#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
CCDC87	55231	genome.wustl.edu	37	11	66359044	66359044	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr11:66359044C>A	ENST00000333861.3	-	1	1510	c.1443G>T	c.(1441-1443)atG>atT	p.M481I	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	481					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TATCAATATCCATTTTTTCAA	0.458																																						dbGAP											0													100.0	100.0	100.0					11																	66359044		2200	4295	6495	-	-	-	SO:0001583	missense	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1443G>T	11.37:g.66359044C>A	ENSP00000328487:p.Met481Ile		Q8NE76	Missense_Mutation	SNP	pfam_Microtubule-assoc_MAP65_ASE1	p.M481I	ENST00000333861.3	37	c.1443	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872617	0.33069	.	.	ENSG00000182791	ENST00000333861	T	0.33865	1.39	5.3	4.37	0.52481	.	0.145674	0.33272	N	0.005087	T	0.38665	0.1049	M	0.68317	2.08	0.38414	D	0.945991	P	0.47034	0.889	B	0.44224	0.444	T	0.42103	-0.9471	10	0.56958	D	0.05	.	9.9761	0.41783	0.0:0.9069:0.0:0.0931	.	481	Q9NVE4	CCD87_HUMAN	I	481	ENSP00000328487:M481I	ENSP00000328487:M481I	M	-	3	0	CCDC87	66115620	1.000000	0.71417	0.991000	0.47740	0.460000	0.32559	2.535000	0.45685	2.756000	0.94617	0.563000	0.77884	ATG	CCDC87	-	NULL	ENSG00000182791		0.458	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	17	0.00	0	C	NM_018219		66359044	66359044	-1	no_errors	ENST00000333861	ensembl	human	known	69_37n	missense	21	43.24	16	SNP	0.988	A
CRLS1	54675	genome.wustl.edu	37	20	6017787	6017787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr20:6017787C>T	ENST00000378863.4	+	7	1046	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	CRLS1_ENST00000378868.4_Nonsense_Mutation_p.Q198*|CRLS1_ENST00000452938.1_3'UTR	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	297					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			lung(3)|ovary(1)	4						GAAGACTGTTCAGGTGATAAA	0.398																																						dbGAP											0													113.0	106.0	109.0					20																	6017787		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"""GCD10 homolog (S. cerevisiae)"""	608188	"""chromosome 20 open reading frame 155"""	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	ENST00000378863.4:c.889C>T	20.37:g.6017787C>T	ENSP00000368140:p.Gln297*		D3DW09|E9PAT4|Q27RP0|Q69YQ5	Nonsense_Mutation	SNP	pfam_CDP-OH_P_trans	p.Q297*	ENST00000378863.4	37	c.889	CCDS13096.1	20	.	.	.	.	.	.	.	.	.	.	C	32	5.128497	0.94473	.	.	ENSG00000088766	ENST00000378863;ENST00000378868	.	.	.	5.68	5.68	0.88126	.	0.376325	0.31922	N	0.006849	.	.	.	.	.	.	0.50039	D	0.99984	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.2456	12.2598	0.54645	0.1696:0.8304:0.0:0.0	.	.	.	.	X	297;198	.	ENSP00000368140:Q297X	Q	+	1	0	CRLS1	5965787	0.997000	0.39634	1.000000	0.80357	0.974000	0.67602	2.582000	0.46085	2.680000	0.91292	0.655000	0.94253	CAG	CRLS1	-	NULL	ENSG00000088766		0.398	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLS1	HGNC	protein_coding	OTTHUMT00000077902.2	54	0.00	0	C	NM_019095		6017787	6017787	+1	no_errors	ENST00000378863	ensembl	human	known	69_37n	nonsense	19	60.42	29	SNP	1.000	T
DYNC2H1	79659	genome.wustl.edu	37	11	103090738	103090738	+	Missense_Mutation	SNP	A	A	T			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr11:103090738A>T	ENST00000375735.2	+	56	9071	c.8927A>T	c.(8926-8928)gAt>gTt	p.D2976V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D2976V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2976	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAAATTGATGATGAATTAAAA	0.269																																						dbGAP											0													23.0	23.0	23.0					11																	103090738		1770	4019	5789	-	-	-	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8927A>T	11.37:g.103090738A>T	ENSP00000364887:p.Asp2976Val		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D2976V	ENST00000375735.2	37	c.8927	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441278	0.43326	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74632	-0.86;-0.86	5.81	5.81	0.92471	Dynein heavy chain, coiled coil stalk (1);	0.075866	0.49916	U	0.000132	T	0.63570	0.2522	N	0.21448	0.665	0.80722	D	1	B;B	0.21821	0.061;0.05	B;B	0.25759	0.063;0.037	T	0.59075	-0.7522	10	0.31617	T	0.26	.	