#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTS1	9510	genome.wustl.edu	37	21	28214903	28214903	+	Silent	SNP	G	G	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr21:28214903G>A	ENST00000284984.3	-	2	1286	c.832C>T	c.(832-834)Cta>Tta	p.L278L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	278	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TAATGCTTTAGACCACTGCCG	0.483																																						dbGAP											0													86.0	75.0	79.0					21																	28214903		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.832C>T	21.37:g.28214903G>A			D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.L278	ENST00000284984.3	37	c.832	CCDS33524.1	21																																																																																			ADAMTS1	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000154734		0.483	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	76	0.00	0	G			28214903	28214903	-1	no_errors	ENST00000284984	ensembl	human	known	69_37n	silent	44	26.67	16	SNP	0.988	A
AGTPBP1	23287	genome.wustl.edu	37	9	88211299	88211299	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr9:88211299C>A	ENST00000357081.3	-	18	2545	c.2401G>T	c.(2401-2403)Ggg>Tgg	p.G801W	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.G761W|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.G813W|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	801					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATGTCAGTCCCCATACGAATC	0.343																																						dbGAP											0													62.0	61.0	62.0					9																	88211299		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2401G>T	9.37:g.88211299C>A	ENSP00000349592:p.Gly801Trp		B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.G813W	ENST00000357081.3	37	c.2437		9	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645582	0.87859	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.25250	1.81;1.82;1.81	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.77975	-0.2385	10	0.87932	D	0	-14.8498	19.7839	0.96430	0.0:1.0:0.0:0.0	.	813;801;761	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	W	801;761;813	ENSP00000349592:G801W;ENSP00000365251:G761W;ENSP00000365277:G813W	ENSP00000349592:G801W	G	-	1	0	AGTPBP1	87401119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.486000	0.81215	2.756000	0.94617	0.655000	0.94253	GGG	AGTPBP1	-	NULL	ENSG00000135049		0.343	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	339	0.29	1	C	NM_015239		88211299	88211299	-1	no_errors	ENST00000376109	ensembl	human	known	69_37n	missense	181	14.22	30	SNP	1.000	A
ATL3	25923	genome.wustl.edu	37	11	63398771	63398771	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr11:63398771T>G	ENST00000398868.3	-	12	1556	c.1280A>C	c.(1279-1281)aAc>aCc	p.N427T	ATL3_ENST00000332645.4_Missense_Mutation_p.N454T|ATL3_ENST00000538786.1_Missense_Mutation_p.N409T	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	427					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CTTGCAGAAGTTCTCATATAA	0.488																																						dbGAP											0													130.0	128.0	129.0					11																	63398771		1922	4143	6065	-	-	-	SO:0001583	missense	0				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1280A>C	11.37:g.63398771T>G	ENSP00000381844:p.Asn427Thr		Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.N454T	ENST00000398868.3	37	c.1361	CCDS41663.1	11	.	.	.	.	.	.	.	.	.	.	T	8.048	0.765312	0.15914	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.56444	0.46;0.46;0.46	5.51	2.96	0.34315	Guanylate-binding protein, C-terminal (3);	0.400169	0.29846	N	0.011048	T	0.45357	0.1338	L	0.60957	1.885	0.35743	D	0.818851	B	0.15719	0.014	B	0.25614	0.062	T	0.46679	-0.9174	10	0.54805	T	0.06	-10.1146	4.6348	0.12520	0.0:0.187:0.1607:0.6522	.	427	Q6DD88	ATLA3_HUMAN	T	427;454;409	ENSP00000381844:N427T;ENSP00000329034:N454T;ENSP00000437593:N409T	ENSP00000329034:N454T	N	-	2	0	ATL3	63155347	1.000000	0.71417	0.368000	0.25939	0.142000	0.21351	3.209000	0.51122	0.305000	0.22832	0.533000	0.62120	AAC	ATL3	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000184743		0.488	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATL3	HGNC	protein_coding	OTTHUMT00000396637.1	224	0.44	1	T	NM_015459		63398771	63398771	-1	no_errors	ENST00000332645	ensembl	human	known	69_37n	missense	189	10.80	23	SNP	0.337	G
CCDC155	147872	genome.wustl.edu	37	19	49920669	49920669	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr19:49920669C>A	ENST00000447857.3	+	20	1796	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	531	Poly-Leu.					chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCTGGGCctgctgctgctgct	0.657																																						dbGAP											0													47.0	53.0	51.0					19																	49920669		2128	4212	6340	-	-	-	SO:0001583	missense	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1591C>A	19.37:g.49920669C>A	ENSP00000404220:p.Leu531Met		Q96MC3	Missense_Mutation	SNP	NULL	p.L531M	ENST00000447857.3	37	c.1591	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	c	16.87	3.241274	0.58995	.	.	ENSG00000161609	ENST00000447857	T	0.59502	0.26	3.79	1.48	0.22813	.	0.000000	0.45867	D	0.000329	T	0.67458	0.2895	M	0.67953	2.075	0.24403	N	0.994699	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.54543	-0.8278	10	0.87932	D	0	-16.9385	5.6012	0.17355	0.2138:0.5465:0.2397:0.0	.	531;531	C9JGW3;Q8N6L0	.;CC155_HUMAN	M	531	ENSP00000404220:L531M	ENSP00000404220:L531M	L	+	1	2	CCDC155	54612481	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	0.833000	0.27504	0.877000	0.35895	0.450000	0.29827	CTG	CCDC155	-	NULL	ENSG00000161609		0.657	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	181	0.55	1	C	NM_144688		49920669	49920669	+1	no_errors	ENST00000447857	ensembl	human	known	69_37n	missense	165	17.00	34	SNP	0.999	A
CDH10	1008	genome.wustl.edu	37	5	24491905	24491906	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr5:24491905_24491906insT	ENST00000264463.4	-	11	2162_2163	c.1655_1656insA	c.(1654-1656)aatfs	p.N552fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TATTGAATCCATTTTTTCTGGT	0.356										HNSCC(23;0.051)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1656dupA	5.37:g.24491911_24491911dupT	ENSP00000264463:p.Asn552fs		Q9ULB3	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N552fs	ENST00000264463.4	37	c.1656_1655	CCDS3892.1	5																																																																																			CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.356	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	258	0.00	0	-	NM_006727		24491905	24491906	-1	no_errors	ENST00000264463	ensembl	human	known	69_37n	frame_shift_ins	226	15.04	40	INS	1.000:1.000	T
DOPEY2	9980	genome.wustl.edu	37	21	37618234	37618234	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr21:37618234G>A	ENST00000399151.3	+	19	4041	c.3956G>A	c.(3955-3957)tGc>tAc	p.C1319Y		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1319					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACCTACCTCTGCCTGAGCTTC	0.582																																						dbGAP											0													120.0	119.0	119.0					21																	37618234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3956G>A	21.37:g.37618234G>A	ENSP00000382104:p.Cys1319Tyr		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.C1319Y	ENST00000399151.3	37	c.3956	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792176	0.70452	.	.	ENSG00000142197	ENST00000399151	T	0.44881	0.91	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74864	-0.3519	10	0.72032	D	0.01	.	17.8467	0.88732	0.0:0.0:1.0:0.0	.	1319;1319	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	Y	1319	ENSP00000382104:C1319Y	ENSP00000382104:C1319Y	C	+	2	0	DOPEY2	36540104	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.222000	0.95196	2.295000	0.77249	0.655000	0.94253	TGC	DOPEY2	-	NULL	ENSG00000142197		0.582	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	55	0.00	0	G	NM_005128		37618234	37618234	+1	no_errors	ENST00000399151	ensembl	human	known	69_37n	missense	59	24.36	19	SNP	1.000	A
