#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
ASB10	136371	genome.wustl.edu	37	7	150884267	150884268	+	5'Flank	DEL	AG	AG	-	rs372716545		TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr7:150884267_150884268delAG	ENST00000420175.2	-	0	0				ASB10_ENST00000422024.1_Frame_Shift_Del_p.L29fs|ASB10_ENST00000275838.1_5'UTR|ASB10_ENST00000434669.1_Frame_Shift_Del_p.L29fs|ASB10_ENST00000377867.3_Intron			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCAAAGGCagagagagagag	0.594																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013		7.37:g.150884277_150884278delAG	Exception_encountered		A0AVH0|Q6ZUL6	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.L29fs	ENST00000420175.2	37	c.86_85	CCDS47750.2	7																																																																																			ASB10	-	NULL	ENSG00000146926		0.594	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	12	0.00	0	AG	NM_080871		150884267	150884268	-1	no_errors	ENST00000422024	ensembl	human	known	69_37n	frame_shift_del	10	23.08	3	DEL	0.003:0.000	-
CDK5RAP2	55755	genome.wustl.edu	37	9	123223027	123223027	+	Intron	DEL	T	T	-	rs552805136|rs74758129		TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr9:123223027delT	ENST00000349780.4	-	19	2286				CDK5RAP2_ENST00000359309.3_Intron|CDK5RAP2_ENST00000360822.3_Intron|CDK5RAP2_ENST00000360190.4_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2						brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGTGATGTCTTTTTTTTTTT	0.353																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2107-82A>-	9.37:g.123223027delT			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Splice_Site	DEL	-	e19-2	ENST00000349780.4	37	c.2104-2	CCDS6823.1	9																																																																																			CDK5RAP2	-	-	ENSG00000136861		0.353	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	27	0.00	0	T	NM_018249		123223027	123223027	-1	no_errors	ENST00000480112	ensembl	human	known	69_37n	splice_site_del	22	15.38	4	DEL	0.979	-
DLG3	1741	genome.wustl.edu	37	X	69722031	69722031	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chrX:69722031C>G	ENST00000374360.3	+	19	2599	c.2366C>G	c.(2365-2367)tCa>tGa	p.S789*	DLG3_ENST00000194900.4_Nonsense_Mutation_p.S821*|DLG3_ENST00000542398.1_Nonsense_Mutation_p.S338*|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000374355.3_Nonsense_Mutation_p.S484*	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	789	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CAGGGTGACTCACTGGAAGAG	0.443																																						dbGAP											0													90.0	76.0	81.0					X																	69722031		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.2366C>G	X.37:g.69722031C>G	ENSP00000363480:p.Ser789*		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Nonsense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.S821*	ENST00000374360.3	37	c.2462	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.210583	0.97380	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0163	0.86420	0.0:1.0:0.0:0.0	.	.	.	.	X	821;789;484;338	.	.	S	+	2	0	DLG3	69638756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.278000	0.78587	2.574000	0.86865	0.600000	0.82982	TCA	DLG3	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin	ENSG00000082458		0.443	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	HGNC	protein_coding	OTTHUMT00000057074.2	94	0.00	0	C	NM_021120		69722031	69722031	+1	no_errors	ENST00000194900	ensembl	human	known	69_37n	nonsense	54	14.29	9	SNP	1.000	G
FAM186A	121006	genome.wustl.edu	37	12	50747334	50747335	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr12:50747334_50747335GC>TT	ENST00000327337.5	-	4	3279_3280	c.3280_3281GC>AA	c.(3280-3282)GCt>AAt	p.A1094N	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Missense_Mutation_p.A1094N	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1094																	GATCCCCTGAGCCTGGGCCTGC	0.594																																					NSCLC(138;1796 1887 12511 19463 37884)	dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.3280_3281delinsTT	12.37:g.50747334_50747335delinsTT	ENSP00000329995:p.Ala1094Asn			Missense_Mutation	SNP	NULL	p.A1094D|p.A1094T	ENST00000327337.5	37	c.3281|c.3280	CCDS44878.1	12																																																																																			FAM186A	-	NULL	ENSG00000185958		0.594	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	125	0.00	0	G|C	XM_001718353		50747334|50747335	50747334|50747335	-1	no_errors	ENST00000327337	ensembl	human	known	69_37n	missense	57	28.75|26.92	23|21	SNP	0.000	T
