0.14282	-1.0478	10	0.27082	T	0.32	-24.1906	5.6251	0.17478	0.3253:0.5221:0.0:0.1525	.	191	Q96LT6	CA074_HUMAN	N	191	ENSP00000294811:D191N	ENSP00000294811:D191N	D	-	1	0	C1orf74	208023032	0.001000	0.12720	0.227000	0.23927	0.972000	0.66771	0.548000	0.23314	0.616000	0.30141	-0.140000	0.14226	GAT	C1orf74	-	NULL	ENSG00000162757		0.502	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf74	HGNC	protein_coding	OTTHUMT00000088745.1	-	0.00	85	0	C	NM_152485		209956409	-1	tier1	-	no_errors	ENST00000294811	ensembl	human	known	74_37	missense	21.52	62	17	SNP	0.696	T
C6orf57	135154	genome.wustl.edu	37	6	71289168	71289168	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:71289168G>A	ENST00000370474.3	+	2	140	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_145267.2	NP_660310.2	Q5VUM1	SDHF4_HUMAN	chromosome 6 open reading frame 57	39					innate immune response (GO:0045087)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)				kidney(1)|lung(1)|skin(1)	3						TCTCAAGGAGGAAAGTCTGAA	0.418																																																	0													107.0	106.0	106.0					6																	71289168		2203	4300	6503	SO:0001583	missense	0			BC018085	CCDS4972.1	6q12	2011-12-13			ENSG00000154079	ENSG00000154079			20957	protein-coding gene	gene with protein product							Standard	NM_145267		Approved		uc003pfq.1	Q5VUM1	OTTHUMG00000014992	ENST00000370474.3:c.116G>A	6.37:g.71289168G>A	ENSP00000359505:p.Gly39Glu		E1P532	Missense_Mutation	SNP	pfam_DUF1674	p.G39E	ENST00000370474.3	37	c.116	CCDS4972.1	6	.	.	.	.	.	.	.	.	.	.	G	1.304	-0.604054	0.03717	.	.	ENSG00000154079	ENST00000370474	T	0.28255	1.62	5.82	-0.137	0.13469	.	0.351430	0.31772	N	0.007089	T	0.04407	0.0121	N	0.14661	0.345	0.22819	N	0.998694	B	0.16166	0.016	B	0.15484	0.013	T	0.44697	-0.9311	10	0.09843	T	0.71	0.1593	10.4475	0.44503	0.4679:0.0:0.5321:0.0	.	39	Q5VUM1	CF057_HUMAN	E	39	ENSP00000359505:G39E	ENSP00000359505:G39E	G	+	2	0	C6orf57	71345889	0.994000	0.37717	0.119000	0.21687	0.503000	0.33858	0.342000	0.19926	-0.089000	0.12484	-0.234000	0.12200	GGA	C6orf57	-	NULL	ENSG00000154079		0.418	C6orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf57	HGNC	protein_coding	OTTHUMT00000041140.1	-	0.00	123	0	G	NM_145267		71289168	+1	tier1	-	no_errors	ENST00000370474	ensembl	human	known	74_37	missense	34.29	69	36	SNP	0.300	A
CA1	759	genome.wustl.edu	37	8	86244762	86244762	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:86244762T>A	ENST00000523953.1	-	7	1516	c.470A>T	c.(469-471)aAg>aTg	p.K157M	CA1_ENST00000256119.5_Missense_Mutation_p.K157M|CA1_ENST00000518341.1_5'Flank|CA1_ENST00000542576.1_Missense_Mutation_p.K157M|CA1_ENST00000522389.1_Intron|CA1_ENST00000431316.1_Missense_Mutation_p.K157M|CA1_ENST00000523022.1_Missense_Mutation_p.K157M|CA1_ENST00000432364.2_Missense_Mutation_p.K157M			P00915	CAH1_HUMAN	carbonic anhydrase I	157					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TTTCTGCAGCTTTGGGTTGGC	0.328																																																	0													87.0	80.0	82.0					8																	86244762		2203	4300	6503	SO:0001583	missense	0			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.470A>T	8.37:g.86244762T>A	ENSP00000430656:p.Lys157Met			Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.K157M	ENST00000523953.1	37	c.470	CCDS6237.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.42|16.42	3.119147|3.119147	0.56505|0.56505	.|.	.|.	ENSG00000133742|ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000524324;ENST00000517618;ENST00000519991;ENST00000520663;ENST00000517590|ENST00000521679	T;T;T;T;T;T;T;T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33|.	4.34|4.34	-2.73|-2.73	0.05950|0.05950	Carbonic anhydrase, alpha-class, catalytic domain (4);|.	0.979822|0.979822	0.08430|0.08430	N|N	0.947074|0.947074	T|T	0.21387|0.21387	0.0515|0.0515	L|L	0.33293|0.33293	1|1	0.20403|0.20403	N|N	0.99991|0.99991	B|.	0.29988|.	0.264|.	B|.	0.40741|.	0.339|.	T|T	0.31475|0.31475	-0.9942|-0.9942	10|6	0.62326|.	D|.	0.03|.	-0.9931|-0.9931	0.2182|0.2182	0.00164|0.00164	0.2925:0.2671:0.1675:0.2729|0.2925:0.2671:0.1675:0.2729	.|.	157|.	P00915|.	CAH1_HUMAN|.	M|N	157;157;157;157;157;157;91;157;44;44;157|93	ENSP00000430656:K157M;ENSP00000256119:K157M;ENSP00000392338:K157M;ENSP00000443517:K157M;ENSP00000401551:K157M;ENSP00000429798:K157M;ENSP00000428923:K91M;ENSP00000430861:K157M;ENSP00000430543:K44M;ENSP00000430571:K44M;ENSP00000429843:K157M|.	ENSP00000256119:K157M|.	K|K	-|-	2|3	0|2	CA1|CA1	86432014|86432014	0.000000|0.000000	0.05858|0.05858	0.766000|0.766000	0.31476|0.31476	0.943000|0.943000	0.58893|0.58893	-1.228000|-1.228000	0.02948|0.02948	-0.080000|-0.080000	0.12685|0.12685	0.477000|0.477000	0.44152|0.44152	AAG|AAA	CA1	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000133742		0.328	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA1	HGNC	protein_coding	OTTHUMT00000381067.1	-	0.00	68	0	T	NM_001738		86244762	-1	tier1	-	no_errors	ENST00000256119	ensembl	human	known	74_37	missense	17.28	67	14	SNP	0.432	A
CATSPER1	117144	genome.wustl.edu	37	11	65793203	65793203	+	Silent	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:65793203G>A	ENST00000312106.5	-	1	785	c.648C>T	c.(646-648)ggC>ggT	p.G216G		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	216	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGTGGGGCCAGCCACGGTGGG	0.597																																																	0													82.0	72.0	75.0					11																	65793203		2201	4296	6497	SO:0001819	synonymous_variant	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.648C>T	11.37:g.65793203G>A			Q96P76	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.G216	ENST00000312106.5	37	c.648	CCDS8127.1	11																																																																																			CATSPER1	-	NULL	ENSG00000175294		0.597	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1	-	0.00	89	0	G	NM_053054		65793203	-1	tier1	-	no_errors	ENST00000312106	ensembl	human	known	74_37	silent	5.61	100	6	SNP	0.000	A
CASP1	834	genome.wustl.edu	37	11	104903833	104903833	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:104903833G>T	ENST00000533400.1	-	3	330	c.295C>A	c.(295-297)Ctt>Att	p.L99I	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.L60I|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Intron|CASP1_ENST00000527979.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.L99I|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.L99I	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	99					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TGCATATTAAGGTAATTTCCA	0.363																																					NSCLC(41;1246 1743 4934)												0													91.0	97.0	95.0					11																	104903833		2202	4299	6501	SO:0001583	missense	0			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.295C>A	11.37:g.104903833G>T	ENSP00000433138:p.Leu99Ile		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.L99I	ENST00000533400.1	37	c.295	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	3.736	-0.054631	0.07362	.	.	ENSG00000137752	ENST00000533400;ENST00000436863;ENST00000528974	T;T;T	0.02446	4.99;4.99;4.29	3.04	-2.1	0.07210	.	2.097120	0.03917	U	0.282825	T	0.02380	0.0073	L	0.39633	1.23	0.09310	N	1	B;B;B	0.33022	0.294;0.394;0.044	B;B;B	0.22152	0.038;0.031;0.027	T	0.45056	-0.9287	10	0.21540	T	0.41	.	4.0434	0.09761	0.2427:0.2165:0.5407:0.0	.	99;60;99	B4DKN4;B4DVD8;P29466	.;.;CASP1_HUMAN	I	99;99;60	ENSP00000433138:L99I;ENSP00000410076:L99I;ENSP00000434259:L60I	ENSP00000410076:L99I	L	-	1	0	CASP1	104409043	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.267000	0.02839	-0.332000	0.08489	-0.253000	0.11424	CTT	CASP1	-	pirsf_Caspase_IL-1_beta	ENSG00000137752		0.363	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1	-	0.00	66	0	G	NM_033292		104903833	-1	tier1	-	no_errors	ENST00000436863	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	T
CBLB	868	genome.wustl.edu	37	3	105421182	105421182	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:105421182C>G	ENST00000264122.4	-	12	2036	c.1715G>C	c.(1714-1716)aGt>aCt	p.S572T	CBLB_ENST00000403724.1_Missense_Mutation_p.S572T|CBLB_ENST00000394027.3_Missense_Mutation_p.S594T|CBLB_ENST00000405772.1_Missense_Mutation_p.S572T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	572	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GATGTGTCTACTCAGTCTATT	0.527			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													100.0	87.0	91.0					3																	105421182		2203	4300	6503	SO:0001583	missense	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1715G>C	3.37:g.105421182C>G	ENSP00000264122:p.Ser572Thr		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.S572T	ENST00000264122.4	37	c.1715	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311459	0.23821	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.83914	-1.76;-1.75;-1.78;-1.78	5.36	5.36	0.76844	.	0.205242	0.53938	D	0.000054	T	0.72558	0.3475	L	0.29908	0.895	0.80722	D	1	B;B;B	0.22146	0.039;0.065;0.039	B;B;B	0.19391	0.011;0.025;0.016	T	0.66775	-0.5838	9	.	.	.	-18.701	11.6997	0.51564	0.0:0.9184:0.0:0.0816	.	594;572;572	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	T	572;594;572;572	ENSP00000264122:S572T;ENSP00000377595:S594T;ENSP00000384816:S572T;ENSP00000384938:S572T	.	S	-	2	0	CBLB	106903872	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	3.391000	0.52530	2.485000	0.83878	0.404000	0.27445	AGT	CBLB	-	NULL	ENSG00000114423		0.527	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2		0.00	69	0	C	NM_170662		105421182	-1			no_errors	ENST00000264122	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.962	G
CCDC63	160762	genome.wustl.edu	37	12	111317835	111317835	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:111317835G>T	ENST00000308208.5	+	6	857	c.615G>T	c.(613-615)atG>atT	p.M205I	CCDC63_ENST00000545036.1_Missense_Mutation_p.M165I|CCDC63_ENST00000552694.1_Missense_Mutation_p.M126I|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	205										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCCTGTTGATGGAGAAGAAAA	0.527																																																	0													164.0	160.0	161.0					12																	111317835		2203	4300	6503	SO:0001583	missense	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.615G>T	12.37:g.111317835G>T	ENSP00000312399:p.Met205Ile		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.M205I	ENST00000308208.5	37	c.615	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	G	4.670	0.124564	0.08931	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.30182	1.54;1.54;1.54	5.04	-3.6	0.04570	.	1.584860	0.03285	N	0.186710	T	0.24084	0.0583	L	0.56769	1.78	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.10567	-1.0624	10	0.21014	T	0.42	.	1.1314	0.01746	0.3306:0.2557:0.2835:0.1302	.	205	Q8NA47	CCD63_HUMAN	I	165;205;126	ENSP00000445881:M165I;ENSP00000312399:M205I;ENSP00000450217:M126I	ENSP00000312399:M205I	M	+	3	0	CCDC63	109802218	0.081000	0.21417	0.004000	0.12327	0.051000	0.14879	0.201000	0.17276	-0.725000	0.04901	0.462000	0.41574	ATG	CCDC63	-	NULL	ENSG00000173093		0.527	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2		0.00	49	0	G	NM_152591		111317835	+1			no_errors	ENST00000308208	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.006	T
CEACAM16	388551	genome.wustl.edu	37	19	45211162	45211162	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:45211162G>A	ENST00000405314.2	+	5	1067	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	CEACAM16_ENST00000587331.1_Missense_Mutation_p.V324M|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	324					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GATCGTGCCCGTGCCCACCAA	0.652																																																	0													15.0	17.0	16.0					19																	45211162		2165	4248	6413	SO:0001583	missense	0				CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.970G>A	19.37:g.45211162G>A	ENSP00000385576:p.Val324Met		A7LI12	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V324M	ENST00000405314.2	37	c.970	CCDS54278.1	19	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273076	0.40194	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.01665	4.7	5.87	3.69	0.42338	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01695	0.0054	L	0.41236	1.265	0.28400	N	0.918674	P	0.43662	0.814	B	0.33339	0.162	T	0.46527	-0.9185	9	0.49607	T	0.09	-23.7722	7.4779	0.27387	0.1992:0.0:0.8008:0.0	.	383	Q2WEN9	CEA16_HUMAN	M	389;324	ENSP00000385576:V324M	ENSP00000379974:V389M	V	+	1	0	CEACAM16	49903002	0.973000	0.33851	0.843000	0.33291	0.928000	0.56348	1.724000	0.38064	1.404000	0.46819	-0.355000	0.07637	GTG	CEACAM16	-	smart_Ig_sub	ENSG00000213892		0.652	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CEACAM16	HGNC	protein_coding		-	0.00	55	0	G	XM_371177		45211162	+1	tier1	-	no_errors	ENST00000405314	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.929	A
CHD8	57680	genome.wustl.edu	37	14	21859177	21859177	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:21859177T>C	ENST00000557364.1	-	37	7374	c.7111A>G	c.(7111-7113)Aat>Gat	p.N2371D	CHD8_ENST00000399982.2_Missense_Mutation_p.N2371D|CHD8_ENST00000430710.3_Missense_Mutation_p.N2092D|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2371					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCCTTATTATTTTTTTTACAT	0.363																																																	0													101.0	88.0	92.0					14																	21859177		1823	4086	5909	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.7111A>G	14.37:g.21859177T>C	ENSP00000451601:p.Asn2371Asp		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N2371D	ENST00000557364.1	37	c.7111	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	T	13.90	2.373753	0.42105	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553870	D;D;D;T	0.88664	-2.4;-2.41;-2.41;1.94	5.43	4.28	0.50868	.	0.348287	0.28104	N	0.016585	T	0.77011	0.4068	N	0.08118	0	0.30149	N	0.803271	B	0.18310	0.027	B	0.20767	0.031	T	0.73636	-0.3920	10	0.62326	D	0.03	-16.7112	9.4599	0.38778	0.0:0.0:0.2752:0.7248	.	2092	Q9HCK8-2	.	D	2092;2371;2091;2371;148	ENSP00000406288:N2092D;ENSP00000382863:N2371D;ENSP00000451601:N2371D;ENSP00000451071:N148D	ENSP00000262707:N2091D	N	-	1	0	CHD8	20929017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.204000	0.51082	2.274000	0.75844	0.533000	0.62120	AAT	CHD8	-	NULL	ENSG00000100888		0.363	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1		0.00	48	0	T	NM_020920		21859177	-1			no_errors	ENST00000399982	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	C
CLEC2A	387836	genome.wustl.edu	37	12	10084889	10084889	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:10084889A>T	ENST00000455827.1	-	1	91	c.40T>A	c.(40-42)Ttc>Atc	p.F14I	CLEC2A_ENST00000339766.4_Missense_Mutation_p.F14I	NM_001130711.1	NP_001124183.1	Q6UVW9	CLC2A_HUMAN	C-type lectin domain family 2, member A	14					natural killer cell mediated cytotoxicity (GO:0042267)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	4						CGATGTATGAAGCCATCAGCT	0.403																																																	0													75.0	63.0	67.0					12																	10084889		692	1591	2283	SO:0001583	missense	0			AY359126	CCDS44829.1, CCDS8606.1	12p13.31	2010-06-30			ENSG00000188393	ENSG00000188393		"""C-type lectin domain containing"""	24191	protein-coding gene	gene with protein product	"""keratinocyte-associated C-type lectin"", ""proliferation-induced lymphocyte-associated receptor"""	612087				12975309	Standard	NM_001130711		Approved	UNQ5792, INPE5792, KACL, PILAR	uc009zhc.2	Q6UVW9	OTTHUMG00000140393	ENST00000455827.1:c.40T>A	12.37:g.10084889A>T	ENSP00000396163:p.Phe14Ile		A5Y4G5|A9QKS2|A9QKS3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.F14I	ENST00000455827.1	37	c.40	CCDS44829.1	12	.	.	.	.	.	.	.	.	.	.	A	8.748	0.920561	0.17982	.	.	ENSG00000188393	ENST00000339766;ENST00000455827	T;T	0.03094	4.11;4.05	1.47	-1.03	0.10102	.	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B;B	0.21821	0.013;0.061	B;B	0.13407	0.002;0.009	T	0.48525	-0.9028	9	0.22109	T	0.4	.	4.2672	0.10769	0.5673:0.0:0.4327:0.0	.	14;14	Q6UVW9;Q6UVW9-2	CLC2A_HUMAN;.	I	14	ENSP00000339732:F14I;ENSP00000396163:F14I	ENSP00000339732:F14I	F	-	1	0	CLEC2A	9976156	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.469000	0.06648	-0.345000	0.08325	-0.621000	0.04028	TTC	CLEC2A	-	NULL	ENSG00000188393		0.403	CLEC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC2A	HGNC	protein_coding	OTTHUMT00000399919.1	-	0.00	55	0	A	NM_207375		10084889	-1	tier1	-	no_errors	ENST00000455827	ensembl	human	known	74_37	missense	47.06	18	16	SNP	0.000	T
CLEC4M	10332	genome.wustl.edu	37	19	7830789	7830789	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:7830789G>T	ENST00000327325.5	+	4	598	c.480G>T	c.(478-480)caG>caT	p.Q160H	CLEC4M_ENST00000248228.4_Missense_Mutation_p.Q138H|CLEC4M_ENST00000394122.2_Missense_Mutation_p.Q148H|CLEC4M_ENST00000597522.1_Missense_Mutation_p.Q160H|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596363.1_Missense_Mutation_p.Q132H|CLEC4M_ENST00000334806.5_Missense_Mutation_p.Q109H|CLEC4M_ENST00000359059.5_Missense_Mutation_p.Q116H|CLEC4M_ENST00000357361.2_Missense_Mutation_p.Q160H|CLEC4M_ENST00000596707.1_Missense_Mutation_p.Q139H	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	160	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGATCTACCAGGAGCTGACCC	0.582																																																	0													1.0	1.0	1.0					19																	7830789		587	1093	1680	SO:0001583	missense	0			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.480G>T	19.37:g.7830789G>T	ENSP00000316228:p.Gln160His		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.Q160H	ENST00000327325.5	37	c.480	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432466	0.25813	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.23754	1.93;1.89;1.89;1.93;1.97;1.93	1.19	0.0655	0.14357	.	.	.	.	.	T	0.43277	0.1240	M	0.76574	2.34	0.09310	N	1	P;D;D;D;D;P;D;B;D	0.76494	0.88;0.995;0.999;0.995;0.991;0.914;0.973;0.357;0.997	P;D;D;D;D;P;P;B;D	0.87578	0.775;0.989;0.998;0.951;0.991;0.763;0.881;0.437;0.963	T	0.20438	-1.0275	9	0.62326	D	0.03	.	3.5725	0.07922	0.2755:0.0:0.7245:0.0	.	109;139;132;160;148;137;132;160;104	B4E2Z5;Q9H2X3-5;B4DNV9;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-4;Q9H2X3-10	.;.;.;CLC4M_HUMAN;.;.;.;.;.	H	160;148;138;109;116;160;104	ENSP00000316228:Q160H;ENSP00000377680:Q148H;ENSP00000248228:Q138H;ENSP00000335228:Q109H;ENSP00000351954:Q116H;ENSP00000349924:Q160H	ENSP00000248228:Q138H	Q	+	3	2	CLEC4M	7736789	0.029000	0.19370	0.004000	0.12327	0.074000	0.17049	0.143000	0.16115	0.073000	0.16731	0.430000	0.28490	CAG	CLEC4M	-	NULL	ENSG00000104938		0.582	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	HGNC	protein_coding	OTTHUMT00000461161.1		0.00	69	0	G	NM_014257		7830789	+1			no_errors	ENST00000327325	ensembl	human	known	74_37	missense	13.85	56	9	SNP	0.005	T
CLEC4M	10332	genome.wustl.edu	37	19	7830858	7830858	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:7830858G>T	ENST00000327325.5	+	4	667	c.549G>T	c.(547-549)caG>caT	p.Q183H	CLEC4M_ENST00000248228.4_Missense_Mutation_p.Q161H|CLEC4M_ENST00000394122.2_Missense_Mutation_p.Q171H|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596363.1_Missense_Mutation_p.Q155H|CLEC4M_ENST00000334806.5_Missense_Mutation_p.Q132H|CLEC4M_ENST00000359059.5_Missense_Mutation_p.Q139H|CLEC4M_ENST00000357361.2_Missense_Mutation_p.Q183H|CLEC4M_ENST00000596707.1_Missense_Mutation_p.Q162H	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	183	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGATCTACCAGGAGCTGACCC	0.577																																																	0													6.0	7.0	6.0					19																	7830858		1923	3911	5834	SO:0001583	missense	0			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.549G>T	19.37:g.7830858G>T	ENSP00000316228:p.Gln183His		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.Q183H	ENST00000327325.5	37	c.549	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501775	0.26949	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.22945	1.97;1.93;1.93;1.97;4.12;1.97	1.1	-0.0706	0.13747	.	.	.	.	.	T	0.43211	0.1237	M	0.74881	2.28	0.09310	N	1	D;D;D;D;D;P;D;D	0.69078	0.995;0.967;0.997;0.969;0.997;0.914;0.994;0.997	D;D;D;B;D;P;D;D	0.87578	0.987;0.941;0.998;0.432;0.989;0.763;0.93;0.963	T	0.21211	-1.0252	9	0.66056	D	0.02	.	3.5138	0.07717	0.2906:0.0:0.7094:0.0	.	132;162;155;183;171;160;155;127	B4E2Z5;Q9H2X3-5;B4DNV9;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-10	.;.;.;CLC4M_HUMAN;.;.;.;.	H	183;171;161;132;139;183;127	ENSP00000316228:Q183H;ENSP00000377680:Q171H;ENSP00000248228:Q161H;ENSP00000335228:Q132H;ENSP00000351954:Q139H;ENSP00000349924:Q183H	ENSP00000248228:Q161H	Q	+	3	2	CLEC4M	7736858	0.017000	0.18338	0.005000	0.12908	0.096000	0.18686	0.170000	0.16663	0.030000	0.15379	0.430000	0.28490	CAG	CLEC4M	-	NULL	ENSG00000104938		0.577	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	HGNC	protein_coding	OTTHUMT00000461161.1	-	0.00	103	0	G	NM_014257		7830858	+1	tier1	-	no_errors	ENST00000327325	ensembl	human	known	74_37	missense	31.18	64	29	SNP	0.008	T
CLRN1-AS1	116933	genome.wustl.edu	37	3	150780576	150780576	+	RNA	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:150780576G>T	ENST00000476886.1	+	0	123				CLRN1-AS1_ENST00000465576.1_RNA					CLRN1 antisense RNA 1																		aaggcagctggatccaggcag	0.453																																																	0																																												0					3q25.1	2012-10-12	2012-08-15	2011-04-28	ENSG00000239265	ENSG00000239265		"""Long non-coding RNAs"""	30895	non-coding RNA	RNA, long non-coding			"""clarin 1 opposite strand"", ""CLRN1 antisense RNA 1 (non-protein coding)"""	CLRN1OS		11524702	Standard	NR_024066		Approved	UCRP	uc011bny.1		OTTHUMG00000159846		3.37:g.150780576G>T				RNA	SNP	-	NULL	ENST00000476886.1	37	NULL		3																																																																																			CLRN1-AS1	-	-	ENSG00000239265		0.453	CLRN1-AS1-001	KNOWN	basic	antisense	CLRN1-AS1	HGNC	antisense	OTTHUMT00000357695.2	-	0.00	21	0	G			150780576	+1	tier1	-	no_errors	ENST00000465576	ensembl	human	known	74_37	rna	25.00	33	11	SNP	0.006	T
CMAHP	8418	genome.wustl.edu	37	6	25106621	25106621	+	RNA	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:25106621C>T	ENST00000377989.4	-	0	1494							Q9Y471	CMAH_HUMAN	cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene						CMP-N-acetylneuraminate metabolic process (GO:0046381)	cytoplasm (GO:0005737)	2 iron, 2 sulfur cluster binding (GO:0051537)|oxidoreductase activity (GO:0016491)			NS(1)	1						AAATACCCAGCAAAGGGACAA	0.428																																																	0																																												0					6p23-p22	2011-04-28	2011-04-28	2011-04-28	ENSG00000168405	ENSG00000168405			2098	pseudogene	pseudogene		603209	"""cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene)"""	CMAH		7608218, 9624188	Standard	NR_002174		Approved		uc003ner.4	Q9Y471	OTTHUMG00000016099		6.37:g.25106621C>T			O95250|Q5TD41|Q5TD42|Q5TD43|Q5TD44|Q68DC3|Q9UEE7	RNA	SNP	-	NULL	ENST00000377989.4	37	NULL		6	.	.	.	.	.	.	.	.	.	.	C	31	5.071140	0.93950	.	.	ENSG00000168405	ENST00000377993;ENST00000436589;ENST00000377989	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80276	-0.1450	8	0.87932	D	0	-17.4458	17.6482	0.88154	0.0:1.0:0.0:0.0	.	255	C1K3L2	.	T	255	.	ENSP00000367228:A255T	A	-	1	0	CMAHP	25214600	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.140000	0.71738	2.690000	0.91761	0.591000	0.81541	GCT	CMAHP	-	-	ENSG00000168405		0.428	CMAHP-002	KNOWN	basic	processed_transcript	CMAHP	HGNC	pseudogene	OTTHUMT00000043292.2	-	0.00	109	0	C	NR_002174		25106621	-1	tier1	-	no_errors	ENST00000377989	ensembl	human	known	74_37	rna	6.56	57	4	SNP	1.000	T
CMKLR1	1240	genome.wustl.edu	37	12	108685821	108685821	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:108685821C>T	ENST00000312143.7	-	3	1282	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	CMKLR1_ENST00000552995.1_Missense_Mutation_p.A305T|CMKLR1_ENST00000412676.1_Missense_Mutation_p.A307T|CMKLR1_ENST00000550402.1_Missense_Mutation_p.A307T|CMKLR1_ENST00000397688.2_Missense_Mutation_p.A305T	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	307					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)	p.A305S(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CAGCTGTTGGCAATGGCAAGG	0.552																																																	1	Substitution - Missense(1)	endometrium(1)											66.0	70.0	68.0					12																	108685821		2048	4197	6245	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.919G>A	12.37:g.108685821C>T	ENSP00000311733:p.Ala307Thr		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.A307T	ENST00000312143.7	37	c.919	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	c	10.97	1.502374	0.26949	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.33	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.808524	0.11313	N	0.576882	T	0.28764	0.0713	L	0.37507	1.11	0.34084	D	0.659922	B	0.18013	0.025	B	0.21151	0.033	T	0.29458	-1.0011	10	0.29301	T	0.29	.	9.8868	0.41266	0.1764:0.7379:0.0:0.0857	.	307	Q99788	CML1_HUMAN	T	307;307;305;305;307	ENSP00000311733:A307T;ENSP00000401293:A307T;ENSP00000380803:A305T;ENSP00000447579:A305T;ENSP00000449716:A307T	ENSP00000311733:A307T	A	-	1	0	CMKLR1	107209951	0.167000	0.22975	0.977000	0.42913	0.825000	0.46686	0.776000	0.26704	1.249000	0.43950	0.550000	0.68814	GCC	CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000174600		0.552	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1		0.00	41	0	C			108685821	-1			no_errors	ENST00000312143	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.439	T
COL16A1	1307	genome.wustl.edu	37	1	32154674	32154674	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:32154674T>A	ENST00000373672.3	-	24	2149	c.1633A>T	c.(1633-1635)Atc>Ttc	p.I545F	COL16A1_ENST00000373668.3_Missense_Mutation_p.I545F|COL16A1_ENST00000271069.6_Missense_Mutation_p.I545F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	545	Triple-helical region 8 (COL8) with 1 imperfection.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ATGCCTTGGATGCCAGGGTCT	0.572																																					Colon(143;498 1786 21362 25193 36625)												0													88.0	94.0	92.0					1																	32154674		2004	4168	6172	SO:0001583	missense	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1633A>T	1.37:g.32154674T>A	ENSP00000362776:p.Ile545Phe		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.I545F	ENST00000373672.3	37	c.1633	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678809	0.47886	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	D;D;D;D	0.96136	-3.24;-3.92;-3.24;-3.92	5.18	4.02	0.46733	.	0.381455	0.28047	N	0.016812	D	0.91945	0.7449	L	0.28649	0.875	0.36360	D	0.8606	P;P;P	0.50943	0.94;0.879;0.926	P;B;P	0.47626	0.505;0.35;0.552	D	0.90638	0.4572	10	0.30854	T	0.27	.	9.158	0.37005	0.0:0.0:0.1841:0.8159	.	545;545;545	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	F	545;545;545;264	ENSP00000362776:I545F;ENSP00000271069:I545F;ENSP00000362772:I545F;ENSP00000362771:I264F	ENSP00000271069:I545F	I	-	1	0	COL16A1	31927261	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.045000	0.41250	0.894000	0.36317	0.459000	0.35465	ATC	COL16A1	-	NULL	ENSG00000084636		0.572	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	-	0.00	25	0	T	NM_001856		32154674	-1	tier1	-	no_errors	ENST00000271069	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	A
COL6A3	1293	genome.wustl.edu	37	2	238242105	238242105	+	Missense_Mutation	SNP	G	G	A	rs112455407		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:238242105G>A	ENST00000295550.4	-	42	9768	c.9316C>T	c.(9316-9318)Ctc>Ttc	p.L3106F	COL6A3_ENST00000346358.4_Missense_Mutation_p.L2906F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2905F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2900F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2900F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L2499F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3106	Nonhelical 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)		GTTTCAGTGAGAGCCAATGGT	0.413																																																	0													96.0	90.0	92.0					2																	238242105		2203	4300	6503	SO:0001583	missense	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.9316C>T	2.37:g.238242105G>A	ENSP00000295550:p.Leu3106Phe		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	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.L3106F	ENST00000295550.4	37	c.9316	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	7.270	0.606989	0.14002	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	4.79	2.02	0.26589	Proteinase inhibitor I2, Kunitz metazoa (1);	0.423587	0.19722	N	0.107565	T	0.37598	0.1009	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.17137	-1.0379	10	0.31617	T	0.26	.	6.7351	0.23405	0.2519:0.486:0.2622:0.0	.	2499;2900;3106	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	F	3106;2905;2900;2499;2900;2906	ENSP00000295550:L3106F;ENSP00000315609:L2905F;ENSP00000315873:L2900F;ENSP00000418285:L2499F;ENSP00000386844:L2900F;ENSP00000295546:L2906F	ENSP00000295550:L3106F	L	-	1	0	COL6A3	237906844	0.001000	0.12720	0.001000	0.08648	0.788000	0.44548	0.324000	0.19610	0.197000	0.20387	0.650000	0.86243	CTC	COL6A3	-	superfamily_Prot_inh_Kunz-m	ENSG00000163359		0.413	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0.00	94	0	G	NM_004369		238242105	-1	tier1	rs112455407	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	12.50	56	8	SNP	0.001	A
CRAMP1L	57585	genome.wustl.edu	37	16	1716165	1716165	+	Silent	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr16:1716165G>A	ENST00000397412.3	+	15	2943	c.2844G>A	c.(2842-2844)acG>acA	p.T948T	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.T945T|CRAMP1L_ENST00000262317.4_Silent_p.T326T|CRAMP1L_ENST00000293925.5_Silent_p.T948T			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	948						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCAGGCCACGAGTCACCTGG	0.567																																																	0													25.0	29.0	28.0					16																	1716165		2014	4173	6187	SO:0001819	synonymous_variant	0			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2844G>A	16.37:g.1716165G>A			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.T948	ENST00000397412.3	37	c.2844	CCDS10440.2	16																																																																																			CRAMP1L	-	NULL	ENSG00000007545		0.567	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	-	0.00	137	0	G			1716165	+1	tier1	-	no_errors	ENST00000293925	ensembl	human	known	74_37	silent	15.76	139	26	SNP	0.001	A
CTNNA2	1496	genome.wustl.edu	37	2	80808922	80808922	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:80808922T>A	ENST00000402739.4	+	13	1990	c.1985T>A	c.(1984-1986)cTc>cAc	p.L662H	CTNNA2_ENST00000496558.1_Missense_Mutation_p.L662H|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L662H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L341H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L662H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L696H|CTNNA2_ENST00000466387.1_Missense_Mutation_p.L662H|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000596887.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	662					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GATGACCAGCTCATTGCAGGG	0.478																																																	0													93.0	99.0	97.0					2																	80808922		2111	4208	6319	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1985T>A	2.37:g.80808922T>A	ENSP00000384638:p.Leu662His		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.L696H	ENST00000402739.4	37	c.2087		2	.	.	.	.	.	.	.	.	.	.	T	28.8	4.954287	0.92726	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.63428	1.95	0.80722	D	1	B;B;D;D	0.71674	0.321;0.12;0.998;0.997	B;B;D;D	0.67382	0.138;0.221;0.951;0.951	T	0.60161	-0.7317	9	.	.	.	.	15.9602	0.79926	0.0:0.0:0.0:1.0	.	294;662;662;662	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	H	662;662;696;662;662;662;341	ENSP00000418191:L662H;ENSP00000419295:L662H;ENSP00000355398:L696H;ENSP00000384638:L662H;ENSP00000444675:L662H;ENSP00000441705:L662H;ENSP00000341500:L341H	.	L	+	2	0	CTNNA2	80662433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.158000	0.67659	0.528000	0.53228	CTC	CTNNA2	-	pfam_Vinculin/catenin	ENSG00000066032		0.478	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0.00	80	0	T	NM_004389		80808922	+1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	11.76	60	8	SNP	1.000	A
CYP2F1	1572	genome.wustl.edu	37	19	41622165	41622165	+	Silent	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:41622165A>G	ENST00000331105.2	+	2	144	c.72A>G	c.(70-72)tcA>tcG	p.S24S		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	24					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)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCCTAAGCTCAAGAGATAAGG	0.567																																																	0													170.0	160.0	163.0					19																	41622165		2203	4300	6503	SO:0001819	synonymous_variant	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.72A>G	19.37:g.41622165A>G			A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	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.S24	ENST00000331105.2	37	c.72	CCDS12572.1	19																																																																																			CYP2F1	-	NULL	ENSG00000197446		0.567	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2		0.00	48	0	A			41622165	+1			no_errors	ENST00000331105	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.000	G
DCTD	1635	genome.wustl.edu	37	4	183815663	183815663	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:183815663C>T	ENST00000438320.2	-	4	630	c.340G>A	c.(340-342)Gct>Act	p.A114T	DCTD_ENST00000510370.1_Missense_Mutation_p.A114T|DCTD_ENST00000357067.3_Missense_Mutation_p.A125T	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	114					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)	p.A114T(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	ATGAGCTTAGCGCATTCATTA	0.468																																																	1	Substitution - Missense(1)	endometrium(1)											167.0	132.0	144.0					4																	183815663		2203	4300	6503	SO:0001583	missense	0			L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.340G>A	4.37:g.183815663C>T	ENSP00000398194:p.Ala114Thr		B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase	p.A125T	ENST00000438320.2	37	c.373	CCDS3831.1	4	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508118	0.64410	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182;ENST00000510307;ENST00000512766	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.53	4.68	0.58851	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.987	P;P;P;P	0.62298	0.884;0.9;0.629;0.681	T	0.58853	-0.7563	10	0.44086	T	0.13	-4.8643	14.7527	0.69540	0.0:0.9293:0.0:0.0707	.	114;55;125;114	D6RBJ9;B4DDC2;P32321-2;P32321	.;.;.;DCTD_HUMAN	T	125;114;114;114;114;114	ENSP00000349576:A125T;ENSP00000398194:A114T;ENSP00000424017:A114T;ENSP00000422662:A114T;ENSP00000424050:A114T;ENSP00000423182:A114T	ENSP00000349576:A125T	A	-	1	0	DCTD	184052657	1.000000	0.71417	0.988000	0.46212	0.261000	0.26267	7.776000	0.85560	2.602000	0.87976	0.650000	0.86243	GCT	DCTD	-	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase	ENSG00000129187		0.468	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTD	HGNC	protein_coding	OTTHUMT00000361743.2	-	0.00	108	0	C			183815663	-1	tier1	-	no_errors	ENST00000357067	ensembl	human	known	74_37	missense	19.28	67	16	SNP	1.000	T
DNAH7	56171	genome.wustl.edu	37	2	196799411	196799411	+	Silent	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:196799411T>C	ENST00000312428.6	-	21	3475	c.3375A>G	c.(3373-3375)gtA>gtG	p.V1125V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1125	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTATGAGTTCTACAACCTCTC	0.403																																																	0													154.0	148.0	150.0					2																	196799411		1871	4107	5978	SO:0001819	synonymous_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3375A>G	2.37:g.196799411T>C			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.V1125	ENST00000312428.6	37	c.3375	CCDS42794.1	2																																																																																			DNAH7	-	pfam_Dynein_heavy_dom-2	ENSG00000118997		0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0.00	67	0	T	NM_018897		196799411	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	silent	19.80	81	20	SNP	0.998	C