15.2791	0.73767	1.0:0.0:0.0:0.0	.	2976;2976	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	V	2976	ENSP00000364887:D2976V;ENSP00000381167:D2976V	ENSP00000364887:D2976V	D	+	2	0	DYNC2H1	102595948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.960000	0.63673	2.343000	0.79666	0.533000	0.62120	GAT	DYNC2H1	-	NULL	ENSG00000187240		0.269	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	30	0.00	0	A	XM_370652		103090738	103090738	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	missense	2	88.24	15	SNP	1.000	T
EFNB3	1949	genome.wustl.edu	37	17	7611493	7611493	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr17:7611493A>G	ENST00000226091.2	+	2	737	c.340A>G	c.(340-342)Acc>Gcc	p.T114A		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	114	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TCTCCGCTTCACCATCAAGTT	0.592																																						dbGAP											0													70.0	68.0	69.0					17																	7611493		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.340A>G	17.37:g.7611493A>G	ENSP00000226091:p.Thr114Ala		B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.T114A	ENST00000226091.2	37	c.340	CCDS11120.1	17	.	.	.	.	.	.	.	.	.	.	a	22.8	4.331548	0.81690	.	.	ENSG00000108947	ENST00000226091	D	0.92858	-3.12	4.85	4.85	0.62838	Ephrin, conserved site (1);Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	M	0.81682	2.555	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.96244	0.9178	10	0.87932	D	0	-9.2904	13.5391	0.61664	1.0:0.0:0.0:0.0	.	114	Q15768	EFNB3_HUMAN	A	114	ENSP00000226091:T114A	ENSP00000226091:T114A	T	+	1	0	EFNB3	7552218	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.650000	0.91073	2.027000	0.59764	0.387000	0.25754	ACC	EFNB3	-	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	ENSG00000108947		0.592	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB3	HGNC	protein_coding	OTTHUMT00000226965.1	8	0.00	0	A	NM_001406		7611493	7611493	+1	no_errors	ENST00000226091	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	1.000	G
FBXW10	10517	genome.wustl.edu	37	17	18682399	18682399	+	Missense_Mutation	SNP	A	A	G	rs1318979	byFrequency	TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr17:18682399A>G	ENST00000395665.4	+	14	3168	c.2947A>G	c.(2947-2949)Act>Gct	p.T983A	TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.T982A|FBXW10_ENST00000301938.4_Missense_Mutation_p.T930A|TVP23B_ENST00000476139.1_5'Flank|FBXW10_ENST00000308799.4_Missense_Mutation_p.T992A|TVP23B_ENST00000574226.1_5'Flank			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	983								p.T982A(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TAGAGTGAACACTGAGTTCGT	0.527																																						dbGAP											1	Substitution - Missense(1)	skin(1)											61.0	55.0	57.0					17																	18682399		2015	3877	5892	-	-	-	SO:0001583	missense	0			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2947A>G	17.37:g.18682399A>G	ENSP00000379025:p.Thr983Ala		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T992A	ENST00000395665.4	37	c.2974	CCDS11199.3	17	409	0.18727106227106227	97	0.19715447154471544	81	0.22375690607734808	71	0.12412587412587413	160	0.21108179419525067	A	10.59	1.393102	0.25118	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	3.38	3.38	0.38709	.	0.586804	0.12753	U	0.441979	T	0.00210	0.0006	M	0.61703	1.905	0.47276	P	6.270000000000442E-4	D;D;D;D	0.71674	0.99;0.998;0.984;0.998	D;D;D;D	0.80764	0.98;0.994;0.956;0.994	T	0.05273	-1.0895	9	0.35671	T	0.21	.	9.7578	0.40513	1.0:0.0:0.0:0.0	.	930;992;983;982	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	982;992;930;983	ENSP00000379026:T982A;ENSP00000310382:T992A;ENSP00000306937:T930A;ENSP00000379025:T983A	ENSP00000306937:T930A	T	+	1	0	FBXW10	18623124	0.422000	0.25473	0.559000	0.28332	0.113000	0.19764	1.755000	0.38379	1.381000	0.46364	0.338000	0.21704	ACT	FBXW10	-	NULL	ENSG00000171931		0.527	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	31	0.00	0	A	NM_031456		18682399	18682399	+1	no_errors	ENST00000308799	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	0.609	G