NUTM2G	441457	genome.wustl.edu	37	9	99699543	99699543	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr9:99699543C>T	ENST00000372322.3	+	5	1201	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Missense_Mutation_p.H394Y	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	394																	GCTGGGGTCTCACCCTGGGGA	0.642																																						dbGAP											0													26.0	32.0	30.0					9																	99699543		1827	4055	5882	-	-	-	SO:0001583	missense	0				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1180C>T	9.37:g.99699543C>T	ENSP00000361397:p.His394Tyr		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.H394Y	ENST00000372322.3	37	c.1180	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.230183	0.00280	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159;ENST00000375230	T;T	0.23348	1.91;2.71	1.33	-2.67	0.06059	.	2.805350	0.01041	N	0.004306	T	0.15262	0.0368	L	0.29908	0.895	0.09310	N	1	B	0.27765	0.188	B	0.30646	0.118	T	0.13548	-1.0505	10	0.02654	T	1	.	3.6756	0.08291	0.239:0.4441:0.3169:0.0	.	394	Q5VZR2-2	.	Y	394;394;243;275	ENSP00000346670:H394Y;ENSP00000361397:H394Y	ENSP00000346670:H394Y	H	+	1	0	FAM22G	98739364	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.277000	0.18734	-0.816000	0.04340	-0.547000	0.04224	CAC	FAM22G	-	NULL	ENSG00000188152		0.642	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	62	0.00	0	C	NM_001170741		99699543	99699543	+1	no_errors	ENST00000372322	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	0.000	T
GNPTAB	79158	genome.wustl.edu	37	12	102151069	102151069	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr12:102151069C>T	ENST00000299314.7	-	18	3617	c.3355G>A	c.(3355-3357)Gaa>Aaa	p.E1119K		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1119					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GCGATTTCTTCTTCTCCCATG	0.269																																						dbGAP											0													68.0	65.0	66.0					12																	102151069		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3355G>A	12.37:g.102151069C>T	ENSP00000299314:p.Glu1119Lys		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.E1119K	ENST00000299314.7	37	c.3355	CCDS9088.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.593874|5.593874	0.96602|0.96602	.|.	.|.	ENSG00000111670|ENSG00000111670	ENST00000299314|ENST00000550718	D|.	0.82167|.	-1.58|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70850|0.70850	0.3271|0.3271	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D|.	0.59767|.	0.986|.	P|.	0.54544|.	0.755|.	T|T	0.64162|0.64162	-0.6472|-0.6472	10|5	0.66056|.	D|.	0.02|.	-31.0754|-31.0754	20.6282|20.6282	0.99521|0.99521	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1119|.	Q3T906|.	GNPTA_HUMAN|.	K|K	1119|56	ENSP00000299314:E1119K|.	ENSP00000299314:E1119K|.	E|R	-|-	1|2	0|0	GNPTAB|GNPTAB	100675200|100675200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.459000|7.459000	0.80802|0.80802	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	GAA|AGA	GNPTAB	-	NULL	ENSG00000111670		0.269	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	87	0.00	0	C			102151069	102151069	-1	no_errors	ENST00000299314	ensembl	human	known	69_37n	missense	40	11.11	5	SNP	1.000	T
KPNA3	3839	genome.wustl.edu	37	13	50296658	50296658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr13:50296658G>A	ENST00000261667.3	-	8	925	c.511C>T	c.(511-513)Cag>Tag	p.Q171*		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	171	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CAAACATTCTGATGTGGTGAA	0.328																																						dbGAP											0													70.0	69.0	69.0					13																	50296658		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.511C>T	13.37:g.50296658G>A	ENSP00000261667:p.Gln171*		O00191|O43195|Q5JVM9|Q96AA7	Nonsense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.Q171*	ENST00000261667.3	37	c.511	CCDS9421.1	13	.	.	.	.	.	.	.	.	.	.	G	39	7.898378	0.98551	.	.	ENSG00000102753	ENST00000261667	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-6.3404	19.4941	0.95064	0.0:0.0:1.0:0.0	.	.	.	.	X	171	.	ENSP00000261667:Q171X	Q	-	1	0	KPNA3	49194659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.682000	0.91365	0.591000	0.81541	CAG	KPNA3	-	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000102753		0.328	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2	34	0.00	0	G	NM_002267		50296658	50296658	-1	no_errors	ENST00000261667	ensembl	human	known	69_37n	nonsense	32	15.79	6	SNP	1.000	A
KRTAP4-7	100132476	genome.wustl.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						dbGAP											4	Substitution - Missense(4)	urinary_tract(2)|kidney(2)											18.0	28.0	25.0					17																	39240627		691	1590	2281	-	-	-	SO:0001583	missense	0			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro		A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	pfam_Keratin-assoc	p.S57P	ENST00000391417.4	37	c.169	CCDS45673.1	17	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT	KRTAP4-7	-	pfam_Keratin-assoc	ENSG00000240871		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	67	0.00	0	T			39240627	39240627	+1	no_errors	ENST00000391417	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	0.032	C