DPEP1	1800	genome.wustl.edu	37	16	89702958	89702958	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr16:89702958C>T	ENST00000393092.3	+	5	679	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	DPEP1_ENST00000261615.4_Missense_Mutation_p.R130W|DPEP1_ENST00000421184.1_Missense_Mutation_p.R130W	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	130					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GCAGGCCTTCCGGGAAGGGAA	0.657																																						dbGAP											0													46.0	45.0	45.0					16																	89702958		2190	4293	6483	-	-	-	SO:0001583	missense	0				CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.388C>T	16.37:g.89702958C>T	ENSP00000376807:p.Arg130Trp		D3DX80|Q96AK2	Missense_Mutation	SNP	pfam_Peptidase_M19	p.R130W	ENST00000393092.3	37	c.388	CCDS10982.1	16	.	.	.	.	.	.	.	.	.	.	c	16.39	3.110581	0.56398	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.24350	1.86;1.86;1.86	5.27	4.32	0.51571	.	0.848343	0.10907	N	0.620987	T	0.50137	0.1598	M	0.87682	2.9	0.30860	N	0.733617	D	0.67145	0.996	P	0.58620	0.842	T	0.55179	-0.8181	10	0.87932	D	0	-11.5838	8.9528	0.35799	0.0:0.7667:0.1505:0.0829	.	130	P16444	DPEP1_HUMAN	W	130	ENSP00000397313:R130W;ENSP00000376807:R130W;ENSP00000261615:R130W	ENSP00000261615:R130W	R	+	1	2	DPEP1	88230459	0.001000	0.12720	0.785000	0.31869	0.430000	0.31655	0.058000	0.14301	1.229000	0.43630	0.550000	0.68814	CGG	DPEP1	-	pfam_Peptidase_M19	ENSG00000015413		0.657	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	HGNC	protein_coding	OTTHUMT00000423058.1	48	0.00	0	C	NM_001128141		89702958	89702958	+1	no_errors	ENST00000261615	ensembl	human	known	69_37n	missense	17	55.26	21	SNP	0.746	T
EPHA2	1969	genome.wustl.edu	37	1	16464453	16464453	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr1:16464453C>T	ENST00000358432.5	-	5	1361	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	403	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ATGTGGGGCTCCAGGTCGCTC	0.637																																						dbGAP											0													67.0	65.0	66.0					1																	16464453		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1207G>A	1.37:g.16464453C>T	ENSP00000351209:p.Glu403Lys		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.E403K	ENST00000358432.5	37	c.1207	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980862	0.34942	.	.	ENSG00000142627	ENST00000358432	T	0.56611	0.45	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.110602	0.40469	N	0.001098	T	0.55752	0.1940	M	0.74881	2.28	0.80722	D	1	P;P	0.40578	0.722;0.689	B;B	0.38683	0.229;0.279	T	0.64597	-0.6370	10	0.66056	D	0.02	.	16.1088	0.81244	0.0:1.0:0.0:0.0	.	403;403	B5A968;P29317	.;EPHA2_HUMAN	K	403	ENSP00000351209:E403K	ENSP00000351209:E403K	E	-	1	0	EPHA2	16337040	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	2.094000	0.41719	2.488000	0.83962	0.561000	0.74099	GAG	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142627		0.637	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	37	0.00	0	C	NM_004431		16464453	16464453	-1	no_errors	ENST00000358432	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	1.000	T
EXOC2	55770	genome.wustl.edu	37	6	564578	564578	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr6:564578C>A	ENST00000230449.4	-	15	1769	c.1634G>T	c.(1633-1635)gGa>gTa	p.G545V	EXOC2_ENST00000448181.3_Missense_Mutation_p.G140V	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	545					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GAGCCACTGTCCGGAGAGCTC	0.532																																						dbGAP											0													95.0	94.0	94.0					6																	564578		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1634G>T	6.37:g.564578C>A	ENSP00000230449:p.Gly545Val		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.G545V	ENST00000230449.4	37	c.1634	CCDS34327.1	6	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652750	0.47362	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T	0.45668	0.89	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.66939	2.045	0.80722	D	1	P	0.40909	0.732	B	0.39094	0.29	T	0.15122	-1.0448	10	0.29301	T	0.29	-19.7587	19.2388	0.93873	0.0:1.0:0.0:0.0	.	545	Q96KP1	EXOC2_HUMAN	V	545;140	ENSP00000230449:G545V	ENSP00000230449:G545V	G	-	2	0	EXOC2	509578	1.000000	0.71417	0.862000	0.33874	0.185000	0.23345	5.580000	0.67464	2.549000	0.85964	0.591000	0.81541	GGA	EXOC2	-	NULL	ENSG00000112685		0.532	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	HGNC	protein_coding	OTTHUMT00000039627.1	70	0.00	0	C	NM_018303		564578	564578	-1	no_errors	ENST00000230449	ensembl	human	known	69_37n	missense	47	22.95	14	SNP	0.997	A
F2	2147	genome.wustl.edu	37	11	46741275	46741275	+	Missense_Mutation	SNP	C	C	G	rs144785536		TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr11:46741275C>G	ENST00000311907.5	+	2	159	c.103C>G	c.(103-105)Cgg>Ggg	p.R35G	F2_ENST00000530231.1_Missense_Mutation_p.R35G	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	35					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TCAGCAAGCACGGTCGCTGCT	0.637																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	dbGAP											0													36.0	28.0	31.0					11																	46741275		2199	4295	6494	-	-	-	SO:0001583	missense	0			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.103C>G	11.37:g.46741275C>G	ENSP00000308541:p.Arg35Gly		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_prothrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A_prothrombin,prints_Peptidase_S1A,prints_GLA_domain	p.R35G	ENST00000311907.5	37	c.103	CCDS31476.1	11	.	.	.	.	.	.	.	.	.	.	C	5.338	0.247749	0.10130	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	D;D;D	0.93488	-2.59;-2.8;-3.23	5.34	-0.00333	0.14026	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	0.963292	0.08654	N	0.913471	T	0.81767	0.4892	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.70163	-0.4947	10	0.87932	D	0	.	4.3019	0.10928	0.3492:0.3937:0.0:0.2571	.	35	P00734	THRB_HUMAN	G	35;35;25	ENSP00000308541:R35G;ENSP00000433907:R35G;ENSP00000387413:R25G	ENSP00000308541:R35G	R	+	1	2	F2	46697851	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.556000	0.05992	-0.258000	0.09446	-0.521000	0.04368	CGG	F2	-	smart_GLA_domain,pirsf_Peptidase_S1A_prothrombin	ENSG00000180210		0.637	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1	36	0.00	0	C			46741275	46741275	+1	no_errors	ENST00000311907	ensembl	human	known	69_37n	missense	37	13.64	6	SNP	0.000	G
FAM184A	79632	genome.wustl.edu	37	6	119345581	119345581	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr6:119345581G>T	ENST00000338891.7	-	2	1000	c.557C>A	c.(556-558)gCa>gAa	p.A186E	FAM184A_ENST00000521531.1_Missense_Mutation_p.A186E|FAM184A_ENST00000522284.1_Missense_Mutation_p.A66E|FAM184A_ENST00000368475.4_Missense_Mutation_p.A66E|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.A66E	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	186						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTCTTCCAATGCCAATCGTTT	0.418																																						dbGAP											0													153.0	139.0	144.0					6																	119345581		1911	4131	6042	-	-	-	SO:0001583	missense	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.557C>A	6.37:g.119345581G>T	ENSP00000342604:p.Ala186Glu		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.A186E	ENST00000338891.7	37	c.557	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057438	0.55325	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.999	T	0.43343	-0.9397	10	0.38643	T	0.18	-8.8257	19.9145	0.97053	0.0:0.0:1.0:0.0	.	186;66;186	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	E	186;66;66;186;66	ENSP00000342604:A186E;ENSP00000326608:A66E;ENSP00000357460:A66E;ENSP00000430442:A186E;ENSP00000429826:A66E	ENSP00000342604:A186E	A	-	2	0	FAM184A	119387280	1.000000	0.71417	0.112000	0.21494	0.008000	0.06430	7.569000	0.82380	2.709000	0.92574	0.655000	0.94253	GCA	FAM184A	-	NULL	ENSG00000111879		0.418	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	344	0.00	0	G	NM_024581		119345581	119345581	-1	no_errors	ENST00000338891	ensembl	human	known	69_37n	missense	251	19.03	59	SNP	0.998	T
