#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABR	29	genome.wustl.edu	37	17	909373	909374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr17:909373_909374insG	ENST00000302538.5	-	23	2672_2673	c.2526_2527insC	c.(2524-2529)cccattfs	p.I843fs	ABR_ENST00000536794.2_Frame_Shift_Ins_p.I625fs|ABR_ENST00000291107.2_Frame_Shift_Ins_p.I806fs|ABR_ENST00000574437.1_Frame_Shift_Ins_p.I797fs|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Frame_Shift_Ins_p.I294fs|ABR_ENST00000544583.2_Frame_Shift_Ins_p.I797fs	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	843	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I843fs*>18(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCGAAGGAAATGGGGGGGTGCT	0.644																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											1	Insertion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2527dupC	17.37:g.909380_909380dupG	ENSP00000303909:p.Ile843fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.I842fs	ENST00000302538.5	37	c.2527_2526	CCDS10999.1	17																																																																																			ABR	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom	ENSG00000159842		0.644	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	20	0.00	0	-			909373	909374	-1	no_errors	ENST00000302538	ensembl	human	known	69_37n	frame_shift_ins	30	11.76	4	INS	1.000:1.000	G
ALDH8A1	64577	genome.wustl.edu	37	6	135239594	135239594	+	Missense_Mutation	SNP	C	C	T	rs188652133		TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr6:135239594C>T	ENST00000265605.2	-	7	1491	c.1423G>A	c.(1423-1425)Gac>Aac	p.D475N	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.D425N|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.D421N	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	475					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTGAAGAAGTCGTAAGAGTCC	0.502													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21102	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													133.0	130.0	131.0					6																	135239594		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1423G>A	6.37:g.135239594C>T	ENSP00000265605:p.Asp475Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.D475N	ENST00000265605.2	37	c.1423	CCDS5171.1	6	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.28	3.797105	0.70567	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.76448	-1.02;1.5;-1.02	6.06	6.06	0.98353	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.285494	0.45867	D	0.000323	T	0.70631	0.3246	L	0.54863	1.705	0.41155	D	0.986053	P;B;B	0.34826	0.471;0.097;0.118	B;B;B	0.35770	0.21;0.058;0.097	T	0.71636	-0.4533	10	0.49607	T	0.09	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	425;421;475	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	N	475;421;425	ENSP00000265605:D475N;ENSP00000356819:D421N;ENSP00000356821:D425N	ENSP00000265605:D475N	D	-	1	0	ALDH8A1	135281287	1.000000	0.71417	0.980000	0.43619	0.968000	0.65278	5.146000	0.64845	2.879000	0.98667	0.650000	0.86243	GAC	ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000118514		0.502	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	116	0.00	0	C			135239594	135239594	-1	no_errors	ENST00000265605	ensembl	human	known	69_37n	missense	156	10.34	18	SNP	1.000	T
CCDC108	255101	genome.wustl.edu	37	2	219883882	219883883	+	Frame_Shift_Ins	INS	-	-	G	rs568903495|rs189561241	byFrequency	TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr2:219883882_219883883insG	ENST00000341552.5	-	21	3575_3576	c.3492_3493insC	c.(3490-3495)cccgtcfs	p.V1165fs	CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.V1165fs|CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.V1165fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1165						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTGAGGACGGGGGGGATCT	0.614																																						dbGAP											0										4,4248		0,4,2122						-2.8	0.0			53	5,8229		0,5,4112	no	frameshift	CCDC108	NM_194302.2		0,9,6234	A1A1,A1R,RR		0.0607,0.0941,0.0721				9,12477				-	-	-	SO:0001589	frameshift_variant	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3493dupC	2.37:g.219883889_219883889dupG	ENSP00000340776:p.Val1165fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Ins	INS	superfamily_PapD-like,pfscan_Major_sperm	p.V1164fs	ENST00000341552.5	37	c.3493_3492	CCDS2430.2	2																																																																																			CCDC108	-	NULL	ENSG00000181378		0.614	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	32	0.00	0	-	NM_194302		219883882	219883883	-1	no_errors	ENST00000341552	ensembl	human	known	69_37n	frame_shift_ins	33	10.81	4	INS	0.001:0.000	G