BZRAP1	9256	genome.wustl.edu	37	17	56408664	56408664	+	5'Flank	SNP	G	G	T			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr17:56408664G>T	ENST00000268893.6	-	0	0				BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|MIR142_ENST00000384835.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|MIR142_ENST00000579003.1_RNA|BZRAP1_ENST00000355701.3_5'Flank	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTACTTTATGGGTGACTGCA	0.567																																						dbGAP											0													94.0	91.0	92.0					17																	56408664		1568	3582	5150	-	-	-	SO:0001631	upstream_gene_variant	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153			17.37:g.56408664G>T	Exception_encountered		O75111|Q8N5W3	RNA	SNP	-	NULL	ENST00000268893.6	37	NULL	CCDS45742.1	17																																																																																			MIR142	-	-	ENSG00000207567		0.567	BZRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIR142	HGNC	protein_coding	OTTHUMT00000443978.1	44	0.00	0	G	NM_004758		56408664	56408664	-1	no_errors	ENST00000384835	ensembl	human	known	69_37n	rna	19	29.63	8	SNP	1.000	T
MYO7B	4648	genome.wustl.edu	37	2	128394164	128394164	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr2:128394164C>G	ENST00000409816.2	+	44	6122	c.6090C>G	c.(6088-6090)atC>atG	p.I2030M	LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000389524.4_Missense_Mutation_p.I2031M|MYO7B_ENST00000409090.1_Missense_Mutation_p.I883M|MYO7B_ENST00000428314.1_Missense_Mutation_p.I2030M			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2030	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCATCGCCATCAACCGACATG	0.667																																						dbGAP											0													70.0	74.0	72.0					2																	128394164		2134	4230	6364	-	-	-	SO:0001583	missense	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.6090C>G	2.37:g.128394164C>G	ENSP00000386461:p.Ile2030Met		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.I2031M	ENST00000409816.2	37	c.6093	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	c	23.7	4.447488	0.84101	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.12	4.24	0.50183	FERM domain (1);Pleckstrin homology-type (1);	0.056647	0.64402	D	0.000001	D	0.90191	0.6934	M	0.87097	2.86	0.48762	D	0.999705	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.986	D	0.91752	0.5413	10	0.87932	D	0	.	13.8036	0.63216	0.0:0.925:0.0:0.075	.	945;2030	B0I1T4;Q6PIF6	.;MYO7B_HUMAN	M	2031;2030;2030;883	ENSP00000374175:I2031M;ENSP00000415090:I2030M;ENSP00000386461:I2030M;ENSP00000386850:I883M	ENSP00000374175:I2031M	I	+	3	3	MYO7B	128110634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.907000	0.48743	1.282000	0.44496	0.591000	0.81541	ATC	MYO7B	-	pfscan_FERM_domain	ENSG00000169994		0.667	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	57	0.00	0	C	XM_291001		128394164	128394164	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	G
PGAM2	5224	genome.wustl.edu	37	7	44104972	44104972	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr7:44104972C>G	ENST00000297283.3	-	1	214	c.157G>C	c.(157-159)Gac>Cac	p.D53H	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	53					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						TAGCAGATGTCAAACTCCATC	0.612																																						dbGAP											0													139.0	107.0	118.0					7																	44104972		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.157G>C	7.37:g.44104972C>G	ENSP00000297283:p.Asp53His			Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.D53H	ENST00000297283.3	37	c.157	CCDS34624.1	7	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858187	0.91433	.	.	ENSG00000164708	ENST00000297283	D	0.84730	-1.89	5.93	5.93	0.95920	Histidine phosphatase superfamily, clade-1 (2);	0.044840	0.85682	N	0.000000	D	0.93943	0.8061	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94400	0.7622	10	0.72032	D	0.01	-71.5957	17.9021	0.88907	0.0:1.0:0.0:0.0	.	53	P15259	PGAM2_HUMAN	H	53	ENSP00000297283:D53H	ENSP00000297283:D53H	D	-	1	0	PGAM2	44071497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.833000	0.97629	0.650000	0.86243	GAC	PGAM2	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	ENSG00000164708		0.612	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM2	HGNC	protein_coding	OTTHUMT00000339614.1	59	0.00	0	C			44104972	44104972	-1	no_errors	ENST00000297283	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	43	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	1.000	G