GPR98	84059	genome.wustl.edu	37	5	90052933	90052933	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr5:90052933A>C	ENST00000405460.2	+	57	11991	c.11895A>C	c.(11893-11895)gaA>gaC	p.E3965D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3965	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGGCCTGGAAGACTTTAAAC	0.428																																						dbGAP											0													88.0	89.0	89.0					5																	90052933		1878	4106	5984	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11895A>C	5.37:g.90052933A>C	ENSP00000384582:p.Glu3965Asp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E3965D	ENST00000405460.2	37	c.11895	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.90|14.90	2.674125|2.674125	0.47781|0.47781	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.28454|.	1.61|.	5.08|5.08	2.6|2.6	0.31112|0.31112	Na-Ca exchanger/integrin-beta4 (2);|.	0.250469|.	0.46758|.	D|.	0.000272|.	T|T	0.61198|0.61198	0.2328|0.2328	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	B;B|.	0.29232|.	0.153;0.238|.	B;B|.	0.31101|.	0.124;0.085|.	T|T	0.55289|0.55289	-0.8164|-0.8164	10|5	0.27082|.	T|.	0.32|.	.|.	8.8327|8.8327	0.35093|0.35093	0.7801:0.0:0.2199:0.0|0.7801:0.0:0.2199:0.0	.|.	3965;3965|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	D|T	3965|1531	ENSP00000384582:E3965D|.	ENSP00000296619:E3965D|.	E|K	+|+	3|2	2|0	GPR98|GPR98	90088689|90088689	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.952000|0.952000	0.60782|0.60782	1.051000|1.051000	0.30417|0.30417	0.329000|0.329000	0.23460|0.23460	0.383000|0.383000	0.25322|0.25322	GAA|AAG	GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	344	0.29	1	A	NM_032119		90052933	90052933	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	204	14.29	34	SNP	1.000	C
FBXL17	64839	genome.wustl.edu	37	5	107216863	107216863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr5:107216863G>A	ENST00000542267.1	-	8	2246	c.1840C>T	c.(1840-1842)Cga>Tga	p.R614*	FBXL17_ENST00000496714.1_Nonsense_Mutation_p.R216*|FBXL17_ENST00000359660.5_Nonsense_Mutation_p.R216*	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	614										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		ATGCTGTATCGCCCAATGGCT	0.448																																						dbGAP											0													143.0	131.0	135.0					5																	107216863		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1840C>T	5.37:g.107216863G>A	ENSP00000437464:p.Arg614*		A1A4E3	Nonsense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.R614*	ENST00000542267.1	37	c.1840	CCDS54886.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.574164	0.99208	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	.	.	.	6.17	5.3	0.74995	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	16.0155	0.80434	0.0:0.0:0.7558:0.2442	.	.	.	.	X	216;614;216	.	ENSP00000352683:R216X	R	-	1	2	FBXL17	107244762	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	6.338000	0.72963	1.618000	0.50286	0.655000	0.94253	CGA	FBXL17	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000145743		0.448	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL17	HGNC	protein_coding		292	0.34	1	G			107216863	107216863	-1	no_errors	ENST00000542267	ensembl	human	known	69_37n	nonsense	145	28.22	57	SNP	1.000	A
GTPBP4	23560	genome.wustl.edu	37	10	1038429	1038429	+	Splice_Site	SNP	G	G	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr10:1038429G>T	ENST00000360803.4	+	2	131	c.49G>T	c.(49-51)Gac>Tac	p.D17Y	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000545048.1_5'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	17					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTAATTGCAGGACTTCATAGA	0.318																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.49-1G>T	10.37:g.1038429G>T			B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.D17Y	ENST00000360803.4	37	c.49	CCDS31132.1	10	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137262	0.56936	.	.	ENSG00000107937	ENST00000360803	T	0.39997	1.05	5.59	4.68	0.58851	.	0.094047	0.64402	D	0.000001	T	0.69548	0.3123	M	0.89785	3.06	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	T	0.77887	-0.2420	9	.	.	.	-13.1654	16.8282	0.85937	0.0:0.1288:0.8712:0.0	.	17	Q9BZE4	NOG1_HUMAN	Y	17	ENSP00000354040:D17Y	.	D	+	1	0	GTPBP4	1028429	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	9.445000	0.97587	1.482000	0.48325	-0.182000	0.12963	GAC	GTPBP4	-	NULL	ENSG00000107937		0.318	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	359	0.00	0	G	NM_012341	Missense_Mutation	1038429	1038429	+1	no_errors	ENST00000360803	ensembl	human	known	69_37n	missense	247	37.78	150	SNP	1.000	T
KIAA1191	57179	genome.wustl.edu	37	5	175782743	175782743	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr5:175782743G>C	ENST00000298569.4	-	4	571	c.38C>G	c.(37-39)gCt>gGt	p.A13G	RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000393725.2_5'UTR|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A13G|RP11-843P14.1_ENST00000512934.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	13						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		AGGCGCACTAGCCTCAAGAGC	0.512																																						dbGAP											0													47.0	44.0	45.0					5																	175782743		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.38C>G	5.37:g.175782743G>C	ENSP00000298569:p.Ala13Gly		B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	NULL	p.A13G	ENST00000298569.4	37	c.38	CCDS4399.1	5	.	.	.	.	.	.	.	.	.	.	G	5.903	0.350678	0.11182	.	.	ENSG00000122203	ENST00000298569;ENST00000510164	.	.	.	4.92	4.92	0.64577	.	0.394607	0.27739	N	0.018055	T	0.50718	0.1632	L	0.40543	1.245	0.53688	D	0.999973	B	0.23249	0.082	B	0.18871	0.023	T	0.44205	-0.9343	9	0.14656	T	0.56	-1.7639	14.1352	0.65284	0.0:0.0:0.7804:0.2196	.	13	Q96A73	K1191_HUMAN	G	13	.	ENSP00000298569:A13G	A	-	2	0	KIAA1191	175715349	0.973000	0.33851	0.942000	0.38095	0.588000	0.36517	2.399000	0.44495	2.438000	0.82558	0.591000	0.81541	GCT	KIAA1191	-	NULL	ENSG00000122203		0.512	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1191	HGNC	protein_coding	OTTHUMT00000253146.2	24	0.00	0	G	NM_020444		175782743	175782743	-1	no_errors	ENST00000298569	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	0.391	C
MGAT5B	146664	genome.wustl.edu	37	17	74902269	74902269	+	Splice_Site	SNP	G	G	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr17:74902269G>A	ENST00000569840.2	+	8	1599	c.1025G>A	c.(1024-1026)aGt>aAt	p.S342N	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Splice_Site_p.S353N|MGAT5B_ENST00000301618.4_Splice_Site_p.S342N	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	342					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCTGCAGAGGTGAGTGCTG	0.647																																						dbGAP											0													48.0	42.0	44.0					17																	74902269		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1025+1G>A	17.37:g.74902269G>A			Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.S353N	ENST00000569840.2	37	c.1058	CCDS59299.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.71|16.71	3.198443|3.198443	0.58126|0.58126	.|.	.|.	ENSG00000167889|ENSG00000167889	ENST00000374998|ENST00000301618;ENST00000428789	.|T;T	.|0.47869	.|0.84;0.83	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.101556	.|0.64402	.|D	.|0.000001	T|T	0.48095|0.48095	0.1481|0.1481	L|L	0.54323|0.54323	1.7|1.7	0.54753|0.54753	D|D	0.999987|0.999987	.|P;P	.|0.44816	.|0.844;0.728	.|B;B	.|0.41764	.|0.366;0.366	T|T	0.47699|0.47699	-0.9097|-0.9097	6|10	0.23302|0.38643	T|T	0.38|0.18	-2.5536|-2.5536	17.8862|17.8862	0.88855|0.88855	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|353;342	.|Q3V5L5-2;Q3V5L5-5	.|.;.	K|N	342|342;353	.|ENSP00000301618:S342N;ENSP00000391227:S353N	ENSP00000364137:R342K|ENSP00000301618:S342N	R|S	+|+	2|2	0|0	MGAT5B|MGAT5B	72413864|72413864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.643000|9.643000	0.98464|0.98464	2.464000|2.464000	0.83262|0.83262	0.455000|0.455000	0.32223|0.32223	AGG|AGT	MGAT5B	-	NULL	ENSG00000167889		0.647	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	51	0.00	0	G	NM_144677	Missense_Mutation	74902269	74902269	+1	no_errors	ENST00000428789	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	1.000	A