DOCK10	55619	genome.wustl.edu	37	2	225710304	225710304	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:225710304A>G	ENST00000258390.7	-	20	2358	c.2291T>C	c.(2290-2292)tTt>tCt	p.F764S	DOCK10_ENST00000409592.3_Missense_Mutation_p.F758S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	764	DHR-1.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GACGTGATAAAAAGAAAACAA	0.403																																																	0													143.0	135.0	138.0					2																	225710304		1863	4103	5966	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2291T>C	2.37:g.225710304A>G	ENSP00000258390:p.Phe764Ser		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F764S	ENST00000258390.7	37	c.2291	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697576	0.88830	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19938	2.11;2.11	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.93062	3.375	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68861	-0.5297	10	0.87932	D	0	.	15.4945	0.75637	1.0:0.0:0.0:0.0	.	764;758	Q96BY6;B3FL70	DOC10_HUMAN;.	S	758;764	ENSP00000386694:F758S;ENSP00000258390:F764S	ENSP00000258390:F764S	F	-	2	0	DOCK10	225418548	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.962000	0.93254	2.058000	0.61347	0.533000	0.62120	TTT	DOCK10	-	NULL	ENSG00000135905		0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1		0.00	43	0	A			225710304	-1			no_errors	ENST00000258390	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	G
DRG1	4733	genome.wustl.edu	37	22	31799191	31799191	+	Splice_Site	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr22:31799191G>A	ENST00000331457.4	+	3	503		c.e3+1		DRG1_ENST00000433341.1_Splice_Site	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CAAGATCCAGGTGAGTCAAGC	0.453																																																	0													62.0	54.0	57.0					22																	31799191		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.342+1G>A	22.37:g.31799191G>A			B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Splice_Site	SNP	-	e3+1	ENST00000331457.4	37	c.342+1	CCDS13897.1	22	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256112	0.80246	.	.	ENSG00000185721	ENST00000331457	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3368	0.87283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DRG1	30129191	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.832000	0.92079	2.756000	0.94617	0.655000	0.94253	.	DRG1	-	-	ENSG00000185721		0.453	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRG1	HGNC	protein_coding	OTTHUMT00000075680.5	-	0.00	59	0	G	NM_004147	Intron	31799191	+1	tier1	-	no_errors	ENST00000331457	ensembl	human	known	74_37	splice_site	5.00	76	4	SNP	1.000	A
EFNA2	1943	genome.wustl.edu	37	19	1299899	1299899	+	Silent	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:1299899C>T	ENST00000215368.2	+	4	612	c.597C>T	c.(595-597)ctC>ctT	p.L199L	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	199					axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|olfactory bulb development (GO:0021772)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCCGCCTCTTCCTCAGCA	0.682																																																	0													31.0	29.0	30.0					19																	1299899		2201	4298	6499	SO:0001819	synonymous_variant	0				CCDS12061.1	19p13	2011-03-09			ENSG00000099617	ENSG00000099617		"""Ephrins"""	3222	protein-coding gene	gene with protein product		602756		EPLG6			Standard	NM_001405		Approved	ELF-1, LERK6	uc002lry.2	O43921		ENST00000215368.2:c.597C>T	19.37:g.1299899C>T			O76020	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.L199	ENST00000215368.2	37	c.597	CCDS12061.1	19																																																																																			EFNA2	-	NULL	ENSG00000099617		0.682	EFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA2	HGNC	protein_coding	OTTHUMT00000450016.1		0.00	30	0	C	NM_001405		1299899	+1			no_errors	ENST00000215368	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.982	T
EIF2B1	1967	genome.wustl.edu	37	12	124107310	124107310	+	Splice_Site	SNP	T	T	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:124107310T>A	ENST00000424014.2	-	8	836		c.e8-2		EIF2B1_ENST00000539951.1_Splice_Site	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa						cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGTTCCAATCTGGGAAGGCAG	0.488																																																	0													93.0	91.0	92.0					12																	124107310		2203	4300	6503	SO:0001630	splice_region_variant	0			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.628-2A>T	12.37:g.124107310T>A			A6NLY9|B4DGX0|Q3SXP4	Splice_Site	SNP	-	e8-2	ENST00000424014.2	37	c.628-2	CCDS31924.1	12	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774423	0.90108	.	.	ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF2B1	122673263	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	7.973000	0.88032	2.285000	0.76669	0.533000	0.62120	.	EIF2B1	-	-	ENSG00000111361		0.488	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B1	HGNC	protein_coding	OTTHUMT00000400628.1	-	0.00	51	0	T	NM_001414	Intron	124107310	-1	tier1	-	no_errors	ENST00000424014	ensembl	human	known	74_37	splice_site	8.33	43	4	SNP	1.000	A
DCC	1630	genome.wustl.edu	37	18	50463676	50463676	+	Intron	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr18:50463676T>C	ENST00000442544.2	+	5	1601				DCC_ENST00000581580.1_Intron|DCC_ENST00000412726.1_Intron|AC090660.1_ENST00000408364.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCTTCCTAttaggttggtgc	0.328																																																	0																																										SO:0001627	intron_variant	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.985+11936T>C	18.37:g.50463676T>C				RNA	SNP	-	NULL	ENST00000442544.2	37	NULL	CCDS11952.1	18																																																																																			AC090660.1	-	-	ENSG00000221291		0.328	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221291	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000255996.3	-	0.00	21	0	T	NM_005215		50463676	+1	tier1	-	no_errors	ENST00000408364	ensembl	human	novel	74_37	rna	43.75	9	7	SNP	0.004	C
SEL1L2	80343	genome.wustl.edu	37	20	13936483	13936483	+	Intron	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr20:13936483C>G	ENST00000284951.5	-	2	189				AL117333.1_ENST00000408401.1_RNA|SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						attacttttgcaccaatctaa	0.388																																																	0																																										SO:0001627	intron_variant	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.114+238G>C	20.37:g.13936483C>G			B4DXX5	RNA	SNP	-	NULL	ENST00000284951.5	37	NULL		20																																																																																			AL117333.1	-	-	ENSG00000221328		0.388	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ENSG00000221328	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000078067.3	-	0.00	43	0	C	NM_025229		13936483	-1	tier1	-	no_errors	ENST00000408401	ensembl	human	novel	74_37	rna	13.33	52	8	SNP	0.012	G
REG3A	5068	genome.wustl.edu	37	2	79385594	79385594	+	Intron	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:79385594G>T	ENST00000409839.3	-	4	232				REG3A_ENST00000393878.1_Intron|REG3A_ENST00000305165.2_Intron|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha						acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGCCAGCTTTGAGGGCAACAA	0.567																																																	0													73.0	67.0	69.0					2																	79385594		2203	4300	6503	SO:0001627	intron_variant	0			S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.196-5C>A	2.37:g.79385594G>T				RNA	SNP	-	NULL	ENST00000409839.3	37	NULL	CCDS1965.1	2																																																																																			AC011754.1	-	-	ENSG00000224879		0.567	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224879	Clone_based_vega_gene	protein_coding	OTTHUMT00000252290.2	-	0.00	98	0	G	NM_002580		79385594	+1	tier1	-	no_errors	ENST00000415201	ensembl	human	known	74_37	rna	10.87	82	10	SNP	0.000	T
RP11-764K9.1	0	genome.wustl.edu	37	9	68400495	68400495	+	lincRNA	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	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	40	0	C			68400495	-1	tier1	-	no_errors	ENST00000417843	ensembl	human	known	74_37	rna	15.15	28	5	SNP	0.113	T
NARS2	79731	genome.wustl.edu	37	11	78154810	78154811	+	Intron	INS	-	-	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:78154810_78154811insA	ENST00000281038.5	-	12	1540				NARS2_ENST00000528850.1_Intron|RP11-452H21.1_ENST00000534168.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)						asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GCAACCTAAGGAAAAAAAAAAA	0.396																																																	0																																										SO:0001627	intron_variant	0			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1165-6->T	11.37:g.78154821_78154821dupA			G3V178	RNA	INS	-	NULL	ENST00000281038.5	37	NULL	CCDS8261.1	11																																																																																			RP11-452H21.1	-	-	ENSG00000254420		0.396	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254420	Clone_based_vega_gene	protein_coding	OTTHUMT00000391138.2		0.00	22	0	-	NM_024678		78154811	+1	tier1		no_errors	ENST00000534168	ensembl	human	known	74_37	rna	20.00	16	4	INS	0.247:0.000	A
WASH6P	653440	genome.wustl.edu	37	X	155252079	155252079	+	RNA	SNP	T	T	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:155252079T>G	ENST00000461007.1	+	0	1087				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCCAGCAACATCAGCTCTGTC	0.617																																																	0																																												0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252079T>G			A6NGF1|Q8N305	RNA	SNP	-	NULL	ENST00000461007.1	37	NULL		X	.	.	.	.	.	.	.	.	.	.	t	16.95	3.262885	0.59431	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.058959	0.64402	D	0.000003	T	0.30823	0.0777	.	.	.	0.09310	N	1	P	0.45240	0.854	P	0.46144	0.505	T	0.11665	-1.0578	8	0.54805	T	0.06	-15.2516	4.9924	0.14220	0.0:2.0E-4:0.0:0.9998	.	167	Q6VEQ5	WASH2_HUMAN	S	180;149	.	ENSP00000285718:I149S	I	+	2	0	WASH6P	154905273	1.000000	0.71417	0.969000	0.41365	0.434000	0.31775	5.550000	0.67268	0.350000	0.24002	0.143000	0.16000	ATC	AJ271736.10	-	-	ENSG00000270726		0.617	WASH6P-016	KNOWN	basic	processed_transcript	ENSG00000270726	Clone_based_vega_gene	pseudogene	OTTHUMT00000058840.1	-	0.00	76	0	T	NG_008380		155252079	+1	tier1	-	no_errors	ENST00000285718	ensembl	human	known	74_37	rna	45.24	23	19	SNP	1.000	G
EPB41L2	2037	genome.wustl.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-	rs147222924		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agcagt>agt	p.745_746SS>S	EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.745_746SS>S|EPB41L2_ENST00000524581.1_In_Frame_Del_p.123_124SS>S|EPB41L2_ENST00000527659.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000530481.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562																																																	0																																										SO:0001651	inframe_deletion	0			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2235_2237delCAG	6.37:g.131191082_131191084delCTG	ENSP00000338481:p.Ser746del		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	In_Frame_Del	DEL	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	p.S746in_frame_del	ENST00000337057.3	37	c.2237_2235	CCDS5141.1	6																																																																																			EPB41L2	-	pirsf_Band_41_protein	ENSG00000079819		0.562	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3		0.00	28	0	CTG			131191075	-1	tier1		no_errors	ENST00000337057	ensembl	human	known	74_37	in_frame_del	11.11	24	3	DEL	1.000:1.000:1.000	-
ERCC2	2068	genome.wustl.edu	37	19	45867776	45867776	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:45867776G>T	ENST00000391945.4	-	8	701	c.624C>A	c.(622-624)agC>agA	p.S208R	ERCC2_ENST00000391944.3_Missense_Mutation_p.S130R|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000485403.2_Missense_Mutation_p.S184R|ERCC2_ENST00000391940.4_Missense_Mutation_p.S184R	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	208	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGTAGTGGTAGCTATAAACCA	0.627			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""		E	0													48.0	39.0	42.0					19																	45867776		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.624C>A	19.37:g.45867776G>T	ENSP00000375809:p.Ser208Arg		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.S208R	ENST00000391945.4	37	c.624	CCDS33049.1	19	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737839	0.69304	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.72282	-0.64;-0.64;0.84	4.62	1.9	0.25705	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	H	0.94222	3.51	0.80722	D	1	D;D;P	0.76494	0.999;0.972;0.777	D;D;P	0.81914	0.995;0.939;0.865	D	0.84944	0.0867	10	0.87932	D	0	-41.956	8.2808	0.31900	0.2328:0.0:0.7672:0.0	.	130;184;208	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	R	158;184;208;130;184	ENSP00000375809:S208R;ENSP00000375808:S130R;ENSP00000375804:S184R	ENSP00000375804:S184R	S	-	3	2	ERCC2	50559616	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	0.946000	0.29069	0.391000	0.25143	0.561000	0.74099	AGC	ERCC2	-	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000104884		0.627	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC2	HGNC	protein_coding	OTTHUMT00000109626.2	-	0.00	41	0	G	NM_000400		45867776	-1	tier1	-	no_errors	ENST00000391945	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
ESR1	2099	genome.wustl.edu	37	6	152265535	152265535	+	Missense_Mutation	SNP	G	G	A	rs571716552		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:152265535G>A	ENST00000206249.3	+	4	1350	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000427531.2_Missense_Mutation_p.E157K|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000440973.1_Missense_Mutation_p.E330K|ESR1_ENST00000443427.1_Missense_Mutation_p.E330K|ESR1_ENST00000338799.5_Missense_Mutation_p.E330K	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	330	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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 transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	ACTCTATTCCGAGTATGATCC	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		16226	0.0		0.001	False		,,,				2504	0.0																0													111.0	103.0	106.0					6																	152265535		2203	4300	6503	SO:0001583	missense	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.988G>A	6.37:g.152265535G>A	ENSP00000206249:p.Glu330Lys		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E330K	ENST00000206249.3	37	c.988	CCDS5234.1	6	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524611	0.44969	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394	D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12	5.66	5.66	0.87406	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.214512	0.49305	D	0.000156	D	0.92580	0.7643	N	0.12746	0.255	0.46044	D	0.998835	B;B;D;P;B;B	0.57571	0.343;0.068;0.98;0.549;0.091;0.111	B;B;P;B;B;B	0.51615	0.214;0.01;0.675;0.065;0.034;0.057	D	0.92228	0.5790	10	0.30854	T	0.27	.	19.7375	0.96212	0.0:0.0:1.0:0.0	.	234;111;72;329;330;330	B0QYW6;E7EVR3;Q9Y2W8;A8KAF4;G4XH65;P03372	.;.;.;.;.;ESR1_HUMAN	K	330;330;111;330;330;258;157	ENSP00000405330:E330K;ENSP00000342630:E330K;ENSP00000387500:E330K;ENSP00000206249:E330K;ENSP00000445454:E157K	ENSP00000206249:E330K	E	+	1	0	ESR1	152307228	1.000000	0.71417	0.909000	0.35828	0.342000	0.28953	5.143000	0.64826	2.680000	0.91292	0.655000	0.94253	GAG	ESR1	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000091831		0.537	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	-	0.00	70	0	G			152265535	+1	tier1	-	no_errors	ENST00000206249	ensembl	human	known	74_37	missense	8.70	41	4	SNP	0.972	A
EXO5	64789	genome.wustl.edu	37	1	40981009	40981009	+	Missense_Mutation	SNP	G	G	C	rs143142866	byFrequency	TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:40981009G>C	ENST00000372703.1	+	2	1867	c.793G>C	c.(793-795)Gtg>Ctg	p.V265L	RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.V265L|EXO5_ENST00000296380.4_Missense_Mutation_p.V265L|RP11-656D10.5_ENST00000453437.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	265					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										AGGCTTCTCTGTGAAGTCTTT	0.478																																																	0													169.0	159.0	162.0					1																	40981009		2203	4300	6503	SO:0001583	missense	0			AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.793G>C	1.37:g.40981009G>C	ENSP00000361788:p.Val265Leu		D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	pfam_EXOV	p.V265L	ENST00000372703.1	37	c.793	CCDS453.1	1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696635	0.68386	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000296380	T;T;T	0.29397	1.57;1.57;1.57	5.31	5.31	0.75309	.	0.117705	0.33401	N	0.004951	T	0.44746	0.1308	L	0.54323	1.7	0.37826	D	0.928554	D	0.65815	0.995	D	0.64877	0.93	T	0.17349	-1.0372	10	0.10111	T	0.7	-6.1257	14.6965	0.69126	0.0:0.0:1.0:0.0	.	265	Q9H790	EXO5_HUMAN	L	265	ENSP00000351328:V265L;ENSP00000361788:V265L;ENSP00000296380:V265L	ENSP00000296380:V265L	V	+	1	0	DEM1	40753596	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.182000	0.58310	2.937000	0.99478	0.650000	0.86243	GTG	EXO5	-	pfam_EXOV	ENSG00000164002		0.478	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXO5	HGNC	protein_coding	OTTHUMT00000019087.1		0.00	30	0	G	NM_022774		40981009	+1			no_errors	ENST00000296380	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	C
FBLN1	2192	genome.wustl.edu	37	22	45938145	45938145	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr22:45938145A>T	ENST00000327858.6	+	10	1272	c.1177A>T	c.(1177-1179)Atc>Ttc	p.I393F	FBLN1_ENST00000262722.7_Missense_Mutation_p.I393F|FBLN1_ENST00000442170.2_Missense_Mutation_p.I393F|FBLN1_ENST00000348697.2_Missense_Mutation_p.I393F|FBLN1_ENST00000402984.3_Missense_Mutation_p.I431F|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000340923.5_Missense_Mutation_p.I393F	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	393	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTTTGACGGCATCAGCAGGAT	0.632																																																	0													72.0	75.0	74.0					22																	45938145		2203	4300	6503	SO:0001583	missense	0				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1177A>T	22.37:g.45938145A>T	ENSP00000331544:p.Ile393Phe		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.I393F	ENST00000327858.6	37	c.1177	CCDS14067.1	22	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154275	0.57259	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.87412	-2.23;-2.23;-2.23;-2.25;-2.23;-2.23	5.33	3.22	0.36961	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.097167	0.64402	D	0.000001	T	0.78201	0.4246	N	0.03084	-0.415	0.50171	D	0.999858	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.75020	0.978;0.969;0.985;0.984	T	0.74864	-0.3519	10	0.02654	T	1	.	5.479	0.16713	0.7024:0.1463:0.1513:0.0	.	431;393;393;393	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	F	393;431;393;393;393;393	ENSP00000262723:I393F;ENSP00000385521:I431F;ENSP00000262722:I393F;ENSP00000331544:I393F;ENSP00000393812:I393F;ENSP00000342212:I393F	ENSP00000262722:I393F	I	+	1	0	FBLN1	44316809	0.847000	0.29606	0.999000	0.59377	0.989000	0.77384	1.719000	0.38011	0.436000	0.26393	0.533000	0.62120	ATC	FBLN1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Fibulin-1,pfscan_EG-like_dom	ENSG00000077942		0.632	FBLN1-001	KNOWN	basic|CCDS	protein_coding	FBLN1	HGNC	protein_coding	OTTHUMT00000322287.1	-	0.00	43	0	A	NM_006486		45938145	+1	tier1	-	no_errors	ENST00000327858	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.995	T
FCGR3A	2214	genome.wustl.edu	37	1	161518363	161518363	+	Missense_Mutation	SNP	T	T	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:161518363T>G	ENST00000436743.1	-	4	321	c.167A>C	c.(166-168)aAt>aCt	p.N56T	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.N91T|FCGR3A_ENST00000367969.3_Missense_Mutation_p.N92T|FCGR3A_ENST00000540048.1_Missense_Mutation_p.N56T	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	56	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGTGTGGAATTGTCCTCAGG	0.557																																																	0													251.0	250.0	250.0					1																	161518363		2203	4300	6503	SO:0001583	missense	0			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.167A>C	1.37:g.161518363T>G	ENSP00000416607:p.Asn56Thr		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.N92T	ENST00000436743.1	37	c.275	CCDS44266.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.35|12.35	1.911657|1.911657	0.33721|0.33721	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	.|T;T;T;T;T;T	.|0.11063	.|2.81;2.81;2.81;2.81;2.81;2.81	4.43|4.43	-0.708|-0.708	0.11241|0.11241	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|1.587160	.|0.03963	.|N	.|0.290409	T|T	0.04952|0.04952	0.0133|0.0133	L|L	0.42008|0.42008	1.315|1.315	0.09310|0.09310	N|N	1|1	.|P;P;B	.|0.47302	.|0.804;0.893;0.135	.|P;P;B	.|0.48189	.|0.473;0.57;0.099	T|T	0.20107|0.20107	-1.0285|-1.0285	5|10	.|0.45353	.|T	.|0.12	.|.	4.0893|4.0893	0.09962|0.09962	0.0:0.2938:0.1779:0.5283|0.0:0.2938:0.1779:0.5283	.|.	.|56;91;56	.|P08637;E9PG94;Q9UPY7	.|FCG3A_HUMAN;.;.	L|T	73|92;91;56;56;56;55	.|ENSP00000356946:N92T;ENSP00000392047:N91T;ENSP00000416607:N56T;ENSP00000356944:N56T;ENSP00000444971:N56T;ENSP00000396567:N55T	.|ENSP00000356944:N56T	I|N	-|-	1|2	0|0	FCGR3A|FCGR3A	159784987|159784987	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.016000|0.016000	0.09150|0.09150	-0.062000|-0.062000	0.11674|0.11674	-0.217000|-0.217000	0.10033|0.10033	0.482000|0.482000	0.46254|0.46254	ATT|AAT	FCGR3A	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000203747		0.557	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR3A	HGNC	protein_coding	OTTHUMT00000102169.2	-	0.00	182	0	T	NM_000569		161518363	-1	tier1	-	no_errors	ENST00000367969	ensembl	human	known	74_37	missense	8.54	150	14	SNP	0.011	G
FCGR3A	2214	genome.wustl.edu	37	1	161595991	161595991	+	Intron	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:161595991C>G	ENST00000540048.1	-	2	94				FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.G174A|FCGR3B_ENST00000531221.1_Missense_Mutation_p.G210A|FCGR3B_ENST00000367964.2_Missense_Mutation_p.G174A			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAACAAGCCCCCTGCAGAA	0.463																																																	0													108.0	116.0	113.0					1																	161595991		2200	4300	6500	SO:0001627	intron_variant	0			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+4166G>C	1.37:g.161595991C>G			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.G174A	ENST00000540048.1	37	c.521		1	.	.	.	.	.	.	.	.	.	.	-	10.86	1.468948	0.26335	.	.	ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221	T;T;T	0.09073	3.02;3.02;3.02	2.47	0.106	0.14540	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.248184	0.28279	N	0.015925	T	0.04048	0.0113	L	0.42686	1.345	0.09310	N	0.999998	D	0.59357	0.985	P	0.50754	0.649	T	0.39482	-0.9612	10	0.40728	T	0.16	.	7.7203	0.28729	0.0:0.4785:0.5215:0.0	.	174	O75015	FCG3B_HUMAN	A	174;174;210	ENSP00000356941:G174A;ENSP00000294800:G174A;ENSP00000433642:G210A	ENSP00000294800:G174A	G	-	2	0	FCGR3B	159862615	0.025000	0.19082	0.376000	0.26042	0.058000	0.15608	0.792000	0.26929	0.352000	0.24053	0.393000	0.25936	GGG	FCGR3B	-	smart_Ig_sub	ENSG00000162747		0.463	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	FCGR3B	HGNC	protein_coding		-	0.00	185	0	C	NM_000569		161595991	-1	tier1	-	no_errors	ENST00000294800	ensembl	human	known	74_37	missense	7.37	176	14	SNP	0.089	G
FMO9P	116123	genome.wustl.edu	37	1	166592888	166592888	+	RNA	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:166592888G>T	ENST00000477875.1	+	0	912					NR_002925.2				flavin containing monooxygenase 9 pseudogene																		CAGGCATTGAGAAATTTGAAG	0.383																																																	0																																												0			BC014341		1q24.1	2011-08-04			ENSG00000215834	ENSG00000215834			32210	pseudogene	pseudogene						15077013	Standard	NR_002925		Approved	RP11-45J16.2	uc010pld.2		OTTHUMG00000078309		1.37:g.166592888G>T				RNA	SNP	-	NULL	ENST00000477875.1	37	NULL		1																																																																																			FMO9P	-	-	ENSG00000215834		0.383	FMO9P-002	KNOWN	basic	processed_transcript	FMO9P	HGNC	pseudogene	OTTHUMT00000081454.1	-	0.00	101	0	G	NR_002925		166592888	+1	tier1	-	no_errors	ENST00000477875	ensembl	human	known	74_37	rna	31.51	50	23	SNP	0.972	T
GABRA5	2558	genome.wustl.edu	37	15	27193280	27193280	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:27193280G>T	ENST00000335625.5	+	11	2177	c.1289G>T	c.(1288-1290)cGa>cTa	p.R430L	GABRA5_ENST00000355395.5_Missense_Mutation_p.R430L|GABRA5_ENST00000400081.3_Missense_Mutation_p.R430L	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	430					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AAAATGTCCCGAATCGTATTC	0.418																																																	0													43.0	41.0	42.0					15																	27193280		1836	4094	5930	SO:0001583	missense	0				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1289G>T	15.37:g.27193280G>T	ENSP00000335592:p.Arg430Leu		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R430L	ENST00000335625.5	37	c.1289	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954783	0.92726	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.84298	-1.83;-1.83;-1.83	5.06	5.06	0.68205	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93595	0.7955	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94674	0.7859	10	0.87932	D	0	.	17.7689	0.88486	0.0:0.0:1.0:0.0	.	430	P31644	GBRA5_HUMAN	L	430	ENSP00000335592:R430L;ENSP00000347557:R430L;ENSP00000382953:R430L	ENSP00000335592:R430L	R	+	2	0	GABRA5	24776026	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.592000	0.98245	2.503000	0.84419	0.655000	0.94253	CGA	GABRA5	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000186297		0.418	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1		0.00	82	0	G			27193280	+1			no_errors	ENST00000335625	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T
GIPR	2696	genome.wustl.edu	37	19	46176172	46176172	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:46176172A>T	ENST00000590918.1	+	5	443	c.344A>T	c.(343-345)cAt>cTt	p.H115L	MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Missense_Mutation_p.H115L|GIPR_ENST00000304207.8_Missense_Mutation_p.H79L	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	115					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGGAGAGACCATACACAATGT	0.517																																																	0													118.0	101.0	107.0					19																	46176172		2203	4300	6503	SO:0001583	missense	0				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.344A>T	19.37:g.46176172A>T	ENSP00000467494:p.His115Leu		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.H115L	ENST00000590918.1	37	c.344	CCDS12671.1	19	.	.	.	.	.	.	.	.	.	.	A	9.554	1.116595	0.20795	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.50548	0.74;0.74	4.81	4.81	0.61882	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.52532	D	0.000076	T	0.50684	0.1630	L	0.31420	0.93	0.46774	D	0.999198	B;D;B	0.89917	0.042;1.0;0.02	B;D;B	0.91635	0.07;0.999;0.018	T	0.40924	-0.9537	10	0.11182	T	0.66	.	10.6792	0.45804	1.0:0.0:0.0:0.0	.	79;115;115	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	L	115;79	ENSP00000263281:H115L;ENSP00000305321:H79L	ENSP00000263281:H115L	H	+	2	0	GIPR	50868012	1.000000	0.71417	0.996000	0.52242	0.859000	0.49053	5.246000	0.65411	2.025000	0.59659	0.459000	0.35465	CAT	GIPR	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom	ENSG00000010310		0.517	GIPR-001	KNOWN	basic|CCDS	protein_coding	GIPR	HGNC	protein_coding	OTTHUMT00000459640.1	-	0.00	56	0	A			46176172	+1	tier1	-	no_errors	ENST00000590918	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.999	T
GJA3	2700	genome.wustl.edu	37	13	20717062	20717062	+	Silent	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr13:20717062G>T	ENST00000241125.3	-	2	542	c.366C>A	c.(364-366)ccC>ccA	p.P122P		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	122					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GTGGCTCCTTGGGGCTGGGGC	0.632																																																	0													17.0	19.0	18.0					13																	20717062		2184	4286	6470	SO:0001819	synonymous_variant	0			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.366C>A	13.37:g.20717062G>T			Q0VAB7|Q9H537	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46	p.P122	ENST00000241125.3	37	c.366	CCDS9289.1	13																																																																																			GJA3	-	NULL	ENSG00000121743		0.632	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA3	HGNC	protein_coding	OTTHUMT00000044059.3	-	0.00	45	0	G	NM_021954		20717062	-1	tier1	-	no_errors	ENST00000241125	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.000	T
GLP2R	9340	genome.wustl.edu	37	17	9745813	9745813	+	Splice_Site	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:9745813G>T	ENST00000262441.5	+	4	897	c.384G>T	c.(382-384)gaG>gaT	p.E128D	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	128					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.E128D(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TACTTTCAGAGAGCTCAGGAA	0.532																																																	1	Substitution - Missense(1)	lung(1)											94.0	79.0	84.0					17																	9745813		2203	4300	6503	SO:0001630	splice_region_variant	0			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.383-1G>T	17.37:g.9745813G>T			Q4VAT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E128D	ENST00000262441.5	37	c.384	CCDS11150.1	17	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479585	0.26511	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.49720	0.77	4.93	2.82	0.32997	GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.38663	N	0.001617	T	0.22975	0.0555	N	0.13371	0.34	0.26582	N	0.973356	B	0.20261	0.043	B	0.26094	0.066	T	0.15521	-1.0434	10	0.09338	T	0.73	.	3.4622	0.07537	0.2687:0.209:0.5223:0.0	.	128	O95838	GLP2R_HUMAN	D	128;103;128	ENSP00000262441:E128D	ENSP00000262441:E128D	E	+	3	2	GLP2R	9686538	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.277000	0.43417	1.320000	0.45209	0.561000	0.74099	GAG	GLP2R	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000065325		0.532	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	HGNC	protein_coding	OTTHUMT00000252601.4		0.00	53	0	G		Missense_Mutation	9745813	+1			no_errors	ENST00000262441	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
GNL1	2794	genome.wustl.edu	37	6	30522353	30522353	+	Splice_Site	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:30522353G>T	ENST00000376621.3	-	5	1569	c.599C>A	c.(598-600)cCa>cAa	p.P200Q	PRR3_ENST00000376560.3_5'Flank|PRR3_ENST00000376557.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	200	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGTACTCACTGGATGTCGGAT	0.493																																																	0													115.0	121.0	119.0					6																	30522353		1509	2709	4218	SO:0001630	splice_region_variant	0				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.600+1C>A	6.37:g.30522353G>T			B0S838|Q96CT5	Missense_Mutation	SNP	pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.P200Q	ENST00000376621.3	37	c.599	CCDS4680.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649774	0.87958	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126;ENST00000433809	T;T	0.16324	2.35;2.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.993;0.996	T	0.61831	-0.6982	10	0.87932	D	0	-36.1259	18.9061	0.92462	0.0:0.0:1.0:0.0	.	198;62;200	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	Q	200;22;62;198	ENSP00000365806:P200Q;ENSP00000404728:P198Q	ENSP00000365806:P200Q	P	-	2	0	GNL1	30630332	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.463000	0.73530	2.765000	0.95021	0.655000	0.94253	CCA	GNL1	-	superfamily_P-loop_NTPase	ENSG00000204590		0.493	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	HGNC	protein_coding	OTTHUMT00000076241.2	-	0.00	83	0	G		Missense_Mutation	30522353	-1	tier1	-	no_errors	ENST00000376621	ensembl	human	known	74_37	missense	15.29	72	13	SNP	1.000	T
GNPDA1	10007	genome.wustl.edu	37	5	141385743	141385743	+	Silent	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:141385743G>T	ENST00000508177.1	-	3	1133	c.375C>A	c.(373-375)atC>atA	p.I125I	GNPDA1_ENST00000311337.6_Silent_p.I125I|GNPDA1_ENST00000513454.1_Silent_p.I125I|GNPDA1_ENST00000503794.1_Silent_p.I125I|GNPDA1_ENST00000500692.2_Silent_p.I125I|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000458112.2_Silent_p.I91I			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	125					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGCCTTGATCTTCTCTT	0.512																																																	0													248.0	208.0	221.0					5																	141385743		2203	4300	6503	SO:0001819	synonymous_variant	0			AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.375C>A	5.37:g.141385743G>T			B7Z3X4|D3DQE7	Silent	SNP	pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase	p.I125	ENST00000508177.1	37	c.375	CCDS4272.1	5																																																																																			GNPDA1	-	pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase	ENSG00000113552		0.512	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPDA1	HGNC	protein_coding	OTTHUMT00000370631.1	-	0.00	55	0	G	NM_005471		141385743	-1	tier1	-	no_errors	ENST00000311337	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.987	T
GOLGA8H	728498	genome.wustl.edu	37	15	30906226	30906226	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:30906226C>G	ENST00000566740.1	+	17	1540	c.1540C>G	c.(1540-1542)Cag>Gag	p.Q514E	RP11-932O9.7_ENST00000501830.2_RNA|RN7SL628P_ENST00000473920.2_RNA|AC026150.1_ENST00000408431.1_RNA|RP11-932O9.9_ENST00000602594.1_lincRNA			P0CJ92	GOG8H_HUMAN	golgin A8 family, member H	514						Golgi apparatus (GO:0005794)											AGGACACCATCAGGCTGGAGC	0.642																																																	0																																										SO:0001583	missense	0				CCDS61576.1	15q13.2	2012-10-05			ENSG00000261794	ENSG00000261794			37443	protein-coding gene	gene with protein product	"""golgi autoantigen, golgin subfamily a, 6-like 11"""						Standard	NM_001282490		Approved	GOLGA6L11		P0CJ92	OTTHUMG00000175654	ENST00000566740.1:c.1540C>G	15.37:g.30906226C>G	ENSP00000456894:p.Gln514Glu			Missense_Mutation	SNP	NULL	p.Q514E	ENST00000566740.1	37	c.1540		15																																																																																			GOLGA8H	-	NULL	ENSG00000261794		0.642	GOLGA8H-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8H	HGNC	protein_coding	OTTHUMT00000430724.1	-	0.00	45	0	C	XM_001724395		30906226	+1	tier1	-	no_errors	ENST00000566740	ensembl	human	novel	74_37	missense	15.00	34	6	SNP	1.000	G
GPALPP1	55425	genome.wustl.edu	37	13	45602138	45602138	+	Splice_Site	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr13:45602138A>G	ENST00000361121.2	+	8	1058	c.1023A>G	c.(1021-1023)taA>taG	p.*341*	GPALPP1_ENST00000357537.3_Splice_Site_p.*171*|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000379151.4_Silent_p.*341*			Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	0																	TGTTTTTATAAGTAAGTATAT	0.289																																																	0													48.0	56.0	53.0					13																	45602138		2201	4296	6497	SO:0001630	splice_region_variant	0			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000361121.2:c.1020+1A>G	13.37:g.45602138A>G			A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Silent	SNP	pfam_DUF3752	p.*341	ENST00000361121.2	37	c.1023	CCDS9394.1	13																																																																																			GPALPP1	-	NULL	ENSG00000133114		0.289	GPALPP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPALPP1	HGNC	protein_coding		-	0.00	153	0	A	NM_018559	Silent	45602138	+1	tier1	-	no_errors	ENST00000361121	ensembl	human	known	74_37	silent	8.21	123	11	SNP	1.000	G