PRX	57716	genome.wustl.edu	37	19	40900968	40900968	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr19:40900968delG	ENST00000324001.7	-	7	3561	c.3291delC	c.(3289-3291)cccfs	p.P1097fs	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1097					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCACCTCGGGGATCTTAA	0.632																																						dbGAP											0													64.0	59.0	61.0					19																	40900968		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3291delC	19.37:g.40900968delG	ENSP00000326018:p.Pro1097fs		Q9BXL9|Q9HCF2	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1098fs	ENST00000324001.7	37	c.3291	CCDS33028.1	19																																																																																			PRX	-	NULL	ENSG00000105227		0.632	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	26	0.00	0	G	NM_020956		40900968	40900968	-1	no_errors	ENST00000324001	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	0.105	-
RAD51B	5890	genome.wustl.edu	37	14	68292285	68292285	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr14:68292285G>T	ENST00000487270.1	+	3	237	c.189G>T	c.(187-189)aaG>aaT	p.K63N	RAD51B_ENST00000471583.1_Missense_Mutation_p.K63N|RAD51B_ENST00000487861.1_Missense_Mutation_p.K63N|RAD51B_ENST00000390683.3_Missense_Mutation_p.K63N|RAD51B_ENST00000488612.1_Missense_Mutation_p.K63N	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	63	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTGCCCCAAAGATGCAAACGG	0.383								Direct reversal of damage																														dbGAP											0													91.0	89.0	90.0					14																	68292285		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.189G>T	14.37:g.68292285G>T	ENSP00000419471:p.Lys63Asn		O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.K63N	ENST00000487270.1	37	c.189	CCDS9789.1	14	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162077	0.38217	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000485181;ENST00000553334;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T;T;T	0.53423	1.11;1.16;1.19;1.15;0.62;0.84;1.15	5.73	2.45	0.29901	.	0.734425	0.12889	N	0.430761	T	0.35941	0.0949	L	0.29908	0.895	0.28021	N	0.934502	P;P;P;P;B;B	0.44344	0.833;0.728;0.546;0.491;0.321;0.137	B;B;B;B;B;B	0.43508	0.422;0.331;0.109;0.187;0.109;0.077	T	0.21655	-1.0239	10	0.62326	D	0.03	-0.5467	5.7571	0.18178	0.3959:0.0:0.6041:0.0	.	63;63;63;63;63;63	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	N	63	ENSP00000419881:K63N;ENSP00000418859:K63N;ENSP00000419471:K63N;ENSP00000420061:K63N;ENSP00000417948:K63N;ENSP00000452044:K63N;ENSP00000375101:K63N	ENSP00000343531:K63N	K	+	3	2	RAD51B	67362038	0.991000	0.36638	0.986000	0.45419	0.993000	0.82548	1.031000	0.30165	0.893000	0.36288	0.557000	0.71058	AAG	RAD51B	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like	ENSG00000182185		0.383	RAD51B-004	KNOWN	basic|CCDS	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349063.1	76	0.00	0	G			68292285	68292285	+1	no_errors	ENST00000487270	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	0.966	T
SERPINI2	5276	genome.wustl.edu	37	3	167183403	167183403	+	Silent	SNP	C	C	G			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr3:167183403C>G	ENST00000476257.1	-	5	835	c.537G>C	c.(535-537)ctG>ctC	p.L179L	SERPINI2_ENST00000264677.4_Silent_p.L179L|SERPINI2_ENST00000461846.1_Silent_p.L179L|SERPINI2_ENST00000471111.1_Silent_p.L179L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	179					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L179L(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TAGCATTCACCAGGACAAGCC	0.383																																						dbGAP											1	Substitution - coding silent(1)	urinary_tract(1)											51.0	52.0	51.0					3																	167183403		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.537G>C	3.37:g.167183403C>G				Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L179	ENST00000476257.1	37	c.537	CCDS3200.1	3																																																																																			SERPINI2	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000114204		0.383	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINI2	HGNC	protein_coding	OTTHUMT00000350450.1	78	0.00	0	C	NM_006217		167183403	167183403	-1	no_errors	ENST00000264677	ensembl	human	known	69_37n	silent	38	24.00	12	SNP	1.000	G