GARS	2617	genome.wustl.edu	37	7	30662033	30662033	+	Missense_Mutation	SNP	A	A	T			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr7:30662033A>T	ENST00000389266.3	+	12	1809	c.1568A>T	c.(1567-1569)gAt>gTt	p.D523V		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	523					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GCCATTTGTGATGAGTGCTAC	0.418																																						dbGAP											0													220.0	206.0	211.0					7																	30662033		1949	4154	6103	-	-	-	SO:0001583	missense	0			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1568A>T	7.37:g.30662033A>T	ENSP00000373918:p.Asp523Val		B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,prints_tRNA-synt_gly,tigrfam_tRNA-synt_gly	p.D523V	ENST00000389266.3	37	c.1568	CCDS43564.1	7	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636614	0.67130	.	.	ENSG00000106105	ENST00000389266	D	0.86297	-2.1	5.65	5.65	0.86999	Aminoacyl-tRNA synthetase, class II (1);	0.087629	0.85682	D	0.000000	D	0.88343	0.6411	M	0.86864	2.845	0.80722	D	1	B	0.30511	0.282	B	0.26202	0.067	D	0.87775	0.2608	10	0.56958	D	0.05	-13.169	14.133	0.65268	1.0:0.0:0.0:0.0	.	523	P41250	SYG_HUMAN	V	523	ENSP00000373918:D523V	ENSP00000373918:D523V	D	+	2	0	GARS	30628558	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.296000	0.96104	2.288000	0.76882	0.533000	0.62120	GAT	GARS	-	pfscan_aa-tRNA-synth_II,tigrfam_tRNA-synt_gly	ENSG00000106105		0.418	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GARS	HGNC	protein_coding	OTTHUMT00000327735.1	41	0.00	0	A	NM_002047		30662033	30662033	+1	no_errors	ENST00000389266	ensembl	human	known	69_37n	missense	37	46.38	32	SNP	1.000	T
GATA3	2625	genome.wustl.edu	37	10	8115871	8115872	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr10:8115871_8115872delTC	ENST00000346208.3	+	6	1672_1673	c.1217_1218delTC	c.(1216-1218)atcfs	p.I406fs	GATA3_ENST00000379328.3_Frame_Shift_Del_p.I407fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	406					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTGAGCCACATCTCGCCCTTCA	0.589			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0			GRCh37	CI071440	GATA3	I																																				-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1217_1218delTC	10.37:g.8115873_8115874delTC	ENSP00000341619:p.Ile406fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S408fs	ENST00000346208.3	37	c.1220_1221	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.589	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	40	0.00	0	TC	NM_001002295		8115871	8115872	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	32	40.74	22	DEL	1.000:0.767	-
IFT140	9742	genome.wustl.edu	37	16	1575310	1575310	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr16:1575310G>A	ENST00000426508.2	-	22	3149	c.2786C>T	c.(2785-2787)aCg>aTg	p.T929M	IFT140_ENST00000361339.5_Missense_Mutation_p.T123M	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	929					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GAAGCGGTGCGTGTCCGACTT	0.622																																						dbGAP											0													82.0	79.0	80.0					16																	1575310		2199	4300	6499	-	-	-	SO:0001583	missense	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2786C>T	16.37:g.1575310G>A	ENSP00000406012:p.Thr929Met		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T929M	ENST00000426508.2	37	c.2786	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773781	0.69992	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.63417	-0.04;-0.04	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.83101	0.5181	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.83641	0.0150	10	0.35671	T	0.21	.	19.0489	0.93034	0.0:0.0:1.0:0.0	.	929;616	Q96RY7;B4DR58	IF140_HUMAN;.	M	929;123;929	ENSP00000354895:T123M;ENSP00000406012:T929M	ENSP00000354895:T123M	T	-	2	0	IFT140	1515311	1.000000	0.71417	0.928000	0.36995	0.179000	0.23085	9.781000	0.99029	2.522000	0.85027	0.655000	0.94253	ACG	IFT140	-	NULL	ENSG00000187535		0.622	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	12	0.00	0	G	NM_014714		1575310	1575310	-1	no_errors	ENST00000426508	ensembl	human	known	69_37n	missense	8	50.00	8	SNP	1.000	A