GPR125	166647	genome.wustl.edu	37	4	22390436	22390436	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:22390436delT	ENST00000334304.5	-	19	3127	c.2858delA	c.(2857-2859)aagfs	p.K953fs	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	953					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CGTGGGCTCCTTAAGCTCATA	0.423																																																	0													80.0	83.0	82.0					4																	22390436		2203	4300	6503	SO:0001589	frameshift_variant	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2858delA	4.37:g.22390436delT	ENSP00000334952:p.Lys953fs		Q6UXK9|Q86SQ5|Q8TC55	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.K953fs	ENST00000334304.5	37	c.2858	CCDS33964.1	4																																																																																			GPR125	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000152990		0.423	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3		0.00	63	0	T			22390436	-1	tier1		no_errors	ENST00000334304	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-
GPRASP1	9737	genome.wustl.edu	37	X	101912226	101912226	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:101912226C>G	ENST00000361600.5	+	5	4186	c.3385C>G	c.(3385-3387)Ctt>Gtt	p.L1129V	GPRASP1_ENST00000444152.1_Missense_Mutation_p.L1129V|GPRASP1_ENST00000537097.1_Missense_Mutation_p.L1129V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.L1129V	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1129	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCGAGAGCATCTTAGGGCCAA	0.443																																																	0													120.0	107.0	111.0					X																	101912226		2203	4300	6503	SO:0001583	missense	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3385C>G	X.37:g.101912226C>G	ENSP00000355146:p.Leu1129Val		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.L1129V	ENST00000361600.5	37	c.3385	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	6.678	0.493612	0.12702	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	2.74	1.79	0.24919	Armadillo-type fold (1);	.	.	.	.	T	0.27098	0.0664	L	0.57536	1.79	0.23174	N	0.998173	D	0.69078	0.997	D	0.78314	0.991	T	0.07927	-1.0747	9	0.33141	T	0.24	-5.4347	6.527	0.22307	0.0:0.7011:0.2989:0.0	.	1129	Q5JY77	GASP1_HUMAN	V	1129	ENSP00000393691:L1129V;ENSP00000409420:L1129V;ENSP00000355146:L1129V;ENSP00000445683:L1129V	ENSP00000355146:L1129V	L	+	1	0	GPRASP1	101798882	0.999000	0.42202	0.966000	0.40874	0.498000	0.33706	0.885000	0.28227	0.514000	0.28300	0.284000	0.19432	CTT	GPRASP1	-	superfamily_ARM-type_fold	ENSG00000198932		0.443	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	-	0.00	47	0	C	NM_014710		101912226	+1	tier1	-	no_errors	ENST00000361600	ensembl	human	known	74_37	missense	86.15	9	56	SNP	0.963	G
GRID2	2895	genome.wustl.edu	37	4	94128579	94128579	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:94128579T>C	ENST00000282020.4	+	5	1018	c.760T>C	c.(760-762)Ttt>Ctt	p.F254L	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.F159L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	254					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TTTGGTTGCTTTTGACTGTCA	0.318																																																	0													239.0	220.0	227.0					4																	94128579		2203	4300	6503	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.760T>C	4.37:g.94128579T>C	ENSP00000282020:p.Phe254Leu		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F254L	ENST00000282020.4	37	c.760	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053228	0.55218	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.82619	-1.63;-1.63	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86058	0.5842	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.53885	0.963;0.963	D;D	0.67231	0.95;0.95	D	0.87302	0.2306	10	0.59425	D	0.04	.	16.2237	0.82280	0.0:0.0:0.0:1.0	.	159;254	E9PH24;O43424	.;GRID2_HUMAN	L	254;159	ENSP00000282020:F254L;ENSP00000421257:F159L	ENSP00000282020:F254L	F	+	1	0	GRID2	94347602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.794000	0.75135	2.289000	0.77006	0.482000	0.46254	TTT	GRID2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152208		0.318	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	-	0.00	123	0	T			94128579	+1	tier1	-	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	10.75	83	10	SNP	1.000	C
GUCY1A2	2977	genome.wustl.edu	37	11	106856796	106856796	+	Splice_Site	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:106856796C>G	ENST00000526355.2	-	2	833	c.365G>C	c.(364-366)gGt>gCt	p.G122A	GUCY1A2_ENST00000282249.2_Splice_Site_p.G122A|GUCY1A2_ENST00000347596.2_Splice_Site_p.G122A	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	122					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TTTTACTTACCCAATAACTTG	0.338																																																	0													109.0	107.0	108.0					11																	106856796		2201	4298	6499	SO:0001630	splice_region_variant	0			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.365+1G>C	11.37:g.106856796C>G			A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G122A	ENST00000526355.2	37	c.365	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224007	0.58668	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86230	-1.77;-2.09;-1.77	5.32	5.32	0.75619	.	0.000000	0.40469	U	0.001094	D	0.86020	0.5833	L	0.36672	1.1	0.48395	D	0.999645	P;P;P	0.47762	0.9;0.879;0.664	P;P;B	0.49799	0.622;0.488;0.427	D	0.84606	0.0675	9	.	.	.	.	16.1006	0.81169	0.0:1.0:0.0:0.0	.	122;122;122	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	A	122	ENSP00000431245:G122A;ENSP00000282249:G122A;ENSP00000344874:G122A	.	G	-	2	0	GUCY1A2	106362006	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.050000	0.64251	2.654000	0.90174	0.557000	0.71058	GGT	GUCY1A2	-	NULL	ENSG00000152402		0.338	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	-	0.00	85	0	C		Missense_Mutation	106856796	-1	tier1	-	no_errors	ENST00000282249	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G
HDAC9	9734	genome.wustl.edu	37	7	18688191	18688191	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:18688191G>A	ENST00000432645.2	+	10	1343	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	HDAC9_ENST00000456174.2_Missense_Mutation_p.R420Q|HDAC9_ENST00000405010.3_Missense_Mutation_p.R448Q|HDAC9_ENST00000401921.1_Missense_Mutation_p.R407Q|HDAC9_ENST00000406451.4_Missense_Mutation_p.R448Q|HDAC9_ENST00000524023.1_Missense_Mutation_p.R371Q|HDAC9_ENST00000417496.2_Missense_Mutation_p.R446Q|HDAC9_ENST00000406072.1_Missense_Mutation_p.R435Q|HDAC9_ENST00000441542.2_Missense_Mutation_p.R451Q|HDAC9_ENST00000428307.2_Missense_Mutation_p.R404Q	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	448					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCCTGAACCGAACCCAGTCT	0.517																																																	0													76.0	78.0	77.0					7																	18688191		1976	4139	6115	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1343G>A	7.37:g.18688191G>A	ENSP00000410337:p.Arg448Gln		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R451Q	ENST00000432645.2	37	c.1352	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987857	0.93106	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.70516	-0.42;-0.27;-0.49;-0.41;-0.45;-0.47;-0.49;-0.49;-0.25;-0.41	5.48	5.48	0.80851	.	0.000000	0.44688	D	0.000421	D	0.85978	0.5823	M	0.82517	2.595	0.53005	D	0.999968	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.995;0.999;0.994;1.0;0.995;0.997;0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999	P;P;P;D;P;P;D;D;D;D;D;D;P;D	0.77557	0.462;0.886;0.663;0.959;0.462;0.744;0.978;0.975;0.99;0.941;0.978;0.99;0.905;0.978	D	0.87634	0.2518	10	0.87932	D	0	-29.3006	19.3488	0.94376	0.0:0.0:1.0:0.0	.	371;420;448;435;446;448;451;407;451;448;420;448;448;426	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	Q	446;449;448;448;404;435;407;448;451;420;371;448	ENSP00000401669:R446Q;ENSP00000384382:R448Q;ENSP00000384657:R448Q;ENSP00000395655:R404Q;ENSP00000384017:R435Q;ENSP00000383912:R407Q;ENSP00000410337:R448Q;ENSP00000408617:R451Q;ENSP00000388568:R420Q;ENSP00000430036:R371Q	ENSP00000262069:R449Q	R	+	2	0	HDAC9	18654716	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.337000	0.79256	2.584000	0.87258	0.557000	0.71058	CGA	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.517	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0.00	83	0	G			18688191	+1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	missense	15.19	67	12	SNP	1.000	A
HERC2P9	440248	genome.wustl.edu	37	15	28929491	28929491	+	RNA	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:28929491C>T	ENST00000528584.1	+	0	2028					NR_036443.1				hect domain and RLD 2 pseudogene 9																		TCCTCAGGTTCCCAGCACTCC	0.522																																																	0																																												0			BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28929491C>T				RNA	SNP	-	NULL	ENST00000528584.1	37	NULL		15																																																																																			HERC2P9	-	-	ENSG00000206149		0.522	HERC2P9-002	KNOWN	basic	processed_transcript	HERC2P9	HGNC	pseudogene	OTTHUMT00000393268.1		0.00	56	0	C	NR_036443		28929491	+1			no_errors	ENST00000528584	ensembl	human	known	74_37	rna	8.33	33	3	SNP	1.000	T
HERC1	8925	genome.wustl.edu	37	15	64010784	64010784	+	Missense_Mutation	SNP	G	G	A	rs377537305		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:64010784G>A	ENST00000443617.2	-	21	4054	c.3967C>T	c.(3967-3969)Cgg>Tgg	p.R1323W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1323					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CATCTGTCCCGTGATGATGAC	0.363																																																	0								G	TRP/ARG	1,3683		0,1,1841	75.0	64.0	68.0		3967	0.8	1.0	15		68	0,8184		0,0,4092	no	missense	HERC1	NM_003922.3	101	0,1,5933	AA,AG,GG		0.0,0.0271,0.0084	probably-damaging	1323/4862	64010784	1,11867	1842	4092	5934	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3967C>T	15.37:g.64010784G>A	ENSP00000390158:p.Arg1323Trp		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R1323W	ENST00000443617.2	37	c.3967	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022339	0.75275	2.71E-4	0.0	ENSG00000103657	ENST00000443617	T	0.04156	3.69	5.5	0.844	0.18943	.	0.074111	0.49916	U	0.000137	T	0.06735	0.0172	L	0.44542	1.39	0.46774	D	0.999198	D	0.64830	0.994	P	0.44477	0.451	T	0.24190	-1.0167	10	0.87932	D	0	.	15.3178	0.74095	0.0:0.0:0.2121:0.7879	.	1323	Q15751	HERC1_HUMAN	W	1323	ENSP00000390158:R1323W	ENSP00000390158:R1323W	R	-	1	2	HERC1	61797837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.307000	0.43682	0.234000	0.21139	0.655000	0.94253	CGG	HERC1	-	NULL	ENSG00000103657		0.363	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0.00	76	0	G	NM_003922		64010784	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.996	A
HPS4	89781	genome.wustl.edu	37	22	26866727	26866727	+	Missense_Mutation	SNP	C	C	T	rs111522254		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr22:26866727C>T	ENST00000398145.2	-	7	1170	c.554G>A	c.(553-555)cGc>cAc	p.R185H	HPS4_ENST00000398141.1_Missense_Mutation_p.R180H|HPS4_ENST00000336873.5_Missense_Mutation_p.R185H|HPS4_ENST00000402105.3_Missense_Mutation_p.R180H	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	185					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GTGAGGCGAGCGCTGGCAGGT	0.567									Hermansky-Pudlak syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		18689	0.0		0.0	False		,,,				2504	0.001																0													54.0	50.0	51.0					22																	26866727		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.554G>A	22.37:g.26866727C>T	ENSP00000381213:p.Arg185His		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.R180H	ENST00000398145.2	37	c.539	CCDS13835.1	22	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016572	0.93404	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.94275	0.8161	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.94873	0.8032	10	0.87932	D	0	-29.2496	16.7503	0.85484	0.0:1.0:0.0:0.0	.	185;185;185;180;180	Q6ICH6;Q6P1K3;Q9NQG7;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.	H	185;180;180;185;185;185	ENSP00000381213:R185H;ENSP00000381210:R180H;ENSP00000384185:R180H;ENSP00000338457:R185H;ENSP00000415081:R185H	ENSP00000325840:R185H	R	-	2	0	HPS4	25196727	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	6.195000	0.72088	2.526000	0.85167	0.561000	0.74099	CGC	HPS4	-	NULL	ENSG00000100099		0.567	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	-	0.00	73	0	C	NM_022081		26866727	-1	tier1	rs111522254	no_errors	ENST00000398141	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.999	T
HUWE1	10075	genome.wustl.edu	37	X	53631641	53631641	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:53631641G>T	ENST00000342160.3	-	25	3108	c.2651C>A	c.(2650-2652)aCc>aAc	p.T884N	HUWE1_ENST00000218328.8_Missense_Mutation_p.T884N|HUWE1_ENST00000262854.6_Missense_Mutation_p.T884N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	884					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGCTGAGAGGGTAGCATCAGC	0.542																																																	0													88.0	67.0	75.0					X																	53631641		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2651C>A	X.37:g.53631641G>T	ENSP00000340648:p.Thr884Asn		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.T884N	ENST00000342160.3	37	c.2651	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916259	0.73098	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.43688	1.25;1.25;0.94	5.82	5.82	0.92795	.	0.412070	0.22986	N	0.053249	T	0.42854	0.1221	L	0.47716	1.5	0.58432	D	0.999999	D	0.54601	0.967	B	0.43386	0.418	T	0.38542	-0.9656	10	0.51188	T	0.08	.	17.7228	0.88357	0.0:0.0:1.0:0.0	.	884	Q7Z6Z7	HUWE1_HUMAN	N	884	ENSP00000340648:T884N;ENSP00000262854:T884N;ENSP00000218328:T884N	ENSP00000218328:T884N	T	-	2	0	HUWE1	53648366	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.197000	0.94985	2.458000	0.83093	0.600000	0.82982	ACC	HUWE1	-	NULL	ENSG00000086758		0.542	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0.00	46	0	G	XM_497119		53631641	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
IFT122	55764	genome.wustl.edu	37	3	129218827	129218827	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:129218827C>A	ENST00000348417.2	+	19	2368	c.2291C>A	c.(2290-2292)cCc>cAc	p.P764H	IFT122_ENST00000504021.1_Missense_Mutation_p.P640H|IFT122_ENST00000507564.1_Missense_Mutation_p.P756H|IFT122_ENST00000440957.2_Missense_Mutation_p.P555H|IFT122_ENST00000347300.2_Missense_Mutation_p.P705H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000296266.3_Missense_Mutation_p.P815H|IFT122_ENST00000431818.2_Missense_Mutation_p.P614H|IFT122_ENST00000349441.2_Missense_Mutation_p.P653H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	764					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATCAAGGAGCCCAAAGCCGCC	0.507																																																	0													138.0	131.0	133.0					3																	129218827		2203	4300	6503	SO:0001583	missense	0			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2291C>A	3.37:g.129218827C>A	ENSP00000324005:p.Pro764His		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P815H	ENST00000348417.2	37	c.2444	CCDS3061.1	3	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450881	0.63290	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.61627	0.75;0.09;0.23;0.27;0.85;0.88;0.73;0.3;0.88	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	L	0.52759	1.655	0.80722	D	1	D;D;D;P;P;B;B;P;D;D	0.89917	1.0;1.0;1.0;0.729;0.533;0.349;0.349;0.663;1.0;1.0	D;D;D;B;B;B;B;B;D;D	0.91635	0.999;0.997;0.997;0.316;0.188;0.143;0.143;0.346;0.998;0.999	T	0.64071	-0.6493	10	0.16420	T	0.52	-22.6318	18.4268	0.90612	0.0:1.0:0.0:0.0	.	555;90;756;151;640;604;653;705;764;815	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	705;815;756;705;614;640;653;764;604;555;261;126	ENSP00000323973:P705H;ENSP00000296266:P815H;ENSP00000425536:P756H;ENSP00000410946:P614H;ENSP00000422179:P640H;ENSP00000324165:P653H;ENSP00000324005:P764H;ENSP00000401569:P555H;ENSP00000424727:P261H	ENSP00000296266:P815H	P	+	2	0	IFT122	130701517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.549000	0.82163	2.338000	0.79540	0.655000	0.94253	CCC	IFT122	-	NULL	ENSG00000163913		0.507	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	-	0.00	87	0	C	NM_018262		129218827	+1	tier1	-	no_errors	ENST00000296266	ensembl	human	known	74_37	missense	25.95	137	48	SNP	1.000	A
INHBE	83729	genome.wustl.edu	37	12	57849593	57849593	+	Missense_Mutation	SNP	G	G	T	rs374068733		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:57849593G>T	ENST00000266646.2	+	1	490	c.274G>T	c.(274-276)Gtc>Ttc	p.V92F	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	92					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TGGGGAGGAGGTCATCAGCTT	0.607											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)												0								G	PHE/VAL	0,4406		0,0,2203	57.0	63.0	61.0		274	1.4	1.0	12		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	INHBE	NM_031479.3	50	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	92/351	57849593	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.274G>T	12.37:g.57849593G>T	ENSP00000266646:p.Val92Phe	1026		Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu	p.V92F	ENST00000266646.2	37	c.274	CCDS8939.1	12	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509306	0.64522	0.0	1.16E-4	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.84730	-1.89;-1.02	4.4	1.41	0.22369	Transforming growth factor-beta, N-terminal (1);	0.119937	0.53938	D	0.000054	T	0.81786	0.4896	M	0.65975	2.015	0.31578	N	0.6555	P	0.38250	0.624	B	0.41332	0.354	T	0.80369	-0.1411	10	0.66056	D	0.02	-4.6066	5.5018	0.16833	0.3819:0.0:0.6181:0.0	.	92	P58166	INHBE_HUMAN	F	37;92	ENSP00000450212:V37F;ENSP00000266646:V92F	ENSP00000266646:V92F	V	+	1	0	INHBE	56135860	0.995000	0.38212	0.998000	0.56505	0.999000	0.98932	0.735000	0.26115	0.527000	0.28560	0.655000	0.94253	GTC	INHBE	-	pfam_TGF-b_N	ENSG00000139269		0.607	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBE	HGNC	protein_coding	OTTHUMT00000406773.1	-	0.00	51	0	G	NM_031479		57849593	+1	tier1	-	no_errors	ENST00000266646	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.994	T
INTS1	26173	genome.wustl.edu	37	7	1520578	1520578	+	Intron	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:1520578C>T	ENST00000404767.3	-	29	3936				INTS1_ENST00000389470.4_Missense_Mutation_p.R1480Q	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1						inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCTGCAAACCGTAGCAGGGT	0.652																																																	0													12.0	16.0	15.0					7																	1520578		1988	4137	6125	SO:0001627	intron_variant	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3851-9G>A	7.37:g.1520578C>T			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.R1480Q	ENST00000404767.3	37	c.4439	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303323	0.23736	.	.	ENSG00000164880	ENST00000389470	T	0.49432	0.78	4.2	0.339	0.15979	.	.	.	.	.	T	0.32734	0.0839	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25047	-1.0143	5	.	.	.	.	4.8493	0.13530	0.5182:0.3784:0.1034:0.0	.	.	.	.	Q	1480	ENSP00000374121:R1480Q	.	R	-	2	0	INTS1	1487104	.	.	0.001000	0.08648	0.138000	0.21146	.	.	-0.086000	0.12550	-0.376000	0.06991	CGG	INTS1	-	NULL	ENSG00000164880		0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	-	0.00	26	0	C			1520578	-1	tier1	-	no_errors	ENST00000389470	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.004	T
IRAK1BP1	134728	genome.wustl.edu	37	6	79577392	79577392	+	Silent	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:79577392G>T	ENST00000369940.2	+	1	204	c.99G>T	c.(97-99)acG>acT	p.T33T		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	33	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		GGAGAGAGACGCTACCGGGCT	0.622																																																	0													63.0	63.0	63.0					6																	79577392		2203	4300	6503	SO:0001819	synonymous_variant	0			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.99G>T	6.37:g.79577392G>T				Silent	SNP	pfam_DUF541	p.T33	ENST00000369940.2	37	c.99	CCDS34488.1	6																																																																																			IRAK1BP1	-	NULL	ENSG00000146243		0.622	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1BP1	HGNC	protein_coding	OTTHUMT00000041296.2	-	0.00	120	0	G	XM_059729		79577392	+1	tier1	-	no_errors	ENST00000369940	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.001	T
IRS4	8471	genome.wustl.edu	37	X	107976076	107976076	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:107976076C>A	ENST00000372129.2	-	1	3575	c.3499G>T	c.(3499-3501)Gct>Tct	p.A1167S	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1167	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCAGCATTAGCAACAGGTTGA	0.642																																																	0													52.0	57.0	55.0					X																	107976076		2194	4286	6480	SO:0001583	missense	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3499G>T	X.37:g.107976076C>A	ENSP00000361202:p.Ala1167Ser			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.A1167S	ENST00000372129.2	37	c.3499	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058419	0.76074	.	.	ENSG00000133124	ENST00000372129	T	0.46063	0.88	4.49	4.49	0.54785	.	0.457681	0.18601	N	0.136451	T	0.32346	0.0826	L	0.27053	0.805	0.28795	N	0.899112	P	0.51057	0.941	P	0.44561	0.453	T	0.11542	-1.0583	10	0.34782	T	0.22	-1.611	11.4369	0.50072	0.0:1.0:0.0:0.0	.	1167	O14654	IRS4_HUMAN	S	1167	ENSP00000361202:A1167S	ENSP00000361202:A1167S	A	-	1	0	IRS4	107862732	0.994000	0.37717	0.978000	0.43139	0.878000	0.50629	1.767000	0.38501	2.471000	0.83476	0.600000	0.82982	GCT	IRS4	-	NULL	ENSG00000133124		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	-	0.00	51	0	C	NM_003604		107976076	-1	tier1	-	no_errors	ENST00000372129	ensembl	human	known	74_37	missense	76.19	10	32	SNP	0.974	A
ITPRIP	85450	genome.wustl.edu	37	10	106074980	106074980	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:106074980G>A	ENST00000337478.1	-	2	1001	c.830C>T	c.(829-831)gCg>gTg	p.A277V	ITPRIP_ENST00000358187.2_Missense_Mutation_p.A277V|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.A277V	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	277						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCAGGGAGGCGCCATGCTGTT	0.607																																																	0													51.0	52.0	52.0					10																	106074980		2203	4300	6503	SO:0001583	missense	0			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.830C>T	10.37:g.106074980G>A	ENSP00000337178:p.Ala277Val		D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	NULL	p.A277V	ENST00000337478.1	37	c.830	CCDS7557.1	10	.	.	.	.	.	.	.	.	.	.	G	2.933	-0.220646	0.06061	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.23147	1.92;1.92;1.92	5.11	-10.2	0.00374	.	1.069040	0.07181	N	0.854075	T	0.13670	0.0331	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31586	-0.9938	10	0.42905	T	0.14	-1.4144	10.7259	0.46068	0.1614:0.0807:0.6772:0.0808	.	277	Q8IWB1	IPRI_HUMAN	V	277	ENSP00000337178:A277V;ENSP00000278071:A277V;ENSP00000350915:A277V	ENSP00000278071:A277V	A	-	2	0	ITPRIP	106064970	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.427000	0.02441	-2.124000	0.00822	-0.440000	0.05779	GCG	ITPRIP	-	NULL	ENSG00000148841		0.607	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIP	HGNC	protein_coding	OTTHUMT00000050204.1	-	0.00	27	0	G	NM_033397		106074980	-1	tier1	-	no_errors	ENST00000278071	ensembl	human	known	74_37	missense	48.57	18	17	SNP	0.000	A
KDM6B	23135	genome.wustl.edu	37	17	7748333	7748333	+	5'UTR	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:7748333G>A	ENST00000448097.2	+	0	178				KDM6B_ENST00000254846.5_5'UTR			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B						cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTCCCACGGAGGCCGGGTAAG	0.652																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.-154G>A	17.37:g.7748333G>A			C9IZ40|Q96G33	RNA	SNP	-	NULL	ENST00000448097.2	37	NULL		17																																																																																			KDM6B	-	-	ENSG00000132510		0.652	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	-	0.00	66	0	G	XM_043272		7748333	+1	tier1	-	no_errors	ENST00000571047	ensembl	human	known	74_37	rna	11.90	37	5	SNP	1.000	A
KLF10	7071	genome.wustl.edu	37	8	103663830	103663830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:103663830G>A	ENST00000285407.6	-	3	1030	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	KLF10_ENST00000395884.3_Nonsense_Mutation_p.Q233*	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	244					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GGGGCTGGCTGAGACCTGCAG	0.527											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)												0													90.0	79.0	83.0					8																	103663830		2203	4300	6503	SO:0001587	stop_gained	0			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.730C>T	8.37:g.103663830G>A	ENSP00000285407:p.Gln244*	1375	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q244*	ENST00000285407.6	37	c.730	CCDS6294.1	8	.	.	.	.	.	.	.	.	.	.	G	41	8.859870	0.98980	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	.	.	.	5.77	5.77	0.91146	.	0.164912	0.42964	D	0.000640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	16.6198	0.84927	0.0:0.1978:0.8022:0.0	.	.	.	.	X	244;233	.	ENSP00000285407:Q244X	Q	-	1	0	KLF10	103733006	0.908000	0.30866	0.589000	0.28718	0.174000	0.22865	2.131000	0.42074	2.728000	0.93425	0.655000	0.94253	CAG	KLF10	-	NULL	ENSG00000155090		0.527	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF10	HGNC	protein_coding	OTTHUMT00000379967.1	-	0.00	68	0	G			103663830	-1	tier1	-	no_errors	ENST00000285407	ensembl	human	known	74_37	nonsense	43.84	41	32	SNP	0.148	A
KRT33B	3884	genome.wustl.edu	37	17	39521427	39521427	+	Splice_Site	SNP	C	C	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:39521427C>A	ENST00000251646.3	-	5	925	c.876G>T	c.(874-876)ctG>ctT	p.L292L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	292	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CAATACACACCAGGTTGTGCT	0.577																																																	0													61.0	57.0	58.0					17																	39521427		2190	4296	6486	SO:0001630	splice_region_variant	0			X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.876+1G>T	17.37:g.39521427C>A			O76010	Silent	SNP	pfam_IF,prints_Keratin_I	p.L292	ENST00000251646.3	37	c.876	CCDS11389.1	17																																																																																			KRT33B	-	pfam_IF,prints_Keratin_I	ENSG00000131738		0.577	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33B	HGNC	protein_coding	OTTHUMT00000257292.1	-	0.00	102	0	C	NM_002279	Silent	39521427	-1	tier1	-	no_errors	ENST00000251646	ensembl	human	known	74_37	silent	32.69	70	34	SNP	1.000	A
KTN1	3895	genome.wustl.edu	37	14	56078803	56078803	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:56078803A>G	ENST00000395314.3	+	2	105	c.37A>G	c.(37-39)Att>Gtt	p.I13V	KTN1_ENST00000395308.1_Missense_Mutation_p.I13V|KTN1_ENST00000413890.2_Missense_Mutation_p.I13V|KTN1_ENST00000395309.3_Missense_Mutation_p.I13V|KTN1_ENST00000438792.2_Missense_Mutation_p.I13V|KTN1_ENST00000416613.1_Missense_Mutation_p.I13V|KTN1_ENST00000395311.1_Missense_Mutation_p.I13V	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	13					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TATTGTTCTTATTCCTTCAAT	0.303			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													58.0	64.0	62.0					14																	56078803		2199	4299	6498	SO:0001583	missense	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.37A>G	14.37:g.56078803A>G	ENSP00000378725:p.Ile13Val		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.I13V	ENST00000395314.3	37	c.37	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525210	0.27299	.	.	ENSG00000126777	ENST00000557267;ENST00000413890;ENST00000395309;ENST00000555498;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.49	4.35	0.52113	.	0.000000	0.52532	D	0.000062	D	0.96639	0.8903	N	0.08118	0	0.31906	N	0.61527	B;D;B;B	0.57899	0.042;0.981;0.042;0.148	B;D;B;B	0.72075	0.035;0.976;0.035;0.037	D	0.93783	0.7085	10	0.19147	T	0.46	-11.1821	7.2317	0.26046	0.7792:0.0:0.2208:0.0	.	13;13;13;13	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	V	13	ENSP00000451641:I13V;ENSP00000394992:I13V;ENSP00000378720:I13V;ENSP00000451878:I13V;ENSP00000391964:I13V;ENSP00000378725:I13V;ENSP00000378719:I13V;ENSP00000378722:I13V;ENSP00000388807:I13V	ENSP00000378719:I13V	I	+	1	0	KTN1	55148556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.050000	0.57404	2.074000	0.62210	0.482000	0.46254	ATT	KTN1	-	NULL	ENSG00000126777		0.303	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	-	0.00	93	0	A			56078803	+1	tier1	-	no_errors	ENST00000395309	ensembl	human	known	74_37	missense	6.67	70	5	SNP	1.000	G
LAMB1	3912	genome.wustl.edu	37	7	107638866	107638866	+	Silent	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:107638866G>A	ENST00000222399.6	-	4	515	c.285C>T	c.(283-285)ctC>ctT	p.L95L	LAMB1_ENST00000393561.1_Silent_p.L119L|U3_ENST00000458938.1_RNA|LAMB1_ENST00000393560.1_Silent_p.L95L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	95	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CATTTTCAATGAGATGGCTGT	0.423																																																	0													167.0	141.0	149.0					7																	107638866		2203	4300	6503	SO:0001819	synonymous_variant	0			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.285C>T	7.37:g.107638866G>A			Q14D91	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L95	ENST00000222399.6	37	c.285	CCDS5750.1	7																																																																																			LAMB1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000091136		0.423	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	-	0.00	109	0	G	NM_002291		107638866	-1	tier1	-	no_errors	ENST00000222399	ensembl	human	known	74_37	silent	43.75	72	56	SNP	1.000	A
LMLN	89782	genome.wustl.edu	37	3	197765629	197765629	+	3'UTR	SNP	G	G	A	rs369637343		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:197765629G>A	ENST00000330198.4	+	0	2081				LMLN_ENST00000420910.2_3'UTR|LMLN-AS1_ENST00000423460.1_RNA	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)						cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTATGCAGATGGTAGAAGTGG	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		23346	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001624	3_prime_UTR_variant	0			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.*91G>A	3.37:g.197765629G>A			B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	RNA	SNP	-	NULL	ENST00000330198.4	37	NULL	CCDS3332.1	3																																																																																			LMLN-AS1	-	-	ENSG00000232832		0.443	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN-AS1	HGNC	protein_coding	OTTHUMT00000339701.1	-	0.00	25	0	G	NM_033029		197765629	-1	tier1	-	no_errors	ENST00000423460	ensembl	human	known	74_37	rna	40.00	30	20	SNP	0.002	A
LNPEP	4012	genome.wustl.edu	37	5	96339190	96339190	+	Silent	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:96339190C>T	ENST00000231368.5	+	9	2417	c.1725C>T	c.(1723-1725)taC>taT	p.Y575Y	LNPEP_ENST00000395770.3_Silent_p.Y561Y	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	575					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGTCCTTTACCTGCATAATC	0.338																																																	0													178.0	164.0	169.0					5																	96339190		2203	4300	6503	SO:0001819	synonymous_variant	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1725C>T	5.37:g.96339190C>T			O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Y575	ENST00000231368.5	37	c.1725	CCDS4087.1	5																																																																																			LNPEP	-	NULL	ENSG00000113441		0.338	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	-	0.00	65	0	C	NM_005575		96339190	+1	tier1	-	no_errors	ENST00000231368	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T
LOC100287934	100287934	genome.wustl.edu	37	1	722023	722023	+	lincRNA	DEL	T	T	-			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:722023delT	ENST00000591702.1	+	0	844																											tttccccctatgtttcttaca	0.348																																																	0																																												0																															1.37:g.722023delT				RNA	DEL	-	NULL	ENST00000591702.1	37	NULL		1																																																																																			RP11-206L10.9	-	-	ENSG00000237491		0.348	RP11-206L10.9-020	KNOWN	basic	lincRNA	LOC101930657	Clone_based_vega_gene	lincRNA	OTTHUMT00000459872.1		0.00	13	0	T			722023	+1			no_errors	ENST00000358533	ensembl	human	known	74_37	rna	35.00	13	7	DEL	0.062	0
LRP1B	53353	genome.wustl.edu	37	2	142567879	142567879	+	Silent	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:142567879G>A	ENST00000389484.3	-	2	1145	c.174C>T	c.(172-174)tgC>tgT	p.C58C	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	58	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCATCAGGGCAGTCAGGGT	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													63.0	59.0	60.0					2																	142567879		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.174C>T	2.37:g.142567879G>A			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C58	ENST00000389484.3	37	c.174	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	100	0	G	NM_018557		142567879	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	A
LRP6	4040	genome.wustl.edu	37	12	12284914	12284914	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:12284914C>T	ENST00000261349.4	-	18	3887	c.3811G>A	c.(3811-3813)Gat>Aat	p.D1271N	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1271	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D1271H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTAAACCCATCGCACCGCCAA	0.488																																																	1	Substitution - Missense(1)	endometrium(1)											103.0	91.0	95.0					12																	12284914		2203	4300	6503	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3811G>A	12.37:g.12284914C>T	ENSP00000261349:p.Asp1271Asn		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D1271N	ENST00000261349.4	37	c.3811	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.425203	0.96131	.	.	ENSG00000070018	ENST00000261349	D	0.98362	-4.89	5.92	5.92	0.95590	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000006	D	0.98890	0.9624	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99282	1.0896	10	0.49607	T	0.09	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	1271	O75581	LRP6_HUMAN	N	1271	ENSP00000261349:D1271N	ENSP00000261349:D1271N	D	-	1	0	LRP6	12176181	1.000000	0.71417	0.971000	0.41717	0.830000	0.47004	7.487000	0.81328	2.795000	0.96236	0.655000	0.94253	GAT	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000070018		0.488	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	-	0.00	50	0	C			12284914	-1	tier1	-	no_errors	ENST00000261349	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
LRRC37A2	474170	genome.wustl.edu	37	17	44632542	44632542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:44632542G>A	ENST00000576629.1	+	13	5379	c.4884G>A	c.(4882-4884)tgG>tgA	p.W1628*	LRRC37A2_ENST00000333412.3_Nonsense_Mutation_p.W1628*|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000336125.5_3'UTR|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1628				W -> R (in Ref. 2; AAI44428). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TTCTGCCATGGAGGGGATGCT	0.483																																																	0													6.0	10.0	9.0					17																	44632542		1769	3924	5693	SO:0001587	stop_gained	0			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4884G>A	17.37:g.44632542G>A	ENSP00000459551:p.Trp1628*		B7ZMC3	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.W1628*	ENST00000576629.1	37	c.4884	CCDS42353.1	17	.	.	.	.	.	.	.	.	.	.	g	42	9.784136	0.99263	.	.	ENSG00000238083	ENST00000333412	.	.	.	2.28	-2.06	0.07298	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.1266	0.10129	0.0:0.2803:0.4068:0.3128	.	.	.	.	X	1628	.	ENSP00000333071:W1628X	W	+	3	0	LRRC37A2	41987858	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.150000	0.01290	-1.019000	0.03358	-1.903000	0.00527	TGG	LRRC37A2	-	NULL	ENSG00000238083		0.483	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	-	0.00	30	0	G	NM_001006607		44632542	+1	tier1	-	no_errors	ENST00000333412	ensembl	human	known	74_37	nonsense	31.82	15	7	SNP	0.000	A