CDH1	999	genome.wustl.edu	37	16	68847278	68847279	+	Frame_Shift_Ins	INS	-	-	A	rs553525438		TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr16:68847278_68847279insA	ENST00000261769.5	+	9	1391_1392	c.1200_1201insA	c.(1201-1203)gctfs	p.A401fs	CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.Y380_K440del(2)|p.D400del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AAGTGACTGATGCTGATGCCCC	0.475			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Deletion - In frame(3)|Unknown(1)	stomach(2)|breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	Exception_encountered	16.37:g.68847278_68847279insA	ENSP00000261769:p.Ala401fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A400fs	ENST00000261769.5	37	c.1200_1201	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.475	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	96	0.00	0	-	NM_004360		68847278	68847279	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	22	79.05	83	INS	0.868:0.825	A
CHD3	1107	genome.wustl.edu	37	17	7796758	7796758	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr17:7796758G>C	ENST00000330494.7	+	5	814	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	CHD3_ENST00000358181.4_Missense_Mutation_p.E222Q|CHD3_ENST00000380358.4_Missense_Mutation_p.E281Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	222					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				agcTGTAGCTGAGCAGGTGTC	0.657																																						dbGAP											0													20.0	20.0	20.0					17																	7796758		2203	4297	6500	-	-	-	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.664G>C	17.37:g.7796758G>C	ENSP00000332628:p.Glu222Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E222Q	ENST00000330494.7	37	c.664	CCDS32554.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.49|13.49	2.251923|2.251923	0.39797|0.39797	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000452447	D;D;D|.	0.91237|.	-2.81;-2.73;-2.74|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.000000|.	0.46758|.	D|.	0.000270|.	T|.	0.72137|.	0.3423|.	M|M	0.62723|0.62723	1.935|1.935	0.54753|0.54753	D|D	0.999982|0.999982	D;D;D|.	0.61080|.	0.989;0.981;0.981|.	D;D;D|.	0.72982|.	0.979;0.954;0.954|.	T|.	0.71056|.	-0.4703|.	10|.	0.46703|.	T|.	0.11|.	-31.8121|-31.8121	16.8482|16.8482	0.85986|0.85986	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	222;222;281|.	Q12873-2;Q12873;E9PG89|.	.;CHD3_HUMAN;.|.	Q|S	281;222;222|96	ENSP00000369716:E281Q;ENSP00000350907:E222Q;ENSP00000332628:E222Q|.	ENSP00000332628:E222Q|.	E|X	+|+	1|2	0|2	CHD3|CHD3	7737483|7737483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.784000|7.784000	0.85713|0.85713	2.509000|2.509000	0.84616|0.84616	0.555000|0.555000	0.69702|0.69702	GAG|TGA	CHD3	-	superfamily_HMG_superfamily	ENSG00000170004		0.657	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	100	0.00	0	G	NM_001005273		7796758	7796758	+1	no_errors	ENST00000330494	ensembl	human	known	69_37n	missense	82	15.46	15	SNP	1.000	C
CLSPN	63967	genome.wustl.edu	37	1	36202522	36202522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr1:36202522delT	ENST00000318121.3	-	24	3959	c.3902delA	c.(3901-3903)aagfs	p.K1301fs	CLSPN_ENST00000251195.5_Frame_Shift_Del_p.K1301fs|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000520551.1_Frame_Shift_Del_p.K1248fs|CLSPN_ENST00000373220.3_Frame_Shift_Del_p.K1237fs|CLSPN_ENST00000466308.1_5'UTR	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1301					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACCTGAGACTTAGACGATTC	0.383																																						dbGAP											0													76.0	79.0	78.0					1																	36202522		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3902delA	1.37:g.36202522delT	ENSP00000312995:p.Lys1301fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Frame_Shift_Del	DEL	NULL	p.K1301fs	ENST00000318121.3	37	c.3902	CCDS396.1	1																																																																																			CLSPN	-	NULL	ENSG00000092853		0.383	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	100	0.00	0	T	NM_022111		36202522	36202522	-1	no_errors	ENST00000318121	ensembl	human	known	69_37n	frame_shift_del	53	59.29	83	DEL	1.000	-
ELN	2006	genome.wustl.edu	37	7	73457000	73457001	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr7:73457000_73457001GC>CT	ENST00000252034.7	+	6	688_689	c.289_290GC>CT	c.(289-291)GCt>CTt	p.A97L	ELN_ENST00000380562.4_Missense_Mutation_p.A97L|ELN_ENST00000380576.5_Missense_Mutation_p.A97L|ELN_ENST00000320399.6_Missense_Mutation_p.A97L|ELN_ENST00000357036.5_Missense_Mutation_p.A97L|ELN_ENST00000320492.7_Missense_Mutation_p.A85L|ELN_ENST00000380553.4_Intron|ELN_ENST00000429192.1_Missense_Mutation_p.A97L|ELN_ENST00000445912.1_Missense_Mutation_p.A97L|ELN_ENST00000358929.4_Missense_Mutation_p.A97L|ELN_ENST00000458204.1_Missense_Mutation_p.A87L|ELN_ENST00000414324.1_Missense_Mutation_p.A87L|ELN_ENST00000380584.4_Missense_Mutation_p.A97L|ELN_ENST00000380575.4_Missense_Mutation_p.A87L	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	97	Poly-Ala.