SLIT2	9353	genome.wustl.edu	37	4	20555534	20555534	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr4:20555534G>C	ENST00000504154.1	+	26	2920	c.2668G>C	c.(2668-2670)Gga>Cga	p.G890R	SLIT2_ENST00000503823.1_Missense_Mutation_p.G882R|SLIT2_ENST00000503837.1_Missense_Mutation_p.G886R|SLIT2_ENST00000273739.5_Missense_Mutation_p.G894R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	890	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCTGGTCCTGGAGAAATGGC	0.393																																						dbGAP											0													126.0	121.0	123.0					4																	20555534		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2668G>C	4.37:g.20555534G>C	ENSP00000422591:p.Gly890Arg		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.G890R	ENST00000504154.1	37	c.2668	CCDS3426.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.71|17.71	3.457722|3.457722	0.63401|0.63401	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508|ENST00000509941	T;T;T;T;D|.	0.88124|.	-1.35;-1.37;-1.3;-1.33;-2.34|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Cysteine-rich flanking region, C-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49474|0.49474	0.1559|0.1559	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	B;B|.	0.16396|.	0.015;0.017|.	B;B|.	0.19946|.	0.009;0.027|.	T|T	0.44559|0.44559	-0.9320|-0.9320	10|5	0.25106|.	T|.	0.35|.	.|.	18.9405|18.9405	0.92604|0.92604	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	882;890|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	R|S	882;890;894;886;886;91|20	ENSP00000427548:G882R;ENSP00000422591:G890R;ENSP00000273739:G894R;ENSP00000422261:G886R;ENSP00000421975:G91R|.	ENSP00000273739:G894R|.	G|W	+|+	1|2	0|0	SLIT2|SLIT2	20164632|20164632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.720000|5.720000	0.68470|0.68470	2.546000|2.546000	0.85860|0.85860	0.460000|0.460000	0.39030|0.39030	GGA|TGG	SLIT2	-	pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C	ENSG00000145147		0.393	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	72	0.00	0	G			20555534	20555534	+1	no_errors	ENST00000504154	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	1.000	C
TBX20	57057	genome.wustl.edu	37	7	35244129	35244129	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr7:35244129C>T	ENST00000408931.3	-	7	1482	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	319					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						ATCTTCTTCTCCTCCGTAGGT	0.483																																						dbGAP											0													82.0	77.0	79.0					7																	35244129		1937	4139	6076	-	-	-	SO:0001583	missense	0			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.956G>A	7.37:g.35244129C>T	ENSP00000386170:p.Gly319Glu		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.G319E	ENST00000408931.3	37	c.956	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705412	0.48412	.	.	ENSG00000164532	ENST00000408931	D	0.87412	-2.25	5.6	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	N	0.04508	-0.205	0.58432	D	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.63479	-0.6628	10	0.06625	T	0.88	.	11.91	0.52733	0.0:0.9182:0.0:0.0818	.	319	Q9UMR3	TBX20_HUMAN	E	319	ENSP00000386170:G319E	ENSP00000386170:G319E	G	-	2	0	TBX20	35210654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.627000	0.61276	1.315000	0.45114	0.591000	0.81541	GGA	TBX20	-	NULL	ENSG00000164532		0.483	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	51	0.00	0	C	NM_020417		35244129	35244129	-1	no_errors	ENST00000408931	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	T
TOB1	10140	genome.wustl.edu	37	17	48940939	48940939	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr17:48940939G>A	ENST00000268957.3	-	3	868	c.440C>T	c.(439-441)tCa>tTa	p.S147L	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000499247.2_Missense_Mutation_p.S147L	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	147					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGACACTGATGAGGCTGGGTC	0.488											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(144;643 1919 24513 29423 40686)	dbGAP											0													104.0	89.0	94.0					17																	48940939		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.440C>T	17.37:g.48940939G>A	ENSP00000268957:p.Ser147Leu	958	B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.S147L	ENST00000268957.3	37	c.440	CCDS11576.1	17	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506169	0.44558	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.47528	0.84;0.84	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	M	0.74258	2.255	0.80722	D	1	B	0.22800	0.075	B	0.17433	0.018	T	0.54111	-0.8342	10	0.72032	D	0.01	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	147	P50616	TOB1_HUMAN	L	147	ENSP00000427695:S147L;ENSP00000268957:S147L	ENSP00000268957:S147L	S	-	2	0	TOB1	46295938	1.000000	0.71417	0.980000	0.43619	0.980000	0.70556	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	TCA	TOB1	-	NULL	ENSG00000141232		0.488	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TOB1	HGNC	protein_coding	OTTHUMT00000368364.1	58	0.00	0	G			48940939	48940939	-1	no_errors	ENST00000268957	ensembl	human	known	69_37n	missense	37	11.90	5	SNP	1.000	A