LTBP1	4052	genome.wustl.edu	37	2	33488449	33488449	+	Silent	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:33488449T>C	ENST00000404816.2	+	15	2960	c.2607T>C	c.(2605-2607)acT>acC	p.T869T	LTBP1_ENST00000407925.1_Silent_p.T543T|LTBP1_ENST00000418533.2_Silent_p.T543T|LTBP1_ENST00000390003.4_Silent_p.T544T|LTBP1_ENST00000402934.1_Silent_p.T490T|LTBP1_ENST00000404525.1_Silent_p.T490T|LTBP1_ENST00000354476.3_Silent_p.T870T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	869					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTGCTCCTACTCAAGTGACAG	0.413																																																	0													128.0	122.0	124.0					2																	33488449		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2607T>C	2.37:g.33488449T>C			A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.T870	ENST00000404816.2	37	c.2610	CCDS33177.2	2																																																																																			LTBP1	-	NULL	ENSG00000049323		0.413	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2		0.00	51	0	T	NM_206943		33488449	+1			no_errors	ENST00000354476	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	C
MACF1	23499	genome.wustl.edu	37	1	39893941	39893941	+	Intron	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:39893941G>A	ENST00000372915.3	+	61	16578				MACF1_ENST00000545844.1_Silent_p.R3533R|MACF1_ENST00000317713.7_Silent_p.R3533R|MACF1_ENST00000567887.1_Silent_p.R5632R|MACF1_ENST00000289893.4_Silent_p.R4035R|MACF1_ENST00000361689.2_Silent_p.R3533R|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Silent_p.R5595R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						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)			TCCTGCACAGGCAGCATGCTG	0.403																																																	0													61.0	53.0	56.0					1																	39893941		2203	4299	6502	SO:0001627	intron_variant	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.16491+655G>A	1.37:g.39893941G>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R3533	ENST00000372915.3	37	c.10599		1																																																																																			MACF1	-	smart_Spectrin/alpha-actinin	ENSG00000127603		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0.00	70	0	G	NM_033044		39893941	+1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.999	A
MAP3K1	4214	genome.wustl.edu	37	5	56152526	56152526	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:56152526G>A	ENST00000399503.3	+	2	582	c.582G>A	c.(580-582)atG>atA	p.M194I	snoU13_ENST00000459264.1_RNA|AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	194					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAACCTGTATGCCAGCCTGGA	0.473																																																	0													129.0	132.0	131.0					5																	56152526		1921	4123	6044	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.582G>A	5.37:g.56152526G>A	ENSP00000382423:p.Met194Ile			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.M194I	ENST00000399503.3	37	c.582	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986633	0.93106	.	.	ENSG00000095015	ENST00000399503	T	0.72282	-0.64	5.62	4.74	0.60224	.	0.042518	0.85682	N	0.000000	T	0.61451	0.2348	L	0.29908	0.895	0.58432	D	0.999996	B	0.09022	0.002	B	0.08055	0.003	T	0.58797	-0.7573	10	0.59425	D	0.04	.	16.0977	0.81139	0.0:0.0:0.8649:0.1351	.	194	Q13233	M3K1_HUMAN	I	194	ENSP00000382423:M194I	ENSP00000382423:M194I	M	+	3	0	MAP3K1	56188283	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.325000	0.90007	1.469000	0.48083	0.650000	0.86243	ATG	MAP3K1	-	NULL	ENSG00000095015		0.473	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0.00	85	0	G	XM_042066		56152526	+1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	missense	26.15	48	17	SNP	1.000	A
MCM9	254394	genome.wustl.edu	37	6	119150251	119150251	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:119150251G>T	ENST00000316316.6	-	9	1774	c.1488C>A	c.(1486-1488)gaC>gaA	p.D496E	MCM9_ENST00000505485.1_5'UTR	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	496	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		TACGATCCCAGTCTTCATTCT	0.418																																																	0																																										SO:0001583	missense	0			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.1488C>A	6.37:g.119150251G>T	ENSP00000314505:p.Asp496Glu		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	p.D496E	ENST00000316316.6	37	c.1488	CCDS56447.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.423|2.423	-0.332664|-0.332664	0.05314|0.05314	.|.	.|.	ENSG00000111877|ENSG00000111877	ENST00000316316;ENST00000243218|ENST00000458674	T|.	0.10005|.	2.92|.	5.01|5.01	3.14|3.14	0.36123|0.36123	.|.	16.807400|.	0.01197|.	U|.	0.007471|.	T|T	0.07593|0.07593	0.0191|0.0191	N|N	0.02181|0.02181	-0.65|-0.65	0.80722|0.80722	D|D	1|1	B|.	0.15930|.	0.015|.	B|.	0.17098|.	0.017|.	T|T	0.09930|0.09930	-1.0652|-1.0652	10|5	0.14252|.	T|.	0.57|.	.|.	5.4958|5.4958	0.16802|0.16802	0.0758:0.1073:0.5731:0.2437|0.0758:0.1073:0.5731:0.2437	.|.	496|.	Q9NXL9|.	MCM9_HUMAN|.	E|M	496;115|56	ENSP00000314505:D496E|.	ENSP00000243218:D115E|.	D|L	-|-	3|1	2|2	MCM9|MCM9	119256943|119256943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.911000|0.911000	0.28584|0.28584	1.319000|1.319000	0.45190|0.45190	0.591000|0.591000	0.81541|0.81541	GAC|CTG	MCM9	-	pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	ENSG00000111877		0.418	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM9	HGNC	protein_coding	OTTHUMT00000042005.4	-	0.00	85	0	G	NM_153255		119150251	-1	tier1	-	no_errors	ENST00000316316	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.998	T
MED12L	116931	genome.wustl.edu	37	3	150804748	150804748	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:150804748G>A	ENST00000474524.1	+	1	73	c.35G>A	c.(34-36)aGa>aAa	p.R12K	MED12L_ENST00000309237.4_Missense_Mutation_p.R12K|MED12L_ENST00000273432.4_Missense_Mutation_p.R12K|MED12L_ENST00000422248.2_Missense_Mutation_p.R12K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	12						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATGAGCAGAGACCGCTGAAG	0.662																																																	0													8.0	12.0	11.0					3																	150804748		2178	4282	6460	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.35G>A	3.37:g.150804748G>A	ENSP00000417235:p.Arg12Lys		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.R12K	ENST00000474524.1	37	c.35	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181328	0.78677	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.64260	0.2;0.08;0.14;-0.09	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000006	T	0.72890	0.3517	L	0.46741	1.465	0.31550	N	0.658832	D;P;D;D	0.56035	0.974;0.956;0.974;0.974	D;P;D;D	0.67725	0.953;0.899;0.953;0.953	T	0.77443	-0.2586	10	0.87932	D	0	-13.4618	16.1187	0.81325	0.0:0.0:1.0:0.0	.	12;12;12;12	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	K	12	ENSP00000403308:R12K;ENSP00000310760:R12K;ENSP00000417235:R12K;ENSP00000273432:R12K	ENSP00000273432:R12K	R	+	2	0	MED12L	152287438	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.230000	0.89793	2.075000	0.62263	0.655000	0.94253	AGA	MED12L	-	NULL	ENSG00000144893		0.662	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0.00	25	0	G	NM_053002		150804748	+1			no_errors	ENST00000474524	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
MED19	219541	genome.wustl.edu	37	11	57472550	57472550	+	Silent	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:57472550A>G	ENST00000431606.2	-	2	398	c.369T>C	c.(367-369)gaT>gaC	p.D123D	MED19_ENST00000337672.2_Silent_p.D123D			A0JLT2	MED19_HUMAN	mediator complex subunit 19	123						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						GGCTGCTGTTATCATGGGAAC	0.507																																																	0													99.0	96.0	97.0					11																	57472550		2201	4296	6497	SO:0001819	synonymous_variant	0			AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"""mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"""			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.369T>C	11.37:g.57472550A>G			Q8IV02|Q8IZD1	Silent	SNP	pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34	p.D123	ENST00000431606.2	37	c.369		11																																																																																			MED19	-	pfam_Mediator_Med19_met	ENSG00000156603		0.507	MED19-002	KNOWN	basic|appris_principal	protein_coding	MED19	HGNC	protein_coding	OTTHUMT00000393702.1	-	0.00	91	0	A	NM_153450		57472550	-1	tier1	-	no_errors	ENST00000431606	ensembl	human	known	74_37	silent	15.66	70	13	SNP	0.995	G
MED28	80306	genome.wustl.edu	37	4	17634044	17634044	+	3'UTR	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:17634044A>G	ENST00000237380.7	+	0	9184				MED28_ENST00000499786.4_3'UTR|FAM184B_ENST00000265018.3_3'UTR	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)				lung(6)|skin(2)	8						GCTATCATATATAAATCATAA	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.*8623A>G	4.37:g.17634044A>G			Q9BZJ5	RNA	SNP	-	NULL	ENST00000237380.7	37	NULL	CCDS33963.1	4																																																																																			MED28	-	-	ENSG00000118579		0.383	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED28	HGNC	protein_coding	OTTHUMT00000360055.3	-	0.00	70	0	A	NM_025205		17634044	+1	tier1	-	no_errors	ENST00000499786	ensembl	human	known	74_37	rna	44.74	20	17	SNP	0.000	G
MEGF8	1954	genome.wustl.edu	37	19	42880227	42880227	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:42880227A>T	ENST00000251268.6	+	42	7838	c.7838A>T	c.(7837-7839)tAc>tTc	p.Y2613F	MEGF8_ENST00000378073.4_Missense_Mutation_p.Y207F|MEGF8_ENST00000334370.4_Missense_Mutation_p.Y2546F	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2613					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGCCGCTTCTACCTGCTGCTG	0.687																																																	0													47.0	46.0	46.0					19																	42880227		2203	4298	6501	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7838A>T	19.37:g.42880227A>T	ENSP00000251268:p.Tyr2613Phe		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.Y2613F	ENST00000251268.6	37	c.7838		19	.	.	.	.	.	.	.	.	.	.	A	12.25	1.881344	0.33255	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.35789	1.29;1.29	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000006	T	0.21145	0.0509	N	0.13272	0.32	0.49582	D	0.999809	B;B;B	0.29936	0.02;0.262;0.02	B;B;B	0.24701	0.023;0.055;0.035	T	0.07385	-1.0775	10	0.21014	T	0.42	-30.6656	13.6587	0.62354	1.0:0.0:0.0:0.0	.	207;2613;2546	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	F	2546;2613;207	ENSP00000334219:Y2546F;ENSP00000251268:Y2613F	ENSP00000251268:Y2613F	Y	+	2	0	MEGF8	47572067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.092000	0.64511	1.941000	0.56285	0.459000	0.35465	TAC	MEGF8	-	NULL	ENSG00000105429		0.687	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	-	0.00	23	0	A	NM_001410		42880227	+1	tier1	-	no_errors	ENST00000251268	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	T
MFAP3L	9848	genome.wustl.edu	37	4	170912904	170912904	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:170912904C>G	ENST00000361618.3	-	3	1162	c.855G>C	c.(853-855)gaG>gaC	p.E285D	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.E182D	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TTGTGTAGACCTCATCCCTGT	0.582																																																	0													55.0	54.0	54.0					4																	170912904		2203	4300	6503	SO:0001583	missense	0			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.855G>C	4.37:g.170912904C>G	ENSP00000354583:p.Glu285Asp		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E285D	ENST00000361618.3	37	c.855	CCDS34103.1	4	.	.	.	.	.	.	.	.	.	.	C	5.966	0.362283	0.11296	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.98060	-4.69;-1.7	5.53	2.72	0.32119	.	0.091491	0.85682	D	0.000000	D	0.92685	0.7675	L	0.32530	0.975	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	D	0.84752	0.0757	10	0.15952	T	0.53	-7.8483	4.2167	0.10539	0.1295:0.6036:0.1256:0.1413	.	285	O75121	MFA3L_HUMAN	D	182;285	ENSP00000377307:E182D;ENSP00000354583:E285D	ENSP00000354583:E285D	E	-	3	2	MFAP3L	171149479	0.994000	0.37717	0.993000	0.49108	0.651000	0.38670	0.878000	0.28126	0.699000	0.31761	0.650000	0.86243	GAG	MFAP3L	-	NULL	ENSG00000198948		0.582	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3L	HGNC	protein_coding	OTTHUMT00000363043.2		0.00	32	0	C	NM_021647		170912904	-1			no_errors	ENST00000361618	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G
MGA	23269	genome.wustl.edu	37	15	42058816	42058816	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:42058816G>A	ENST00000570161.1	+	23	8536	c.8536G>A	c.(8536-8538)Gaa>Aaa	p.E2846K	MGA_ENST00000389936.4_Missense_Mutation_p.E2807K|MGA_ENST00000545763.1_Missense_Mutation_p.E2637K|MGA_ENST00000219905.7_Missense_Mutation_p.E2846K|MGA_ENST00000566586.1_Missense_Mutation_p.E2637K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGCCTGGCTGAACTACCCAG	0.463																																																	0													130.0	125.0	127.0					15																	42058816		1942	4144	6086	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8536G>A	15.37:g.42058816G>A	ENSP00000457035:p.Glu2846Lys		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E2846K	ENST00000570161.1	37	c.8536	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901805	0.92035	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85773	-2.0;-1.99;-2.03	5.49	5.49	0.81192	.	0.139045	0.32444	N	0.006081	D	0.87799	0.6268	N	0.24115	0.695	0.34721	D	0.72871	D;D	0.76494	0.997;0.999	D;P	0.68353	0.957;0.907	D	0.90997	0.4839	10	0.87932	D	0	.	19.5721	0.95425	0.0:0.0:1.0:0.0	.	2637;2846	F5H7K2;E7ENI0	.;.	K	2846;2807;2637	ENSP00000219905:E2846K;ENSP00000374586:E2807K;ENSP00000442467:E2637K	ENSP00000219905:E2846K	E	+	1	0	MGA	39846108	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.839000	0.62810	2.857000	0.98124	0.650000	0.86243	GAA	MGA	-	NULL	ENSG00000174197		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0.00	51	0	G	NM_001164273.1		42058816	+1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	A
SPACA6P-AS	102238594	genome.wustl.edu	37	19	52195962	52195962	+	lincRNA	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:52195962C>T	ENST00000602324.1	-	0	747				MIR125A_ENST00000385273.1_RNA|LINC00085_ENST00000573266.1_RNA|MIR99B_ENST00000384819.1_RNA|MIRLET7E_ENST00000362102.1_RNA	NR_029482.1|NR_029693.1																						GCTGGGGCCTCCCCGGCCCTC	0.697																																																	0													21.0	24.0	23.0					19																	52195962		1567	3580	5147			0																															19.37:g.52195962C>T				RNA	SNP	-	NULL	ENST00000602324.1	37	NULL		19																																																																																			hsa-mir-125a	-	-	ENSG00000269959		0.697	hsa-mir-125a.1-001	KNOWN	basic	lincRNA	MIR125A	miRBase	lincRNA	OTTHUMT00000467329.1	-	0.00	238	0	C			52195962	-1	tier1	-	no_errors	ENST00000602324	ensembl	human	known	74_37	rna	41.21	107	75	SNP	0.988	T
MLLT10	8028	genome.wustl.edu	37	10	21971160	21971160	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:21971160C>T	ENST00000307729.7	+	13	1851	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	MLLT10_ENST00000377072.3_Missense_Mutation_p.S558L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S558L|MLLT10_ENST00000446906.2_Missense_Mutation_p.S558L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	558	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S558*(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAAGCGTTCTCAGAGTTGCTG	0.328			T	"""MLL, PICALM, CDK6"""	AL																																			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	2	Substitution - Nonsense(2)	kidney(2)											165.0	148.0	153.0					10																	21971160		2203	4299	6502	SO:0001583	missense	0			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1673C>T	10.37:g.21971160C>T	ENSP00000307411:p.Ser558Leu		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S558L	ENST00000307729.7	37	c.1673	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771571	0.49680	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.16597	2.44;2.33;2.34;2.33	5.17	4.25	0.50352	.	1.399860	0.04085	N	0.310248	T	0.18173	0.0436	L	0.52573	1.65	0.35694	D	0.815084	B;B;B;B	0.32829	0.386;0.164;0.0;0.335	B;B;B;B	0.28011	0.085;0.027;0.0;0.039	T	0.22800	-1.0206	10	0.26408	T	0.33	.	9.2625	0.37621	0.0:0.843:0.0:0.157	.	253;558;558;558	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	L	558;558;558;558;201;200	ENSP00000366272:S558L;ENSP00000401406:S558L;ENSP00000307411:S558L;ENSP00000366258:S558L	ENSP00000307411:S558L	S	+	2	0	MLLT10	22011166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.345000	0.33953	2.583000	0.87209	0.655000	0.94253	TCA	MLLT10	-	NULL	ENSG00000078403		0.328	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	-	0.00	88	0	C			21971160	+1	tier1	-	no_errors	ENST00000307729	ensembl	human	known	74_37	missense	13.41	71	11	SNP	1.000	T
MMRN2	79812	genome.wustl.edu	37	10	88702246	88702246	+	Silent	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:88702246G>A	ENST00000372027.5	-	6	2616	c.2295C>T	c.(2293-2295)aaC>aaT	p.N765N	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	765					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CCAGGCTGACGTTGGCTTCCA	0.592																																																	0													94.0	92.0	93.0					10																	88702246		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2295C>T	10.37:g.88702246G>A			Q504V7|Q6P2N2	Silent	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.N765	ENST00000372027.5	37	c.2295	CCDS7379.1	10																																																																																			MMRN2	-	NULL	ENSG00000173269		0.592	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2	-	0.00	35	0	G	NM_024756		88702246	-1	tier1	-	no_errors	ENST00000372027	ensembl	human	known	74_37	silent	43.75	18	14	SNP	0.563	A
MORN1	79906	genome.wustl.edu	37	1	2290084	2290084	+	Silent	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:2290084G>T	ENST00000378531.3	-	9	989	c.816C>A	c.(814-816)gtC>gtA	p.V272V	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Silent_p.V272V	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	272										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TGAAAAAGTTGACCTCAGAGT	0.522																																																	0													175.0	158.0	164.0					1																	2290084		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.816C>A	1.37:g.2290084G>T			A6NKZ6|Q8WW30|Q9H852	Silent	SNP	pfam_MORN,smart_MORN	p.V272	ENST00000378531.3	37	c.816	CCDS40.1	1																																																																																			MORN1	-	NULL	ENSG00000116151		0.522	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORN1	HGNC	protein_coding	OTTHUMT00000004055.1	-	0.00	53	0	G	NM_024848		2290084	-1	tier1	-	no_errors	ENST00000378531	ensembl	human	known	74_37	silent	52.94	16	18	SNP	0.990	T
MRPL10	124995	genome.wustl.edu	37	17	45904115	45904115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:45904115G>T	ENST00000351111.2	-	4	425	c.420C>A	c.(418-420)taC>taA	p.Y140*	MRPL10_ENST00000290208.7_Nonsense_Mutation_p.Y150*|MRPL10_ENST00000414011.1_Nonsense_Mutation_p.Y150*	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	140					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGATTTTGGTACTTGGAAT	0.537																																																	0													64.0	58.0	60.0					17																	45904115		2203	4300	6503	SO:0001587	stop_gained	0			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.420C>A	17.37:g.45904115G>T	ENSP00000324100:p.Tyr140*		A6NGJ4|Q96B80|Q96Q55	Nonsense_Mutation	SNP	pfam_Ribosomal_L10/acidic_P0	p.Y140*	ENST00000351111.2	37	c.420	CCDS11516.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.880437	0.97904	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	.	.	.	5.62	3.62	0.41486	.	0.235145	0.45361	D	0.000363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3539	10.0992	0.42493	0.1618:0.0:0.8382:0.0	.	.	.	.	X	140;150;150	.	ENSP00000290208:Y150X	Y	-	3	2	MRPL10	43259114	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.918000	0.56432	1.388000	0.46506	-0.258000	0.10820	TAC	MRPL10	-	pfam_Ribosomal_L10/acidic_P0	ENSG00000159111		0.537	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL10	HGNC	protein_coding	OTTHUMT00000343764.1		0.00	76	0	G	NM_145255		45904115	-1			no_errors	ENST00000351111	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	0.995	T
MT-CO1	4512	genome.wustl.edu	37	M	3022	3022	+	5'Flank	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrM:3022G>A	ENST00000361624.2	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GATGGTGCAGCCGCTATTAAA	0.453																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3022G>A	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			MT-RNR2	-	-	ENSG00000210082		0.453	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	HGNC	protein_coding			0.00	121	0	G	YP_003024028		3022	+1			no_errors	ENST00000387347	ensembl	human	known	74_37	rna	6.17	76	5	SNP	NULL	A
MT-CO1	4512	genome.wustl.edu	37	M	6010	6010	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrM:6010T>C	ENST00000361624.2	+	1	107	c.107T>C	c.(106-108)cTt>cCt	p.L36P	MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	36					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCTAAGCCTCCTTATTCGAGC	0.483																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.107T>C	M.37:g.6010T>C	ENSP00000354499:p.Leu36Pro		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.L36P	ENST00000361624.2	37	c.107		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.483	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding			0.00	42	0	T	YP_003024028		6010	+1			no_errors	ENST00000361624	ensembl	human	known	74_37	missense	9.26	49	5	SNP	NULL	C
MTOR	2475	genome.wustl.edu	37	1	11181417	11181417	+	Silent	SNP	C	C	A	rs138151561	byFrequency	TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:11181417C>A	ENST00000361445.4	-	49	6895	c.6819G>T	c.(6817-6819)ccG>ccT	p.P2273P	MTOR_ENST00000376838.1_Silent_p.P478P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2273	Interaction with MLST8.|PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGTCATAGTCCGGAGCCATCT	0.522																																																	0													125.0	102.0	110.0					1																	11181417		2203	4300	6503	SO:0001819	synonymous_variant	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6819G>T	1.37:g.11181417C>A			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P2273	ENST00000361445.4	37	c.6819	CCDS127.1	1																																																																																			MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000198793		0.522	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1		0.00	93	0	C	NM_004958		11181417	-1			no_errors	ENST00000361445	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.939	A
MYBPC1	4604	genome.wustl.edu	37	12	102046465	102046465	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:102046465G>T	ENST00000550270.1	+	15	1461	c.1461G>T	c.(1459-1461)aaG>aaT	p.K487N	MYBPC1_ENST00000549145.1_Missense_Mutation_p.K500N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.K487N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.K487N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.K487N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.K512N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.K468N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.K461N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Missense_Mutation_p.K475N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.K487N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.K474N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.K512N|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.K473N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.K487N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.K388N|RP11-755O11.2_ENST00000552081.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	487	Ig-like C2-type 4.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGATCCACAAGTTAGTGATAG	0.383																																																	0													206.0	192.0	197.0					12																	102046465		2203	4300	6503	SO:0001583	missense	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1461G>T	12.37:g.102046465G>T	ENSP00000449702:p.Lys487Asn		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K512N	ENST00000550270.1	37	c.1536	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301103	0.60195	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.98	-0.0561	0.13806	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.232564	0.29775	N	0.011227	T	0.68595	0.3018	L	0.37850	1.14	0.34876	D	0.744051	B;B;P;B;B;B;B;B;P;B	0.48350	0.316;0.316;0.875;0.316;0.177;0.316;0.27;0.316;0.909;0.27	B;B;P;B;B;P;B;B;P;B	0.61328	0.395;0.428;0.827;0.428;0.199;0.497;0.208;0.375;0.887;0.363	T	0.74711	-0.3573	10	0.87932	D	0	.	11.2318	0.48916	0.5305:0.0:0.4695:0.0	.	468;475;487;487;474;461;487;487;512;512	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	N	461;487;487;487;474;473;512;500;487;512;487;468;475;512;388;487	ENSP00000448175:K461N;ENSP00000400908:K487N;ENSP00000388989:K487N;ENSP00000353822:K487N;ENSP00000376665:K474N;ENSP00000447362:K473N;ENSP00000354845:K512N;ENSP00000447660:K500N;ENSP00000447900:K487N;ENSP00000440034:K487N;ENSP00000446128:K468N;ENSP00000442847:K475N;ENSP00000354849:K512N;ENSP00000447116:K388N;ENSP00000449702:K487N	ENSP00000353822:K487N	K	+	3	2	MYBPC1	100570596	0.997000	0.39634	0.999000	0.59377	0.736000	0.42039	0.405000	0.21015	0.051000	0.15978	0.655000	0.94253	AAG	MYBPC1	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000196091		0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	-	0.00	83	0	G			102046465	+1	tier1	-	no_errors	ENST00000361466	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.903	T
MYLK	4638	genome.wustl.edu	37	3	123333149	123333149	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:123333149T>C	ENST00000475616.1	-	31	5547	c.5548A>G	c.(5548-5550)Agg>Ggg	p.R1850G	MYLK_ENST00000578202.1_Missense_Mutation_p.R89G|MYLK_ENST00000583087.1_Missense_Mutation_p.R90G|MYLK_ENST00000418370.2_Missense_Mutation_p.R90G|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000359169.1_Missense_Mutation_p.R1799G|MYLK_ENST00000346322.5_Missense_Mutation_p.R1781G|MYLK_ENST00000360304.3_Missense_Mutation_p.R1850G|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360772.3_Missense_Mutation_p.R1799G|MYLK_ENST00000354792.5_Missense_Mutation_p.R650G			Q15746	MYLK_HUMAN	myosin light chain kinase	1850	Ig-like C2-type 9.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGGGACTCCCTGATTGACTGG	0.473																																																	0													104.0	103.0	103.0					3																	123333149		2203	4300	6503	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5548A>G	3.37:g.123333149T>C	ENSP00000418335:p.Arg1850Gly		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R1850G	ENST00000475616.1	37	c.5548	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640826	0.47153	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000418370;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.27	1.38	0.22167	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67126	0.2860	L	0.31664	0.95	0.35488	D	0.798739	P;D;P;P;P;B	0.54601	0.837;0.967;0.837;0.935;0.866;0.05	P;P;P;P;P;B	0.59115	0.637;0.852;0.637;0.755;0.752;0.008	T	0.72786	-0.4188	9	0.72032	D	0.01	.	12.0458	0.53479	0.0:0.0:0.4248:0.5752	.	1849;1730;1799;1781;1850;162	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746;Q05D81	.;.;.;.;MYLK_HUMAN;.	G	1799;1850;1799;90;1781;650;1850	ENSP00000354004:R1799G;ENSP00000353452:R1850G;ENSP00000352088:R1799G;ENSP00000428967:R90G;ENSP00000320622:R1781G;ENSP00000346846:R650G;ENSP00000418335:R1850G	ENSP00000320622:R1781G	R	-	1	2	MYLK	124815839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.710000	0.37920	0.079000	0.16929	0.528000	0.53228	AGG	MYLK	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000065534		0.473	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1		0.00	62	0	T	NM_053025		123333149	-1			no_errors	ENST00000360304	ensembl	human	known	74_37	missense	8.65	95	9	SNP	1.000	C
NAALAD2	10003	genome.wustl.edu	37	11	89896165	89896165	+	Silent	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:89896165C>T	ENST00000534061.1	+	9	1268	c.1038C>T	c.(1036-1038)taC>taT	p.Y346Y	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.Y313Y|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	346	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAAGGATTTACAATGTAGTTG	0.264																																																	0													71.0	84.0	80.0					11																	89896165		2199	4278	6477	SO:0001819	synonymous_variant	0			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1038C>T	11.37:g.89896165C>T			B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.Y346	ENST00000534061.1	37	c.1038	CCDS8288.1	11																																																																																			NAALAD2	-	NULL	ENSG00000077616		0.264	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	-	0.00	225	0	C	NM_005467		89896165	+1	tier1	-	no_errors	ENST00000534061	ensembl	human	known	74_37	silent	42.06	73	53	SNP	1.000	T
NAGPA	51172	genome.wustl.edu	37	16	5080411	5080411	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr16:5080411C>T	ENST00000312251.3	-	4	785	c.766G>A	c.(766-768)Gca>Aca	p.A256T	NAGPA_ENST00000381955.3_Missense_Mutation_p.A256T|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'Flank	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	256					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	TGGCCGTCTGCATGAAAGAGC	0.592																																																	0													36.0	28.0	31.0					16																	5080411		2174	4245	6419	SO:0001583	missense	0			AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.766G>A	16.37:g.5080411C>T	ENSP00000310998:p.Ala256Thr		B2RAS1|Q96EJ8	Missense_Mutation	SNP	pfam_DUF2233,pfscan_EG-like_dom	p.A256T	ENST00000312251.3	37	c.766	CCDS10527.1	16	.	.	.	.	.	.	.	.	.	.	C	8.911	0.958663	0.18507	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.28895	1.59;1.81	5.09	5.09	0.68999	.	0.485772	0.22547	N	0.058641	T	0.22859	0.0552	N	0.16833	0.445	0.09310	N	1	B;P	0.35272	0.005;0.493	B;B	0.34242	0.01;0.178	T	0.13495	-1.0507	10	0.36615	T	0.2	-3.1508	18.4939	0.90856	0.0:1.0:0.0:0.0	.	256;256	Q9UK23;Q9UK23-2	NAGPA_HUMAN;.	T	256	ENSP00000310998:A256T;ENSP00000371381:A256T	ENSP00000310998:A256T	A	-	1	0	NAGPA	5020412	0.008000	0.16893	0.012000	0.15200	0.126000	0.20510	1.944000	0.40263	2.380000	0.81148	0.561000	0.74099	GCA	NAGPA	-	pfam_DUF2233	ENSG00000103174		0.592	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGPA	HGNC	protein_coding	OTTHUMT00000207003.1		0.00	36	0	C	NM_016256		5080411	-1			no_errors	ENST00000312251	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.034	T
NAV2	89797	genome.wustl.edu	37	11	20067055	20067055	+	Silent	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:20067055C>T	ENST00000396087.3	+	15	3909	c.3810C>T	c.(3808-3810)aaC>aaT	p.N1270N	NAV2_ENST00000349880.4_Silent_p.N1247N|NAV2_ENST00000396085.1_Silent_p.N1247N|NAV2_ENST00000360655.4_Silent_p.N1183N|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Silent_p.N1199N|NAV2_ENST00000533917.1_Silent_p.N333N|NAV2_ENST00000540292.1_Silent_p.N1201N|NAV2_ENST00000311043.8_Silent_p.N333N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1270					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.N1270K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTCTGGTCAACCAAACAGACA	0.547																																																	1	Substitution - Missense(1)	lung(1)											66.0	63.0	64.0					11																	20067055		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3810C>T	11.37:g.20067055C>T			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.N1270	ENST00000396087.3	37	c.3810	CCDS58126.1	11																																																																																			NAV2	-	NULL	ENSG00000166833		0.547	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1		0.00	47	0	C	NM_145117		20067055	+1			no_errors	ENST00000396087	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T
NCF1	653361	genome.wustl.edu	37	7	74193766	74193766	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:74193766C>A	ENST00000289473.4	+	4	463	c.393C>A	c.(391-393)aaC>aaA	p.N131K	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	131					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)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CCACGGACAACCAGTGAGTGA	0.587																																																	0													22.0	17.0	19.0					7																	74193766		2134	4145	6279	SO:0001583	missense	0			M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.393C>A	7.37:g.74193766C>A	ENSP00000289473:p.Asn131Lys		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_P47PHOX	p.N131K	ENST00000289473.4	37	c.393	CCDS34657.1	7	.	.	.	.	.	.	.	.	.	.	c	8.270	0.813091	0.16537	.	.	ENSG00000158517	ENST00000289473;ENST00000433458;ENST00000471594;ENST00000442021	T;T;T	0.69435	-0.4;-0.4;-0.4	3.48	2.48	0.30137	Phox homologous domain (2);	0.565973	0.20584	N	0.089470	T	0.55305	0.1912	L	0.48642	1.525	0.36005	D	0.837663	B;B	0.26744	0.158;0.129	B;B	0.23419	0.046;0.012	T	0.60495	-0.7252	10	0.29301	T	0.29	-9.4425	10.7312	0.46098	0.1909:0.8091:0.0:0.0	.	131;131	P14598-2;P14598	.;NCF1_HUMAN	K	131;131;105;138	ENSP00000289473:N131K;ENSP00000392870:N131K;ENSP00000401935:N138K	ENSP00000289473:N131K	N	+	3	2	NCF1	73831702	1.000000	0.71417	0.777000	0.31699	0.217000	0.24651	3.256000	0.51492	1.690000	0.51089	0.442000	0.29010	AAC	NCF1	-	superfamily_Phox	ENSG00000158517		0.587	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF1	HGNC	protein_coding	OTTHUMT00000314560.1	-	0.00	89	0	C	NM_000265		74193766	+1	tier1	-	no_errors	ENST00000289473	ensembl	human	known	74_37	missense	30.23	90	39	SNP	0.988	A
NFATC4	4776	genome.wustl.edu	37	14	24845836	24845836	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:24845836C>T	ENST00000250373.4	+	9	2534	c.2393C>T	c.(2392-2394)tCt>tTt	p.S798F	NFATC4_ENST00000555453.1_Missense_Mutation_p.S786F|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000557451.1_Missense_Mutation_p.S728F|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000556279.1_Missense_Mutation_p.S830F|NFATC4_ENST00000422617.3_Missense_Mutation_p.S786F|NFATC4_ENST00000555393.1_Missense_Mutation_p.S86F|NFATC4_ENST00000413692.2_Missense_Mutation_p.S861F|NFATC4_ENST00000553708.1_Missense_Mutation_p.S798F|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.S86F|NFATC4_ENST00000553879.1_Missense_Mutation_p.S728F|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.S333F|NFATC4_ENST00000555167.1_Missense_Mutation_p.S333F|NFATC4_ENST00000554344.1_Missense_Mutation_p.S728F|NFATC4_ENST00000424781.2_Missense_Mutation_p.S811F|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000555590.1_Missense_Mutation_p.S811F|NFATC4_ENST00000539237.2_Missense_Mutation_p.S830F	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	798	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|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 involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGGGCTCCTCTTTCTCCCTG	0.632																																																	0													48.0	56.0	54.0					14																	24845836		2203	4300	6503	SO:0001583	missense	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2393C>T	14.37:g.24845836C>T	ENSP00000250373:p.Ser798Phe		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.S861F	ENST00000250373.4	37	c.2582	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751345	0.49257	.	.	ENSG00000100968	ENST00000413692;ENST00000555590;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000556759;ENST00000555167;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50813	3.12;3.11;3.14;3.13;3.1;3.11;3.14;2.8;2.8;2.83;2.82;2.78;1.42;1.4;0.73;0.83	5.53	5.53	0.82687	.	0.110360	0.41605	D	0.000848	T	0.26159	0.0638	N	0.08118	0	0.29805	N	0.832136	B;B;B;B;P;P;B;B;B	0.36315	0.06;0.25;0.32;0.32;0.547;0.547;0.115;0.25;0.119	B;B;B;B;B;B;B;B;B	0.32533	0.093;0.132;0.147;0.147;0.132;0.132;0.093;0.132;0.07	T	0.24657	-1.0154	10	0.54805	T	0.06	-1.757	10.3996	0.44222	0.0:0.9112:0.0:0.0888	.	786;830;811;811;861;861;786;830;798	Q14934-9;Q14934-4;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934	.;.;.;.;.;.;.;.;NFAC4_HUMAN	F	861;811;811;830;830;798;798;728;728;728;786;786;333;333;86;86	ENSP00000388910:S861F;ENSP00000451224:S811F;ENSP00000388668:S811F;ENSP00000439350:S830F;ENSP00000452270:S830F;ENSP00000250373:S798F;ENSP00000450590:S798F;ENSP00000452349:S728F;ENSP00000450469:S728F;ENSP00000451284:S728F;ENSP00000396788:S786F;ENSP00000450686:S786F;ENSP00000451183:S333F;ENSP00000451395:S333F;ENSP00000451801:S86F;ENSP00000451590:S86F	ENSP00000250373:S798F	S	+	2	0	NFATC4	23915676	0.969000	0.33509	1.000000	0.80357	0.955000	0.61496	1.923000	0.40055	2.605000	0.88082	0.561000	0.74099	TCT	NFATC4	-	NULL	ENSG00000100968		0.632	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	-	0.00	79	0	C	NM_004554		24845836	+1	tier1	-	no_errors	ENST00000413692	ensembl	human	known	74_37	missense	13.41	71	11	SNP	1.000	T