LILRA6	79168	genome.wustl.edu	37	19	54746380	54746380	+	Missense_Mutation	SNP	C	C	T	rs150628522	byFrequency	TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr19:54746380C>T	ENST00000396365.2	-	2	100	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	LILRB3_ENST00000407860.2_Missense_Mutation_p.V21M|LILRA6_ENST00000245621.5_Missense_Mutation_p.V21M|LILRA6_ENST00000270464.5_Missense_Mutation_p.V21M|LILRA6_ENST00000419410.2_Missense_Mutation_p.V21M|LILRA6_ENST00000440558.2_Missense_Mutation_p.V21M|LILRA6_ENST00000391735.3_Missense_Mutation_p.V21M	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	21					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGCCTGCACGCGGGTCCTG	0.657																																						dbGAP											0													5.0	6.0	6.0					19																	54746380		1873	3940	5813	-	-	-	SO:0001583	missense	0			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.61G>A	19.37:g.54746380C>T	ENSP00000379651:p.Val21Met			Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V21M	ENST00000396365.2	37	c.61	CCDS42610.1	19	.	.	.	.	.	.	.	.	.	.	C	9.815	1.184124	0.21870	.	.	ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T;T	0.00523	7.02;7.06;7.06;7.09;6.83;6.91;6.83	3.4	1.18	0.20946	Immunoglobulin-like fold (1);	0.896200	0.09207	N	0.833786	T	0.00998	0.0033	M	0.69823	2.125	0.80722	P	0.0	D;D;P;P;P;D;P;P;D;D	0.71674	0.983;0.964;0.826;0.78;0.801;0.989;0.927;0.954;0.971;0.998	P;P;B;B;P;P;B;B;P;P	0.58391	0.546;0.597;0.284;0.185;0.475;0.581;0.342;0.284;0.674;0.838	T	0.48456	-0.9034	9	0.52906	T	0.07	.	3.693	0.08353	0.0:0.545:0.2077:0.2473	.	21;21;21;21;21;21;21;21;21;21	C9JFH3;Q6PI73-2;B5MCX0;B5ME96;Q6PI73;F8WCY4;F8WD89;D3YTC4;F8W6G6;O75022-2	.;.;.;.;LIRA6_HUMAN;.;.;.;.;.	M	21	ENSP00000384274:V21M;ENSP00000390120:V21M;ENSP00000270464:V21M;ENSP00000411227:V21M;ENSP00000375615:V21M;ENSP00000379651:V21M;ENSP00000245621:V21M	ENSP00000245621:V21M	V	-	1	0	LILRB3;LILRA6	59438192	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.138000	0.16016	0.266000	0.21894	0.184000	0.17185	GTG	LILRB3	-	NULL	ENSG00000204577		0.657	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000313725.1	13	0.00	0	C	NM_024318		54746380	54746380	-1	no_errors	ENST00000407860	ensembl	human	known	69_37n	missense	36	29.41	15	SNP	0.000	T
LRP1B	53353	genome.wustl.edu	37	2	141259275	141259275	+	Missense_Mutation	SNP	T	T	G			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr2:141259275T>G	ENST00000389484.3	-	55	9802	c.8831A>C	c.(8830-8832)gAc>gCc	p.D2944A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2944	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACCGGAAGGTCTTGACAGTC	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													112.0	115.0	114.0					2																	141259275		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8831A>C	2.37:g.141259275T>G	ENSP00000374135:p.Asp2944Ala		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D2944A	ENST00000389484.3	37	c.8831	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407392	0.83230	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88277	-2.36	5.41	5.41	0.78517	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.000000	0.85682	U	0.000000	D	0.94857	0.8338	M	0.86953	2.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.94576	0.7775	10	0.39692	T	0.17	.	15.729	0.77788	0.0:0.0:0.0:1.0	.	2944	Q9NZR2	LRP1B_HUMAN	A	2944;2882	ENSP00000374135:D2944A	ENSP00000374135:D2944A	D	-	2	0	LRP1B	140975745	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.945000	0.87732	2.183000	0.69458	0.477000	0.44152	GAC	LRP1B	-	superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000168702		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	57	0.00	0	T	NM_018557		141259275	141259275	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	13	78.46	51	SNP	1.000	G