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGGTGGAGTGGCTGACGCTGCT	0.634			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															dbGAP		Dom	yes		7	7q11.23	2006	elastin	yes	L	0																																										-	-	-	SO:0001583	missense	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	Exception_encountered	7.37:g.73457000_73457001delinsCT	ENSP00000252034:p.Ala97Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.A97P|p.A97V	ENST00000252034.7	37	c.289|c.290	CCDS5562.2	7																																																																																			ELN	-	NULL	ENSG00000049540		0.634	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	36|35	0.00	0	G|C	NM_000501		73457000|73457001	73457000|73457001	+1	no_errors	ENST00000358929	ensembl	human	known	69_37n	missense	51|52	21.54|21.21	14	SNP	0.079	C|T
ERBB2	2064	genome.wustl.edu	37	17	37880220	37880220	+	Missense_Mutation	SNP	T	T	C	rs121913470|rs121913469		TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr17:37880220T>C	ENST00000269571.5	+	19	2423	c.2264T>C	c.(2263-2265)tTg>tCg	p.L755S	ERBB2_ENST00000445658.2_Missense_Mutation_p.L479S|ERBB2_ENST00000541774.1_Missense_Mutation_p.L740S|ERBB2_ENST00000540147.1_Missense_Mutation_p.L725S|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Missense_Mutation_p.L725S|ERBB2_ENST00000584450.1_Missense_Mutation_p.L755S|ERBB2_ENST00000584601.1_Missense_Mutation_p.L725S			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	755	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> P (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:15457249}.		axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.L755S(10)|p.L755P(2)|p.L755_S760>A(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ATCAAAGTGTTGAGGGAAAAC	0.532	L755S(LN229_CENTRAL_NERVOUS_SYSTEM)	1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												dbGAP		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	13	Substitution - Missense(12)|Complex - insertion inframe(1)	breast(7)|lung(3)|stomach(2)|large_intestine(1)											112.0	97.0	102.0					17																	37880220		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2264T>C	17.37:g.37880220T>C	ENSP00000269571:p.Leu755Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L755S	ENST00000269571.5	37	c.2264	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	T	32	5.190536	0.94923	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.83644	0.5299	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86913	0.2062	9	0.87932	D	0	.	14.7238	0.69329	0.0:0.0:0.0:1.0	.	479;740;755	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	S	725;740;479;755;725	ENSP00000385185:L725S;ENSP00000446466:L740S;ENSP00000404047:L479S;ENSP00000269571:L755S;ENSP00000443562:L725S	ENSP00000269571:L755S	L	+	2	0	ERBB2	35133746	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.955000	0.56771	0.379000	0.24179	TTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000141736		0.532	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	95	0.00	0	T			37880220	37880220	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	98	50.51	100	SNP	1.000	C
FAM169B	283777	genome.wustl.edu	37	15	99023896	99023896	+	Silent	SNP	C	C	A			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr15:99023896C>A	ENST00000558256.1	-	4	366	c.117G>T	c.(115-117)gtG>gtT	p.V39V	FAM169B_ENST00000332908.4_Silent_p.V39V	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	39										large_intestine(3)|lung(3)|urinary_tract(1)	7						CTTGTTCCTTCACAGAGTGAG	0.443																																						dbGAP											0													115.0	111.0	112.0					15																	99023896		1904	4132	6036	-	-	-	SO:0001819	synonymous_variant	0				CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.117G>T	15.37:g.99023896C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDL8	Silent	SNP	NULL	p.V39	ENST00000558256.1	37	c.117	CCDS45360.1	15																																																																																			FAM169B	-	NULL	ENSG00000185087		0.443	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169B	HGNC	protein_coding	OTTHUMT00000415488.1	101	0.00	0	C	NM_182562		99023896	99023896	-1	no_errors	ENST00000332908	ensembl	human	known	69_37n	silent	42	64.10	75	SNP	0.897	A