NOL10	79954	genome.wustl.edu	37	2	10729208	10729208	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:10729208C>G	ENST00000381685.5	-	19	1910	c.1805G>C	c.(1804-1806)aGa>aCa	p.R602T	AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Missense_Mutation_p.R552T|NOL10_ENST00000345985.3_Missense_Mutation_p.R552T|NOL10_ENST00000538384.1_Missense_Mutation_p.R576T	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	602						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTGAAGCTTCTAAATTCTTC	0.478																																																	0													140.0	150.0	147.0					2																	10729208		2203	4300	6503	SO:0001583	missense	0			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1805G>C	2.37:g.10729208C>G	ENSP00000371101:p.Arg602Thr		A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R602T	ENST00000381685.5	37	c.1805	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012481	0.54468	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.42131	0.98;2.23;1.58;2.23	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	L	0.53249	1.67	0.80722	D	1	B;B;P	0.50819	0.205;0.205;0.939	B;B;P	0.48677	0.035;0.035;0.586	T	0.28618	-1.0038	10	0.11794	T	0.64	-15.9359	19.4318	0.94772	0.0:1.0:0.0:0.0	.	576;602;552	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	T	552;602;552;576	ENSP00000263837:R552T;ENSP00000371101:R602T;ENSP00000437625:R552T;ENSP00000439663:R576T	ENSP00000263837:R552T	R	-	2	0	NOL10	10646659	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.252000	0.78309	2.668000	0.90789	0.591000	0.81541	AGA	NOL10	-	NULL	ENSG00000115761		0.478	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1		0.00	31	0	C	NM_024894		10729208	-1			no_errors	ENST00000381685	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	G
NOP10	55505	genome.wustl.edu	37	15	34634302	34634303	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:34634302_34634303TC>AA	ENST00000328848.4	-	2	164_165	c.61_62GA>TT	c.(61-63)GAc>TTc	p.D21F	NUTM1_ENST00000438749.3_5'Flank|NUTM1_ENST00000537011.1_5'Flank|NOP10_ENST00000557912.1_Intron	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN	NOP10 ribonucleoprotein	21					pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA RNP complex (GO:0072588)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	snoRNA binding (GO:0030515)			lung(1)|ovary(1)	2						TCCCATCGGGTCAAATTTCTGC	0.495																																																	0																																										SO:0001583	missense	0			AB043103	CCDS10037.1	15q14-q15	2014-09-17	2012-12-10	2008-10-13	ENSG00000182117	ENSG00000182117			14378	protein-coding gene	gene with protein product	"""homolog of yeast Nop10p"""	606471	"""nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)"", ""NOP10 ribonucleoprotein homolog (yeast)"""	NOLA3		11074001, 9843512	Standard	NM_018648		Approved	NOP10P, MGC70651	uc001zie.1	Q9NPE3	OTTHUMG00000129440	ENST00000328848.4:c.61_62delinsAA	15.37:g.34634302_34634303delinsAA	ENSP00000332198:p.Asp21Phe			Missense_Mutation	SNP	pfam_H/ACA_rnp_Nop10,superfamily_H/ACA_rnp_Nop10	p.D21V|p.D21Y	ENST00000328848.4	37	c.62|c.61	CCDS10037.1	15																																																																																			NOP10	-	pfam_H/ACA_rnp_Nop10,superfamily_H/ACA_rnp_Nop10	ENSG00000182117		0.495	NOP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP10	HGNC	protein_coding	OTTHUMT00000251602.2	-	0.00	151|148	0	T|C	NM_018648		34634302|34634303	-1	tier1	-	no_errors	ENST00000328848	ensembl	human	known	74_37	missense	12.75|12.87	88	13	SNP	0.726|0.364	A
NOS1	4842	genome.wustl.edu	37	12	117718598	117718598	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:117718598G>A	ENST00000338101.4	-	7	1460	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R486C			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCAGCGTAGCGGATGAGCTGG	0.632																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													59.0	70.0	66.0					12																	117718598		2103	4250	6353	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1456C>T	12.37:g.117718598G>A	ENSP00000337459:p.Arg486Cys			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R486C	ENST00000338101.4	37	c.1456	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566130	0.86439	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.51325	0.71;0.71	5.14	4.21	0.49690	Nitric oxide synthase, oxygenase domain (3);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84247	0.0475	10	0.87932	D	0	-22.6727	15.1631	0.72801	0.0:0.0:0.8587:0.1413	.	486	P29475	NOS1_HUMAN	C	486	ENSP00000320758:R486C;ENSP00000337459:R486C	ENSP00000320758:R486C	R	-	1	0	NOS1	116202981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.253000	0.65452	2.653000	0.90120	0.563000	0.77884	CGC	NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000089250		0.632	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0.00	137	0	G			117718598	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	11.50	100	13	SNP	1.000	A
NSMCE1	197370	genome.wustl.edu	37	16	27268881	27268881	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr16:27268881C>T	ENST00000361439.4	-	2	110	c.11G>A	c.(10-12)aGc>aAc	p.S4N		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	4	Interaction with NDNL2.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						TCTCCTTGTGCTGCCCTGCAT	0.512																																																	0													78.0	81.0	80.0					16																	27268881		2094	4219	6313	SO:0001583	missense	0			AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.11G>A	16.37:g.27268881C>T	ENSP00000355077:p.Ser4Asn		D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING	p.S4N	ENST00000361439.4	37	c.11	CCDS10628.2	16	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956887	0.18507	.	.	ENSG00000169189	ENST00000361439	D	0.82984	-1.67	4.46	2.44	0.29823	.	0.352035	0.20104	U	0.099172	T	0.66317	0.2777	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46871	-0.9160	10	0.14656	T	0.56	.	6.0702	0.19885	0.0:0.7042:0.1914:0.1044	.	4	Q8WV22	NSE1_HUMAN	N	4	ENSP00000355077:S4N	ENSP00000355077:S4N	S	-	2	0	NSMCE1	27176382	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.000000	0.12993	0.575000	0.29434	0.563000	0.77884	AGC	NSMCE1	-	NULL	ENSG00000169189		0.512	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE1	HGNC	protein_coding	OTTHUMT00000254577.3	-	0.00	49	0	C	NM_145080		27268881	-1	tier1	-	no_errors	ENST00000361439	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.001	T
OCA2	4948	genome.wustl.edu	37	15	28171314	28171314	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:28171314C>T	ENST00000354638.3	-	19	2193	c.2038G>A	c.(2038-2040)Gca>Aca	p.A680T	OCA2_ENST00000353809.5_Missense_Mutation_p.A656T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	680					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAAGGGTTGCCCATTCCACT	0.358									Oculocutaneous Albinism																																								0													111.0	116.0	114.0					15																	28171314		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2038G>A	15.37:g.28171314C>T	ENSP00000346659:p.Ala680Thr		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.A680T	ENST00000354638.3	37	c.2038	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041791	0.75732	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	T;T	0.81330	-1.48;-1.48	5.75	5.75	0.90469	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	N	0.10809	0.05	0.80722	D	1	B;B	0.32968	0.34;0.392	B;B	0.37989	0.171;0.262	T	0.68603	-0.5365	10	0.31617	T	0.26	-15.7923	17.446	0.87579	0.0:1.0:0.0:0.0	.	656;680	Q04671-2;Q04671	.;P_HUMAN	T	680;656	ENSP00000346659:A680T;ENSP00000261276:A656T	ENSP00000261276:A656T	A	-	1	0	OCA2	25844909	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.941000	0.75922	2.725000	0.93324	0.655000	0.94253	GCA	OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.358	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1		0.00	59	0	C	NM_000275		28171314	-1			no_errors	ENST00000354638	ensembl	human	known	74_37	missense	7.14	51	4	SNP	1.000	T
OPA1	4976	genome.wustl.edu	37	3	193336595	193336595	+	Intron	SNP	G	G	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:193336595G>C	ENST00000392438.3	+	5	790				OPA1_ENST00000361715.2_Intron|OPA1_ENST00000361908.3_Intron|OPA1_ENST00000361150.2_Intron|OPA1-AS1_ENST00000433105.1_RNA|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000361510.2_Intron|OPA1_ENST00000361828.2_Intron|OPA1_ENST00000487986.1_Intron	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GATGTAATTTGAAATTCAGCT	0.363																																																	0													77.0	71.0	73.0					3																	193336595		692	1591	2283	SO:0001627	intron_variant	0			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.557-63G>C	3.37:g.193336595G>C			D3DNW4	RNA	SNP	-	NULL	ENST00000392438.3	37	NULL	CCDS43186.1	3																																																																																			OPA1-AS1	-	-	ENSG00000224855		0.363	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1-AS1	HGNC	protein_coding	OTTHUMT00000313812.2	-	0.00	55	0	G	NM_130837		193336595	-1	tier1	-	no_errors	ENST00000433105	ensembl	human	known	74_37	rna	5.56	84	5	SNP	0.464	C
OR2L8	391190	genome.wustl.edu	37	1	248112321	248112321	+	Silent	SNP	C	C	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:248112321C>A	ENST00000357191.3	+	1	162	c.162C>A	c.(160-162)ctC>ctA	p.L54L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			ACACCCATCTCCACACACCCA	0.408																																																	0													363.0	322.0	336.0					1																	248112321		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.162C>A	1.37:g.248112321C>A			Q6IF03	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L54	ENST00000357191.3	37	c.162	CCDS31101.1	1																																																																																			OR2L8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196936		0.408	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	-	0.00	160	0	C			248112321	+1	tier1	-	no_errors	ENST00000357191	ensembl	human	known	74_37	silent	10.00	153	17	SNP	0.656	A
OR2Z1	284383	genome.wustl.edu	37	19	8841798	8841798	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:8841798G>T	ENST00000324060.2	+	1	483	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTACTTATGAGACGCCAGG	0.552																																																	0													151.0	120.0	130.0					19																	8841798		2203	4300	6503	SO:0001583	missense	0			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.408G>T	19.37:g.8841798G>T	ENSP00000316284:p.Met136Ile		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M136I	ENST00000324060.2	37	c.408	CCDS32895.1	19	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859854	0.51482	.	.	ENSG00000181733	ENST00000324060	T	0.00551	6.65	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.02119	0.0066	M	0.87381	2.88	0.32558	N	0.531426	D	0.61080	0.989	P	0.58721	0.844	T	0.09796	-1.0658	10	0.59425	D	0.04	.	14.8864	0.70572	0.0:0.0:1.0:0.0	.	136	Q8NG97	OR2Z1_HUMAN	I	136	ENSP00000316284:M136I	ENSP00000316284:M136I	M	+	3	0	OR2Z1	8702798	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	4.462000	0.60121	2.182000	0.69389	0.543000	0.68304	ATG	OR2Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181733		0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	HGNC	protein_coding	OTTHUMT00000459954.1		0.00	33	0	G			8841798	+1			no_errors	ENST00000324060	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
OR5L2	26338	genome.wustl.edu	37	11	55595538	55595538	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:55595538A>T	ENST00000378397.1	+	1	844	c.844A>T	c.(844-846)Att>Ttt	p.I282F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACAGTTGTGATTCCCATGCT	0.463										HNSCC(27;0.073)																																							0													68.0	65.0	66.0					11																	55595538		2200	4296	6496	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.844A>T	11.37:g.55595538A>T	ENSP00000367650:p.Ile282Phe		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I282F	ENST00000378397.1	37	c.844	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	16.64	3.180605	0.57800	.	.	ENSG00000205030	ENST00000378397	T	0.37411	1.2	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.62368	0.2422	M	0.87682	2.9	0.30362	N	0.783741	D	0.89917	1.0	D	0.97110	1.0	T	0.68112	-0.5495	10	0.72032	D	0.01	-50.3468	10.078	0.42373	0.8496:0.0:0.0:0.1504	.	282	Q8NGL0	OR5L2_HUMAN	F	282	ENSP00000367650:I282F	ENSP00000367650:I282F	I	+	1	0	OR5L2	55352114	0.000000	0.05858	0.999000	0.59377	0.725000	0.41563	0.327000	0.19663	2.061000	0.61500	0.439000	0.28862	ATT	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205030		0.463	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1		0.00	51	0	A	NM_001004739		55595538	+1			no_errors	ENST00000378397	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.651	T
ORM2	5005	genome.wustl.edu	37	9	117092701	117092701	+	Intron	SNP	C	C	A	rs117654479		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:117092701C>A	ENST00000431067.2	+	2	150				ORM2_ENST00000412657.1_Missense_Mutation_p.P173T	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2						acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	ACCAGCTCCCCCCTTCTCCCC	0.517																																					NSCLC(65;867 1308 1814 2391 12508)												0													34.0	62.0	53.0					9																	117092701		1889	4241	6130	SO:0001627	intron_variant	0				CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.115-13C>A	9.37:g.117092701C>A			B2R5L2|Q16571|Q5T538|Q6IB74	Missense_Mutation	SNP	NULL	p.P173T	ENST00000431067.2	37	c.517	CCDS6804.1	9	493	0.22573260073260074	219	0.4451219512195122	59	0.16298342541436464	116	0.20279720279720279	99	0.13060686015831136	-	1.549	-0.539706	0.04053	.	.	ENSG00000228278	ENST00000412657	T	0.39787	1.06	2.74	-5.48	0.02592	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.33445	-0.9868	5	0.02654	T	1	.	0.6687	0.00855	0.205:0.2469:0.1554:0.3927	.	.	.	.	T	173	ENSP00000407099:P173T	ENSP00000407099:P173T	P	+	1	0	ORM2	116132522	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.635000	0.05471	-2.017000	0.00944	-3.378000	0.00040	CCC	ORM2	-	NULL	ENSG00000228278		0.517	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORM2	HGNC	protein_coding	OTTHUMT00000055432.1	-	0.00	64	0	C	NM_000608		117092701	+1	tier1	rs117654479	no_errors	ENST00000412657	ensembl	human	known	74_37	missense	40.00	6	4	SNP	0.000	A
OTOGL	283310	genome.wustl.edu	37	12	80730335	80730335	+	Splice_Site	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:80730335G>T	ENST00000547103.1	+	39	4686	c.4680G>T	c.(4678-4680)caG>caT	p.Q1560H	OTOGL_ENST00000458043.2_Splice_Site_p.Q1572H			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1560	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCATGAATCAGGTGGGTCATA	0.358																																																	0													67.0	65.0	65.0					12																	80730335		1833	4084	5917	SO:0001630	splice_region_variant	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4680+1G>T	12.37:g.80730335G>T			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.Q1572H	ENST00000547103.1	37	c.4716		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.97|17.97	3.519136|3.519136	0.64634|0.64634	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043|ENST00000298820	T;T|.	0.61392|.	0.11;0.11|.	5.49|5.49	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|T	0.64832|0.64832	0.2634|0.2634	L|L	0.57536|0.57536	1.79|1.79	0.36973|0.36973	D|D	0.893917|0.893917	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67562|0.67562	-0.5639|-0.5639	7|5	0.42905|.	T|.	0.14|.	.|.	14.054|14.054	0.64756|0.64756	0.0:0.0:0.7422:0.2578|0.0:0.0:0.7422:0.2578	.|.	.|.	.|.	.|.	H|I	1560;1572|15	ENSP00000447211:Q1560H;ENSP00000400895:Q1572H|.	ENSP00000400895:Q1572H|.	Q|R	+|+	3|2	2|0	OTOGL|OTOGL	79254466|79254466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	5.563000|5.563000	0.67352|0.67352	2.732000|2.732000	0.93576|0.93576	0.650000|0.650000	0.86243|0.86243	CAG|AGA	OTOGL	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000165899		0.358	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	-	0.00	54	0	G	NM_173591	Missense_Mutation	80730335	+1	tier1	-	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	55582697	55582697	+	Silent	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:55582697G>A	ENST00000320301.6	-	33	5183	c.4789C>T	c.(4789-4791)Ctg>Ttg	p.L1597L	PCDH15_ENST00000395430.1_Silent_p.L1594L|PCDH15_ENST00000437009.1_Silent_p.L1528L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Silent_p.L1557L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000361849.3_Silent_p.L1599L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Silent_p.L1574L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1597					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACTGCTGCAGATCTATGATC	0.468										HNSCC(58;0.16)																																							0													138.0	132.0	134.0					10																	55582697		2203	4299	6502	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4789C>T	10.37:g.55582697G>A			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1597	ENST00000320301.6	37	c.4789	CCDS7248.1	10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.468	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	53	0	G	NM_033056		55582697	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	silent	10.00	54	6	SNP	0.950	A
PCDHA6	56142	genome.wustl.edu	37	5	140223323	140223323	+	Intron	SNP	C	C	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:140223323C>A	ENST00000529310.1	+	1	2508				PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.T806N|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTTAGAACTCATAAATTC	0.323																																																	0													33.0	36.0	35.0					5																	140223323		2190	4259	6449	SO:0001627	intron_variant	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2394+13253C>A	5.37:g.140223323C>A			O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T806N	ENST00000529310.1	37	c.2417	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	C	7.795	0.712383	0.15306	.	.	ENSG00000204962	ENST00000378123	T	0.50548	0.74	3.11	-6.23	0.02052	.	.	.	.	.	T	0.17746	0.0426	N	0.08118	0	0.09310	N	1	B	0.23128	0.08	B	0.21917	0.037	T	0.18745	-1.0327	8	.	.	.	.	1.0337	0.01543	0.4432:0.1057:0.2114:0.2397	.	806	Q9Y5H6-2	.	N	806	ENSP00000367363:T806N	.	T	+	2	0	PCDHA8	140203507	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.425000	0.07017	-1.081000	0.03105	-0.384000	0.06662	ACT	PCDHA8	-	NULL	ENSG00000204962		0.323	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372829.3	-	0.00	103	0	C	NM_018909		140223323	+1	tier1	-	no_errors	ENST00000378123	ensembl	human	known	74_37	missense	41.10	43	30	SNP	0.000	A
PDHA2	5161	genome.wustl.edu	37	4	96762268	96762268	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:96762268G>T	ENST00000295266.4	+	1	1030	c.967G>T	c.(967-969)Gta>Tta	p.V323L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	323					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AGATAGAATGGTAAACAGCAA	0.423																																																	0													84.0	82.0	82.0					4																	96762268		2203	4300	6503	SO:0001583	missense	0				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.967G>T	4.37:g.96762268G>T	ENSP00000295266:p.Val323Leu		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.V323L	ENST00000295266.4	37	c.967	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.119935	0.00346	.	.	ENSG00000163114	ENST00000295266	D	0.95918	-3.85	4.73	0.248	0.15526	Dehydrogenase, E1 component (1);	0.319538	0.30201	N	0.010161	T	0.77082	0.4078	N	0.01277	-0.915	0.21499	N	0.999663	B	0.02656	0.0	B	0.06405	0.002	T	0.70757	-0.4785	10	0.02654	T	1	-24.5487	0.4706	0.00531	0.2296:0.1495:0.3155:0.3054	.	323	P29803	ODPAT_HUMAN	L	323	ENSP00000295266:V323L	ENSP00000295266:V323L	V	+	1	0	PDHA2	96981291	1.000000	0.71417	0.012000	0.15200	0.365000	0.29674	0.891000	0.28309	-0.088000	0.12506	-0.373000	0.07131	GTA	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	ENSG00000163114		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	-	0.00	76	0	G			96762268	+1	tier1	-	no_errors	ENST00000295266	ensembl	human	known	74_37	missense	24.14	44	14	SNP	0.314	T
PDLIM7	9260	genome.wustl.edu	37	5	176919672	176919672	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:176919672G>T	ENST00000355841.2	-	3	169	c.103C>A	c.(103-105)Cct>Act	p.P35T	PDLIM7_ENST00000359895.2_Missense_Mutation_p.P35T|PDLIM7_ENST00000393551.1_Missense_Mutation_p.P35T|RP11-1334A24.6_ENST00000506025.1_RNA|PDLIM7_ENST00000356618.4_Missense_Mutation_p.P35T|PDLIM7_ENST00000355572.2_Missense_Mutation_p.P35T	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	35	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCCCCCAGGAGTGAGCTGT	0.627																																																	0													48.0	52.0	51.0					5																	176919672		2203	4300	6503	SO:0001583	missense	0			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.103C>A	5.37:g.176919672G>T	ENSP00000348099:p.Pro35Thr		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.P35T	ENST00000355841.2	37	c.103	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724391	0.89298	.	.	ENSG00000196923	ENST00000359895;ENST00000356618;ENST00000355841;ENST00000393551;ENST00000505074;ENST00000355572;ENST00000393546;ENST00000506161;ENST00000506537	T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.46	4.46	0.54185	PDZ/DHR/GLGF (4);	0.090805	0.41001	D	0.000976	T	0.67730	0.2924	M	0.81682	2.555	0.80722	D	1	B;D;P;P	0.53885	0.017;0.963;0.877;0.947	B;P;P;P	0.59825	0.089;0.864;0.72;0.634	T	0.74705	-0.3575	10	0.72032	D	0.01	.	17.09	0.86619	0.0:0.0:1.0:0.0	.	35;35;35;35	Q9NR12-6;Q9NR12-4;Q9NR12;Q9NR12-2	.;.;PDLI7_HUMAN;.	T	35	ENSP00000352964:P35T;ENSP00000349030:P35T;ENSP00000348099:P35T;ENSP00000377182:P35T;ENSP00000426213:P35T;ENSP00000347776:P35T;ENSP00000377177:P35T;ENSP00000424850:P35T;ENSP00000421664:P35T	ENSP00000347776:P35T	P	-	1	0	PDLIM7	176852278	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	9.699000	0.98703	2.022000	0.59522	0.491000	0.48974	CCT	PDLIM7	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000196923		0.627	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	-	0.00	27	0	G	NM_005451		176919672	-1	tier1	-	no_errors	ENST00000355841	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.998	T
PGLYRP1	8993	genome.wustl.edu	37	19	46522790	46522790	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:46522790A>G	ENST00000008938.4	-	2	446	c.403T>C	c.(403-405)Tac>Cac	p.Y135H	MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	135					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TCACCCATGTAGTTGCCCATG	0.602																																																	0													80.0	69.0	73.0					19																	46522790		2203	4300	6503	SO:0001583	missense	0			AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.403T>C	19.37:g.46522790A>G	ENSP00000008938:p.Tyr135His		Q4VB36	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition	p.Y135H	ENST00000008938.4	37	c.403	CCDS12680.1	19	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898140	0.72639	.	.	ENSG00000008438	ENST00000008938	T	0.13538	2.58	5.01	5.01	0.66863	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.710749	0.12294	N	0.481815	T	0.41213	0.1149	M	0.84948	2.725	0.28653	N	0.906552	D	0.89917	1.0	D	0.72982	0.979	T	0.34976	-0.9807	10	0.87932	D	0	-31.6898	11.1559	0.48486	1.0:0.0:0.0:0.0	.	135	O75594	PGRP1_HUMAN	H	135	ENSP00000008938:Y135H	ENSP00000008938:Y135H	Y	-	1	0	PGLYRP1	51214630	0.992000	0.36948	0.998000	0.56505	0.984000	0.73092	3.407000	0.52644	1.891000	0.54761	0.529000	0.55759	TAC	PGLYRP1	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition	ENSG00000008438		0.602	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP1	HGNC	protein_coding	OTTHUMT00000461695.1	-	0.00	102	0	A	NM_005091		46522790	-1	tier1	-	no_errors	ENST00000008938	ensembl	human	known	74_37	missense	36.36	49	28	SNP	0.993	G
PHF8	23133	genome.wustl.edu	37	X	54040940	54040940	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:54040940T>C	ENST00000357988.5	-	7	1119	c.761A>G	c.(760-762)aAc>aGc	p.N254S	PHF8_ENST00000338154.6_Missense_Mutation_p.N218S|PHF8_ENST00000322659.8_Missense_Mutation_p.N218S|PHF8_ENST00000338946.6_Missense_Mutation_p.N218S	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	254	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGGCCACAAGTTTTCGACCCA	0.463																																																	0													143.0	92.0	109.0					X																	54040940		2203	4300	6503	SO:0001583	missense	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.761A>G	X.37:g.54040940T>C	ENSP00000350676:p.Asn254Ser		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.N254S	ENST00000357988.5	37	c.761	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.19|19.19	3.780467|3.780467	0.70222|0.70222	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000396282	T;T;T;T|.	0.70045|.	-0.45;-0.45;-0.45;-0.45|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63486|0.63486	0.2515|0.2515	L|L	0.56124|0.56124	1.755|1.755	0.51233|0.51233	D|D	0.999917|0.999917	P;P;B|.	0.48911|.	0.865;0.917;0.052|.	B;P;B|.	0.48334|.	0.284;0.574;0.019|.	T|T	0.62181|0.62181	-0.6908|-0.6908	10|5	0.37606|.	T|.	0.19|.	-23.0543|-23.0543	13.154|13.154	0.59505|0.59505	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	218;254;254|.	B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;PHF8_HUMAN|.	S|A	254;218;218;248;218|122	ENSP00000350676:N254S;ENSP00000338868:N218S;ENSP00000340051:N218S;ENSP00000319473:N218S|.	ENSP00000319473:N218S|.	N|T	-|-	2|1	0|0	PHF8|PHF8	54057665|54057665	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.984000|0.984000	0.73092|0.73092	8.009000|8.009000	0.88606|0.88606	1.747000|1.747000	0.51819|0.51819	0.402000|0.402000	0.26972|0.26972	AAC|ACT	PHF8	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000172943		0.463	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	-	0.00	48	0	T	NM_015107		54040940	-1	tier1	-	no_errors	ENST00000357988	ensembl	human	known	74_37	missense	15.52	49	9	SNP	1.000	C
PIEZO2	63895	genome.wustl.edu	37	18	10760966	10760966	+	Silent	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr18:10760966T>C	ENST00000503781.3	-	22	3317	c.3318A>G	c.(3316-3318)ggA>ggG	p.G1106G	PIEZO2_ENST00000383408.2_Silent_p.G394G|PIEZO2_ENST00000302079.6_Silent_p.G1106G|PIEZO2_ENST00000580640.1_Silent_p.G1131G	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1106					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AATTAATAAGTCCATCATCTA	0.363																																																	0													71.0	60.0	63.0					18																	10760966		692	1591	2283	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.3318A>G	18.37:g.10760966T>C			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.G1120	ENST00000503781.3	37	c.3360		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.363	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0.00	139	0	T	NM_022068		10760966	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	silent	10.28	96	11	SNP	0.980	C
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	106	0	G			178936091	+1	tier1	rs104886003	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	17.31	172	36	SNP	1.000	A
PKHD1L1	93035	genome.wustl.edu	37	8	110534995	110534995	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:110534995G>T	ENST00000378402.5	+	75	12310	c.12206G>T	c.(12205-12207)aGg>aTg	p.R4069M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4069					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R4073T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAGTTGAAAGGTCTGCATTT	0.512										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	ovary(1)											54.0	57.0	56.0					8																	110534995		2178	4278	6456	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12206G>T	8.37:g.110534995G>T	ENSP00000367655:p.Arg4069Met		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.R4069M	ENST00000378402.5	37	c.12206	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778876	0.49891	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.86432	-2.12;-1.94	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	M	0.76574	2.34	0.33434	D	0.581496	D	0.89917	1.0	D	0.64144	0.922	D	0.94171	0.7423	10	0.48119	T	0.1	.	17.913	0.88940	0.0:0.0:1.0:0.0	.	4069	Q86WI1	PKHL1_HUMAN	M	4069;997	ENSP00000367655:R4069M;ENSP00000437376:R997M	ENSP00000367655:R4069M	R	+	2	0	PKHD1L1	110604171	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	4.467000	0.60155	2.831000	0.97527	0.650000	0.86243	AGG	PKHD1L1	-	NULL	ENSG00000205038		0.512	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0.00	37	0	G	NM_177531		110534995	+1			no_errors	ENST00000378402	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
PLXNA2	5362	genome.wustl.edu	37	1	208315706	208315706	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:208315706G>T	ENST00000367033.3	-	4	2231	c.1474C>A	c.(1474-1476)Cag>Aag	p.Q492K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	492	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGTAGCGCTGATCAATGGAG	0.542																																																	0													98.0	85.0	90.0					1																	208315706		2203	4300	6503	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1474C>A	1.37:g.208315706G>T	ENSP00000356000:p.Gln492Lys		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.Q492K	ENST00000367033.3	37	c.1474	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228220	0.22542	.	.	ENSG00000076356	ENST00000367033	T	0.04119	3.7	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.333388	0.32175	N	0.006476	T	0.03136	0.0092	N	0.11064	0.09	0.32639	N	0.520904	B	0.11235	0.004	B	0.04013	0.001	T	0.28038	-1.0056	10	0.20519	T	0.43	.	12.7569	0.57341	0.0:0.0:0.8358:0.1642	.	492	O75051	PLXA2_HUMAN	K	492	ENSP00000356000:Q492K	ENSP00000356000:Q492K	Q	-	1	0	PLXNA2	206382329	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	3.794000	0.55492	2.254000	0.74563	0.655000	0.94253	CAG	PLXNA2	-	superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000076356		0.542	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0.00	110	0	G	NM_025179		208315706	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	6.38	88	6	SNP	1.000	T
PNMA2	10687	genome.wustl.edu	37	8	26366267	26366267	+	Missense_Mutation	SNP	G	G	T	rs147059463		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:26366267G>T	ENST00000522362.2	-	3	899	c.5C>A	c.(4-6)gCg>gAg	p.A2E	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	2					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		cagtgccagcgccattgtcct	0.478																																																	0													188.0	177.0	181.0					8																	26366267		2203	4300	6503	SO:0001583	missense	0				CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.5C>A	8.37:g.26366267G>T	ENSP00000429344:p.Ala2Glu		B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom	p.A2E	ENST00000522362.2	37	c.5	CCDS34868.1	8	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382483	0.42207	.	.	ENSG00000240694	ENST00000522362	T	0.16073	2.37	3.84	3.84	0.44239	.	.	.	.	.	T	0.23965	0.0580	L	0.58510	1.815	0.34776	D	0.734278	D	0.57571	0.98	P	0.48334	0.574	T	0.37641	-0.9697	9	0.87932	D	0	-9.3246	11.5564	0.50750	0.0:0.0:1.0:0.0	.	2	Q9UL42	PNMA2_HUMAN	E	2	ENSP00000429344:A2E	ENSP00000429344:A2E	A	-	2	0	PNMA2	26422184	0.993000	0.37304	0.936000	0.37596	0.070000	0.16714	3.689000	0.54706	2.429000	0.82318	0.655000	0.94253	GCG	PNMA2	-	NULL	ENSG00000240694		0.478	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA2	HGNC	protein_coding	OTTHUMT00000375709.2	-	0.00	53	0	G	NM_007257		26366267	-1	tier1	-	no_errors	ENST00000522362	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.946	T
PNOC	5368	genome.wustl.edu	37	8	28196744	28196744	+	Missense_Mutation	SNP	T	T	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:28196744T>G	ENST00000301908.3	+	3	522	c.314T>G	c.(313-315)tTc>tGc	p.F105C	PNOC_ENST00000522209.1_Missense_Mutation_p.F41C|RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	105					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGGAGCTTGTTCCAGGAGCAG	0.647																																																	0													34.0	39.0	38.0					8																	28196744		2203	4300	6503	SO:0001583	missense	0				CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"""Endogenous ligands"""	9163	protein-coding gene	gene with protein product	"""nocistatin"""	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.314T>G	8.37:g.28196744T>G	ENSP00000301908:p.Phe105Cys		B7Z749|Q6FH16	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept	p.F105C	ENST00000301908.3	37	c.314	CCDS6066.1	8	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096178	0.56075	.	.	ENSG00000168081	ENST00000518479;ENST00000301908;ENST00000522209	T;T	0.77750	0.89;-1.12	4.78	2.27	0.28462	.	1.326130	0.04408	N	0.365570	T	0.81513	0.4838	M	0.71206	2.165	0.22317	N	0.999202	P	0.50156	0.932	P	0.51193	0.662	T	0.63677	-0.6583	10	0.72032	D	0.01	-2.4238	4.0679	0.09869	0.18:0.0988:0.0:0.7212	.	105	Q13519	PNOC_HUMAN	C	105;105;41	ENSP00000428059:F105C;ENSP00000301908:F105C	ENSP00000301908:F105C	F	+	2	0	PNOC	28252663	0.001000	0.12720	0.024000	0.17045	0.003000	0.03518	0.818000	0.27295	0.860000	0.35481	-0.250000	0.11733	TTC	PNOC	-	NULL	ENSG00000168081		0.647	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNOC	HGNC	protein_coding	OTTHUMT00000219964.2	-	0.00	44	0	T	NM_006228		28196744	+1	tier1	-	no_errors	ENST00000301908	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.733	G
PNPO	55163	genome.wustl.edu	37	17	46019112	46019112	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:46019112A>G	ENST00000225573.4	+	1	176	c.71A>G	c.(70-72)cAc>cGc	p.H24R	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|PNPO_ENST00000544840.1_Missense_Mutation_p.H24R|AC003665.1_ENST00000411573.2_RNA|PNPO_ENST00000534893.1_5'UTR|PNPO_ENST00000434554.2_Missense_Mutation_p.H24R	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	24					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						TACCTCAGTCACCTGTGTGGT	0.716																																																	0													18.0	16.0	17.0					17																	46019112		2169	4248	6417	SO:0001583	missense	0			AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"""pyridoxine 5'-phosphate oxidase"""			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.71A>G	17.37:g.46019112A>G	ENSP00000225573:p.His24Arg		B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase	p.H24R	ENST00000225573.4	37	c.71	CCDS11522.1	17	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687508	0.29962	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840	T;T;T	0.72942	-0.68;-0.69;-0.7	5.22	0.373	0.16178	.	0.784451	0.11960	N	0.512849	T	0.51890	0.1701	N	0.25647	0.755	0.43126	D	0.994856	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30149	-0.9988	10	0.17832	T	0.49	-7.5547	8.0638	0.30648	0.6712:0.0:0.3288:0.0	.	24;24;24	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	R	24	ENSP00000225573:H24R;ENSP00000399960:H24R;ENSP00000446182:H24R	ENSP00000225573:H24R	H	+	2	0	PNPO	43374111	0.009000	0.17119	0.120000	0.21714	0.186000	0.23388	-0.064000	0.11636	0.106000	0.17784	-0.376000	0.06991	CAC	PNPO	-	NULL	ENSG00000108439		0.716	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPO	HGNC	protein_coding	OTTHUMT00000441407.1	-	0.00	22	0	A	NM_018129		46019112	+1	tier1	-	no_errors	ENST00000225573	ensembl	human	known	74_37	missense	56.25	14	18	SNP	0.010	G