NBPF22P	285622	genome.wustl.edu	37	5	85582741	85582741	+	RNA	SNP	G	G	C			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr5:85582741G>C	ENST00000590707.1	+	0	733					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		AGAGGAGGTAGAAGACCAAAG	0.413																																						dbGAP											0																																										-	-	-			0			BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85582741G>C				RNA	SNP	-	NULL	ENST00000590707.1	37	NULL		5																																																																																			NBPF22P	-	-	ENSG00000205449		0.413	NBPF22P-004	KNOWN	basic	processed_transcript	NBPF22P	HGNC	pseudogene	OTTHUMT00000453100.1	746	0.00	0	G	XM_208333		85582741	85582741	+1	no_errors	ENST00000590707	ensembl	human	known	69_37n	rna	204	62.08	334	SNP	0.000	C
NPAS4	266743	genome.wustl.edu	37	11	66192244	66192244	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr11:66192244A>G	ENST00000311034.2	+	7	2059	c.1883A>G	c.(1882-1884)gAg>gGg	p.E628G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	628					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCTGAAAAGGAGCAGAATGAG	0.582																																						dbGAP											0													114.0	117.0	116.0					11																	66192244		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1883A>G	11.37:g.66192244A>G	ENSP00000311196:p.Glu628Gly		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.E628G	ENST00000311034.2	37	c.1883	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	A	10.74	1.434337	0.25813	.	.	ENSG00000174576	ENST00000311034	T	0.63744	-0.06	4.39	3.21	0.36854	.	0.349677	0.24693	N	0.036370	T	0.47911	0.1471	L	0.29908	0.895	0.42153	D	0.991569	B	0.26635	0.155	B	0.25405	0.06	T	0.47548	-0.9109	10	0.72032	D	0.01	-2.0052	9.2769	0.37705	0.818:0.182:0.0:0.0	.	628	Q8IUM7	NPAS4_HUMAN	G	628	ENSP00000311196:E628G	ENSP00000311196:E628G	E	+	2	0	NPAS4	65948820	1.000000	0.71417	0.996000	0.52242	0.619000	0.37552	5.808000	0.69165	0.783000	0.33636	0.533000	0.62120	GAG	NPAS4	-	NULL	ENSG00000174576		0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	37	0.00	0	A	NM_178864		66192244	66192244	+1	no_errors	ENST00000311034	ensembl	human	known	69_37n	missense	45	49.44	44	SNP	1.000	G
TENM2	57451	genome.wustl.edu	37	5	167626024	167626024	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr5:167626024G>C	ENST00000518659.1	+	16	3106	c.3067G>C	c.(3067-3069)Ggc>Cgc	p.G1023R	TENM2_ENST00000520394.1_Missense_Mutation_p.G791R|TENM2_ENST00000545108.1_Missense_Mutation_p.G1023R|TENM2_ENST00000519204.1_Missense_Mutation_p.G902R|TENM2_ENST00000403607.2_Missense_Mutation_p.G847R	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1023					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGACCTCAGTGGCTTTGTCCG	0.587																																						dbGAP											0													79.0	84.0	82.0					5																	167626024		2092	4214	6306	-	-	-	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3067G>C	5.37:g.167626024G>C	ENSP00000429430:p.Gly1023Arg		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G1023R	ENST00000518659.1	37	c.3067		5	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574225	0.86542	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89343	-2.03;-2.02;-2.13;-2.48;-2.5	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92458	0.5975	10	0.40728	T	0.16	.	19.2165	0.93780	0.0:0.0:1.0:0.0	.	1023;1023;791	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	R	1023;1023;902;791;847	ENSP00000429430:G1023R;ENSP00000438635:G1023R;ENSP00000428964:G902R;ENSP00000427874:G791R;ENSP00000384905:G847R	ENSP00000384905:G847R	G	+	1	0	ODZ2	167558602	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.545000	0.85829	0.563000	0.77884	GGC	ODZ2	-	superfamily_ConA-like_lec_gl	ENSG00000145934		0.587	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	218	0.00	0	G	NM_001122679		167626024	167626024	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	missense	100	45.95	85	SNP	1.000	C
PDHB	5162	genome.wustl.edu	37	3	58413894	58413894	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr3:58413894T>G	ENST00000302746.6	-	10	989	c.947A>C	c.(946-948)aAt>aCt	p.N316T	RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000485460.1_Missense_Mutation_p.N298T|PDHB_ENST00000474765.1_Missense_Mutation_p.Q338H	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	316					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	ATCCAGGAAATTGAACGCAGG	0.512																																						dbGAP											0													62.0	57.0	59.0					3																	58413894		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.947A>C	3.37:g.58413894T>G	ENSP00000307241:p.Asn316Thr		B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.N316T	ENST00000302746.6	37	c.947	CCDS2890.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.96|17.96	3.515208|3.515208	0.64634|0.64634	.|.	.|.	ENSG00000168291|ENSG00000168291	ENST00000302746;ENST00000383714;ENST00000485460|ENST00000474765	D;D;D|D	0.90133|0.96396	-2.62;-2.62;-2.62|-4.0	6.16|6.16	4.99|4.99	0.66335|0.66335	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);|.	0.079288|.	0.85682|.	D|.	0.000000|.	D|D	0.94843|0.94843	0.8334|0.8334	L|L	0.31207|0.31207	0.915|0.915	0.30048|0.30048	N|N	0.812015|0.812015	B;B;B|D	0.31174|0.56521	0.001;0.004;0.311|0.976	B;B;B|P	0.34385|0.51016	0.01;0.01;0.181|0.656	D|D	0.91885|0.91885	0.5519|0.5519	10|9	0.87932|0.56958	D|D	0|0.05	-17.8642|-17.8642	13.6588|13.6588	0.62354|0.62354	0.0:0.0:0.1291:0.8709|0.0:0.0:0.1291:0.8709	.|.	298;298;316|338	B4DDD7;P11177-2;P11177|C9J634	.;.;ODPB_HUMAN|.	T|H	316;298;298|338	ENSP00000307241:N316T;ENSP00000373220:N298T;ENSP00000417267:N298T|ENSP00000418448:Q338H	ENSP00000307241:N316T|ENSP00000418448:Q338H	N|Q	-|-	2|3	0|2	PDHB|PDHB	58388934|58388934	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	7.665000|7.665000	0.83852|0.83852	1.127000|1.127000	0.42034|0.42034	0.528000|0.528000	0.53228|0.53228	AAT|CAA	PDHB	-	pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred	ENSG00000168291		0.512	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHB	HGNC	protein_coding	OTTHUMT00000353558.1	144	0.00	0	T			58413894	58413894	-1	no_errors	ENST00000302746	ensembl	human	known	69_37n	missense	55	55.65	69	SNP	1.000	G
PLEC	5339	genome.wustl.edu	37	8	145004699	145004699	+	Silent	SNP	C	C	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr8:145004699C>T	ENST00000322810.4	-	20	2890	c.2721G>A	c.(2719-2721)gaG>gaA	p.E907E	PLEC_ENST00000436759.2_Silent_p.E797E|PLEC_ENST00000354958.2_Silent_p.E748E|PLEC_ENST00000357649.2_Silent_p.E774E|PLEC_ENST00000398774.2_Silent_p.E738E|PLEC_ENST00000345136.3_Silent_p.E770E|PLEC_ENST00000356346.3_Silent_p.E756E|PLEC_ENST00000527096.1_Silent_p.E793E|PLEC_ENST00000354589.3_Silent_p.E770E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	907	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGTTCCTTCTCGTCCTGTG	0.701																																						dbGAP											0													13.0	17.0	16.0					8																	145004699		1949	4121	6070	-	-	-	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2721G>A	8.37:g.145004699C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E907	ENST00000322810.4	37	c.2721	CCDS43772.1	8																																																																																			PLEC	-	smart_Spectrin/alpha-actinin	ENSG00000178209		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	37	0.00	0	C	NM_000445		145004699	145004699	-1	no_errors	ENST00000322810	ensembl	human	known	69_37n	silent	31	11.43	4	SNP	1.000	T