FAM47A	158724	genome.wustl.edu	37	X	34149384	34149384	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chrX:34149384G>A	ENST00000346193.3	-	1	1063	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	338										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGCTCTAGGCGGAGATGGGAC	0.652																																						dbGAP											0													21.0	23.0	22.0					X																	34149384		2181	4286	6467	-	-	-	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1012C>T	X.37:g.34149384G>A	ENSP00000345029:p.Arg338Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.R338C	ENST00000346193.3	37	c.1012	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	g	3.139	-0.176715	0.06380	.	.	ENSG00000185448	ENST00000346193	T	0.21543	2.0	0.226	-0.452	0.12205	.	.	.	.	.	T	0.08846	0.0219	N	0.10733	0.035	0.21416	N	0.999694	B	0.11235	0.004	B	0.06405	0.002	T	0.28902	-1.0029	8	0.46703	T	0.11	.	.	.	.	.	338	Q5JRC9	FA47A_HUMAN	C	338	ENSP00000345029:R338C	ENSP00000345029:R338C	R	-	1	0	FAM47A	34059305	0.952000	0.32445	0.001000	0.08648	0.001000	0.01503	2.167000	0.42415	-0.727000	0.04888	-0.722000	0.03604	CGC	FAM47A	-	NULL	ENSG00000185448		0.652	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	128	0.00	0	G	NM_203408		34149384	34149384	-1	no_errors	ENST00000346193	ensembl	human	known	69_37n	missense	66	24.14	21	SNP	0.452	A
HERC2	8924	genome.wustl.edu	37	15	28421867	28421867	+	Silent	SNP	A	A	G			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr15:28421867A>G	ENST00000261609.7	-	62	9588	c.9480T>C	c.(9478-9480)agT>agC	p.S3160S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCGCGTCTCTACTCCCACATG	0.498																																						dbGAP											0													176.0	179.0	178.0					15																	28421867		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9480T>C	15.37:g.28421867A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.S3160	ENST00000261609.7	37	c.9480	CCDS10021.1	15																																																																																			HERC2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000128731		0.498	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	189	0.00	0	A	NM_004667		28421867	28421867	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	silent	85	34.35	45	SNP	0.333	G
HERC2P4	100289574	genome.wustl.edu	37	16	32190861	32190861	+	IGR	SNP	G	G	T	rs137994127	byFrequency	TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr16:32190861G>T								HERC2P4 (7973 upstream) : RP11-17M15.1 (8792 downstream)																							TCTCACTGGGGCTCAGAGGGC	0.438													g|||	229	0.0457268	0.0038	0.0663	5008	,	,		31005	0.002		0.1561	False		,,,				2504	0.0194					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.32190861G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		16	131	0.059981684981684984	3	0.006097560975609756	22	0.06077348066298342	0	0.0	106	0.13984168865435356	.	0.891	-0.725409	0.03158	.	.	ENSG00000230267	ENST00000433784	.	.	.	2.36	-1.16	0.09678	.	.	.	.	.	T	0.00384	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	T	0.20840	-1.0263	4	0.72032	D	0.01	.	5.8775	0.18836	0.6036:0.0:0.3964:0.0	.	.	.	.	R	107	.	ENSP00000402538:S107R	S	-	3	2	AC133485.1	32098362	1.000000	0.71417	0.997000	0.53966	0.057000	0.15508	1.668000	0.37481	-0.083000	0.12618	0.194000	0.17425	AGC	HERC2P4	-	-	ENSG00000230267	0	0.438					HERC2P4	HGNC			16	0.00	0	G			32190861	32190861	-1	no_errors	ENST00000566591	ensembl	human	known	69_37n	rna	81	25.00	27	SNP	1.000	T
HLA-DRB6	3128	genome.wustl.edu	37	6	32522713	32522713	+	RNA	SNP	G	G	C	rs35848793	byFrequency	TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr6:32522713G>C	ENST00000411500.1	-	0	493					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGCAGGGGCTGGGTCTTTGCA	0.493													G|||	549	0.109625	0.1082	0.1354	5008	,	,		10546	0.0476		0.162	False		,,,				2504	0.1033					dbGAP											0																																										-	-	-			0			L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522713G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000411500.1	37	NULL		6																																																																																			HLA-DRB6	-	-	ENSG00000229391		0.493	HLA-DRB6-002	KNOWN	basic	processed_transcript	HLA-DRB6	HGNC	pseudogene	OTTHUMT00000272900.1	16	0.00	0	G	NR_001298		32522713	32522713	-1	no_errors	ENST00000411500	ensembl	human	known	69_37n	rna	14	36.36	8	SNP	0.675	C
INPP5B	3633	genome.wustl.edu	37	1	38409488	38409488	+	Missense_Mutation	SNP	C	C	T	rs541762818		TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr1:38409488C>T	ENST00000373026.1	-	3	230	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	INPP5B_ENST00000373023.2_Missense_Mutation_p.R77Q|INPP5B_ENST00000373021.1_Missense_Mutation_p.R77Q|INPP5B_ENST00000373024.3_Missense_Mutation_p.R77Q			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	77	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGTAAAATCCCGCGAGACTGG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		18022	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													91.0	89.0	90.0					1																	38409488		1935	4142	6077	-	-	-	SO:0001583	missense	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.230G>A	1.37:g.38409488C>T	ENSP00000362117:p.Arg77Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R77Q	ENST00000373026.1	37	c.230		1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575366	0.45902	.	