PREPL	9581	genome.wustl.edu	37	2	44553863	44553863	+	Silent	SNP	C	C	T	rs140525819		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:44553863C>T	ENST00000409936.1	-	11	2171	c.1734G>A	c.(1732-1734)gcG>gcA	p.A578A	PREPL_ENST00000410081.1_Silent_p.A578A|PREPL_ENST00000409411.1_Silent_p.A489A|PREPL_ENST00000260648.6_Silent_p.A578A|PREPL_ENST00000409272.1_Silent_p.A578A|PREPL_ENST00000378520.3_Silent_p.A512A|PREPL_ENST00000378511.3_Silent_p.A516A|PREPL_ENST00000409957.1_Silent_p.A489A|PREPL_ENST00000541738.1_Silent_p.A489A	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	578						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.A578A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCAAAGTCACCGCTCTCACCA	0.483																																																	1	Substitution - coding silent(1)	lung(1)						C	,,,,,,	2,4404	4.2+/-10.8	0,2,2201	95.0	89.0	91.0		1548,1536,1734,1734,1467,1467,1734	-8.0	0.5	2	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PREPL	NM_001042385.2,NM_001042386.2,NM_001171603.1,NM_001171606.1,NM_001171613.1,NM_001171617.1,NM_006036.4	,,,,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,,,,	516/666,512/662,578/728,578/728,489/639,489/639,578/728	44553863	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1734G>A	2.37:g.44553863C>T			A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A	p.A578	ENST00000409936.1	37	c.1734	CCDS33190.1	2																																																																																			PREPL	-	pfam_Peptidase_S9	ENSG00000138078		0.483	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1		0.00	62	0	C	NM_006036		44553863	-1			no_errors	ENST00000260648	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.151	T
PRF1	5551	genome.wustl.edu	37	10	72358262	72358262	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:72358262C>A	ENST00000441259.1	-	3	1375	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H	PRF1_ENST00000373209.2_Missense_Mutation_p.Q405H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	405	EGF-like.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCAGCAGTCCTGGGTGGTGA	0.682			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0													23.0	24.0	24.0					10																	72358262		2201	4289	6490	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1215G>T	10.37:g.72358262C>A	ENSP00000398568:p.Gln405His		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom	p.Q405H	ENST00000441259.1	37	c.1215	CCDS7305.1	10	.	.	.	.	.	.	.	.	.	.	C	9.823	1.186319	0.21870	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.95622	-3.76;-3.76	5.83	-2.33	0.06724	C2 calcium/lipid-binding domain, CaLB (1);	0.899355	0.09577	N	0.783395	D	0.90160	0.6925	L	0.46157	1.445	0.19300	N	0.999977	B	0.10296	0.003	B	0.04013	0.001	T	0.78692	-0.2105	10	0.40728	T	0.16	-9.91	2.2272	0.03987	0.1063:0.3028:0.3135:0.2774	.	405	P14222	PERF_HUMAN	H	405	ENSP00000362305:Q405H;ENSP00000398568:Q405H	ENSP00000316746:Q405H	Q	-	3	2	PRF1	72028268	0.000000	0.05858	0.211000	0.23655	0.762000	0.43233	-0.655000	0.05348	-0.116000	0.11893	0.655000	0.94253	CAG	PRF1	-	superfamily_C2_dom	ENSG00000180644		0.682	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	HGNC	protein_coding	OTTHUMT00000048517.2	-	0.00	46	0	C	NM_005041		72358262	-1	tier1	-	no_errors	ENST00000373209	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.000	A
PRICKLE1	144165	genome.wustl.edu	37	12	42854063	42854063	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:42854063G>T	ENST00000455697.1	-	8	2329	c.2044C>A	c.(2044-2046)Cgc>Agc	p.R682S	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R682S|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R682S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R682S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R682S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	682	Arg/His-rich.		R -> C (may be associated with NTD). {ECO:0000269|PubMed:21901791}.		negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTGTCGGAGCGGGACTTTCTA	0.502																																																	0													57.0	59.0	58.0					12																	42854063		2203	4300	6503	SO:0001583	missense	0			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2044C>A	12.37:g.42854063G>T	ENSP00000401060:p.Arg682Ser		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R682S	ENST00000455697.1	37	c.2044	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356311	0.61293	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8	5.53	4.62	0.57501	.	0.047526	0.85682	D	0.000000	D	0.92286	0.7553	M	0.72894	2.215	0.58432	D	0.999999	D	0.60575	0.988	P	0.51582	0.674	D	0.93106	0.6512	10	0.87932	D	0	-7.5175	15.2779	0.73756	0.0706:0.0:0.9294:0.0	.	682	Q96MT3	PRIC1_HUMAN	S	682	ENSP00000401060:R682S;ENSP00000398947:R682S;ENSP00000448359:R682S;ENSP00000345064:R682S;ENSP00000449819:R682S	ENSP00000345064:R682S	R	-	1	0	PRICKLE1	41140330	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	7.530000	0.81962	2.759000	0.94783	0.650000	0.86243	CGC	PRICKLE1	-	NULL	ENSG00000139174		0.502	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1		0.00	74	0	G			42854063	-1			no_errors	ENST00000345127	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
PRKCA	5578	genome.wustl.edu	37	17	64800090	64800090	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:64800090G>T	ENST00000413366.3	+	17	1980	c.1954G>T	c.(1954-1956)Gat>Tat	p.D652Y		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	652	AGC-kinase C-terminal.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	AGACCAGTCTGATTTTGAAGG	0.498																																																	0													157.0	131.0	140.0					17																	64800090		2203	4300	6503	SO:0001583	missense	0				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1954G>T	17.37:g.64800090G>T	ENSP00000408695:p.Asp652Tyr		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.D652Y	ENST00000413366.3	37	c.1954	CCDS11664.1	17	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305960	0.81247	.	.	ENSG00000154229	ENST00000413366	T	0.59083	0.29	5.57	5.57	0.84162	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.064020	0.64402	D	0.000009	T	0.70833	0.3269	L	0.45422	1.42	0.80722	D	1	D	0.62365	0.991	D	0.69654	0.965	T	0.72620	-0.4238	10	0.87932	D	0	.	19.5529	0.95328	0.0:0.0:1.0:0.0	.	652	P17252	KPCA_HUMAN	Y	652	ENSP00000408695:D652Y	ENSP00000408695:D652Y	D	+	1	0	PRKCA	62230552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.621000	0.88768	0.655000	0.94253	GAT	PRKCA	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g	ENSG00000154229		0.498	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	HGNC	protein_coding	OTTHUMT00000446976.1	-	0.00	102	0	G			64800090	+1	tier1	-	no_errors	ENST00000413366	ensembl	human	known	74_37	missense	7.41	74	6	SNP	1.000	T
PRMT8	56341	genome.wustl.edu	37	12	3702562	3702562	+	3'UTR	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:3702562G>A	ENST00000382622.3	+	0	1789				PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8						histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			AGCCCTTCACGAAGGCTTTGT	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.*214G>A	12.37:g.3702562G>A			B2RDP0|Q8TBJ8	RNA	SNP	-	NULL	ENST00000382622.3	37	NULL	CCDS8521.2	12																																																																																			PRMT8	-	-	ENSG00000111218		0.612	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	-	0.00	13	0	G	NM_019854		3702562	+1	tier1	-	no_errors	ENST00000261252	ensembl	human	known	74_37	rna	35.71	9	5	SNP	0.002	A
PRUNE2	158471	genome.wustl.edu	37	9	79326063	79326063	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:79326063G>A	ENST00000376718.3	-	8	1250	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A17V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	376					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGAGAGGGGGGCACTGCCTGC	0.522																																																	0													36.0	33.0	34.0					9																	79326063		1568	3582	5150	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1127C>T	9.37:g.79326063G>A	ENSP00000365908:p.Ala376Val		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.A17V	ENST00000376718.3	37	c.50	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878403	0.72294	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.68331	0.36;-0.32	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000049	T	0.73976	0.3656	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74853	-0.3523	10	0.51188	T	0.08	-12.7679	20.1379	0.98040	0.0:0.0:1.0:0.0	.	376	Q8WUY3	PRUN2_HUMAN	V	376;17;375	ENSP00000365908:A376V;ENSP00000397425:A17V	ENSP00000365908:A376V	A	-	2	0	PRUNE2	78515883	1.000000	0.71417	0.984000	0.44739	0.941000	0.58515	6.747000	0.74872	2.779000	0.95612	0.655000	0.94253	GCC	PRUNE2	-	NULL	ENSG00000106772		0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2		0.00	61	0	G	NM_138818		79326063	-1			no_errors	ENST00000428286	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.998	A
PSD4	23550	genome.wustl.edu	37	2	113943280	113943280	+	Intron	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:113943280G>T	ENST00000245796.6	+	5	1444				PSD4_ENST00000441564.3_Intron	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGAGTCCTGGGAGCCCGCT	0.587																																																	0																																										SO:0001627	intron_variant	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1250-174G>T	2.37:g.113943280G>T			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	RNA	SNP	-	NULL	ENST00000245796.6	37	NULL	CCDS33276.1	2																																																																																			PSD4	-	-	ENSG00000125637		0.587	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0.00	81	0	G	NM_012455		113943280	+1	tier1	-	no_errors	ENST00000485525	ensembl	human	known	74_37	rna	31.34	44	21	SNP	0.004	T
PSMA6	5687	genome.wustl.edu	37	14	35783624	35783624	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:35783624G>A	ENST00000261479.4	+	6	766	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	PSMA6_ENST00000555764.1_Missense_Mutation_p.E137K|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000553809.1_Missense_Mutation_p.E222K|PSMA6_ENST00000540871.1_Missense_Mutation_p.E197K|KIAA0391_ENST00000557565.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	216					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 NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|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)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TTCAGAAATAGAAGTTGGAGT	0.363																																																	0													60.0	56.0	58.0					14																	35783624		2203	4299	6502	SO:0001583	missense	0			X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.646G>A	14.37:g.35783624G>A	ENSP00000261479:p.Glu216Lys		B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.E216K	ENST00000261479.4	37	c.646	CCDS9655.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.604432	0.96626	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000555764	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84453	0.0589	10	0.87932	D	0	-33.0763	19.8592	0.96777	0.0:0.0:1.0:0.0	.	216	P60900	PSA6_HUMAN	K	197;216;222;137	ENSP00000444844:E197K;ENSP00000261479:E216K;ENSP00000452603:E222K;ENSP00000452566:E137K	ENSP00000261479:E216K	E	+	1	0	PSMA6	34853375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.852000	0.99516	2.770000	0.95276	0.650000	0.86243	GAA	PSMA6	-	pfam_Proteasome_sua/b	ENSG00000100902		0.363	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSMA6	HGNC	protein_coding	OTTHUMT00000276684.1	-	0.00	65	0	G			35783624	+1	tier1	-	no_errors	ENST00000261479	ensembl	human	known	74_37	missense	11.59	61	8	SNP	1.000	A
PTENP1	11191	genome.wustl.edu	37	9	33676991	33676992	+	RNA	INS	-	-	CCGA	rs370163456|rs560135616	byFrequency	TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:33676991_33676992insCCGA	ENST00000532280.1	-	0	505_506					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TTAAAACCGGCCCGGGTCCCTC	0.703														354	0.0706869	0.1029	0.0893	5008	,	,		8563	0.12		0.0139	False		,,,				2504	0.0215																0																																												0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676991_33676992insCCGA				RNA	INS	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.703	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1		0.00	12	0	-	NR_023917		33676992	-1	tier1		no_errors	ENST00000532280	ensembl	human	known	74_37	rna	71.43	2	5	INS	0.091:0.087	CCGA
PTCH1	5727	genome.wustl.edu	37	9	98239986	98239986	+	Splice_Site	SNP	T	T	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:98239986T>A	ENST00000331920.6	-	10	1647		c.e10-2		PTCH1_ENST00000437951.1_Splice_Site|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000421141.1_Splice_Site|PTCH1_ENST00000418258.1_Splice_Site|PTCH1_ENST00000429896.2_Splice_Site|PTCH1_ENST00000375274.2_Splice_Site|PTCH1_ENST00000430669.2_Splice_Site	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1						brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ATAGGCGAGCTGCAAGCAGAA	0.547																																																	0													34.0	33.0	33.0					9																	98239986		2203	4300	6503	SO:0001630	splice_region_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1348-2A>T	9.37:g.98239986T>A			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Splice_Site	SNP	-	e10-2	ENST00000331920.6	37	c.1348-2	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356482	0.82243	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9842	0.71332	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTCH1	97279807	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.514000	0.81750	2.117000	0.64856	0.533000	0.62120	.	PTCH1	-	-	ENSG00000185920		0.547	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	-	0.00	78	0	T	NM_000264	Intron	98239986	-1	tier1	-	no_errors	ENST00000331920	ensembl	human	known	74_37	splice_site	86.96	6	40	SNP	1.000	A
PTPN2	5771	genome.wustl.edu	37	18	12802116	12802116	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr18:12802116G>C	ENST00000309660.5	-	8	986	c.893C>G	c.(892-894)tCt>tGt	p.S298C	PTPN2_ENST00000591497.1_Missense_Mutation_p.S269C|PTPN2_ENST00000353319.4_Missense_Mutation_p.S298C|PTPN2_ENST00000327283.3_Missense_Mutation_p.S298C|PTPN2_ENST00000591115.1_Missense_Mutation_p.S321C	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	298					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAAGGCAGGAGATAAGTCTTC	0.318																																																	0													95.0	82.0	87.0					18																	12802116		2203	4300	6503	SO:0001583	missense	0			M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.893C>G	18.37:g.12802116G>C	ENSP00000311857:p.Ser298Cys		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S298C	ENST00000309660.5	37	c.893	CCDS11865.1	18	.	.	.	.	.	.	.	.	.	.	G	9.858	1.195389	0.22037	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	T;T;T	0.04156	3.69;3.71;3.69	5.52	1.58	0.23477	.	0.539313	0.16636	N	0.205840	T	0.02342	0.0072	N	0.08118	0	0.09310	N	0.999992	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.0;0.0	T	0.44498	-0.9324	10	0.37606	T	0.19	.	4.6839	0.12748	0.0837:0.3344:0.4538:0.1281	.	298;298;275;298;298	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	C	298;298;275;298	ENSP00000320298:S298C;ENSP00000320546:S298C;ENSP00000311857:S298C	ENSP00000311857:S298C	S	-	2	0	PTPN2	12792116	0.995000	0.38212	0.650000	0.29550	0.988000	0.76386	1.748000	0.38308	0.066000	0.16515	0.557000	0.71058	TCT	PTPN2	-	pirsf_Ptpn1/Ptpn2	ENSG00000175354		0.318	PTPN2-002	KNOWN	basic|CCDS	protein_coding	PTPN2	HGNC	protein_coding	OTTHUMT00000254613.3	-	0.00	60	0	G	NM_002828, NM_080422, NM_080423		12802116	-1	tier1	-	no_errors	ENST00000309660	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.430	C
PTPRT	11122	genome.wustl.edu	37	20	41100980	41100980	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr20:41100980C>T	ENST00000373187.1	-	8	1375	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	PTPRT_ENST00000373190.1_Missense_Mutation_p.R459Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R459Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R459Q|PTPRT_ENST00000373198.4_Missense_Mutation_p.R459Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R459Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R459Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	459	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGTCGCAGCCGGATGGTCAT	0.602																																																	0													56.0	61.0	59.0					20																	41100980		2139	4244	6383	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1376G>A	20.37:g.41100980C>T	ENSP00000362283:p.Arg459Gln		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R459Q	ENST00000373187.1	37	c.1376	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107095	0.37145	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.28	4.13	0.48395	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.280739	0.35207	N	0.003365	T	0.31389	0.0795	N	0.25647	0.755	0.37488	D	0.916266	B;B	0.20052	0.041;0.024	B;B	0.19148	0.024;0.007	T	0.16778	-1.0391	10	0.15066	T	0.55	.	11.3478	0.49571	0.0:0.8416:0.0:0.1584	.	459;459	O14522-1;O14522	.;PTPRT_HUMAN	Q	459	ENSP00000362286:R459Q;ENSP00000362283:R459Q;ENSP00000362289:R459Q;ENSP00000348408:R459Q;ENSP00000362294:R459Q;ENSP00000362280:R459Q;ENSP00000362297:R459Q	ENSP00000348408:R459Q	R	-	2	0	PTPRT	40534394	0.918000	0.31147	1.000000	0.80357	0.875000	0.50365	2.084000	0.41625	2.480000	0.83734	0.455000	0.32223	CGG	PTPRT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196090		0.602	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0.00	81	0	C			41100980	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	41.38	34	24	SNP	0.970	T
RABGAP1L	9910	genome.wustl.edu	37	1	174606588	174606589	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:174606588_174606589GG>TT	ENST00000251507.4	+	14	1960_1961	c.1786_1787GG>TT	c.(1786-1788)GGa>TTa	p.G596L		NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TAAAGATACTGGAGGAGATGGT	0.366																																																	0																																										SO:0001583	missense	0			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	Exception_encountered	1.37:g.174606588_174606589delinsTT	ENSP00000251507:p.Gly596Leu		B7ZAA4	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.G596*|p.G596V	ENST00000251507.4	37	c.1786|c.1787	CCDS1314.1	1																																																																																			RABGAP1L	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000152061		0.366	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084497.1	-	0.00	105|106	0	G	NM_001243765		174606588|174606589	+1	tier1	-	no_errors	ENST00000251507	ensembl	human	known	74_37	nonsense|missense	29.63|28.92	57|59	24	SNP	1.000	T
RALGPS2	55103	genome.wustl.edu	37	1	178780524	178780524	+	Silent	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:178780524T>C	ENST00000367635.3	+	6	710	c.372T>C	c.(370-372)taT>taC	p.Y124Y	RALGPS2_ENST00000367634.2_Silent_p.Y124Y	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	124	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGAGCCACTATATTAAAACTG	0.269																																																	0													55.0	66.0	62.0					1																	178780524		2201	4274	6475	SO:0001819	synonymous_variant	0			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.372T>C	1.37:g.178780524T>C			B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Silent	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.Y124	ENST00000367635.3	37	c.372	CCDS1325.1	1																																																																																			RALGPS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000116191		0.269	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	-	0.00	189	0	T	NM_152663		178780524	+1	tier1	-	no_errors	ENST00000367635	ensembl	human	known	74_37	silent	18.04	159	35	SNP	1.000	C
RALGPS2	55103	genome.wustl.edu	37	1	178848093	178848093	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:178848093G>C	ENST00000367635.3	+	10	1140	c.802G>C	c.(802-804)Gaa>Caa	p.E268Q	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.E268Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	268	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTATATAGAAGAACTACAAAA	0.338																																																	0													79.0	80.0	80.0					1																	178848093		2202	4297	6499	SO:0001583	missense	0			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.802G>C	1.37:g.178848093G>C	ENSP00000356607:p.Glu268Gln		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.E268Q	ENST00000367635.3	37	c.802	CCDS1325.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.67|19.67	3.870754|3.870754	0.72065|0.72065	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778|ENST00000415888	T;T;T|.	0.32988|.	1.43;1.43;1.43|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69602|0.69602	0.3129|0.3129	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	P;P|.	0.42757|.	0.647;0.789|.	B;B|.	0.37144|.	0.242;0.173|.	T|T	0.64888|0.64888	-0.6301|-0.6301	10|5	0.66056|.	D|.	0.02|.	.|.	19.2348|19.2348	0.93855|0.93855	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	268;268|.	B7Z7B1;Q86X27|.	.;RGPS2_HUMAN|.	Q|T	268;268;233|5	ENSP00000356607:E268Q;ENSP00000356606:E268Q;ENSP00000313613:E233Q|.	ENSP00000313613:E233Q|.	E|R	+|+	1|2	0|0	RALGPS2|RALGPS2	177114716|177114716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.813000|9.813000	0.99286|0.99286	2.721000|2.721000	0.93114|0.93114	0.585000|0.585000	0.79938|0.79938	GAA|AGA	RALGPS2	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000116191		0.338	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	-	0.00	93	0	G	NM_152663		178848093	+1	tier1	-	no_errors	ENST00000367635	ensembl	human	known	74_37	missense	8.33	88	8	SNP	1.000	C
RALGPS2	55103	genome.wustl.edu	37	1	178848102	178848102	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:178848102A>C	ENST00000367635.3	+	10	1149	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.K271Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	271	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGAACTACAAAAATTTGTGGA	0.333																																																	0													72.0	74.0	73.0					1																	178848102		2202	4298	6500	SO:0001583	missense	0			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.811A>C	1.37:g.178848102A>C	ENSP00000356607:p.Lys271Gln		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.K271Q	ENST00000367635.3	37	c.811	CCDS1325.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.9|23.9	4.470866|4.470866	0.84533|0.84533	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778|ENST00000415888	T;T;T|.	0.47177|.	0.85;0.85;0.85|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.72795|0.72795	0.3505|0.3505	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	B;P|.	0.50156|.	0.075;0.932|.	B;B|.	0.44278|.	0.023;0.445|.	T|T	0.72527|0.72527	-0.4266|-0.4266	10|6	0.62326|.	D|.	0.03|.	.|.	15.4637|15.4637	0.75381|0.75381	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	271;271|.	B7Z7B1;Q86X27|.	.;RGPS2_HUMAN|.	Q|T	271;271;236|8	ENSP00000356607:K271Q;ENSP00000356606:K271Q;ENSP00000313613:K236Q|.	ENSP00000313613:K236Q|.	K|K	+|+	1|2	0|0	RALGPS2|RALGPS2	177114725|177114725	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	9.287000|9.287000	0.95975|0.95975	2.197000|2.197000	0.70478|0.70478	0.477000|0.477000	0.44152|0.44152	AAA|AAA	RALGPS2	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000116191		0.333	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	-	0.00	95	0	A	NM_152663		178848102	+1	tier1	-	no_errors	ENST00000367635	ensembl	human	known	74_37	missense	7.37	88	7	SNP	1.000	C
RASGRP1	10125	genome.wustl.edu	37	15	38852065	38852065	+	Silent	SNP	T	T	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:38852065T>A	ENST00000310803.5	-	2	354	c.177A>T	c.(175-177)ggA>ggT	p.G59G	RASGRP1_ENST00000539159.1_Silent_p.G11G|RASGRP1_ENST00000561180.1_Silent_p.G110G|RASGRP1_ENST00000450598.2_Silent_p.G59G|RASGRP1_ENST00000558164.1_Silent_p.G59G|RASGRP1_ENST00000559830.1_Silent_p.G59G	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	59	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.|Ras exchanger motif region; required for transforming activity. {ECO:0000250}.				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)		CCAGGCTGGCTCCTTTGGCTA	0.502																																																	0													77.0	81.0	80.0					15																	38852065		1959	4155	6114	SO:0001819	synonymous_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.177A>T	15.37:g.38852065T>A			Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.G59	ENST00000310803.5	37	c.177	CCDS45222.1	15																																																																																			RASGRP1	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000172575		0.502	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRP1	HGNC	protein_coding	OTTHUMT00000418223.1	-	0.00	77	0	T	NM_005739		38852065	-1	tier1	-	no_errors	ENST00000310803	ensembl	human	known	74_37	silent	37.70	38	23	SNP	1.000	A
RCN1	5954	genome.wustl.edu	37	11	32119956	32119956	+	Missense_Mutation	SNP	G	G	A	rs375977831		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:32119956G>A	ENST00000054950.3	+	3	802	c.509G>A	c.(508-510)cGt>cAt	p.R170H	RCN1_ENST00000532942.1_Missense_Mutation_p.R119H|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	170	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)	p.R170H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					ATGCTGCCACGTGATGAGAGA	0.448																																																	1	Substitution - Missense(1)	endometrium(1)						G	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	71.0	66.0	68.0		509	5.4	0.9	11		68	0,8592		0,0,4296	no	missense	RCN1	NM_002901.2	29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	170/332	32119956	1,12995	2202	4296	6498	SO:0001583	missense	0			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.509G>A	11.37:g.32119956G>A	ENSP00000054950:p.Arg170His		B7Z1M1|D3DR00	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R170H	ENST00000054950.3	37	c.509	CCDS7876.1	11	.	.	.	.	.	.	.	.	.	.	g	34	5.399300	0.96030	2.27E-4	0.0	ENSG00000049449	ENST00000530348;ENST00000532942;ENST00000054950;ENST00000532721	T;T;T	0.55760	0.56;0.5;0.53	5.45	5.45	0.79879	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79125	0.4393	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.977;0.997	T	0.83229	-0.0064	10	0.72032	D	0.01	-7.4243	19.295	0.94118	0.0:0.0:1.0:0.0	.	170;119	Q15293;B7Z1M1	RCN1_HUMAN;.	H	4;119;170;4	ENSP00000436482:R4H;ENSP00000436422:R119H;ENSP00000054950:R170H	ENSP00000054950:R170H	R	+	2	0	RCN1	32076532	1.000000	0.71417	0.885000	0.34714	0.928000	0.56348	9.869000	0.99810	2.569000	0.86673	0.591000	0.81541	CGT	RCN1	-	pfscan_EF_hand_dom	ENSG00000049449		0.448	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN1	HGNC	protein_coding	OTTHUMT00000388510.1		0.00	93	0	G	NM_002901		32119956	+1			no_errors	ENST00000054950	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.998	A
RER1	11079	genome.wustl.edu	37	1	2330933	2330933	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:2330933C>T	ENST00000605895.1	+	4	399	c.266C>T	c.(265-267)cCt>cTt	p.P89L	RER1_ENST00000378513.3_Intron|RER1_ENST00000378512.1_Missense_Mutation_p.P89L|RER1_ENST00000378518.1_Intron|RER1_ENST00000488353.1_Missense_Mutation_p.P89L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	89					positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		AAAGTGGATCCTTCCTTAATG	0.483																																																	0													101.0	102.0	101.0					1																	2330933		1954	4147	6101	SO:0001583	missense	0			AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"""RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"""			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.266C>T	1.37:g.2330933C>T	ENSP00000475168:p.Pro89Leu		O95322	Missense_Mutation	SNP	pfam_Rer1,pirsf_Rer1	p.P89L	ENST00000605895.1	37	c.266	CCDS41232.1	1	.	.	.	.	.	.	.	.	.	.	c	33	5.229203	0.95173	.	.	ENSG00000157916	ENST00000306256;ENST00000434662;ENST00000378512;ENST00000443438	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91186	0.4980	9	0.87932	D	0	.	18.2556	0.90019	0.0:1.0:0.0:0.0	.	89;89	Q5T091;O15258	.;RER1_HUMAN	L	89	.	ENSP00000302088:P89L	P	+	2	0	RER1	2320793	1.000000	0.71417	0.636000	0.29352	0.996000	0.88848	6.991000	0.76232	2.549000	0.85964	0.586000	0.80456	CCT	RER1	-	pfam_Rer1,pirsf_Rer1	ENSG00000157916		0.483	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RER1	HGNC	protein_coding	OTTHUMT00000004061.2	-	0.00	88	0	C			2330933	+1	tier1	-	no_errors	ENST00000488353	ensembl	human	known	74_37	missense	10.59	75	9	SNP	1.000	T
RIMS2	9699	genome.wustl.edu	37	8	105261014	105261014	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:105261014C>T	ENST00000436393.2	+	25	3857	c.3616C>T	c.(3616-3618)Cgc>Tgc	p.R1206C	RIMS2_ENST00000262231.10_Missense_Mutation_p.R1027C|RIMS2_ENST00000339750.2_Missense_Mutation_p.R124C|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1188C|RIMS2_ENST00000507740.1_Missense_Mutation_p.R1002C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1250					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCTAGTGGGACGCCAGACTCT	0.428										HNSCC(12;0.0054)																																							0													96.0	96.0	96.0					8																	105261014		2156	4283	6439	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3616C>T	8.37:g.105261014C>T	ENSP00000390665:p.Arg1206Cys		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R1188C	ENST00000436393.2	37	c.3562		8	.	.	.	.	.	.	.	.	.	.	C	25.1	4.597826	0.87055	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.39229	2.17;1.94;2.01;1.09;1.96;1.89;1.85	5.34	5.34	0.76211	.	.	.	.	.	T	0.65176	0.2666	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.995;1.0;1.0	D;D;D;D;D	0.79784	0.969;0.979;0.957;0.986;0.993	T	0.67389	-0.5683	9	0.87932	D	0	.	19.4079	0.94655	0.0:1.0:0.0:0.0	.	1250;1206;1027;1002;1188	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	1225;1188;1250;1027;1002;1195;1206;124;124	ENSP00000384892:R1188C;ENSP00000262231:R1027C;ENSP00000423559:R1002C;ENSP00000386228:R1195C;ENSP00000390665:R1206C;ENSP00000428478:R124C;ENSP00000342051:R124C	ENSP00000262231:R1027C	R	+	1	0	RIMS2	105330190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.910000	0.69931	2.664000	0.90586	0.650000	0.86243	CGC	RIMS2	-	NULL	ENSG00000176406		0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0.00	68	0	C	NM_001100117		105261014	+1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	T
RIN1	9610	genome.wustl.edu	37	11	66100109	66100109	+	Silent	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:66100109G>T	ENST00000311320.4	-	10	2116	c.1990C>A	c.(1990-1992)Cga>Aga	p.R664R	RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000424433.2_Silent_p.R559R|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Silent_p.R498R	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	664	Ras and 14-3-3 protein binding region.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TGGGTCACTCGGAACTTGGTG	0.647																																																	0													107.0	114.0	111.0					11																	66100109		2200	4295	6495	SO:0001819	synonymous_variant	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1990C>A	11.37:g.66100109G>T			O15010|Q00427|Q96CC8	Silent	SNP	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.R664	ENST00000311320.4	37	c.1990	CCDS31614.1	11																																																																																			RIN1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000174791		0.647	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	-	0.00	83	0	G	NM_004292		66100109	-1	tier1	-	no_errors	ENST00000311320	ensembl	human	known	74_37	silent	15.00	68	12	SNP	1.000	T
RLIM	51132	genome.wustl.edu	37	X	73812330	73812330	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:73812330G>A	ENST00000332687.6	-	4	1038	c.820C>T	c.(820-822)Caa>Taa	p.Q274*	RLIM_ENST00000349225.2_Nonsense_Mutation_p.Q274*	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	274					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAGATATTTGCTGCCTCAAT	0.458																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0													85.0	79.0	81.0					X																	73812330		2203	4300	6503	SO:0001587	stop_gained	0			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.820C>T	X.37:g.73812330G>A	ENSP00000328059:p.Gln274*		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q274*	ENST00000332687.6	37	c.820	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.352647	0.97498	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	.	.	.	5.79	5.79	0.91817	.	0.435749	0.27645	N	0.018449	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.902	19.0094	0.92867	0.0:0.0:1.0:0.0	.	.	.	.	X	274	.	ENSP00000328059:Q274X	Q	-	1	0	RLIM	73729055	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.767000	0.68850	2.437000	0.82529	0.600000	0.82982	CAA	RLIM	-	NULL	ENSG00000131263		0.458	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1		0.00	22	0	G	NM_016120		73812330	-1			no_errors	ENST00000332687	ensembl	human	known	74_37	nonsense	12.50	28	4	SNP	0.999	A
GOLGA8T	653075	genome.wustl.edu	37	15	30436027	30436027	+	Intron	SNP	A	A	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:30436027A>T	ENST00000569052.1	+	14	1276				RN7SL469P_ENST00000491512.2_RNA|AC120045.2_ENST00000408858.1_RNA					golgin A8 family, member T																		gttcggcatcagtgtggtgac	0.562																																																	0																																										SO:0001627	intron_variant	0					15q13.2	2013-01-17			ENSG00000261247	ENSG00000261247			44410	other	unknown							Standard	NR_033933		Approved		uc021sha.1		OTTHUMG00000175638	ENST00000569052.1:c.1276+143A>T	15.37:g.30436027A>T				RNA	SNP	-	NULL	ENST00000569052.1	37	NULL		15																																																																																			RN7SL469P	-	-	ENSG00000241167		0.562	GOLGA8T-001	NOVEL	basic|appris_principal	protein_coding	RN7SL469P	HGNC	protein_coding	OTTHUMT00000430690.1	-	0.00	23	0	A	NR_033933		30436027	+1	tier1	-	no_errors	ENST00000491512	ensembl	human	known	74_37	rna	16.22	31	6	SNP	0.015	T
RPL3L	6123	genome.wustl.edu	37	16	1994875	1994875	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr16:1994875A>G	ENST00000268661.7	-	10	1281	c.1187T>C	c.(1186-1188)cTg>cCg	p.L396P	MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000564908.1_5'Flank|MSRB1_ENST00000361871.3_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	396					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)|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 large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TTCCTTCTCCAGATGCTTCTT	0.592																																																	0													132.0	136.0	135.0					16																	1994875		2199	4300	6499	SO:0001583	missense	0			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.1187T>C	16.37:g.1994875A>G	ENSP00000268661:p.Leu396Pro			Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_B-barrel	p.L396P	ENST00000268661.7	37	c.1187	CCDS10450.1	16	.	.	.	.	.	.	.	.	.	.	A	12.37	1.917013	0.33815	.	.	ENSG00000140986	ENST00000268661	T	0.33865	1.39	4.49	3.38	0.38709	.	0.296762	0.27482	N	0.019165	T	0.31263	0.0791	L	0.54323	1.7	0.58432	D	0.999993	B	0.29909	0.261	B	0.21546	0.035	T	0.09640	-1.0665	10	0.52906	T	0.07	-13.0084	10.7752	0.46346	0.8408:0.1592:0.0:0.0	.	396	Q92901	RL3L_HUMAN	P	396	ENSP00000268661:L396P	ENSP00000268661:L396P	L	-	2	0	RPL3L	1934876	0.979000	0.34478	0.983000	0.44433	0.873000	0.50193	3.168000	0.50801	0.679000	0.31345	0.379000	0.24179	CTG	RPL3L	-	NULL	ENSG00000140986		0.592	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3L	HGNC	protein_coding	OTTHUMT00000250582.2	-	0.00	60	0	A	NM_005061		1994875	-1	tier1	-	no_errors	ENST00000268661	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.986	G