NRCAM	4897	genome.wustl.edu	37	7	107823285	107823285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr7:107823285C>T	ENST00000425651.2	-	20	2383	c.2384G>A	c.(2383-2385)tGg>tAg	p.W795*	NRCAM_ENST00000413765.2_Nonsense_Mutation_p.W776*|NRCAM_ENST00000379028.3_Nonsense_Mutation_p.W795*|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.W776*|NRCAM_ENST00000351718.4_Nonsense_Mutation_p.W779*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.W795*	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	795	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CACAGATGTCCATTCATCATC	0.458																																						dbGAP											0													111.0	107.0	108.0					7																	107823285		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2384G>A	7.37:g.107823285C>T	ENSP00000401244:p.Trp795*		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.W795*	ENST00000425651.2	37	c.2384	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	44	11.189548	0.99528	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	.	.	.	X	795;795;776;795;779;776;795;795	.	ENSP00000325269:W779X	W	-	2	0	NRCAM	107610521	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.814000	0.86154	2.790000	0.95986	0.650000	0.86243	TGG	NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000091129		0.458	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	28	0.00	0	C	NM_001037132		107823285	107823285	-1	no_errors	ENST00000379028	ensembl	human	known	69_37n	nonsense	39	27.78	15	SNP	1.000	T
PLCG1	5335	genome.wustl.edu	37	20	39795424	39795424	+	Silent	SNP	G	G	A			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr20:39795424G>A	ENST00000373271.1	+	19	2631	c.2226G>A	c.(2224-2226)gaG>gaA	p.E742E	PLCG1_ENST00000373272.2_Silent_p.E742E|PLCG1_ENST00000244007.3_Silent_p.E742E	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	742	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCTACTATGAGAAACACCCGC	0.557																																						dbGAP											0													133.0	121.0	125.0					20																	39795424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2226G>A	20.37:g.39795424G>A			B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.E742	ENST00000373271.1	37	c.2226	CCDS13314.1	20																																																																																			PLCG1	-	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2,prints_SH2	ENSG00000124181		0.557	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	40	0.00	0	G	NM_182811		39795424	39795424	+1	no_errors	ENST00000244007	ensembl	human	known	69_37n	silent	87	40.41	59	SNP	1.000	A
SAMSN1	64092	genome.wustl.edu	37	21	15870837	15870837	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr21:15870837A>G	ENST00000400566.1	-	7	926	c.845T>C	c.(844-846)aTt>aCt	p.I282T	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000285670.2_Missense_Mutation_p.I350T|SAMSN1_ENST00000400564.1_Missense_Mutation_p.I114T	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	282	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATTTAATTCAATGAGGTGACT	0.343																																						dbGAP											0													97.0	86.0	89.0					21																	15870837		1809	4062	5871	-	-	-	SO:0001583	missense	0			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.845T>C	21.37:g.15870837A>G	ENSP00000383411:p.Ile282Thr		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.I282T	ENST00000400566.1	37	c.845	CCDS42906.1	21	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765962	0.49574	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	D;D;D	0.84660	-1.88;-1.88;-1.88	6.04	6.04	0.98038	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.306446	0.40222	N	0.001142	D	0.87111	0.6096	M	0.77616	2.38	0.40493	D	0.980561	P;P;P	0.49783	0.897;0.873;0.928	P;P;P	0.49361	0.571;0.466;0.608	D	0.85374	0.1115	10	0.20046	T	0.44	-12.4663	11.641	0.51233	0.8675:0.0:0.0:0.1325	.	