.	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.91945	-2.91;-2.91;-2.94;0.92	5.17	2.22	0.28083	.	0.221826	0.30227	N	0.010108	D	0.85243	0.5652	L	0.56769	1.78	0.46167	D	0.998905	P;P;B	0.44690	0.585;0.841;0.003	B;B;B	0.33690	0.062;0.168;0.005	T	0.79172	-0.1913	10	0.26408	T	0.33	.	6.3033	0.21125	0.0:0.6856:0.0:0.3144	.	77;77;77	P32019;B1ARF3;P32019-2	I5P2_HUMAN;.;.	Q	77	ENSP00000362114:R77Q;ENSP00000362117:R77Q;ENSP00000362115:R77Q;ENSP00000362112:R77Q	ENSP00000362112:R77Q	R	-	2	0	INPP5B	38182075	0.784000	0.28713	0.602000	0.28890	0.771000	0.43674	1.326000	0.33735	0.657000	0.30906	-0.379000	0.06801	CGG	INPP5B	-	NULL	ENSG00000204084		0.582	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	79	0.00	0	C	NM_005540		38409488	38409488	-1	no_errors	ENST00000373023	ensembl	human	known	69_37n	missense	57	30.49	25	SNP	0.648	T
IPO13	9670	genome.wustl.edu	37	1	44424472	44424472	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr1:44424472C>G	ENST00000372343.3	+	11	2601	c.1939C>G	c.(1939-1941)Ctc>Gtc	p.L647V		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	647					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TCTCTCCAACCTCTTCACCAC	0.557																																						dbGAP											0													116.0	107.0	110.0					1																	44424472		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1939C>G	1.37:g.44424472C>G	ENSP00000361418:p.Leu647Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L647V	ENST00000372343.3	37	c.1939	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139452	0.77775	.	.	ENSG00000117408	ENST00000372343	T	0.66815	-0.23	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.74414	-0.3673	10	0.23302	T	0.38	-16.003	19.743	0.96238	0.0:1.0:0.0:0.0	.	647	O94829	IPO13_HUMAN	V	647	ENSP00000361418:L647V	ENSP00000361418:L647V	L	+	1	0	IPO13	44197059	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.804000	0.55568	2.667000	0.90743	0.650000	0.86243	CTC	IPO13	-	superfamily_ARM-type_fold	ENSG00000117408		0.557	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	77	0.00	0	C	NM_014652		44424472	44424472	+1	no_errors	ENST00000372343	ensembl	human	known	69_37n	missense	63	26.14	23	SNP	1.000	G
KIAA1462	57608	genome.wustl.edu	37	10	30318244	30318244	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr10:30318244C>G	ENST00000375377.1	-	3	934	c.833G>C	c.(832-834)aGt>aCt	p.S278T		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	278	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGAGCAGCCACTCTTCTCAGA	0.532																																						dbGAP											0													72.0	74.0	73.0					10																	30318244		1922	4128	6050	-	-	-	SO:0001583	missense	0			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.833G>C	10.37:g.30318244C>G	ENSP00000364526:p.Ser278Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.S278T	ENST00000375377.1	37	c.833	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	3.017	-0.202643	0.06219	.	.	ENSG00000165757	ENST00000375377	T	0.12255	2.7	4.82	0.0469	0.14278	.	0.430271	0.22727	N	0.056364	T	0.08802	0.0218	N	0.25647	0.755	0.09310	N	0.999993	B	0.10296	0.003	B	0.09377	0.004	T	0.27400	-1.0075	10	0.36615	T	0.2	-2.7882	9.8776	0.41213	0.2279:0.3702:0.4019:0.0	.	278	Q9P266	K1462_HUMAN	T	278	ENSP00000364526:S278T	ENSP00000364526:S278T	S	-	2	0	KIAA1462	30358250	0.000000	0.05858	0.195000	0.23364	0.020000	0.10135	-0.008000	0.12788	-0.221000	0.09973	-0.268000	0.10319	AGT	KIAA1462	-	NULL	ENSG00000165757		0.532	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	126	0.00	0	C	NM_020848		30318244	30318244	-1	no_errors	ENST00000375377	ensembl	human	known	69_37n	missense	57	53.66	66	SNP	0.884	G
LARGE	9215	genome.wustl.edu	37	22	33679330	33679331	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr22:33679330_33679331insC	ENST00000354992.2	-	14	2305_2306	c.1734_1735insG	c.(1732-1737)aagtctfs	p.S579fs	LARGE_ENST00000437602.2_Intron|LARGE_ENST00000337431.2_Frame_Shift_Ins_p.S527fs|LARGE_ENST00000402320.1_Frame_Shift_Ins_p.S527fs|LARGE_ENST00000452586.2_Frame_Shift_Ins_p.S378fs|LARGE_ENST00000397394.2_Frame_Shift_Ins_p.S579fs	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	579					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGGATGACAGACTTCCTGAAAA	0.579																																					Colon(70;397 1175 4573 19089 45288)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1735dupG	22.37:g.33679331_33679331dupC	ENSP00000347088:p.Ser579fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Frame_Shift_Ins	INS	pfam_Glyco_trans_8	p.S578fs	ENST00000354992.2	37	c.1735_1734	CCDS13912.1	22																																																																																			LARGE	-	NULL	ENSG00000133424		0.579	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	57	0.00	0	-	NM_133642		33679330	33679331	-1	no_errors	ENST00000354992	ensembl	human	known	69_37n	frame_shift_ins	56	16.42	11	INS	1.000:1.000	C