RPN2	6185	genome.wustl.edu	37	20	35864999	35864999	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr20:35864999G>T	ENST00000237530.6	+	16	2081	c.1770G>T	c.(1768-1770)atG>atT	p.M590I	RPN2_ENST00000373622.5_Missense_Mutation_p.M558I|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	590					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TGGGACTCATGTATGTCTACT	0.488																																																	0													137.0	106.0	116.0					20																	35864999		2203	4300	6503	SO:0001583	missense	0			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1770G>T	20.37:g.35864999G>T	ENSP00000237530:p.Met590Ile		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	pfam_Swp1	p.M590I	ENST00000237530.6	37	c.1770	CCDS13291.1	20	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500731	0.85176	.	.	ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000397161;ENST00000437329	T;T;T	0.46063	0.88;0.88;0.88	4.98	4.98	0.66077	.	0.042277	0.85682	D	0.000000	T	0.52354	0.1729	L	0.57536	1.79	0.58432	D	0.999999	D;P	0.53462	0.96;0.931	P;P	0.54270	0.747;0.747	T	0.43605	-0.9381	10	0.28530	T	0.3	-19.6506	15.8004	0.78450	0.0:0.0:1.0:0.0	.	558;590	Q5JYR6;P04844	.;RPN2_HUMAN	I	590;558;97;97	ENSP00000237530:M590I;ENSP00000362724:M558I;ENSP00000409580:M97I	ENSP00000237530:M590I	M	+	3	0	RPN2	35298413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.263000	0.95617	2.584000	0.87258	0.561000	0.74099	ATG	RPN2	-	pfam_Swp1	ENSG00000118705		0.488	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN2	HGNC	protein_coding	OTTHUMT00000079076.2	-	0.00	37	0	G	NM_002951		35864999	+1	tier1	-	no_errors	ENST00000237530	ensembl	human	known	74_37	missense	32.81	43	21	SNP	1.000	T
RPS13	6207	genome.wustl.edu	37	11	17098716	17098716	+	Splice_Site	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:17098716G>A	ENST00000525634.1	-	3	295	c.150C>T	c.(148-150)atC>atT	p.I50I	RPS13_ENST00000526895.1_5'UTR|SNORD14A_ENST00000606526.1_RNA|SNORD14B_ENST00000364533.1_RNA|PIK3C2A_ENST00000531428.1_5'Flank|RPS13_ENST00000228140.2_Splice_Site_p.I50I			P62277	RS13_HUMAN	ribosomal protein S13	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|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)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						AACACTCACCGATCTGTGAAG	0.433																																																	0													163.0	152.0	155.0					11																	17098716		2200	4294	6494	SO:0001630	splice_region_variant	0			X79239	CCDS7823.1	11p	2011-04-05			ENSG00000110700	ENSG00000110700		"""S ribosomal proteins"""	10386	protein-coding gene	gene with protein product	"""40S ribosomal protein S13"""	180476				8332508, 9582194	Standard	NM_001017		Approved	S13	uc001mmp.3	P62277	OTTHUMG00000165988	ENST00000525634.1:c.151+1C>T	11.37:g.17098716G>A			B2R549|P19116|Q02546|Q29200|Q498Y0	Silent	SNP	pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd	p.I50	ENST00000525634.1	37	c.150	CCDS7823.1	11																																																																																			RPS13	-	pfam_Ribosomal_S13/S15_N	ENSG00000110700		0.433	RPS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS13	HGNC	protein_coding	OTTHUMT00000387320.2	-	0.00	35	0	G	NM_001017	Silent	17098716	-1	tier1	-	no_errors	ENST00000525634	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.999	A
RUNX1	861	genome.wustl.edu	37	21	36259190	36259190	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr21:36259190C>T	ENST00000344691.4	-	1	1797	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	RUNX1_ENST00000358356.5_Missense_Mutation_p.V74M|RUNX1_ENST00000399240.1_Missense_Mutation_p.V74M|RUNX1_ENST00000437180.1_Missense_Mutation_p.V101M|RUNX1_ENST00000486278.2_Missense_Mutation_p.V77M|RUNX1_ENST00000300305.3_Missense_Mutation_p.V101M|RUNX1_ENST00000325074.5_Missense_Mutation_p.V89M	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	74	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V101fs*37(1)|p.V90_K117del(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GTAGGCAGCACGGAGCAGAGG	0.701			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																			Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	2	Deletion - In frame(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)											59.0	56.0	57.0					21																	36259190		2203	4300	6503	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.220G>A	21.37:g.36259190C>T	ENSP00000340690:p.Val74Met		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	p.V101M	ENST00000344691.4	37	c.301	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.241820	0.95272	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	D;D;D;D;D;D;D;D;D	0.99532	-6.1;-6.1;-6.1;-6.1;-6.1;-6.1;-6.1;-6.1;-6.1	4.72	4.72	0.59763	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.064020	0.64402	D	0.000008	D	0.99548	0.9838	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.994;0.99;0.998;0.915;0.996	D	0.98192	1.0463	10	0.87932	D	0	-18.0183	17.8668	0.88797	0.0:1.0:0.0:0.0	.	101;74;101;89;74	Q2TAM6;Q01196-3;Q01196-8;Q01196-10;Q01196	.;.;.;.;RUNX1_HUMAN	M	74;101;101;89;74;77;74;89;77;88	ENSP00000340690:V74M;ENSP00000300305:V101M;ENSP00000409227:V101M;ENSP00000319459:V89M;ENSP00000382184:V74M;ENSP00000351123:V74M;ENSP00000382182:V89M;ENSP00000438019:V77M;ENSP00000388189:V88M	ENSP00000300305:V101M	V	-	1	0	RUNX1	35181060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.179000	0.77665	2.447000	0.82792	0.563000	0.77884	GTG	RUNX1	-	pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	ENSG00000159216		0.701	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1		0.00	95	0	C			36259190	-1			no_errors	ENST00000300305	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
SEMA3A	10371	genome.wustl.edu	37	7	83640589	83640589	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:83640589G>C	ENST00000265362.4	-	8	1149	c.835C>G	c.(835-837)Ctg>Gtg	p.L279V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L279V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	279	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTATTCACCAGACTTCTGTGC	0.393																																																	0													105.0	98.0	100.0					7																	83640589		2203	4300	6503	SO:0001583	missense	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.835C>G	7.37:g.83640589G>C	ENSP00000265362:p.Leu279Val			Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.L279V	ENST00000265362.4	37	c.835	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789082	0.70337	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.32753	1.44;1.44	6.08	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.89478	3.035	0.58432	D	0.999999	D	0.71674	0.998	D	0.73708	0.981	T	0.66803	-0.5831	10	0.72032	D	0.01	.	11.3435	0.49546	0.1376:0.0:0.8624:0.0	.	279	Q14563	SEM3A_HUMAN	V	279	ENSP00000265362:L279V;ENSP00000415260:L279V	ENSP00000265362:L279V	L	-	1	2	SEMA3A	83478525	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.015000	0.57152	1.594000	0.50039	-0.218000	0.12543	CTG	SEMA3A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075213		0.393	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0.00	94	0	G	NM_006080		83640589	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	missense	8.99	81	8	SNP	1.000	C
SLC35A4	113829	genome.wustl.edu	37	5	139946715	139946715	+	5'UTR	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:139946715A>G	ENST00000514199.1	+	0	1647				APBB3_ENST00000508496.2_5'Flank|SLC35A4_ENST00000508770.1_3'UTR|APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_5'UTR|APBB3_ENST00000356738.2_5'Flank|APBB3_ENST00000358580.5_5'Flank|APBB3_ENST00000354402.5_5'Flank|APBB3_ENST00000511201.2_5'Flank|APBB3_ENST00000412920.3_5'Flank|APBB3_ENST00000357560.4_5'Flank			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4							Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTTGCAATCCCTGCTGC	0.582																																																	0													52.0	56.0	55.0					5																	139946715		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.-40A>G	5.37:g.139946715A>G			A8K013	RNA	SNP	-	NULL	ENST00000514199.1	37	NULL	CCDS4231.1	5	.	.	.	.	.	.	.	.	.	.	A	0.553	-0.848487	0.02651	.	.	ENSG00000176087	ENST00000432254	.	.	.	4.89	0.595	0.17490	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	.	5.5681	0.17182	0.4127:0.1627:0.4245:0.0	.	.	.	.	V	33	.	.	I	+	1	0	SLC35A4	139926899	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-0.340000	0.07821	0.241000	0.21283	0.418000	0.28097	ATC	SLC35A4	-	-	ENSG00000176087		0.582	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC35A4	HGNC	protein_coding	OTTHUMT00000372815.1	-	0.00	33	0	A	NM_080670		139946715	+1	tier1	-	no_errors	ENST00000508770	ensembl	human	known	74_37	rna	35.29	11	6	SNP	0.000	G
SLC39A8	64116	genome.wustl.edu	37	4	103236927	103236927	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:103236927T>C	ENST00000394833.2	-	2	756	c.280A>G	c.(280-282)Agc>Ggc	p.S94G	SLC39A8_ENST00000424970.2_Missense_Mutation_p.S94G|SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Missense_Mutation_p.S94G	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	94					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AATTTGGAGCTGGTTATTTGG	0.378																																																	0													150.0	149.0	150.0					4																	103236927		2203	4300	6503	SO:0001583	missense	0				CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.280A>G	4.37:g.103236927T>C	ENSP00000378310:p.Ser94Gly		B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	pfam_ZIP	p.S94G	ENST00000394833.2	37	c.280	CCDS3656.1	4	.	.	.	.	.	.	.	.	.	.	T	13.30	2.194607	0.38806	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.71461	-0.42;-0.57;-0.57	5.36	5.36	0.76844	.	0.266218	0.40222	N	0.001159	T	0.59595	0.2205	L	0.41236	1.265	0.30399	N	0.780178	B;B;B	0.34241	0.444;0.004;0.001	B;B;B	0.28011	0.085;0.005;0.007	T	0.60606	-0.7230	10	0.25751	T	0.34	-24.4203	14.5362	0.67963	0.0:0.0:0.0:1.0	.	94;94;27	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	G	94	ENSP00000394548:S94G;ENSP00000349174:S94G;ENSP00000378310:S94G	ENSP00000349174:S94G	S	-	1	0	SLC39A8	103455950	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	1.745000	0.38278	2.034000	0.60081	0.482000	0.46254	AGC	SLC39A8	-	NULL	ENSG00000138821		0.378	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A8	HGNC	protein_coding	OTTHUMT00000253798.1	-	0.00	144	0	T	NM_022154		103236927	-1	tier1	-	no_errors	ENST00000356736	ensembl	human	known	74_37	missense	55.43	40	51	SNP	1.000	C
SOX13	9580	genome.wustl.edu	37	1	204093838	204093838	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:204093838G>A	ENST00000367204.1	+	13	1554	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	482					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CGGCTGAGCCGGCAGCACCTG	0.632																																																	0													21.0	26.0	24.0					1																	204093838		2195	4297	6492	SO:0001583	missense	0				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1445G>A	1.37:g.204093838G>A	ENSP00000356172:p.Arg482Gln		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R482Q	ENST00000367204.1	37	c.1445	CCDS44299.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.252528	0.95336	.	.	ENSG00000143842	ENST00000367204	D	0.97772	-4.53	5.53	5.53	0.82687	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	N	0.12831	0.26	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.985;0.998	D	0.99478	1.0947	10	0.87932	D	0	.	19.0635	0.93101	0.0:0.0:1.0:0.0	.	349;349;482	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	Q	482	ENSP00000356172:R482Q	ENSP00000356172:R482Q	R	+	2	0	SOX13	202360461	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.799000	0.75160	2.596000	0.87737	0.491000	0.48974	CGG	SOX13	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000143842		0.632	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2		0.00	99	0	G	NM_005686		204093838	+1			no_errors	ENST00000367204	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A
SP140L	93349	genome.wustl.edu	37	2	231266421	231266421	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:231266421G>C	ENST00000415673.2	+	18	1629	c.1543G>C	c.(1543-1545)Gat>Cat	p.D515H	SP140L_ENST00000396563.4_3'UTR|SP140L_ENST00000243810.6_3'UTR	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	515	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CATGTGGTTGGATAAAATCAA	0.478																																																	0													11.0	10.0	10.0					2																	231266421		1762	3994	5756	SO:0001583	missense	0			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1543G>C	2.37:g.231266421G>C	ENSP00000397911:p.Asp515His		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.D515H	ENST00000415673.2	37	c.1543	CCDS46538.1	2	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432081	0.43122	.	.	ENSG00000185404	ENST00000415673	T	0.31247	1.5	2.92	0.798	0.18660	.	.	.	.	.	T	0.45637	0.1352	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.37244	-0.9714	9	0.72032	D	0.01	.	4.6152	0.12422	0.3932:0.0:0.6068:0.0	.	515	Q9H930-4	.	H	515	ENSP00000397911:D515H	ENSP00000397911:D515H	D	+	1	0	SP140L	230974665	0.006000	0.16342	0.993000	0.49108	0.924000	0.55760	0.150000	0.16263	0.068000	0.16574	0.298000	0.19748	GAT	SP140L	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000185404		0.478	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SP140L	HGNC	protein_coding	OTTHUMT00000374538.1	-	0.00	110	0	G	NM_138402		231266421	+1	tier1	-	no_errors	ENST00000415673	ensembl	human	known	74_37	missense	10.91	98	12	SNP	0.990	C
SPAG1	6674	genome.wustl.edu	37	8	101196196	101196196	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:101196196G>C	ENST00000388798.2	+	6	692	c.501G>C	c.(499-501)gaG>gaC	p.E167D	SPAG1_ENST00000251809.3_Missense_Mutation_p.E167D|SPAG1_ENST00000520643.1_Missense_Mutation_p.E167D|SPAG1_ENST00000520508.1_Missense_Mutation_p.E167D|Y_RNA_ENST00000362797.1_RNA	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	167					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TTGACGTGGAGAAGGAATGTT	0.274																																																	0													53.0	54.0	54.0					8																	101196196		2199	4290	6489	SO:0001583	missense	0			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.501G>C	8.37:g.101196196G>C	ENSP00000373450:p.Glu167Asp		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E167D	ENST00000388798.2	37	c.501	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	G	8.616	0.890195	0.17613	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.66	3.26	0.37387	.	3.184110	0.00447	N	0.000095	T	0.32823	0.0842	N	0.24115	0.695	0.42882	D	0.994175	D;P	0.76494	0.999;0.77	D;P	0.85130	0.997;0.462	T	0.40136	-0.9579	10	0.17832	T	0.49	-33.3339	7.9984	0.30282	0.7692:0.0:0.2308:0.0	.	167;167	Q07617;G3XAM3	SPAG1_HUMAN;.	D	167	ENSP00000427716:E167D;ENSP00000251809:E167D;ENSP00000428070:E167D;ENSP00000373450:E167D	ENSP00000251809:E167D	E	+	3	2	SPAG1	101265372	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.213000	0.42844	0.423000	0.26033	-0.340000	0.08031	GAG	SPAG1	-	NULL	ENSG00000104450		0.274	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	-	0.00	153	0	G	NM_172218		101196196	+1	tier1	-	no_errors	ENST00000251809	ensembl	human	known	74_37	missense	7.91	163	14	SNP	1.000	C
SPATA18	132671	genome.wustl.edu	37	4	52917943	52917943	+	Silent	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:52917943C>T	ENST00000295213.4	+	1	447	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Silent_p.L25L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	25					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGACTTCTGGCTGAAGGAGTA	0.537																																																	0													112.0	106.0	108.0					4																	52917943		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.73C>T	4.37:g.52917943C>T			B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	NULL	p.L25	ENST00000295213.4	37	c.73	CCDS3489.1	4																																																																																			SPATA18	-	NULL	ENSG00000163071		0.537	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA18	HGNC	protein_coding	OTTHUMT00000250597.2	-	0.00	161	0	C	NM_145263		52917943	+1	tier1	-	no_errors	ENST00000295213	ensembl	human	known	74_37	silent	27.50	58	22	SNP	0.132	T
SPATA31D1	389763	genome.wustl.edu	37	9	84607398	84607398	+	Silent	SNP	C	C	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:84607398C>A	ENST00000344803.2	+	4	2060	c.2013C>A	c.(2011-2013)tcC>tcA	p.S671S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	671					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCCGATCTCCATCATTCCTG	0.507																																																	0													108.0	105.0	106.0					9																	84607398		1872	4104	5976	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2013C>A	9.37:g.84607398C>A				Silent	SNP	NULL	p.S671	ENST00000344803.2	37	c.2013	CCDS47986.1	9																																																																																			SPATA31D1	-	NULL	ENSG00000214929		0.507	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0.00	193	0	C	NM_001001670		84607398	+1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	silent	11.51	123	16	SNP	0.006	A
SPEF2	79925	genome.wustl.edu	37	5	35709102	35709102	+	Silent	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:35709102G>T	ENST00000356031.3	+	19	2872	c.2718G>T	c.(2716-2718)ctG>ctT	p.L906L	SPEF2_ENST00000509059.1_Silent_p.L901L|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.L901L	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	906					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCTTCCCTGGCTGAGCTTC	0.423																																																	0													71.0	70.0	70.0					5																	35709102		1875	4106	5981	SO:0001819	synonymous_variant	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2718G>T	5.37:g.35709102G>T			Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.L906	ENST00000356031.3	37	c.2718	CCDS43309.1	5																																																																																			SPEF2	-	NULL	ENSG00000152582		0.423	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0.00	75	0	G	NM_144722		35709102	+1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.000	T
SPO11	23626	genome.wustl.edu	37	20	55904959	55904959	+	Silent	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr20:55904959C>T	ENST00000371263.3	+	1	145	c.36C>T	c.(34-36)ttC>ttT	p.F12F	SPO11_ENST00000371260.4_Silent_p.F12F|SPO11_ENST00000345868.4_Silent_p.F12F	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	12					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AGGCCTCGTTCTTCGACGTTT	0.667								Editing and processing nucleases																																									0													40.0	37.0	38.0					20																	55904959		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.36C>T	20.37:g.55904959C>T			Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A	p.F12	ENST00000371263.3	37	c.36	CCDS13456.1	20																																																																																			SPO11	-	pfam_Meiosis_Spo11,prints_Meiotic_Spo11	ENSG00000054796		0.667	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPO11	HGNC	protein_coding	OTTHUMT00000079836.2	-	0.00	172	0	C	NM_012444		55904959	+1	tier1	-	no_errors	ENST00000371263	ensembl	human	known	74_37	silent	10.44	163	19	SNP	0.964	T
SPTBN4	57731	genome.wustl.edu	37	19	41074109	41074109	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:41074109C>T	ENST00000352632.3	+	31	6963	c.6877C>T	c.(6877-6879)Cgc>Tgc	p.R2293C	SPTBN4_ENST00000392025.1_Missense_Mutation_p.R1036C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R2293C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2293					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGCGGCGGCGCGAGCGGCG	0.701																																																	0													13.0	13.0	13.0					19																	41074109		2190	4278	6468	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6877C>T	19.37:g.41074109C>T	ENSP00000263373:p.Arg2293Cys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R2293C	ENST00000352632.3	37	c.6877	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569726	0.65765	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	D;T	0.83591	-1.74;-0.43	4.69	0.945	0.19543	.	0.000000	0.49916	U	0.000138	T	0.77046	0.4073	N	0.19112	0.55	0.35997	D	0.837093	D;D	0.76494	0.997;0.999	B;P	0.51895	0.446;0.683	T	0.80957	-0.1150	10	0.66056	D	0.02	.	12.2018	0.54331	0.5187:0.4813:0.0:0.0	.	1036;2293	C9JY79;Q9H254	.;SPTN4_HUMAN	C	2293;2293;1036	ENSP00000263373:R2293C;ENSP00000375879:R1036C	ENSP00000263373:R2293C	R	+	1	0	SPTBN4	45765949	0.954000	0.32549	0.884000	0.34674	0.960000	0.62799	0.140000	0.16056	0.342000	0.23796	0.561000	0.74099	CGC	SPTBN4	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000160460		0.701	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0.00	63	0	C			41074109	+1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	8.51	42	4	SNP	0.400	T
STXBP5L	9515	genome.wustl.edu	37	3	121100248	121100248	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:121100248G>A	ENST00000273666.6	+	23	2799	c.2528G>A	c.(2527-2529)cGg>cAg	p.R843Q	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R819Q|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R817Q|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R843Q|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R819Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	843					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCTTTGCACGGAAAAATGAC	0.393																																																	0													182.0	173.0	176.0					3																	121100248		1892	4113	6005	SO:0001583	missense	0			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2528G>A	3.37:g.121100248G>A	ENSP00000273666:p.Arg843Gln		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.R843Q	ENST00000273666.6	37	c.2528	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.316497	0.95655	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13	5.1	5.1	0.69264	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.70267	-0.4919	10	0.62326	D	0.03	-10.9325	18.7084	0.91646	0.0:0.0:1.0:0.0	.	819;843	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	Q	843;819;819;817;843;786	ENSP00000273666:R843Q;ENSP00000420019:R819Q;ENSP00000419627:R819Q;ENSP00000420287:R817Q;ENSP00000420666:R843Q;ENSP00000420167:R786Q	ENSP00000273666:R843Q	R	+	2	0	STXBP5L	122582938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.369000	0.97156	2.660000	0.90430	0.650000	0.86243	CGG	STXBP5L	-	pfam_Lgl_C_dom	ENSG00000145087		0.393	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	-	0.00	121	0	G			121100248	+1	tier1	-	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	30.43	128	56	SNP	1.000	A
SUPT6H	6830	genome.wustl.edu	37	17	27014397	27014397	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:27014397G>T	ENST00000314616.6	+	23	3197	c.2914G>T	c.(2914-2916)Gat>Tat	p.D972Y	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D972Y	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	972	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGTCGGGGTCGATGTCAACCG	0.542																																																	0													105.0	86.0	92.0					17																	27014397		2203	4300	6503	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2914G>T	17.37:g.27014397G>T	ENSP00000319104:p.Asp972Tyr		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D972Y	ENST00000314616.6	37	c.2914	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851118	0.91277	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.59	5.59	0.84812	Tex-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89581	0.6756	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92193	0.5761	9	0.87932	D	0	-21.7999	19.5983	0.95549	0.0:0.0:1.0:0.0	.	972	Q7KZ85	SPT6H_HUMAN	Y	972	.	ENSP00000319104:D972Y	D	+	1	0	SUPT6H	24038524	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	9.216000	0.95154	2.649000	0.89929	0.557000	0.71058	GAT	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.542	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2		0.00	51	0	G	NM_003170		27014397	+1			no_errors	ENST00000314616	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64678706	64678706	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:64678706G>C	ENST00000344113.4	+	104	18963	c.18751G>C	c.(18751-18753)Gag>Cag	p.E6251Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.E6210Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2636Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2885Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6251Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E129Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2636Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.E34Q|SYNE2_ENST00000458046.2_5'Flank	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6251					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAAGAATTTGAGGGCACCAG	0.527																																																	0													136.0	128.0	130.0					14																	64678706		2203	4300	6503	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18751G>C	14.37:g.64678706G>C	ENSP00000341781:p.Glu6251Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E6251Q	ENST00000344113.4	37	c.18751	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362878	0.61403	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.44	5.44	0.79542	.	0.000000	0.49305	D	0.000149	T	0.63379	0.2506	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.989;1.0;0.997;1.0	D;D;D;D;D	0.83275	0.996;0.914;0.967;0.985;0.992	T	0.65903	-0.6055	10	0.87932	D	0	.	19.6223	0.95663	0.0:0.0:1.0:0.0	.	2636;639;6210;6251;6251	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	Q	6251;2636;6251;6210;6216;2885;2636;129;34	ENSP00000350719:E6251Q;ENSP00000349969:E2636Q;ENSP00000341781:E6251Q;ENSP00000452570:E6210Q;ENSP00000450831:E2885Q;ENSP00000378249:E2636Q;ENSP00000451009:E129Q;ENSP00000450605:E34Q	ENSP00000261678:E6216Q	E	+	1	0	SYNE2	63748459	1.000000	0.71417	0.988000	0.46212	0.941000	0.58515	9.568000	0.98166	2.712000	0.92718	0.561000	0.74099	GAG	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0.00	123	0	G	NM_182914		64678706	+1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	7.92	92	8	SNP	1.000	C
TBXA2R	6915	genome.wustl.edu	37	19	3595700	3595700	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:3595700A>G	ENST00000375190.4	-	3	1411	c.1018T>C	c.(1018-1020)Tcc>Ccc	p.S340P	TBXA2R_ENST00000411851.3_Intron|TBXA2R_ENST00000589966.1_Missense_Mutation_p.L210P|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	340					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TGCAGCCCGGAGCGCTGCGTG	0.697																																																	0													11.0	15.0	13.0					19																	3595700		2074	4177	6251	SO:0001583	missense	0				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.1018T>C	19.37:g.3595700A>G	ENSP00000364336:p.Ser340Pro		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.S340P	ENST00000375190.4	37	c.1018	CCDS42467.1	19	.	.	.	.	.	.	.	.	.	.	A	11.87	1.767162	0.31320	.	.	ENSG00000006638	ENST00000375190	T	0.43688	0.94	4.62	-8.59	0.00893	.	.	.	.	.	T	0.20373	0.0490	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19745	-1.0296	8	.	.	.	.	6.5539	0.22450	0.4604:0.3159:0.2238:0.0	.	340	P21731	TA2R_HUMAN	P	340	ENSP00000364336:S340P	.	S	-	1	0	TBXA2R	3546700	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.352000	0.07701	-1.151000	0.02836	0.459000	0.35465	TCC	TBXA2R	-	NULL	ENSG00000006638		0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBXA2R	HGNC	protein_coding	OTTHUMT00000453081.2	-	0.00	50	0	A			3595700	-1	tier1	-	no_errors	ENST00000375190	ensembl	human	known	74_37	missense	47.54	31	29	SNP	0.000	G
TEX261	113419	genome.wustl.edu	37	2	71220847	71220847	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:71220847C>G	ENST00000272438.4	-	2	316	c.129G>C	c.(127-129)agG>agC	p.R43S	AC007040.11_ENST00000606025.1_Missense_Mutation_p.R43S|TEX261_ENST00000466731.1_5'UTR|AC007040.6_ENST00000416229.1_RNA|AC007040.6_ENST00000601923.1_RNA	NM_144582.2	NP_653183.2	Q6UWH6	TX261_HUMAN	testis expressed 261	43						integral component of membrane (GO:0016021)				NS(1)|breast(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						ATTTTATGATCCTGCTGGTGG	0.522																																																	0													213.0	213.0	213.0					2																	71220847		2203	4300	6503	SO:0001583	missense	0			AL832385	CCDS1914.1	2p13.3	2013-09-24	2007-03-13		ENSG00000144043	ENSG00000144043			30712	protein-coding gene	gene with protein product			"""testis expressed sequence 261"""			9464256	Standard	NM_144582		Approved	MGC32043, TEG-261	uc002shn.3	Q6UWH6	OTTHUMG00000129708	ENST00000272438.4:c.129G>C	2.37:g.71220847C>G	ENSP00000272438:p.Arg43Ser		A1A587|D6W5G9|Q8WUJ5	Missense_Mutation	SNP	pfam_Transmembrane_adaptor_Erv26	p.R43S	ENST00000272438.4	37	c.129	CCDS1914.1	2	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679158	0.47886	.	.	ENSG00000144043	ENST00000272438	.	.	.	5.17	0.922	0.19408	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.84773	2.715	0.58432	D	0.999993	D	0.59357	0.985	D	0.69824	0.966	T	0.66352	-0.5945	9	0.48119	T	0.1	-9.5538	2.705	0.05159	0.3181:0.3175:0.0:0.3644	.	43	Q6UWH6	TX261_HUMAN	S	43	.	ENSP00000272438:R43S	R	-	3	2	TEX261	71074355	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.227000	0.17795	0.653000	0.30826	-0.244000	0.11960	AGG	TEX261	-	pfam_Transmembrane_adaptor_Erv26	ENSG00000144043		0.522	TEX261-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX261	HGNC	protein_coding	OTTHUMT00000251916.1	-	0.00	38	0	C	NM_144582		71220847	-1	tier1	-	no_errors	ENST00000272438	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.999	G
TIMM17B	10245	genome.wustl.edu	37	X	48751196	48751196	+	Silent	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:48751196C>T	ENST00000376582.3	-	6	565	c.417G>A	c.(415-417)caG>caA	p.Q139Q	TIMM17B_ENST00000472645.1_5'UTR|TIMM17B_ENST00000396779.3_Silent_p.Q189Q|TIMM17B_ENST00000495490.2_Silent_p.Q159Q|TIMM17B_ENST00000465150.2_Silent_p.Q189Q	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	139					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						TTCGGAACTGCTGGGCTGTGT	0.602																																																	0													51.0	41.0	45.0					X																	48751196		2203	4299	6502	SO:0001819	synonymous_variant	0			AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.417G>A	X.37:g.48751196C>T			A8K2E2|J3KPV3|Q9UJV0	Silent	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.Q189	ENST00000376582.3	37	c.567	CCDS14308.1	X																																																																																			TIMM17B	-	NULL	ENSG00000126768		0.602	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM17B	HGNC	protein_coding	OTTHUMT00000083411.2		0.00	66	0	C	NM_005834		48751196	-1			no_errors	ENST00000396779	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T
TLR4	7099	genome.wustl.edu	37	9	120476760	120476760	+	Missense_Mutation	SNP	T	T	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:120476760T>G	ENST00000355622.6	+	3	2455	c.2354T>G	c.(2353-2355)cTg>cGg	p.L785R	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L745R	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	785	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CAGGTGGAGCTGTACCGCCTT	0.562																																																	0													72.0	71.0	71.0					9																	120476760		2203	4300	6503	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2354T>G	9.37:g.120476760T>G	ENSP00000363089:p.Leu785Arg		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L785R	ENST00000355622.6	37	c.2354	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114913	0.77210	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.09538	2.97;2.97	5.91	5.91	0.95273	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.52532	D	0.000070	T	0.42381	0.1200	M	0.90759	3.145	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	T	0.51434	-0.8706	10	0.87932	D	0	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	785	O00206	TLR4_HUMAN	R	745;785	ENSP00000377997:L745R;ENSP00000363089:L785R	ENSP00000363089:L785R	L	+	2	0	TLR4	119516581	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.848000	0.69458	2.261000	0.74972	0.533000	0.62120	CTG	TLR4	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000136869		0.562	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	-	0.00	34	0	T	NM_138554		120476760	+1	tier1	-	no_errors	ENST00000355622	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	G
TMEM229A	730130	genome.wustl.edu	37	7	123671981	123671981	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:123671981G>T	ENST00000455783.1	-	1	1542	c.1077C>A	c.(1075-1077)ttC>ttA	p.F359L	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	359						host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)	6						ACACACTAAGGAATATCCAGC	0.463																																																	0													42.0	40.0	41.0					7																	123671981		692	1591	2283	SO:0001583	missense	0			BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762	ENST00000455783.1:c.1077C>A	7.37:g.123671981G>T	ENSP00000395244:p.Phe359Leu		A4D0X6	Missense_Mutation	SNP	NULL	p.F359L	ENST00000455783.1	37	c.1077	CCDS47694.1	7	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703300	0.48412	.	.	ENSG00000234224	ENST00000455783	.	.	.	5.55	2.27	0.28462	.	.	.	.	.	T	0.31918	0.0812	N	0.21097	0.63	0.32104	N	0.59016	B	0.31931	0.347	B	0.34652	0.187	T	0.37009	-0.9724	8	0.31617	T	0.26	-13.1712	7.6357	0.28266	0.3134:0.0:0.6866:0.0	.	359	B2RXF0	T229A_HUMAN	L	359	.	ENSP00000395244:F359L	F	-	3	2	TMEM229A	123459217	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.356000	0.34079	0.679000	0.31345	0.655000	0.94253	TTC	TMEM229A	-	NULL	ENSG00000234224		0.463	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM229A	HGNC	protein_coding	OTTHUMT00000336960.3	-	0.00	100	0	G	NM_001136002		123671981	-1	tier1	-	no_errors	ENST00000455783	ensembl	human	known	74_37	missense	39.77	53	35	SNP	1.000	T
TMEM232	642987	genome.wustl.edu	37	5	109904177	109904177	+	Silent	SNP	G	G	T	rs148652027		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:109904177G>T	ENST00000455884.2	-	11	1476	c.1426C>A	c.(1426-1428)Cga>Aga	p.R476R	TMEM232_ENST00000515518.2_5'UTR|TMEM232_ENST00000429839.2_Silent_p.R476R			C9JQI7	TM232_HUMAN	transmembrane protein 232	476						integral component of membrane (GO:0016021)				breast(1)|kidney(2)	3						TTTTGGATTCGTACATCTTCC	0.373																																																	0													606.0	468.0	510.0					5																	109904177		692	1591	2283	SO:0001819	synonymous_variant	0			AK125070	CCDS47253.1, CCDS47253.2	5q22.1	2014-02-12	2009-10-02		ENSG00000186952	ENSG00000186952			37270	protein-coding gene	gene with protein product							Standard	NM_001039763		Approved	FLJ43080	uc011cvh.2	C9JQI7	OTTHUMG00000163297	ENST00000455884.2:c.1426C>A	5.37:g.109904177G>T			B4DKF4	Silent	SNP	NULL	p.R476	ENST00000455884.2	37	c.1426	CCDS47253.2	5																																																																																			TMEM232	-	NULL	ENSG00000186952		0.373	TMEM232-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TMEM232	HGNC	protein_coding	OTTHUMT00000372488.2		0.00	69	0	G	NM_001039763		109904177	-1			no_errors	ENST00000429839	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.005	T
TMEM47	83604	genome.wustl.edu	37	X	34648476	34648476	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:34648476G>A	ENST00000275954.3	-	3	758	c.500C>T	c.(499-501)gCc>gTc	p.A167V		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	167						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATAAAGGATGGCACCCCCAAA	0.418																																																	0													167.0	148.0	154.0					X																	34648476		2202	4300	6502	SO:0001583	missense	0			AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"""transmembrane 4 superfamily member 10"""	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.500C>T	X.37:g.34648476G>A	ENSP00000275954:p.Ala167Val		Q5JR44	Missense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.A167V	ENST00000275954.3	37	c.500	CCDS14235.1	X	.	.	.	.	.	.	.	.	.	.	G	16.31	3.085896	0.55861	.	.	ENSG00000147027	ENST00000275954	T	0.69806	-0.43	5.38	5.38	0.77491	.	0.046438	0.85682	D	0.000000	T	0.73521	0.3597	M	0.62723	1.935	0.80722	D	1	P	0.46064	0.872	P	0.51101	0.659	T	0.72858	-0.4165	10	0.36615	T	0.2	-30.4197	17.0296	0.86457	0.0:0.0:1.0:0.0	.	167	Q9BQJ4	TMM47_HUMAN	V	167	ENSP00000275954:A167V	ENSP00000275954:A167V	A	-	2	0	TMEM47	34558397	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.569000	0.53827	2.231000	0.72958	0.415000	0.27848	GCC	TMEM47	-	NULL	ENSG00000147027		0.418	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM47	HGNC	protein_coding	OTTHUMT00000056209.1	-	0.00	73	0	G	NM_031442		34648476	-1	tier1	-	no_errors	ENST00000275954	ensembl	human	known	74_37	missense	65.91	15	29	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:7578556T>C	ENST00000269305.4	-	5	565		c.e5-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	AGGGGAGTACTGTAGGAAGAG	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"""	46	Unknown(34)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(19)|breast(7)|central_nervous_system(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)											41.0	42.0	41.0					17																	7578556		2203	4300	6503	SO:0001630	splice_region_variant	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.376-2A>G	17.37:g.7578556T>C			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	Splice_Site	SNP	-	e4-2	ENST00000269305.4	37	c.376-2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336894	0.60963	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6026	0.45375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519281	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	6.214000	0.72200	2.078000	0.62432	0.533000	0.62120	.	TP53	-	-	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	28	0	T	NM_000546	Intron	7578556	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	55.56	4	5	SNP	1.000	C