114;350;282	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	T	350;282;114	ENSP00000285670:I350T;ENSP00000383411:I282T;ENSP00000383409:I114T	ENSP00000285670:I350T	I	-	2	0	SAMSN1	14792708	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.965000	0.49200	2.317000	0.78254	0.460000	0.39030	ATT	SAMSN1	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000155307		0.343	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMSN1	HGNC	protein_coding	OTTHUMT00000157914.1	85	0.00	0	A			15870837	15870837	-1	no_errors	ENST00000400566	ensembl	human	known	69_37n	missense	57	44.66	46	SNP	1.000	G
NUDT5	11164	genome.wustl.edu	37	10	12209886	12209886	+	Intron	SNP	G	G	A			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr10:12209886G>A	ENST00000491614.1	-	10	946				NUDT5_ENST00000378952.3_Intron|SEC61A2_ENST00000304267.8_Intron|NUDT5_ENST00000537776.1_Intron|SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000378937.3_Intron			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5						D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CAGTGTTTGCGCAGCAGGTAC	0.378																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.551-76C>T	10.37:g.12209886G>A			A8K516|Q6IAG0|Q9UH49	RNA	SNP	-	NULL	ENST00000491614.1	37	NULL	CCDS7089.1	10																																																																																			SEC61A2	-	-	ENSG00000065665		0.378	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046811.1	21	0.00	0	G			12209886	12209886	+1	no_errors	ENST00000495368	ensembl	human	known	69_37n	rna	18	48.57	17	SNP	0.000	A
SERPING1	710	genome.wustl.edu	37	11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr11:57365774_57365776delCTG	ENST00000278407.4	+	2	258_260	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_ENST00000403558.1_In_Frame_Del_p.L49del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714																																						dbGAP											0									,	70,4042		1,68,1987					,	0.6	1.0			7	176,7928		6,164,3882	no	coding,coding	SERPING1	NM_001032295.1,NM_000062.2	,	7,232,5869	A1A1,A1R,RR		2.1718,1.7023,2.0138	,	,		246,11970				-	-	-	SO:0001651	inframe_deletion	0			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.31_33delCTG	11.37:g.57365783_57365785delCTG	ENSP00000278407:p.Leu15del		A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	In_Frame_Del	DEL	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L14in_frame_del	ENST00000278407.4	37	c.31_33	CCDS7962.1	11																																																																																			SERPING1	-	NULL	ENSG00000149131		0.714	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	12	0.00	0	CTG	NM_000062		57365774	57365776	+1	no_errors	ENST00000278407	ensembl	human	known	69_37n	in_frame_del	4	33.33	2	DEL	1.000:1.000:1.000	-
SHROOM4	57477	genome.wustl.edu	37	X	50378351	50378351	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chrX:50378351C>T	ENST00000289292.7	-	4	1005	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R125Q|SHROOM4_ENST00000376020.2_Missense_Mutation_p.R241Q			Q9ULL8	SHRM4_HUMAN	shroom family member 4	241					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATTGGTGCGCCGACTACCTCC	0.642																																						dbGAP											0													16.0	14.0	15.0					X																	50378351		2201	4294	6495	-	-	-	SO:0001583	missense	0			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.722G>A	X.37:g.50378351C>T	ENSP00000289292:p.Arg241Gln		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R241Q	ENST00000289292.7	37	c.722	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	3.699	-0.061967	0.07317	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.13657	2.97;2.97;2.57	6.07	-0.864	0.10666	.	0.679288	0.14335	N	0.326117	T	0.05914	0.0154	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.40646	-0.9552	10	0.11794	T	0.64	.	1.6746	0.02819	0.1308:0.3743:0.1261:0.3688	.	241	Q9ULL8	SHRM4_HUMAN	Q	241;241;125	ENSP00000289292:R241Q;ENSP00000365188:R241Q;ENSP00000421450:R125Q	ENSP00000289292:R241Q	R	-	2	0	SHROOM4	50395091	0.000000	0.05858	0.019000	0.16419	0.532000	0.34746	-0.151000	0.10175	-0.303000	0.08856	-0.208000	0.12717	CGG	SHROOM4	-	NULL	ENSG00000158352		0.642	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	28	0.00	0	C	NM_020717		50378351	50378351	-1	no_errors	ENST00000289292	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	0.000	T