PNPLA8	50640	genome.wustl.edu	37	7	108155517	108155517	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr7:108155517G>C	ENST00000422087.1	-	4	825	c.419C>G	c.(418-420)tCg>tGg	p.S140W	PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.S40W|PNPLA8_ENST00000388728.5_Missense_Mutation_p.S140W|PNPLA8_ENST00000436062.1_Missense_Mutation_p.S140W|PNPLA8_ENST00000257694.8_Missense_Mutation_p.S140W|PNPLA8_ENST00000426128.2_Missense_Mutation_p.S140W	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	140					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GCCACTATCCGATACTTTTCT	0.338																																						dbGAP											0													50.0	56.0	54.0					7																	108155517		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.419C>G	7.37:g.108155517G>C	ENSP00000410804:p.Ser140Trp		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.S140W	ENST00000422087.1	37	c.419	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736516	0.30774	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085;ENST00000427008	D;D;D;D;D;D;D	0.98105	-3.52;-4.72;-3.52;-4.72;-4.71;-4.72;-4.71	5.78	4.9	0.64082	.	0.559024	0.17793	N	0.161838	D	0.96420	0.8832	M	0.64997	1.995	0.22330	N	0.999197	D	0.53885	0.963	P	0.47299	0.543	D	0.92742	0.6209	10	0.87932	D	0	.	6.1804	0.20468	0.0721:0.1346:0.6536:0.1396	.	140	Q9NP80	PLPL8_HUMAN	W	140;140;140;140;40;140;40;140	ENSP00000394988:S140W;ENSP00000257694:S140W;ENSP00000373380:S140W;ENSP00000410804:S140W;ENSP00000387789:S40W;ENSP00000406779:S140W;ENSP00000402274:S40W	ENSP00000257694:S140W	S	-	2	0	PNPLA8	107942753	0.987000	0.35691	0.976000	0.42696	0.513000	0.34164	1.166000	0.31834	1.436000	0.47453	0.591000	0.81541	TCG	PNPLA8	-	NULL	ENSG00000135241		0.338	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	234	0.00	0	G	NM_015723		108155517	108155517	-1	no_errors	ENST00000257694	ensembl	human	known	69_37n	missense	169	13.27	26	SNP	0.245	C
PTPRD	5789	genome.wustl.edu	37	9	8500901	8500901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr9:8500901C>A	ENST00000381196.4	-	21	2524	c.1981G>T	c.(1981-1983)Gag>Tag	p.E661*	PTPRD_ENST00000360074.4_Nonsense_Mutation_p.E648*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.E648*|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.E661*|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.E661*|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	661	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCAAAATCTCGTGAGGCTTG	0.463										TSP Lung(15;0.13)																												dbGAP											0													244.0	233.0	237.0					9																	8500901		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1981G>T	9.37:g.8500901C>A	ENSP00000370593:p.Glu661*		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.E661*	ENST00000381196.4	37	c.1981	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.526181	0.98850	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	.	.	.	5.64	5.64	0.86602	.	0.110860	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7063	0.96072	0.0:1.0:0.0:0.0	.	.	.	.	X	661;661;648;648;661	.	.	E	-	1	0	PTPRD	8490901	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.849000	0.48286	2.644000	0.89710	0.561000	0.74099	GAG	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	586	0.00	0	C			8500901	8500901	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	nonsense	321	14.51	55	SNP	1.000	A
PRRC2B	84726	genome.wustl.edu	37	9	134362560	134362560	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr9:134362560G>A	ENST00000357304.4	+	26	5918	c.5863G>A	c.(5863-5865)Gct>Act	p.A1955T	PRRC2B_ENST00000405995.1_Missense_Mutation_p.A1261T|PRRC2B_ENST00000372249.1_Missense_Mutation_p.A52T|PRRC2B_ENST00000458550.1_Missense_Mutation_p.A1261T|SNORD62A_ENST00000428514.1_RNA	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1955	Poly-Ala.						poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ACAGGCCGCCGCTGCCCAGCA	0.632																																						dbGAP											0													37.0	41.0	40.0					9																	134362560		2042	4184	6226	-	-	-	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5863G>A	9.37:g.134362560G>A	ENSP00000349856:p.Ala1955Thr		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.A1955T	ENST00000357304.4	37	c.5863	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864267	0.51482	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000372249	T;T;T	0.04083	3.71;4.09;3.71	5.18	4.27	0.50696	.	0.192350	0.24318	N	0.039564	T	0.05502	0.0145	L	0.48642	1.525	0.47094	D	0.999316	B;B	0.29188	0.032;0.236	B;B	0.20767	0.015;0.031	T	0.36672	-0.9738	10	0.35671	T	0.21	-19.3793	11.9297	0.52839	0.0854:0.0:0.9146:0.0	.	1261;1955	Q5JSZ5-5;Q5JSZ5	.;PRC2B_HUMAN	T	1261;1955;1261;52	ENSP00000384606:A1261T;ENSP00000349856:A1955T;ENSP00000398853:A1261T	ENSP00000349856:A1955T	A	+	1	0	PRRC2B	133352381	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.079000	0.64431	1.145000	0.42336	0.561000	0.74099	GCT	PRRC2B	-	NULL	ENSG00000130723		0.632	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		66	0.00	0	G			134362560	134362560	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	0.995	A
RAB3GAP2	25782	genome.wustl.edu	37	1	220359016	220359016	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr1:220359016A>G	ENST00000358951.2	-	18	1963	c.1847T>C	c.(1846-1848)tTa>tCa	p.L616S		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	616					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGTGTCCATTAAAGTCTGAGT	0.333																																						dbGAP											0													104.0	100.0	101.0					1																	220359016		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1847T>C	1.37:g.220359016A>G	ENSP00000351832:p.Leu616Ser		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.L616S	ENST00000358951.2	37	c.1847	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904599	0.52333	.	.	ENSG00000118873	ENST00000358951	T	0.37584	1.19	5.75	4.6	0.57074	.	0.227158	0.34932	N	0.003561	T	0.34542	0.0901	L	0.50333	1.59	0.39077	D	0.960827	B	0.13594	0.008	B	0.21546	0.035	T	0.16364	-1.0405	10	0.52906	T	0.07	.	11.9787	0.53107	0.9317:0.0:0.0683:0.0	.	616	Q9H2M9	RBGPR_HUMAN	S	616	ENSP00000351832:L616S	ENSP00000351832:L616S	L	-	2	0	RAB3GAP2	218425639	0.943000	0.32029	0.707000	0.30419	0.998000	0.95712	6.139000	0.71728	0.960000	0.38005	0.528000	0.53228	TTA	RAB3GAP2	-	NULL	ENSG00000118873		0.333	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	499	0.00	0	A	NM_012414		220359016	220359016	-1	no_errors	ENST00000358951	ensembl	human	known	69_37n	missense	423	17.99	93	SNP	0.560	G
REXO2	25996	genome.wustl.edu	37	11	114318554	114318554	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr11:114318554G>C	ENST00000265881.5	+	6	680	c.537G>C	c.(535-537)tgG>tgC	p.W179C	REXO2_ENST00000539275.1_Intron|REXO2_ENST00000539754.1_Missense_Mutation_p.W164C|REXO2_ENST00000538791.1_Missense_Mutation_p.W89C	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	179	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		ATAGACGCTGGTATCCAGAAG	0.398																																						dbGAP											0													152.0	141.0	145.0					11																	114318554		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.537G>C	11.37:g.114318554G>C	ENSP00000265881:p.Trp179Cys		B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.W179C	ENST00000265881.5	37	c.537	CCDS8371.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.4|20.4|20.4	3.987862|3.987862|3.987862	0.74589|0.74589|0.74589	.|.|.	.|.|.	ENSG00000076043|ENSG00000076043|ENSG00000076043	ENST00000544827|ENST00000539119;ENST00000538403|ENST00000265881;ENST00000539754;ENST00000539788;ENST00000538791	.|.|T;T;T;T	.|.|0.23147	.|.|1.92;1.92;1.92;1.92	5.68|5.68|5.68	4.76|4.76|4.76	0.60689|0.60689|0.60689	.|.|Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.68274|0.68274|0.68274	0.2983|0.2983|0.2983	H|H|H	0.98314|0.98314|0.98314	4.2|4.2|4.2	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.89917	.|.|1.0	.|.|D	.|.|0.97110	.|.|1.0	T|T|T	0.82705|0.82705|0.82705	-0.0325|-0.0325|-0.0325	5|5|10	.|.|0.87932	.|.|D	.|.|0	-4.1832|-4.1832|-4.1832	15.8129|15.8129|15.8129	0.78578|0.78578|0.78578	0.0:0.1361:0.8639:0.0|0.0:0.1361:0.8639:0.0|0.0:0.1361:0.8639:0.0	.|.|.	.|.|179	.|.|Q9Y3B8	.|.|ORN_HUMAN	A|L|C	139|134;96|179;164;53;89	.|.|ENSP00000265881:W179C;ENSP00000440665:W164C;ENSP00000446189:W53C;ENSP00000441171:W89C	.|.|ENSP00000265881:W179C	G|V|W	+|+|+	2|1|3	0|0|0	REXO2|REXO2|REXO2	113823764|113823764|113823764	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	9.164000|9.164000|9.164000	0.94755|0.94755|0.94755	1.378000|1.378000|1.378000	0.46305|0.46305|0.46305	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGT|GTA|TGG	REXO2	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000076043		0.398	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO2	HGNC	protein_coding	OTTHUMT00000399087.1	500	0.00	0	G	NM_015523		114318554	114318554	+1	no_errors	ENST00000265881	ensembl	human	known	69_37n	missense	284	23.80	89	SNP	1.000	C