DNASE2	1777	genome.wustl.edu	37	19	12984565	12984565	+	IGR	SNP	G	G	A			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr19:12984565G>A	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Silent_p.S1198S	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GATGCAAGTCGGCCGGCAACA	0.692																																						dbGAP											0													34.0	36.0	36.0					19																	12984565		2203	4297	6500	-	-	-	SO:0001628	intergenic_variant	0			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12984565G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD06|B7Z4K6|O43910	Silent	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S1198	ENST00000222219.3	37	c.3594	CCDS12284.1	19																																																																																			MAST1	-	NULL	ENSG00000105613		0.692	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451790.1	55	0.00	0	G			12984565	12984565	+1	no_errors	ENST00000251472	ensembl	human	known	69_37n	silent	34	46.15	30	SNP	0.997	A
MYH10	4628	genome.wustl.edu	37	17	8439105	8439105	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr17:8439105C>A	ENST00000269243.4	-	14	1858	c.1720G>T	c.(1720-1722)Gat>Tat	p.D574Y	MYH10_ENST00000360416.3_Missense_Mutation_p.D584Y|MYH10_ENST00000379980.4_Missense_Mutation_p.D590Y|MYH10_ENST00000396239.1_Missense_Mutation_p.D574Y	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	574	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATGCAAAAATCAGCTTTGTCT	0.358																																						dbGAP											0													80.0	80.0	80.0					17																	8439105		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1720G>T	17.37:g.8439105C>A	ENSP00000269243:p.Asp574Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D574Y	ENST00000269243.4	37	c.1720	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948285	0.92593	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.15	5.15	0.70609	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93936	0.8059	M	0.87900	2.915	0.80722	D	1	D;P;D	0.53312	0.959;0.95;0.959	P;P;P	0.62560	0.904;0.845;0.904	D	0.94676	0.7861	10	0.87932	D	0	.	18.811	0.92057	0.0:1.0:0.0:0.0	.	583;584;574	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Y	574;584;574;590	ENSP00000269243:D574Y;ENSP00000353590:D584Y;ENSP00000379539:D574Y;ENSP00000369315:D590Y	ENSP00000269243:D574Y	D	-	1	0	MYH10	8379830	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	7.651000	0.83577	2.664000	0.90586	0.557000	0.71058	GAT	MYH10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133026		0.358	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	49	0.00	0	C			8439105	8439105	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	11	79.63	43	SNP	1.000	A
MYO1D	4642	genome.wustl.edu	37	17	30821847	30821847	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr17:30821847C>T	ENST00000318217.5	-	22	3255	c.2951G>A	c.(2950-2952)cGg>cAg	p.R984Q	MYO1D_ENST00000394649.4_Missense_Mutation_p.R896Q|RP11-466A19.1_ENST00000581360.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	984	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTGGTTGAGCCGCGTCTCCAC	0.647																																						dbGAP											0													93.0	67.0	76.0					17																	30821847		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2951G>A	17.37:g.30821847C>T	ENSP00000324527:p.Arg984Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V3|Q8NHP9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R984Q	ENST00000318217.5	37	c.2951	CCDS32615.1	17	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799539	0.31869	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	T	0.35236	1.32	4.83	3.86	0.44501	Myosin tail 2 (1);	0.498482	0.14814	U	0.296865	T	0.17365	0.0417	N	0.11201	0.11	0.80722	D	1	B	0.20550	0.046	B	0.15484	0.013	T	0.05954	-1.0854	10	0.13853	T	0.58	.	7.834	0.29360	0.0:0.8095:0.0:0.1905	.	984	O94832	MYO1D_HUMAN	Q	984;176	ENSP00000324527:R984Q	ENSP00000324527:R984Q	R	-	2	0	MYO1D	27845960	0.996000	0.38824	0.994000	0.49952	0.993000	0.82548	0.616000	0.24344	1.150000	0.42419	0.655000	0.94253	CGG	MYO1D	-	pfam_Myosin_tail_2	ENSG00000176658		0.647	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	25	0.00	0	C			30821847	30821847	-1	no_errors	ENST00000318217	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	0.980	T