TMC2	117532	genome.wustl.edu	37	20	2591102	2591102	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr20:2591102C>A	ENST00000358864.1	+	12	1466	c.1451C>A	c.(1450-1452)cCc>cAc	p.P484H	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	484					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGTTTTGTCCCCCTCTGTTT	0.512																																						dbGAP											0													343.0	283.0	303.0					20																	2591102		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1451C>A	20.37:g.2591102C>A	ENSP00000351732:p.Pro484His		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.P484H	ENST00000358864.1	37	c.1451	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735895	0.89482	.	.	ENSG00000149488	ENST00000358864	D	0.91351	-2.83	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.95953	0.8682	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.999;0.997;0.996	D	0.96611	0.9452	10	0.87932	D	0	-18.6864	16.3221	0.82954	0.0:1.0:0.0:0.0	.	315;316;484;484	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	H	484	ENSP00000351732:P484H	ENSP00000351732:P484H	P	+	2	0	TMC2	2539102	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.757000	0.85209	2.514000	0.84764	0.650000	0.86243	CCC	TMC2	-	NULL	ENSG00000149488		0.512	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	63	0.00	0	C			2591102	2591102	+1	no_errors	ENST00000358864	ensembl	human	known	69_37n	missense	74	41.73	53	SNP	1.000	A
TUBB1	81027	genome.wustl.edu	37	20	57597974	57597974	+	Silent	SNP	G	G	A			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr20:57597974G>A	ENST00000217133.1	+	2	401	c.132G>A	c.(130-132)ctG>ctA	p.L44L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	44					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CCTTGCAGCTGGAGAGAATCA	0.597																																						dbGAP											0													61.0	54.0	56.0					20																	57597974		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.132G>A	20.37:g.57597974G>A				Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.L44	ENST00000217133.1	37	c.132	CCDS13475.1	20																																																																																			TUBB1	-	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Beta_tubulin	ENSG00000101162		0.597	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1	25	0.00	0	G	NM_030773		57597974	57597974	+1	no_errors	ENST00000217133	ensembl	human	known	69_37n	silent	279	14.68	48	SNP	1.000	A
TUBB1	81027	genome.wustl.edu	37	20	57598598	57598598	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr20:57598598G>A	ENST00000217133.1	+	3	489	c.220G>A	c.(220-222)Gac>Aac	p.D74N		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	74					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGGGACGATGGACAGCATTCG	0.468																																						dbGAP											0													152.0	150.0	150.0					20																	57598598		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.220G>A	20.37:g.57598598G>A	ENSP00000217133:p.Asp74Asn			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.D74N	ENST00000217133.1	37	c.220	CCDS13475.1	20	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958530	0.74016	.	.	ENSG00000101162	ENST00000217133	T	0.69306	-0.39	5.09	5.09	0.68999	Tubulin/FtsZ, GTPase domain (4);	0.089490	0.85682	D	0.000000	T	0.71821	0.3385	M	0.79343	2.45	0.80722	D	1	P	0.46621	0.881	B	0.43508	0.422	T	0.78516	-0.2174	10	0.87932	D	0	.	17.4529	0.87597	0.0:0.0:1.0:0.0	.	74	Q9H4B7	TBB1_HUMAN	N	74	ENSP00000217133:D74N	ENSP00000217133:D74N	D	+	1	0	TUBB1	57031993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.755000	0.98912	2.370000	0.80446	0.655000	0.94253	GAC	TUBB1	-	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin	ENSG00000101162		0.468	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1	63	0.00	0	G	NM_030773		57598598	57598598	+1	no_errors	ENST00000217133	ensembl	human	known	69_37n	missense	445	16.51	88	SNP	1.000	A