SCAI	286205	genome.wustl.edu	37	9	127781175	127781175	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr9:127781175C>T	ENST00000336505.6	-	9	822	c.764G>A	c.(763-765)cGc>cAc	p.R255H	SCAI_ENST00000373549.4_Missense_Mutation_p.R278H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	255					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTCAGCAAGGCGATTCGATGT	0.403																																						dbGAP											0													101.0	98.0	99.0					9																	127781175		1955	4143	6098	-	-	-	SO:0001583	missense	0			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.764G>A	9.37:g.127781175C>T	ENSP00000336756:p.Arg255His		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	pfam_DUF3550,pirsf_UCP013022	p.R278H	ENST00000336505.6	37	c.833	CCDS48017.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.266925	0.95399	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.48201	0.82;0.82	5.31	5.31	0.75309	.	0.226264	0.45126	D	0.000385	T	0.70561	0.3238	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.989	T	0.74362	-0.3690	10	0.72032	D	0.01	-6.6849	17.9627	0.89090	0.0:1.0:0.0:0.0	.	255;278	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	H	255;278	ENSP00000336756:R255H;ENSP00000362650:R278H	ENSP00000336756:R255H	R	-	2	0	SCAI	126820996	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.398000	0.79919	2.489000	0.83994	0.561000	0.74099	CGC	SCAI	-	pfam_DUF3550,pirsf_UCP013022	ENSG00000173611		0.403	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3	328	0.00	0	C	NM_173690		127781175	127781175	-1	no_errors	ENST00000373549	ensembl	human	known	69_37n	missense	128	18.99	30	SNP	1.000	T
SCN1A	6323	genome.wustl.edu	37	2	166854657	166854657	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr2:166854657C>T	ENST00000303395.4	-	23	4366	c.4367G>A	c.(4366-4368)aGt>aAt	p.S1456N	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1445N|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1428N|SCN1A_ENST00000423058.2_Missense_Mutation_p.S1456N			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1456					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGTACAGACTTTCTTCATA	0.358																																						dbGAP											0													89.0	81.0	83.0					2																	166854657		2203	4294	6497	-	-	-	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4367G>A	2.37:g.166854657C>T	ENSP00000303540:p.Ser1456Asn		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.S1456N	ENST00000303395.4	37	c.4367	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	7.458	0.644152	0.14451	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	5.29	4.29	0.51040	Ion transport (1);	0.053637	0.64402	D	0.000002	D	0.88183	0.6368	N	0.01405	-0.89	0.40537	D	0.980987	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.0;0.001	D	0.83602	0.0129	10	0.02654	T	1	.	3.4514	0.07499	0.0:0.6229:0.0:0.3771	.	1445;1428;1456	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	N	1456;1456;1445;1428	ENSP00000407030:S1456N;ENSP00000303540:S1456N;ENSP00000364554:S1445N;ENSP00000386312:S1428N	ENSP00000303540:S1456N	S	-	2	0	SCN1A	166562903	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.047000	0.64232	2.461000	0.83175	0.460000	0.39030	AGT	SCN1A	-	pfam_Ion_trans_dom	ENSG00000144285		0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	387	0.00	0	C	NM_006920		166854657	166854657	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	missense	245	19.93	61	SNP	1.000	T
SEC1P	653677	genome.wustl.edu	37	19	49184077	49184077	+	RNA	SNP	C	C	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr19:49184077C>T	ENST00000430145.2	+	0	1164					NR_004401.2				secretory blood group 1, pseudogene																		CCAGGGCTCACCTGCCAAGGA	0.637																																						dbGAP											0																																										-	-	-			0					19q13.33	2012-07-04			ENSG00000232871	ENSG00000232871			44149	pseudogene	pseudogene							Standard	NR_004401		Approved		uc010xzv.2		OTTHUMG00000154617		19.37:g.49184077C>T				RNA	SNP	-	NULL	ENST00000430145.2	37	NULL		19																																																																																			SEC1P	-	-	ENSG00000232871		0.637	SEC1P-002	KNOWN	basic	processed_transcript	SEC1P	HGNC	pseudogene	OTTHUMT00000336334.1	26	0.00	0	C	NR_004401		49184077	49184077	+1	no_errors	ENST00000430145	ensembl	human	known	69_37n	rna	17	29.17	7	SNP	0.351	T
SRGN	5552	genome.wustl.edu	37	10	70863653	70863653	+	Missense_Mutation	SNP	G	G	A	rs186846312		TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr10:70863653G>A	ENST00000242465.3	+	3	294	c.254G>A	c.(253-255)cGt>cAt	p.R85H	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	85					biomineral tissue development (GO:0031214)|blood coagulation (GO:0007596)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|maintenance of granzyme B location in T cell secretory granule (GO:0033382)|maintenance of protease location in mast cell secretory granule (GO:0033373)|mast cell secretory granule organization (GO:0033364)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine secretion (GO:0050710)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein processing (GO:0016485)|T cell secretory granule organization (GO:0033371)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|platelet alpha granule lumen (GO:0031093)|zymogen granule (GO:0042588)				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						GACTTGAATCGTATCTTCCCA	0.438													g|||	1	0.000199681	0.0	0.0	5008	,	,		16725	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													78.0	74.0	75.0					10																	70863653		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015516	CCDS7285.1	10q22.1	2007-02-16	2007-02-15	2007-02-15	ENSG00000122862	ENSG00000122862		"""Proteoglycans / Extracellular Matrix : Other"""	9361	protein-coding gene	gene with protein product	"""serglycin proteoglycan"""	177040	"""proteoglycan 1, secretory granule"""	PRG, PRG1			Standard	NR_036430		Approved	PPG	uc001joz.3	P10124	OTTHUMG00000018369	ENST00000242465.3:c.254G>A	10.37:g.70863653G>A	ENSP00000242465:p.Arg85His		B2R4L7|Q5VW06	Missense_Mutation	SNP	pfam_Serglycin	p.R85H	ENST00000242465.3	37	c.254	CCDS7285.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	12.33	1.905430	0.33628	.	.	ENSG00000122862	ENST00000242465	T	0.45668	0.89	4.71	2.38	0.29361	.	0.525801	0.18280	N	0.146052	T	0.30541	0.0768	N	0.22421	0.69	0.09310	N	1	D	0.57571	0.98	P	0.45794	0.493	T	0.09509	-1.0671	10	0.48119	T	0.1	-12.0249	8.9434	0.35745	0.8997:0.0:0.1003:0.0	.	85	P10124	SRGN_HUMAN	H	85	ENSP00000242465:R85H	ENSP00000242465:R85H	R	+	2	0	SRGN	70533659	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	0.593000	0.23999	0.284000	0.22305	-1.212000	0.01626	CGT	SRGN	-	pfam_Serglycin	ENSG00000122862		0.438	SRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGN	HGNC	protein_coding	OTTHUMT00000048379.1	235	0.00	0	G	NM_002727		70863653	70863653	+1	no_errors	ENST00000242465	ensembl	human	known	69_37n	missense	141	16.07	27	SNP	0.005	A