PCDHA10	56139	genome.wustl.edu	37	5	140236812	140236812	+	Silent	SNP	G	G	A	rs148283153		TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr5:140236812G>A	ENST00000307360.5	+	1	1179	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.P393P|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	393	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACGTTCCGTTCAAGCTGG	0.567																																						dbGAP											0													145.0	127.0	133.0					5																	140236812		2197	4273	6470	-	-	-	SO:0001819	synonymous_variant	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1179G>A	5.37:g.140236812G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L493|O75280|Q9NRU2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P393	ENST00000307360.5	37	c.1179	CCDS54921.1	5																																																																																			PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.567	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	76	0.00	0	G	NM_018901		140236812	140236812	+1	no_errors	ENST00000307360	ensembl	human	known	69_37n	silent	29	46.30	25	SNP	0.878	A
RUNX1	861	genome.wustl.edu	37	21	36252946	36252946	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr21:36252946T>C	ENST00000344691.4	-	2	1912	c.335A>G	c.(334-336)aAc>aGc	p.N112S	RUNX1_ENST00000300305.3_Missense_Mutation_p.N139S|RUNX1_ENST00000486278.2_Missense_Mutation_p.N115S|RUNX1_ENST00000325074.5_Missense_Mutation_p.N127S|RUNX1_ENST00000437180.1_Missense_Mutation_p.N139S|RUNX1_ENST00000399240.1_Missense_Mutation_p.N112S|RUNX1_ENST00000358356.5_Missense_Mutation_p.N112S	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	112	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AGCCGAGTAGTTTTCATCATT	0.498			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													124.0	105.0	111.0					21																	36252946		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.335A>G	21.37:g.36252946T>C	ENSP00000340690:p.Asn112Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.N139S	ENST00000344691.4	37	c.416	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360858	0.82353	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	D;D;D;D;D;D;D;D;D	0.99656	-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31	5.31	5.31	0.75309	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	M	0.90759	3.145	0.80722	D	1	D;D;D;P;D;D;D	0.76494	0.999;0.989;0.973;0.872;0.992;0.996;0.996	D;D;D;D;D;D;D	0.79108	0.992;0.985;0.954;0.957;0.99;0.978;0.963	D	0.97622	1.0136	10	0.87932	D	0	-36.1602	15.5565	0.76200	0.0:0.0:0.0:1.0	.	139;112;112;115;139;127;112	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	S	112;139;139;127;112;115;112;127;115;126	ENSP00000340690:N112S;ENSP00000300305:N139S;ENSP00000409227:N139S;ENSP00000319459:N127S;ENSP00000382184:N112S;ENSP00000351123:N112S;ENSP00000382182:N127S;ENSP00000438019:N115S;ENSP00000388189:N126S	ENSP00000300305:N139S	N	-	2	0	RUNX1	35174816	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.655000	0.83696	2.143000	0.66587	0.533000	0.62120	AAC	RUNX1	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	ENSG00000159216		0.498	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	122	0.00	0	T			36252946	36252946	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	missense	73	46.38	64	SNP	1.000	C
SDHAP1	255812	genome.wustl.edu	37	3	195701310	195701311	+	RNA	INS	-	-	AA	rs369138533		TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr3:195701310_195701311insAA	ENST00000427841.1	-	0	1513_1514					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CATGCCTGACCAGACAACCAGG	0.574																																					Ovarian(67;1158 1227 12109 20189 43170)	dbGAP											0																																										-	-	-			0			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701310_195701311insAA		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	INS	-	NULL	ENST00000427841.1	37	c.NULL		3																																																																																			SDHAP1	-	-	ENSG00000185485		0.574	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	75	0.00	0	-			195701310	195701311	-1	no_coding_region:pseudogene	ENST00000354937	ensembl	human	known	69_37n	splice_site_ins	127	11.19	16	INS	1.000:0.999	AA
SMARCC1	6599	genome.wustl.edu	37	3	47676719	47676719	+	Silent	SNP	G	G	C			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr3:47676719G>C	ENST00000254480.5	-	24	2726	c.2607C>G	c.(2605-2607)gcC>gcG	p.A869A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	869	Poly-Ala.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CAGCTGCTGCGGCTGTGGCAA	0.448																																						dbGAP											0													95.0	96.0	96.0					3																	47676719		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2607C>G	3.37:g.47676719G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RS0|Q6P172|Q8IWH2	Silent	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.A869	ENST00000254480.5	37	c.2607	CCDS2758.1	3																																																																																			SMARCC1	-	NULL	ENSG00000173473		0.448	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	HGNC	protein_coding	OTTHUMT00000257491.1	320	0.00	0	G			47676719	47676719	-1	no_errors	ENST00000254480	ensembl	human	known	69_37n	silent	327	47.60	297	SNP	0.884	C