TYW3	127253	genome.wustl.edu	37	1	75198992	75198992	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr1:75198992C>T	ENST00000370867.3	+	1	153	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	TYW3_ENST00000479111.1_5'UTR|CRYZ_ENST00000340866.5_5'Flank|TYW3_ENST00000421739.2_Missense_Mutation_p.R22W|CRYZ_ENST00000417775.1_5'UTR|TYW3_ENST00000457880.2_Missense_Mutation_p.R22W|CRYZ_ENST00000370871.3_5'Flank|CRYZ_ENST00000370872.3_5'Flank	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	22					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GGACCTCAGCCGGAAGGGCAG	0.567																																						dbGAP											0													125.0	98.0	107.0					1																	75198992		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.64C>T	1.37:g.75198992C>T	ENSP00000359904:p.Arg22Trp		B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising	p.R22W	ENST00000370867.3	37	c.64	CCDS666.1	1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927498	0.73327	.	.	ENSG00000162623	ENST00000457880;ENST00000370867;ENST00000421739	T;T;T	0.32272	1.46;1.46;1.46	4.61	3.68	0.42216	tRNA wybutosine-synthesizing protein (2);	0.230648	0.38837	N	0.001554	T	0.45155	0.1328	M	0.85299	2.745	0.23243	N	0.998056	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.949;0.999;0.994	T	0.41342	-0.9514	10	0.66056	D	0.02	-11.9197	11.5946	0.50966	0.3239:0.6761:0.0:0.0	.	22;22;22	B4DFU6;E9PGR7;Q6IPR3	.;.;TYW3_HUMAN	W	22	ENSP00000407025:R22W;ENSP00000359904:R22W;ENSP00000409336:R22W	ENSP00000359904:R22W	R	+	1	2	TYW3	74971580	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.182000	0.32029	1.108000	0.41662	0.561000	0.74099	CGG	TYW3	-	pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising	ENSG00000162623		0.567	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW3	HGNC	protein_coding	OTTHUMT00000026573.1	49	0.00	0	C	NM_138467		75198992	75198992	+1	no_errors	ENST00000370867	ensembl	human	known	69_37n	missense	15	76.56	49	SNP	1.000	T
ZNF512	84450	genome.wustl.edu	37	2	27822524	27822524	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EW-A2FW-01A-11D-A17D-09	TCGA-EW-A2FW-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b8b57c49-55b8-49e7-872f-c17f61f91560	a6331793-635f-4ef4-9dd6-38762efed301	g.chr2:27822524C>T	ENST00000355467.4	+	4	435	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000379717.1_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000556601.1_Silent_p.L28L|ZNF512_ENST00000413371.2_Nonsense_Mutation_p.Q41*	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	118					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(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGAATTTCCTCAGAAGAAGCA	0.418																																						dbGAP											0													133.0	128.0	129.0					2																	27822524		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.352C>T	2.37:g.27822524C>T	ENSP00000347648:p.Gln118*		B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q118*	ENST00000355467.4	37	c.352	CCDS1758.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130307	0.77549	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000416005;ENST00000413371	.	.	.	5.12	5.12	0.69794	.	0.108088	0.41938	D	0.000800	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.185	11.0524	0.47898	0.185:0.815:0.0:0.0	.	.	.	.	X	117;118;117;41	.	ENSP00000347648:Q118X	Q	+	1	0	ZNF512	27676028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.582000	0.46085	2.668000	0.90789	0.655000	0.94253	CAG	ZNF512	-	NULL	ENSG00000243943		0.418	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF512	HGNC	protein_coding	OTTHUMT00000215029.2	62	0.00	0	C	NM_032434		27822524	27822524	+1	no_errors	ENST00000355467	ensembl	human	known	69_37n	nonsense	69	12.66	10	SNP	1.000	T