SORCS1	114815	genome.wustl.edu	37	10	108380241	108380241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr10:108380241C>T	ENST00000263054.6	-	20	2748	c.2741G>A	c.(2740-2742)tGg>tAg	p.W914*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.W914*|SORCS1_ENST00000478809.2_5'Flank|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.W449*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	914					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTGGCTGGGCCACAGCACTGC	0.547																																						dbGAP											0													171.0	137.0	149.0					10																	108380241		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2741G>A	10.37:g.108380241C>T	ENSP00000263054:p.Trp914*		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.W914*	ENST00000263054.6	37	c.2741	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	40	8.024023	0.98616	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.75	5.75	0.90469	.	0.141066	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.1111	19.9549	0.97216	0.0:1.0:0.0:0.0	.	.	.	.	X	449;914;914	.	.	W	-	2	0	SORCS1	108370231	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.622000	0.54217	2.714000	0.92807	0.655000	0.94253	TGG	SORCS1	-	superfamily_PKD_dom	ENSG00000108018		0.547	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	88	0.00	0	C	NM_052918		108380241	108380241	-1	no_errors	ENST00000344440	ensembl	human	known	69_37n	nonsense	61	20.78	16	SNP	1.000	T
SYT10	341359	genome.wustl.edu	37	12	33538115	33538115	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr12:33538115C>T	ENST00000228567.3	-	4	1485	c.1189G>A	c.(1189-1191)Ggc>Agc	p.G397S	SYT10_ENST00000535526.1_Missense_Mutation_p.G216S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	397	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCTGATGAGCCAGTAATATCC	0.408																																						dbGAP											0													157.0	133.0	141.0					12																	33538115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1189G>A	12.37:g.33538115C>T	ENSP00000228567:p.Gly397Ser		Q495U2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.G397S	ENST00000228567.3	37	c.1189	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.063499	0.93898	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.75704	-0.96;-0.96	4.6	4.6	0.57074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.41938	U	0.000787	D	0.85465	0.5703	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87339	0.2330	10	0.87932	D	0	.	17.2903	0.87154	0.0:1.0:0.0:0.0	.	397	Q6XYQ8	SYT10_HUMAN	S	397;216	ENSP00000228567:G397S;ENSP00000438691:G216S	ENSP00000228567:G397S	G	-	1	0	SYT10	33429382	1.000000	0.71417	0.926000	0.36857	0.968000	0.65278	7.165000	0.77544	2.490000	0.84030	0.557000	0.71058	GGC	SYT10	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000110975		0.408	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	318	0.00	0	C	NM_198992		33538115	33538115	-1	no_errors	ENST00000228567	ensembl	human	known	69_37n	missense	266	15.56	49	SNP	1.000	T
TACC2	10579	genome.wustl.edu	37	10	123845245	123845245	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr10:123845245C>T	ENST00000369005.1	+	4	3570	c.3230C>T	c.(3229-3231)cCa>cTa	p.P1077L	TACC2_ENST00000515273.1_Missense_Mutation_p.P1077L|TACC2_ENST00000334433.3_Missense_Mutation_p.P1077L|TACC2_ENST00000515603.1_Missense_Mutation_p.P1077L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P1077L|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1077					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGGATGCCCCAGAGACAGAG	0.642																																						dbGAP											0													44.0	52.0	50.0					10																	123845245		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3230C>T	10.37:g.123845245C>T	ENSP00000358001:p.Pro1077Leu		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.P1077L	ENST00000369005.1	37	c.3230	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	C	10.66	1.411987	0.25465	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03301	4.03;4.0;3.98;4.03;4.0	5.38	4.47	0.54385	.	0.292433	0.18858	N	0.129204	T	0.02304	0.0071	N	0.14661	0.345	0.34351	D	0.689885	P;P;P	0.35050	0.482;0.482;0.482	B;B;B	0.30029	0.11;0.11;0.11	T	0.52601	-0.8554	10	0.17832	T	0.49	-2.9701	10.2937	0.43612	0.0:0.9062:0.0:0.0938	.	1077;1077;1077	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	L	1077;1077;1077;1077;1077;1067	ENSP00000358001:P1077L;ENSP00000424467:P1077L;ENSP00000427618:P1077L;ENSP00000334280:P1077L;ENSP00000395048:P1077L	ENSP00000334280:P1077L	P	+	2	0	TACC2	123835235	0.032000	0.19561	0.433000	0.26760	0.765000	0.43378	0.909000	0.28558	1.249000	0.43950	0.549000	0.68633	CCA	TACC2	-	NULL	ENSG00000138162		0.642	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	63	0.00	0	C			123845245	123845245	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	missense	55	12.70	8	SNP	0.693	T
TUB	7275	genome.wustl.edu	37	11	8122413	8122413	+	Missense_Mutation	SNP	C	C	T	rs184649891	byFrequency	TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr11:8122413C>T	ENST00000299506.2	+	11	1405	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	TUB_ENST00000305253.4_Missense_Mutation_p.T474M|TUB_ENST00000534099.1_Missense_Mutation_p.T425M	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	419					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AATAAGAACACGGAGAGTATC	0.562													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20596	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													153.0	135.0	141.0					11																	8122413		2201	4296	6497	-	-	-	SO:0001583	missense	0			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1256C>T	11.37:g.8122413C>T	ENSP00000299506:p.Thr419Met		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.T474M	ENST00000299506.2	37	c.1421	CCDS7787.1	11	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	8.745	0.919871	0.17982	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.96232	-3.95;-3.95;-3.95	5.19	5.19	0.71726	Tubby, C-terminal (3);	0.044394	0.85682	D	0.000000	D	0.89396	0.6703	N	0.04820	-0.15	0.80722	D	1	B;B;B	0.26120	0.104;0.093;0.142	B;B;B	0.22601	0.04;0.022;0.023	D	0.86477	0.1789	10	0.05620	T	0.96	-12.2626	19.0496	0.93038	0.0:1.0:0.0:0.0	.	425;419;474	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	M	425;474;419	ENSP00000434400:T425M;ENSP00000305426:T474M;ENSP00000299506:T419M	ENSP00000299506:T419M	T	+	2	0	TUB	8078989	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	4.039000	0.57325	2.593000	0.87608	0.655000	0.94253	ACG	TUB	-	pfam_Tubby_C,superfamily_Tubby_C-like	ENSG00000166402		0.562	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	165	0.00	0	C	NM_003320		8122413	8122413	+1	no_errors	ENST00000305253	ensembl	human	known	69_37n	missense	177	11.94	24	SNP	1.000	T
TTC9C	283237	genome.wustl.edu	37	11	62502958	62502958	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr11:62502958G>A	ENST00000316461.4	+	2	653	c.343G>A	c.(343-345)Gga>Aga	p.G115R	TTC9C_ENST00000532583.1_Missense_Mutation_p.G115R|TTC9C_ENST00000513247.2_3'UTR	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	115										breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						GTATCGGGCCGGAGTGGCCTT	0.527																																						dbGAP											0													72.0	59.0	64.0					11																	62502958		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"""Tetratricopeptide (TTC) repeat domain containing"""	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.343G>A	11.37:g.62502958G>A	ENSP00000325266:p.Gly115Arg		Q8WYY7	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G115R	ENST00000316461.4	37	c.343	CCDS8033.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.080155	0.94050	.	.	ENSG00000162222	ENST00000530625;ENST00000316461;ENST00000532583;ENST00000532276	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	6.04	6.04	0.98038	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	D	0.98295	0.9435	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98934	1.0788	9	0.72032	D	0.01	.	18.0887	0.89466	0.0:0.0:1.0:0.0	.	115	Q8N5M4	TTC9C_HUMAN	R	115;115;115;13	ENSP00000435282:G115R;ENSP00000325266:G115R;ENSP00000434340:G115R;ENSP00000434137:G13R	ENSP00000325266:G115R	G	+	1	0	TTC9C	62259534	1.000000	0.71417	0.993000	0.49108	0.731000	0.41821	8.852000	0.92215	2.873000	0.98535	0.563000	0.77884	GGA	TTC9C	-	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000162222		0.527	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC9C	HGNC	protein_coding	OTTHUMT00000395338.1	97	0.00	0	G	NM_173810		62502958	62502958	+1	no_errors	ENST00000316461	ensembl	human	known	69_37n	missense	74	14.94	13	SNP	1.000	A