SNRPN	6638	genome.wustl.edu	37	15	25221514	25221514	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr15:25221514G>T	ENST00000400100.1	+	9	1108	c.218G>T	c.(217-219)cGt>cTt	p.R73L	SNRPN_ENST00000577565.1_Missense_Mutation_p.R73L|SNRPN_ENST00000346403.6_Missense_Mutation_p.R73L|SNRPN_ENST00000390687.4_Missense_Mutation_p.R73L|SNRPN_ENST00000400098.1_Missense_Mutation_p.R73L|SNRPN_ENST00000554227.2_Missense_Mutation_p.R77L|SNRPN_ENST00000400097.1_Missense_Mutation_p.R73L|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000444203.2_Missense_Mutation_p.R77L|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	73					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GTGTTGCTGCGTGGGGAGAAC	0.448									Prader-Willi syndrome																													dbGAP											0													91.0	97.0	95.0					15																	25221514		1931	4144	6075	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.218G>T	15.37:g.25221514G>T	ENSP00000382972:p.Arg73Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.R77L	ENST00000400100.1	37	c.230	CCDS10017.1	15	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126063	0.77436	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	4.21	2.33	0.28932	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.82116	0.4967	H	0.99675	4.695	0.80722	D	1	B;P	0.38223	0.437;0.623	B;B	0.43103	0.333;0.408	D	0.83477	0.0062	10	0.72032	D	0.01	-4.632	8.5256	0.33302	0.1943:0.0:0.8057:0.0	.	77;73	B3KVR1;P63162	.;RSMN_HUMAN	L	73;73;73;77;73;77	ENSP00000382972:R73L;ENSP00000382970:R73L;ENSP00000382969:R73L;ENSP00000452342:R77L;ENSP00000375105:R73L;ENSP00000408767:R77L	ENSP00000375105:R73L	R	+	2	0	SNRPN	22772607	1.000000	0.71417	0.537000	0.28052	0.994000	0.84299	8.786000	0.91826	0.730000	0.32425	0.591000	0.81541	CGT	SNRPN	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	ENSG00000128739		0.448	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRPN	HGNC	protein_coding	OTTHUMT00000413849.10	116	0.85	1	G	NM_003097		25221514	25221514	+1	no_errors	ENST00000444203	ensembl	human	known	69_37n	missense	65	52.90	73	SNP	0.945	T
SRP14	6727	genome.wustl.edu	37	15	40330494	40330496	+	In_Frame_Del	DEL	TCT	TCT	-	rs201924463		TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr15:40330494_40330496delTCT	ENST00000267884.6	-	3	268_270	c.197_199delAGA	c.(196-201)aagatc>atc	p.K66del	SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000559081.1_In_Frame_Del_p.K66del|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	66					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ACAGTGCTGATCTTCTTCTTCCC	0.453																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.197_199delAGA	15.37:g.40330500_40330502delTCT	ENSP00000267884:p.Lys66del	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	pfam_Signal_recog_particle_SRP14,superfamily_Signal_recog_particle_SRP9/14,prints_Antifreeze_1	p.K66in_frame_del	ENST00000267884.6	37	c.199_197	CCDS42017.1	15																																																																																			SRP14	-	pfam_Signal_recog_particle_SRP14,superfamily_Signal_recog_particle_SRP9/14	ENSG00000140319		0.453	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP14	HGNC	protein_coding	OTTHUMT00000418262.2	80	0.00	0	TCT	NM_003134		40330494	40330496	-1	no_errors	ENST00000267884	ensembl	human	known	69_37n	in_frame_del	28	59.42	41	DEL	1.000:1.000:1.000	-
TRIP6	7205	genome.wustl.edu	37	7	100468023	100468023	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A0AB-01A-11W-A050-09	TCGA-A8-A0AB-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ad2a2f5d-dad6-4c03-b235-20810d6d34dc	5e1600e7-1950-44a9-a2d2-d32a8649d2ea	g.chr7:100468023delT	ENST00000200457.4	+	5	1127	c.767delT	c.(766-768)ctgfs	p.L256fs		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	256					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAGGATGAGCTGGATAGGCTG	0.622																																						dbGAP											0													28.0	26.0	27.0					7																	100468023		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.767delT	7.37:g.100468023delT	ENSP00000200457:p.Leu256fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Frame_Shift_Del	DEL	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L256fs	ENST00000200457.4	37	c.767	CCDS5708.1	7																																																																																			TRIP6	-	NULL	ENSG00000087077		0.622	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP6	HGNC	protein_coding	OTTHUMT00000347151.2	146	0.00	0	T	NM_003302		100468023	100468023	+1	no_errors	ENST00000200457	ensembl	human	known	69_37n	frame_shift_del	69	23.71	23	DEL	1.000	-