TRAPPC3	27095	genome.wustl.edu	37	1	36602741	36602741	+	3'UTR	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:36602741G>A	ENST00000373166.3	-	0	696				TRAPPC3_ENST00000462715.1_5'UTR|TRAPPC3_ENST00000373163.1_3'UTR|TRAPPC3_ENST00000373162.1_3'UTR	NM_001270894.1|NM_014408.4	NP_001257823.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3						ER to Golgi vesicle-mediated transport (GO:0006888)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|TRAPP complex (GO:0030008)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				AGGGCAGAGGGAGCACAGAGG	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF041432	CCDS404.1, CCDS59194.1, CCDS72757.1, CCDS72758.1	1p34.2	2011-10-10			ENSG00000054116	ENSG00000054116		"""Trafficking protein particle complex"""	19942	protein-coding gene	gene with protein product		610955				8619474	Standard	NM_014408		Approved	BET3	uc031pls.1	O43617	OTTHUMG00000007664	ENST00000373166.3:c.*63C>T	1.37:g.36602741G>A			A6NDN0|B2RDN2|D3DPS2	RNA	SNP	-	NULL	ENST00000373166.3	37	NULL	CCDS404.1	1																																																																																			TRAPPC3	-	-	ENSG00000054116		0.463	TRAPPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC3	HGNC	protein_coding	OTTHUMT00000020384.1	-	0.00	52	0	G	NM_014408		36602741	-1	tier1	-	no_errors	ENST00000462715	ensembl	human	known	74_37	rna	14.29	42	7	SNP	0.001	A
TREML2	79865	genome.wustl.edu	37	6	41168696	41168696	+	Silent	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:41168696G>A	ENST00000483722.1	-	1	236	c.51C>T	c.(49-51)gtC>gtT	p.V17V		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	17					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTCACCTGAGACGCAACCCT	0.607																																																	0													23.0	24.0	24.0					6																	41168696		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.51C>T	6.37:g.41168696G>A			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like_dom	p.V17	ENST00000483722.1	37	c.51	CCDS4853.2	6																																																																																			TREML2	-	NULL	ENSG00000112195		0.607	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML2	HGNC	protein_coding	OTTHUMT00000043756.3	-	0.00	95	0	G	NM_024807		41168696	-1	tier1	-	no_errors	ENST00000483722	ensembl	human	known	74_37	silent	14.71	58	10	SNP	0.691	A
TRIM9	114088	genome.wustl.edu	37	14	51561511	51561511	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:51561511G>T	ENST00000298355.3	-	1	1268	c.147C>A	c.(145-147)agC>agA	p.S49R	TRIM9_ENST00000338969.5_Missense_Mutation_p.S49R|TRIM9_ENST00000360392.4_Missense_Mutation_p.S49R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	49					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CGGCCCGATGGCTCTGGGGGG	0.622																																																	0													18.0	22.0	21.0					14																	51561511		2202	4300	6502	SO:0001583	missense	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.147C>A	14.37:g.51561511G>T	ENSP00000298355:p.Ser49Arg		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.S49R	ENST00000298355.3	37	c.147	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335261	0.24253	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.27890	1.64;1.64;1.64	5.53	3.69	0.42338	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	L	0.29908	0.895	0.52099	D	0.999946	P;P;B	0.45715	0.851;0.865;0.06	B;B;B	0.40901	0.343;0.343;0.029	T	0.00857	-1.1538	10	0.28530	T	0.3	.	12.9578	0.58441	0.1506:0.0:0.8494:0.0	.	49;49;49	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	R	49	ENSP00000298355:S49R;ENSP00000342970:S49R;ENSP00000353561:S49R	ENSP00000298355:S49R	S	-	3	2	TRIM9	50631261	1.000000	0.71417	0.993000	0.49108	0.808000	0.45660	4.134000	0.57990	0.319000	0.23209	-1.134000	0.01955	AGC	TRIM9	-	smart_Znf_RING	ENSG00000100505		0.622	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	-	0.00	186	0	G	NM_015163		51561511	-1	tier1	-	no_errors	ENST00000338969	ensembl	human	known	74_37	missense	61.73	61	100	SNP	1.000	T
TTBK1	84630	genome.wustl.edu	37	6	43230870	43230870	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:43230870G>C	ENST00000259750.4	+	13	1851	c.1768G>C	c.(1768-1770)Gag>Cag	p.E590Q	TTBK1_ENST00000304139.5_Missense_Mutation_p.E539Q	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	590					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCTGGGGGCAGAGCCCACCGT	0.746																																																	0													8.0	10.0	9.0					6																	43230870		2120	4088	6208	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1768G>C	6.37:g.43230870G>C	ENSP00000259750:p.Glu590Gln		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	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.E590Q	ENST00000259750.4	37	c.1768	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903378	0.33628	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.28069	1.63	5.48	5.48	0.80851	.	0.287181	0.31577	N	0.007413	T	0.13200	0.0320	L	0.29908	0.895	0.20074	N	0.999932	P;P	0.49185	0.701;0.92	B;B	0.41374	0.179;0.355	T	0.06499	-1.0823	10	0.34782	T	0.22	.	16.2758	0.82642	0.0:0.0:1.0:0.0	.	113;590	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	Q	539;590;539	ENSP00000259750:E590Q	ENSP00000259750:E590Q	E	+	1	0	TTBK1	43338848	1.000000	0.71417	0.092000	0.20876	0.329000	0.28539	8.546000	0.90661	2.584000	0.87258	0.561000	0.74099	GAG	TTBK1	-	NULL	ENSG00000146216		0.746	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	-	0.00	19	0	G			43230870	+1	tier1	-	no_errors	ENST00000259750	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.324	C
UBR4	23352	genome.wustl.edu	37	1	19478158	19478158	+	Missense_Mutation	SNP	C	C	T	rs55848569		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:19478158C>T	ENST00000375254.3	-	48	7219	c.7192G>A	c.(7192-7194)Gat>Aat	p.D2398N	UBR4_ENST00000375267.2_Missense_Mutation_p.D2398N|UBR4_ENST00000375217.2_Missense_Mutation_p.D2398N|UBR4_ENST00000375226.2_Missense_Mutation_p.D2398N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2398					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGCTTCTTATCAGCCTGCAGG	0.537																																																	0													106.0	103.0	104.0					1																	19478158		2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7192G>A	1.37:g.19478158C>T	ENSP00000364403:p.Asp2398Asn		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.D2398N	ENST00000375254.3	37	c.7192	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.381290	0.95945	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040;ENST00000419533	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.76575	0.988;0.971	T	0.18871	-1.0323	10	0.52906	T	0.07	.	18.7955	0.91993	0.0:1.0:0.0:0.0	.	2399;2398	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	N	2398;2398;2398;2398;13;1108;1615	ENSP00000364403:D2398N;ENSP00000364416:D2398N;ENSP00000364365:D2398N;ENSP00000364374:D2398N;ENSP00000404897:D1108N	ENSP00000364365:D2398N	D	-	1	0	UBR4	19350745	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.110000	0.77069	2.686000	0.91538	0.561000	0.74099	GAT	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0.00	46	0	C	NM_020765		19478158	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
UGGT1	56886	genome.wustl.edu	37	2	128900707	128900707	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:128900707G>A	ENST00000259253.6	+	17	1806	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	UGGT1_ENST00000375990.3_Missense_Mutation_p.E563K	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	587					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGTGAAAGTTGAACATGTGGT	0.348																																																	0													151.0	145.0	147.0					2																	128900707		2203	4300	6503	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1759G>A	2.37:g.128900707G>A	ENSP00000259253:p.Glu587Lys		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.E587K	ENST00000259253.6	37	c.1759	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321650	0.41096	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.35421	1.31;1.31	5.23	5.23	0.72850	.	0.271330	0.42053	D	0.000774	T	0.24314	0.0589	N	0.21617	0.685	0.53688	D	0.99997	B;B	0.11235	0.001;0.004	B;B	0.09377	0.003;0.004	T	0.05566	-1.0877	10	0.22109	T	0.4	.	12.5121	0.56011	0.077:0.0:0.923:0.0	.	563;587	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	K	563;587	ENSP00000365158:E563K;ENSP00000259253:E587K	ENSP00000259253:E587K	E	+	1	0	UGGT1	128617177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.256000	0.65468	2.608000	0.88229	0.650000	0.86243	GAA	UGGT1	-	NULL	ENSG00000136731		0.348	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0.00	139	0	G	NM_020120		128900707	+1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	22.70	109	32	SNP	1.000	A
UNC45A	55898	genome.wustl.edu	37	15	91489925	91489925	+	Silent	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:91489925C>T	ENST00000418476.2	+	10	1321	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	UNC45A_ENST00000394275.2_Silent_p.D412D	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	427					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCCCATGTGACGCTGGCAACC	0.657																																																	0													56.0	50.0	52.0					15																	91489925		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1281C>T	15.37:g.91489925C>T			A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D427	ENST00000418476.2	37	c.1281	CCDS10367.1	15																																																																																			UNC45A	-	pfam_UNC-45/Ring3,superfamily_ARM-type_fold	ENSG00000140553		0.657	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	-	0.00	34	0	C	NM_018671		91489925	+1	tier1	-	no_errors	ENST00000418476	ensembl	human	known	74_37	silent	43.75	18	14	SNP	0.078	T
USH2A	7399	genome.wustl.edu	37	1	216595333	216595333	+	Silent	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:216595333G>A	ENST00000307340.3	-	2	732	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	USH2A_ENST00000366942.3_Silent_p.L116L|USH2A_ENST00000366943.2_Silent_p.L116L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	116					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTAGGATGCAGATCATTCTTG	0.443										HNSCC(13;0.011)																																							0													120.0	111.0	114.0					1																	216595333		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.346C>T	1.37:g.216595333G>A			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L116	ENST00000307340.3	37	c.346	CCDS31025.1	1																																																																																			USH2A	-	NULL	ENSG00000042781		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	71	0	G	NM_007123		216595333	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	19.74	61	15	SNP	0.139	A
UTP3	57050	genome.wustl.edu	37	4	71554831	71554832	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:71554831_71554832GA>AT	ENST00000254803.2	+	1	636_637	c.437_438GA>AT	c.(436-438)cGA>cAT	p.R146H		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	146	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TCCAAGTCCCGAGGCCGGCAGA	0.564																																																	0																																										SO:0001583	missense	0			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	Exception_encountered	4.37:g.71554831_71554832delinsAT	ENSP00000254803:p.Arg146His		Q6FI82	Missense_Mutation|Silent	SNP	pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D	p.R146Q|p.R146	ENST00000254803.2	37	c.437|c.438	CCDS3546.1	4																																																																																			UTP3	-	NULL	ENSG00000132467		0.564	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	HGNC	protein_coding	OTTHUMT00000252163.2	-	0.00	44|43	0	G|A	NM_020368		71554831|71554832	+1	tier1	-	no_errors	ENST00000254803	ensembl	human	known	74_37	missense|silent	23.21|24.56	43	13|14	SNP	0.600|0.480	A|T
UTS2B	257313	genome.wustl.edu	37	3	190999931	190999931	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:190999931C>G	ENST00000340524.5	-	5	834	c.48G>C	c.(46-48)ttG>ttC	p.L16F	UTS2B_ENST00000427544.2_Missense_Mutation_p.L16F	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	16					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											ACACGGATAACAAAGTTAGGA	0.388																																																	0													96.0	88.0	91.0					3																	190999931		2203	4300	6503	SO:0001583	missense	0			AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"""Endogenous ligands"""	30894	protein-coding gene	gene with protein product	"""prepro-URP"""		"""urotensin 2 domain containing"""	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.48G>C	3.37:g.190999931C>G	ENSP00000340526:p.Leu16Phe		B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	NULL	p.L16F	ENST00000340524.5	37	c.48	CCDS3300.1	3	.	.	.	.	.	.	.	.	.	.	C	1.978	-0.434841	0.04669	.	.	ENSG00000188958	ENST00000340524;ENST00000427544;ENST00000432514	T;T;T	0.73681	0.4;0.4;-0.77	4.84	-0.247	0.13019	.	0.411138	0.19727	N	0.107456	T	0.59004	0.2162	L	0.52364	1.645	0.09310	N	1	B	0.21225	0.053	B	0.20184	0.028	T	0.46470	-0.9189	10	0.39692	T	0.17	-0.104	0.8032	0.01079	0.1681:0.3878:0.1635:0.2805	.	16	Q765I0	UTS2B_HUMAN	F	16	ENSP00000340526:L16F;ENSP00000398761:L16F;ENSP00000401028:L16F	ENSP00000340526:L16F	L	-	3	2	UTS2D	192482625	0.228000	0.23718	0.025000	0.17156	0.110000	0.19582	-0.093000	0.11111	0.043000	0.15746	0.655000	0.94253	TTG	UTS2B	-	NULL	ENSG00000188958		0.388	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2B	HGNC	protein_coding	OTTHUMT00000343353.1	-	0.00	100	0	C	NM_198152		190999931	-1	tier1	-	no_errors	ENST00000446788	ensembl	human	known	74_37	missense	5.68	166	10	SNP	0.011	G
VSIG10	54621	genome.wustl.edu	37	12	118506398	118506398	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:118506398G>T	ENST00000359236.5	-	8	1627	c.1351C>A	c.(1351-1353)Caa>Aaa	p.Q451K		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	451						integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCCATGTTTTGTCCCCTAATT	0.453																																																	0													54.0	46.0	49.0					12																	118506398		1930	4127	6057	SO:0001583	missense	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1351C>A	12.37:g.118506398G>T	ENSP00000352172:p.Gln451Lys		Q9NWQ7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Q451K	ENST00000359236.5	37	c.1351	CCDS44992.1	12	.	.	.	.	.	.	.	.	.	.	G	10.99	1.505932	0.26949	.	.	ENSG00000176834	ENST00000359236	T	0.53206	0.63	4.88	3.96	0.45880	.	0.000000	0.38326	N	0.001738	T	0.40886	0.1135	M	0.63428	1.95	0.26480	N	0.975128	P	0.38922	0.651	B	0.32677	0.15	T	0.32929	-0.9888	10	0.37606	T	0.19	3.748	11.2662	0.49112	0.0:0.1852:0.8148:0.0	.	451	Q8N0Z9	VSI10_HUMAN	K	451	ENSP00000352172:Q451K	ENSP00000352172:Q451K	Q	-	1	0	VSIG10	116990781	1.000000	0.71417	0.995000	0.50966	0.765000	0.43378	3.518000	0.53451	1.137000	0.42214	0.563000	0.77884	CAA	VSIG10	-	NULL	ENSG00000176834		0.453	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2		0.00	37	0	G	NM_019086		118506398	-1			no_errors	ENST00000359236	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.998	T
WDR13	64743	genome.wustl.edu	37	X	48455969	48455970	+	5'UTR	INS	-	-	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:48455969_48455970insG	ENST00000218056.5	+	0	90_91				WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_5'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13							cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						AGGGCCGCTCCGGGGGGCCTCA	0.644																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.-415->G	X.37:g.48455975_48455975dupG			Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	RNA	INS	-	NULL	ENST00000218056.5	37	NULL	CCDS14302.1	X																																																																																			WDR13	-	-	ENSG00000101940		0.644	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2		0.00	35	0	-			48455970	+1	tier1		no_errors	ENST00000471334	ensembl	human	known	74_37	rna	9.52	19	2	INS	1.000:1.000	G
WDSUB1	151525	genome.wustl.edu	37	2	160114319	160114320	+	Frame_Shift_Ins	INS	-	-	T	rs140416254	byFrequency	TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:160114319_160114320insT	ENST00000409990.3	-	8	1157_1158	c.901_902insA	c.(901-903)atgfs	p.M301fs	WDSUB1_ENST00000409124.1_Frame_Shift_Ins_p.M301fs|WDSUB1_ENST00000358147.4_Intron|WDSUB1_ENST00000392796.3_Frame_Shift_Ins_p.M301fs|WDSUB1_ENST00000359774.4_Frame_Shift_Ins_p.M301fs	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	301							ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TGTTTTGTCCATTGAACCAGTA	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.902dupA	2.37:g.160114321_160114321dupT	ENSP00000387078:p.Met301fs		Q53TI9|Q8N6N8	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_Ubox_domain,pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_WD40_repeat_dom,superfamily_SAM/pointed,smart_WD40_repeat,smart_SAM,smart_Ubox_domain,pfscan_SAM,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.M301fs	ENST00000409990.3	37	c.902_901	CCDS2208.1	2																																																																																			WDSUB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000196151		0.361	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WDSUB1	HGNC	protein_coding	OTTHUMT00000333339.1		0.00	62	0	-	NM_152528		160114320	-1	tier1		no_errors	ENST00000359774	ensembl	human	known	74_37	frame_shift_ins	55.10	22	27	INS	1.000:1.000	T
WHSC1L1	54904	genome.wustl.edu	37	8	38133346	38133346	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:38133346G>T	ENST00000317025.8	-	24	4644	c.4127C>A	c.(4126-4128)tCc>tAc	p.S1376Y	RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.S1327Y|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.S1365Y	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1376					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTCACAGAAGGAAACAGCTGC	0.527			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													54.0	54.0	54.0					8																	38133346		2028	4206	6234	SO:0001583	missense	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.4127C>A	8.37:g.38133346G>T	ENSP00000313983:p.Ser1376Tyr		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S1376Y	ENST00000317025.8	37	c.4127	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997217	0.93167	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.95001	-3.58;-3.58;-3.58	5.93	5.93	0.95920	Zinc finger, RING/FYVE/PHD-type (1);	0.142186	0.32357	U	0.006219	D	0.94128	0.8117	N	0.19112	0.55	0.80722	D	1	P;P;P	0.41188	0.623;0.741;0.623	P;P;P	0.53062	0.525;0.717;0.525	D	0.94504	0.7712	10	0.87932	D	0	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	1365;1327;1376	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	Y	1327;1376;1313;1365	ENSP00000393284:S1327Y;ENSP00000313983:S1376Y;ENSP00000434730:S1365Y	ENSP00000313983:S1376Y	S	-	2	0	WHSC1L1	38252503	1.000000	0.71417	0.919000	0.36401	0.884000	0.51177	7.823000	0.86660	2.818000	0.97014	0.591000	0.81541	TCC	WHSC1L1	-	NULL	ENSG00000147548		0.527	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	-	0.00	66	0	G	NM_023034		38133346	-1	tier1	-	no_errors	ENST00000317025	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.996	T
WIPI1	55062	genome.wustl.edu	37	17	66422248	66422248	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:66422248C>T	ENST00000262139.5	-	12	1260	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.V339M|MIR635_ENST00000384830.1_RNA|RP11-120M18.2_ENST00000592030.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	421					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TCAAGACACACTGGTCCCGTC	0.502																																																	0													121.0	94.0	103.0					17																	66422248		2203	4300	6503	SO:0001583	missense	0				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1261G>A	17.37:g.66422248C>T	ENSP00000262139:p.Val421Met		Q8IXM5|Q9NWF8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.V421M	ENST00000262139.5	37	c.1261	CCDS11677.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394605	0.83011	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.58358	0.75;0.34	5.79	5.79	0.91817	.	0.250252	0.39544	N	0.001339	T	0.56949	0.2020	L	0.50333	1.59	0.53005	D	0.999961	P	0.48640	0.913	P	0.50231	0.635	T	0.57341	-0.7828	10	0.52906	T	0.07	-22.6531	13.2601	0.60101	0.0:0.9279:0.0:0.0721	.	421	Q5MNZ9	WIPI1_HUMAN	M	421;339	ENSP00000262139:V421M;ENSP00000437345:V339M	ENSP00000262139:V421M	V	-	1	0	WIPI1	63933843	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.944000	0.56629	2.733000	0.93635	0.655000	0.94253	GTG	WIPI1	-	NULL	ENSG00000070540		0.502	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPI1	HGNC	protein_coding	OTTHUMT00000448739.1	-	0.00	50	0	C	NM_017983		66422248	-1	tier1	-	no_errors	ENST00000262139	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
YWHAG	7532	genome.wustl.edu	37	7	75959019	75959019	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:75959019C>T	ENST00000307630.3	-	2	841	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	207					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						GTGTCAAGCTCGGCGATGGCG	0.597																																																	0													150.0	126.0	134.0					7																	75959019		2203	4300	6503	SO:0001583	missense	0			AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"""14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"""	605356	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"""			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.619G>A	7.37:g.75959019C>T	ENSP00000306330:p.Glu207Lys		O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.E207K	ENST00000307630.3	37	c.619	CCDS5584.1	7	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979344	0.74360	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	T	0.47528	0.84	5.56	5.56	0.83823	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	M	0.74647	2.275	0.80722	D	1	D	0.55800	0.973	B	0.42771	0.397	T	0.63125	-0.6707	10	0.87932	D	0	-0.9839	18.7066	0.91641	0.0:1.0:0.0:0.0	.	207	P61981	1433G_HUMAN	K	207;185;167	ENSP00000306330:E207K	ENSP00000306330:E207K	E	-	1	0	YWHAG	75796955	1.000000	0.71417	0.996000	0.52242	0.802000	0.45316	7.616000	0.83018	2.899000	0.99337	0.655000	0.94253	GAG	YWHAG	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000170027		0.597	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAG	HGNC	protein_coding	OTTHUMT00000253002.1	-	0.00	40	0	C	NM_012479		75959019	-1	tier1	-	no_errors	ENST00000307630	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T
ZC3H13	23091	genome.wustl.edu	37	13	46549821	46549821	+	Silent	SNP	G	G	T			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr13:46549821G>T	ENST00000242848.4	-	12	2413	c.2065C>A	c.(2065-2067)Cgg>Agg	p.R689R	ZC3H13_ENST00000282007.3_Silent_p.R689R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	689	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tctctctcccgctccctgtct	0.498																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													212.0	123.0	153.0					13																	46549821		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2065C>A	13.37:g.46549821G>T			A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R689	ENST00000242848.4	37	c.2065		13																																																																																			ZC3H13	-	NULL	ENSG00000123200		0.498	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1		0.00	54	0	G	NM_015070		46549821	-1			no_errors	ENST00000242848	ensembl	human	known	74_37	silent	10.00	45	5	SNP	0.999	T
ZEB1	6935	genome.wustl.edu	37	10	31661980	31661980	+	Intron	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:31661980G>A	ENST00000320985.10	+	1	168				ZEB1_ENST00000361642.5_Intron|ZEB1_ENST00000542815.3_Intron|ZEB1_ENST00000559858.1_Intron|ZEB1_ENST00000446923.2_Intron|ZEB1_ENST00000560721.2_Intron|RP11-192P3.5_ENST00000607134.1_RNA			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1						cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCAATTGGCCGAAAACTCCCA	0.373																																					Ovarian(40;423 959 14296 36701 49589)												0																																										SO:0001627	intron_variant	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.58+53759G>A	10.37:g.31661980G>A			B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	NULL	p.R31Q	ENST00000320985.10	37	c.92	CCDS7169.1	10																																																																																			ZEB1	-	NULL	ENSG00000148516		0.373	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	-	0.00	34	0	G	NM_030751		31661980	+1	tier1	-	no_errors	ENST00000437844	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	A
ZFYVE9	9372	genome.wustl.edu	37	1	52798576	52798576	+	Missense_Mutation	SNP	A	A	C	rs200871651		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:52798576A>C	ENST00000371591.1	+	13	3706	c.3575A>C	c.(3574-3576)aAt>aCt	p.N1192T	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N1133T|ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.N1192T	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1192					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGTATTCACAATCAGCCCAGA	0.438																																																	0													105.0	94.0	98.0					1																	52798576		2203	4300	6503	SO:0001583	missense	0			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3575A>C	1.37:g.52798576A>C	ENSP00000360647:p.Asn1192Thr		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.N1192T	ENST00000371591.1	37	c.3575	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.111114	0.37242	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.40225	1.11;1.04;1.04	4.49	3.36	0.38483	Domain of unknown function DUF3480 (1);	0.219472	0.46145	D	0.000309	T	0.30696	0.0773	L	0.35723	1.085	0.35019	D	0.757631	P;B	0.35575	0.51;0.087	B;B	0.32864	0.154;0.102	T	0.43393	-0.9394	10	0.59425	D	0.04	.	9.9164	0.41436	0.919:0.0:0.081:0.0	.	1133;1192	O95405-2;O95405	.;ZFYV9_HUMAN	T	1133;1192;1192	ENSP00000349737:N1133T;ENSP00000287727:N1192T;ENSP00000360647:N1192T	ENSP00000287727:N1192T	N	+	2	0	ZFYVE9	52571164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	0.774000	0.33427	0.455000	0.32223	AAT	ZFYVE9	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin	ENSG00000157077		0.438	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	-	0.00	60	0	A	NM_007324		52798576	+1	tier1	-	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	17.50	33	7	SNP	1.000	C
ZNF260	339324	genome.wustl.edu	37	19	37005062	37005062	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:37005062T>C	ENST00000523638.1	-	3	2200	c.1079A>G	c.(1078-1080)tAt>tGt	p.Y360C	ZNF260_ENST00000588993.1_Missense_Mutation_p.Y360C|ZNF260_ENST00000592282.1_Missense_Mutation_p.Y360C|ZNF260_ENST00000593142.1_Missense_Mutation_p.Y360C	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	360					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					ATTACAACCATAGGGTTTCTC	0.428																																																	0													114.0	104.0	108.0					19																	37005062		2203	4300	6503	SO:0001583	missense	0			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.1079A>G	19.37:g.37005062T>C	ENSP00000429803:p.Tyr360Cys		Q0VF43	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y360C	ENST00000523638.1	37	c.1079	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	T	15.90	2.969960	0.53614	.	.	ENSG00000254004	ENST00000523638	T	0.69306	-0.39	4.17	4.17	0.49024	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75347	0.3837	L	0.56396	1.775	0.36098	D	0.843922	D	0.89917	1.0	D	0.74023	0.982	T	0.80708	-0.1262	9	0.87932	D	0	.	8.2495	0.31708	0.1778:0.0:0.0:0.8222	.	360	Q3ZCT1	ZN260_HUMAN	C	360	ENSP00000429803:Y360C	ENSP00000429803:Y360C	Y	-	2	0	ZNF260	41696902	0.000000	0.05858	0.994000	0.49952	0.998000	0.95712	-0.131000	0.10482	1.853000	0.53794	0.459000	0.35465	TAT	ZNF260	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000254004		0.428	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	-	0.00	73	0	T	NM_001012756		37005062	-1	tier1	-	no_errors	ENST00000523638	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.996	C
ZNF135	7694	genome.wustl.edu	37	19	58578438	58578438	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:58578438A>G	ENST00000313434.5	+	5	687	c.586A>G	c.(586-588)Agg>Ggg	p.R196G	ZNF135_ENST00000401053.4_Missense_Mutation_p.R220G|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000511556.1_Missense_Mutation_p.R208G|ZNF135_ENST00000439855.2_Missense_Mutation_p.R196G|ZNF135_ENST00000359978.6_Missense_Mutation_p.R208G|ZNF135_ENST00000506786.1_Missense_Mutation_p.R154G	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	196					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACGTGGAAAAAGGGAGAAGCC	0.458																																																	0													65.0	64.0	65.0					19																	58578438		2203	4300	6503	SO:0001583	missense	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.586A>G	19.37:g.58578438A>G	ENSP00000321406:p.Arg196Gly		B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	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.R220G	ENST00000313434.5	37	c.658		19	.	.	.	.	.	.	.	.	.	.	A	8.387	0.838946	0.16891	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.06294	3.42;3.49;3.43;3.43;3.43;3.32	2.94	2.94	0.34122	.	.	.	.	.	T	0.05960	0.0155	L	0.42245	1.32	0.09310	N	0.999991	B;B;B	0.23185	0.004;0.081;0.01	B;B;B	0.18263	0.003;0.021;0.004	T	0.28038	-1.0056	9	0.44086	T	0.13	.	4.798	0.13282	0.8599:0.0:0.1401:0.0	.	208;196;208	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	G	208;220;208;196;196;208;154	ENSP00000441410:R220G;ENSP00000369437:R208G;ENSP00000444828:R196G;ENSP00000321406:R196G;ENSP00000422074:R208G;ENSP00000427691:R154G	ENSP00000321406:R196G	R	+	1	2	ZNF135	63270250	.	.	0.003000	0.11579	0.052000	0.14988	.	.	1.609000	0.50190	0.374000	0.22700	AGG	ZNF135	-	NULL	ENSG00000176293		0.458	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2		0.00	71	0	A	NM_003436		58578438	+1			no_errors	ENST00000401053	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.372	G
ZNF343	79175	genome.wustl.edu	37	20	2465211	2465211	+	Silent	SNP	G	G	A			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr20:2465211G>A	ENST00000278772.4	-	6	883	c.396C>T	c.(394-396)ttC>ttT	p.F132F	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	132	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ATAAGCCCAGGAAGATCTGAA	0.483																																																	0													86.0	86.0	86.0					20																	2465211		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.396C>T	20.37:g.2465211G>A			Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F132	ENST00000278772.4	37	c.396	CCDS13028.1	20																																																																																			ZNF343	-	pfscan_Krueppel-associated_box	ENSG00000088876		0.483	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	HGNC	protein_coding	OTTHUMT00000077617.1		0.00	48	0	G	NM_024325		2465211	-1			no_errors	ENST00000278772	ensembl	human	known	74_37	silent	8.77	52	5	SNP	0.049	A
ZNF627	199692	genome.wustl.edu	37	19	11728170	11728170	+	Silent	SNP	C	C	T	rs140038234		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:11728170C>T	ENST00000361113.5	+	4	1060	c.852C>T	c.(850-852)tgC>tgT	p.C284C	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GTAAACAGTGCGGTAAAGCCT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		22884	0.0		0.001	False		,,,				2504	0.0				Melanoma(112;173 1614 10731 17751 23322)												0													50.0	54.0	53.0					19																	11728170		2199	4299	6498	SO:0001819	synonymous_variant	0			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.852C>T	19.37:g.11728170C>T			O14846|Q4KMP9|Q6NT81|Q9BRG4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C284	ENST00000361113.5	37	c.852	CCDS42502.1	19																																																																																			ZNF627	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198551		0.458	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF627	HGNC	protein_coding	OTTHUMT00000458875.1		0.00	63	0	C	NM_145295		11728170	+1			no_errors	ENST00000361113	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.988	T
ZNF440	126070	genome.wustl.edu	37	19	11943541	11943541	+	Missense_Mutation	SNP	C	C	T	rs201343885		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:11943541C>T	ENST00000304060.5	+	4	1714	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCTATAAATGCGAGCAATGTG	0.443																																																	0								C	VAL/ALA	1,4367	2.1+/-5.4	0,1,2183	62.0	67.0	65.0		1550	-1.2	0.0	19		65	0,8574		0,0,4287	no	missense	ZNF440	NM_152357.2	64	0,1,6470	TT,TC,CC		0.0,0.0229,0.0077	possibly-damaging	517/596	11943541	1,12941	2184	4287	6471	SO:0001583	missense	0			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1550C>T	19.37:g.11943541C>T	ENSP00000305373:p.Ala517Val		Q8N1R9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A517V	ENST00000304060.5	37	c.1550	CCDS42503.1	19	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.055209	0.00390	2.29E-4	0.0	ENSG00000171295	ENST00000304060	T	0.04551	3.6	1.22	-1.24	0.09435	.	.	.	.	.	T	0.01254	0.0041	N	0.00179	-1.91	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46857	-0.9161	9	0.72032	D	0.01	.	6.4373	0.21831	0.0:0.325:0.0:0.675	.	517	Q8IYI8	ZN440_HUMAN	V	517	ENSP00000305373:A517V	ENSP00000305373:A517V	A	+	2	0	ZNF440	11804541	0.011000	0.17503	0.006000	0.13384	0.002000	0.02628	-0.067000	0.11579	-0.468000	0.06922	-1.026000	0.02426	GCG	ZNF440	-	NULL	ENSG00000171295		0.443	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	-	0.00	76	0	C	NM_152357		11943541	+1	tier1	rs201343885	no_errors	ENST00000304060	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.051	T
ZNF737	100129842	genome.wustl.edu	37	19	20728081	20728081	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:20728081C>G	ENST00000427401.4	-	4	1022	c.928G>C	c.(928-930)Gag>Cag	p.E310Q		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	310					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TAGGGTTTCTCTCCGCTATGA	0.413																																																	0													40.0	39.0	39.0					19																	20728081		692	1591	2283	SO:0001583	missense	0			BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.928G>C	19.37:g.20728081C>G	ENSP00000395733:p.Glu310Gln		C9JHM3	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.E310Q	ENST00000427401.4	37	c.928	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	-	15.47	2.841848	0.51057	.	.	ENSG00000237440	ENST00000427401	T	0.25912	1.77	0.801	0.801	0.18679	.	.	.	.	.	T	0.40886	0.1135	L	0.58428	1.81	0.26624	N	0.972602	D	0.76494	0.999	D	0.71870	0.975	T	0.17198	-1.0377	9	0.72032	D	0.01	.	6.955	0.24565	0.0:1.0:0.0:0.0	.	310	C9JHM3	.	Q	310	ENSP00000395733:E310Q	ENSP00000395733:E310Q	E	-	1	0	ZNF737	20519921	0.828000	0.29307	0.061000	0.19648	0.061000	0.15899	3.485000	0.53208	0.170000	0.19704	0.173000	0.16961	GAG	ZNF737	-	pfscan_Znf_C2H2	ENSG00000237440		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	-	0.00	74	0	C	NM_145289		20728081	-1	tier1	-	no_errors	ENST00000427401	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	G