WIZ	58525	genome.wustl.edu	37	19	15559079	15559079	+	Missense_Mutation	SNP	G	G	C	rs573729299	byFrequency	TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr19:15559079G>C	ENST00000389282.4	-	2	253	c.40C>G	c.(40-42)Cgt>Ggt	p.R14G	WIZ_ENST00000263381.7_Missense_Mutation_p.R14G|MIR1470_ENST00000600745.1_RNA			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	14					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCTTGGGGACGATCTGGTGCA	0.657																																						dbGAP											0													40.0	44.0	43.0					19																	15559079		1920	4125	6045	-	-	-	SO:0001583	missense	0			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.40C>G	19.37:g.15559079G>C	ENSP00000373933:p.Arg14Gly		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R14G	ENST00000389282.4	37	c.40		19	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910780	0.33721	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.03553	3.89	3.12	2.03	0.26663	.	.	.	.	.	T	0.03390	0.0098	.	.	.	0.44469	D	0.997404	B	0.02656	0.0	B	0.04013	0.001	T	0.42172	-0.9467	8	0.45353	T	0.12	-5.0466	8.0786	0.30731	0.0:0.2503:0.7497:0.0	.	14	O95785-2	.	G	14	ENSP00000373933:R14G	ENSP00000263381:R14G	R	-	1	0	WIZ	15420079	0.373000	0.25073	0.629000	0.29254	0.322000	0.28314	2.589000	0.46145	0.837000	0.34925	0.561000	0.74099	CGT	WIZ	-	NULL	ENSG00000011451		0.657	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		18	0.00	0	G	NM_021241		15559079	15559079	-1	no_errors	ENST00000389282	ensembl	human	known	69_37n	missense	4	73.33	11	SNP	0.658	C
WNK3	65267	genome.wustl.edu	37	X	54224848	54224848	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chrX:54224848G>A	ENST00000375159.2	-	23	5311	c.5312C>T	c.(5311-5313)tCt>tTt	p.S1771F	WNK3_ENST00000354646.2_Missense_Mutation_p.S1771F|WNK3_ENST00000375169.3_Missense_Mutation_p.S1714F			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1771					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGGTCCCCCAGATTGGGCGGG	0.493																																						dbGAP											0													85.0	71.0	76.0					X																	54224848		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.5312C>T	X.37:g.54224848G>A	ENSP00000364301:p.Ser1771Phe		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1771F	ENST00000375159.2	37	c.5312	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694379	0.48202	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.33865	1.39;1.39;1.39	5.45	4.58	0.56647	.	0.932048	0.09012	N	0.861371	T	0.35624	0.0938	N	0.24115	0.695	0.21675	N	0.999599	P;P	0.48016	0.904;0.845	P;B	0.51135	0.66;0.365	T	0.18429	-1.0337	10	0.72032	D	0.01	0.0155	7.8229	0.29298	0.0877:0.0:0.7538:0.1585	.	1714;1771	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	F	1714;1771;1771	ENSP00000364312:S1714F;ENSP00000346667:S1771F;ENSP00000364301:S1771F	ENSP00000346667:S1771F	S	-	2	0	WNK3	54241573	0.970000	0.33590	0.947000	0.38551	0.988000	0.76386	2.508000	0.45450	2.273000	0.75805	0.513000	0.50165	TCT	WNK3	-	NULL	ENSG00000196632		0.493	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	304	0.00	0	G	NM_020922		54224848	54224848	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	missense	229	24.84	76	SNP	0.693	A
ZAK	51776	genome.wustl.edu	37	2	174131293	174131293	+	Missense_Mutation	SNP	C	C	T	rs56202258		TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr2:174131293C>T	ENST00000375213.3	+	20	2296	c.2218C>T	c.(2218-2220)Ccc>Tcc	p.P740S	MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.P740S	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		740			P -> T (in dbSNP:rs56202258). {ECO:0000269|PubMed:17344846}.		activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CCTCCACCAACCCAACACCAT	0.527																																						dbGAP											0													59.0	63.0	62.0					2																	174131293		1936	4132	6068	-	-	-	SO:0001583	missense	0																														ENST00000375213.3:c.2218C>T	2.37:g.174131293C>T	ENSP00000364361:p.Pro740Ser		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P740S	ENST00000375213.3	37	c.2218	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936797	0.34189	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.74315	-0.83;-0.83	5.94	3.13	0.36017	.	0.111376	0.64402	N	0.000007	T	0.60340	0.2261	L	0.32530	0.975	0.80722	D	1	B	0.21071	0.051	B	0.16722	0.016	T	0.57183	-0.7855	10	0.62326	D	0.03	.	6.9201	0.24383	0.2451:0.6249:0.0:0.13	.	740	Q9NYL2	MLTK_HUMAN	S	740	ENSP00000387259:P740S;ENSP00000364361:P740S	ENSP00000364361:P740S	P	+	1	0	AC013461.1	173839539	0.653000	0.27358	0.505000	0.27651	0.561000	0.35649	1.805000	0.38883	0.827000	0.34685	0.591000	0.81541	CCC	AC013461.1	-	NULL	ENSG00000091436		0.527	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Clone_based_vega_gene	protein_coding	OTTHUMT00000255401.1	92	0.00	0	C			174131293	174131293	+1	no_errors	ENST00000375213	ensembl	human	known	69_37n	missense	61	11.59	8	SNP	0.695	T
ZNF10	7556	genome.wustl.edu	37	12	133733175	133733175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr12:133733175delT	ENST00000248211.6	+	5	1565	c.1343delT	c.(1342-1344)cttfs	p.L448fs	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Frame_Shift_Del_p.L448fs|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Frame_Shift_Del_p.L314fs	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	448					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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGCTCTCACCTTTATTCACAT	0.413																																						dbGAP											0													104.0	110.0	108.0					12																	133733175		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1343delT	12.37:g.133733175delT	ENSP00000248211:p.Leu448fs		B2RBS1|Q8TC91	Frame_Shift_Del	DEL	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.Y449fs	ENST00000248211.6	37	c.1343	CCDS9283.1	12																																																																																			ZNF10	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256223		0.413	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF10	HGNC	protein_coding	OTTHUMT00000397182.1	238	0.00	0	T	NM_015394		133733175	133733175	+1	no_errors	ENST00000248211	ensembl	human	known	69_37n	frame_shift_del	138	37.56	83	DEL	0.989	-
ZNF214	7761	genome.wustl.edu	37	11	7021109	7021109	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15A-01A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b7e3eff1-65d5-491f-a726-35dc6752b370	e33c2754-8dec-4bab-b626-1886a5756536	g.chr11:7021109C>A	ENST00000278314.4	-	3	2120	c.1805G>T	c.(1804-1806)aGa>aTa	p.R602I	ZNF214_ENST00000536068.1_Missense_Mutation_p.R602I|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	602					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTTTCCTCTTCTATGATTATT	0.308																																					Ovarian(22;251 657 736 21522 46864)	dbGAP											0													43.0	47.0	46.0					11																	7021109		2200	4290	6490	-	-	-	SO:0001583	missense	0			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1805G>T	11.37:g.7021109C>A	ENSP00000278314:p.Arg602Ile		B2R8Q1	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.R602I	ENST00000278314.4	37	c.1805	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	C	4.621	0.115484	0.08831	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.07021	3.23;3.23	4.15	1.23	0.21249	.	1.557880	0.03798	N	0.263908	T	0.05777	0.0151	N	0.13043	0.29	0.27138	N	0.961714	B	0.28233	0.204	B	0.25614	0.062	T	0.35674	-0.9779	10	0.66056	D	0.02	.	3.7981	0.08747	0.0:0.5142:0.1839:0.3019	.	602	Q9UL59	ZN214_HUMAN	I	602	ENSP00000278314:R602I;ENSP00000445373:R602I	ENSP00000278314:R602I	R	-	2	0	ZNF214	6977685	0.000000	0.05858	0.001000	0.08648	0.246000	0.25737	0.124000	0.15728	0.289000	0.22422	0.555000	0.69702	AGA	ZNF214	-	NULL	ENSG00000149050		0.308	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1	244	0.41	1	C			7021109	7021109	-1	no_errors	ENST00000278314	ensembl	human	known	69_37n	missense	209	11.06	26	SNP	0.460	A