TTI1	9675	genome.wustl.edu	37	20	36641777	36641777	+	Silent	SNP	G	G	A			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr20:36641777G>A	ENST00000373448.2	-	3	680	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.L148L|TTI1_ENST00000449821.1_Silent_p.L148L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	148					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAACGTGGCAGAATGGAGGGC	0.413																																						dbGAP											0													78.0	77.0	77.0					20																	36641777		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.442C>T	20.37:g.36641777G>A			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.L148	ENST00000373448.2	37	c.442	CCDS13300.1	20																																																																																			TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.413	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	34	0.00	0	G	NM_014657		36641777	36641777	-1	no_errors	ENST00000373447	ensembl	human	known	69_37n	silent	23	17.86	5	SNP	1.000	A
ULK1	8408	genome.wustl.edu	37	12	132403858	132403858	+	Frame_Shift_Del	DEL	G	G	-	rs565929592	byFrequency	TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr12:132403858delG	ENST00000321867.4	+	24	2964	c.2613delG	c.(2611-2613)gcgfs	p.A871fs	ULK1_ENST00000540647.1_Frame_Shift_Del_p.A116fs	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	871					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GTGAGGCGGCGGGGGGCCCTG	0.687																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2613delG	12.37:g.132403858delG	ENSP00000324560:p.Ala871fs		Q9UQ28	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G873fs	ENST00000321867.4	37	c.2613	CCDS9274.1	12																																																																																			ULK1	-	pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000177169		0.687	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	10	0.00	0	G			132403858	132403858	+1	no_errors	ENST00000321867	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.001	-
ZNF701	55762	genome.wustl.edu	37	19	53079273	53079273	+	Splice_Site	SNP	G	G	A			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr19:53079273G>A	ENST00000540331.1	+	4	564	c.339G>A	c.(337-339)ctG>ctA	p.L113L	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Splice_Site_p.L113L|ZNF701_ENST00000391785.3_Splice_Site_p.L47L	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	113	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGGTCTCCCTGGGTGAGGATA	0.493																																					NSCLC(89;451 1475 9611 20673 52284)	dbGAP											0													47.0	51.0	50.0					19																	53079273		2176	4213	6389	-	-	-	SO:0001630	splice_region_variant	0			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.340+1G>A	19.37:g.53079273G>A			A2RRM8|B9EGF2|F5GZM6|Q66K42	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L113	ENST00000540331.1	37	c.339	CCDS54311.1	19																																																																																			ZNF701	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000167562		0.493	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF701	HGNC	protein_coding	OTTHUMT00000463467.1	56	0.00	0	G	NM_018260	Silent	53079273	53079273	+1	no_errors	ENST00000301093	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	0.988	A
ZZEF1	23140	genome.wustl.edu	37	17	3975955	3975955	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1IX-01A-12D-A142-09	TCGA-EW-A1IX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	01ea194f-dc06-4e15-9b9e-1c73668040e0	034e0751-b08d-4f11-8c52-a7e4f1267f47	g.chr17:3975955C>G	ENST00000381638.2	-	25	3905	c.3781G>C	c.(3781-3783)Gag>Cag	p.E1261Q		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1261							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AATTCCAACTCTGGACAAACC	0.458																																						dbGAP											0													112.0	106.0	108.0					17																	3975955		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3781G>C	17.37:g.3975955C>G	ENSP00000371051:p.Glu1261Gln		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.E1261Q	ENST00000381638.2	37	c.3781	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383160	0.61845	.	.	ENSG00000074755	ENST00000381638	T	0.21932	1.98	5.54	3.47	0.39725	.	0.321394	0.33650	N	0.004681	T	0.20618	0.0496	L	0.54323	1.7	0.32189	N	0.579347	B	0.12013	0.005	B	0.12837	0.008	T	0.13953	-1.0490	10	0.41790	T	0.15	-9.9506	11.5885	0.50933	0.0:0.8082:0.1243:0.0675	.	1261	O43149	ZZEF1_HUMAN	Q	1261	ENSP00000371051:E1261Q	ENSP00000371051:E1261Q	E	-	1	0	ZZEF1	3922704	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.423000	0.44705	1.582000	0.49881	0.650000	0.86243	GAG	ZZEF1	-	NULL	ENSG00000074755		0.458	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	70	0.00	0	C	NM_015113		3975955	3975955	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	G
