#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
COLGALT2	23127	genome.wustl.edu	37	1	183913443	183913443	+	Silent	SNP	C	C	T	rs200107460		TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr1:183913443C>T	ENST00000361927.4	-	10	1655	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E	COLGALT2_ENST00000367520.3_Silent_p.E165E|COLGALT2_ENST00000367521.1_Silent_p.E36E|COLGALT2_ENST00000546159.1_Silent_p.E428E	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	428					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TCTTCTCTAGCTCTCGATCAA	0.373																																							0											0													96.0	91.0	93.0					1																	183913443		2203	4300	6503	SO:0001819	synonymous_variant	0			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1284G>A	1.37:g.183913443C>T			O60327|Q9BZR0	Silent	SNP	pfam_Glyco_trans_25	p.E428	ENST00000361927.4	37	c.1284	CCDS1360.1	1																																																																																			0	pfam_Glyco_trans_25		0.373	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLGALT2	protein_coding	OTTHUMT00000086128.1	36	192	0	0.00	0	0	C	NM_015101	rs200107460	C->T		183913443	-1	no_errors	ENST00000361927	ensembl	human	known	74_37	silent	36	185	21.74	15.91	10	35	SNP	0.95	T
PIK3C2B	5287	genome.wustl.edu	37	1	204410672	204410672	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr1:204410672G>A	ENST00000367187.3	-	22	3732	c.3176C>T	c.(3175-3177)tCc>tTc	p.S1059F	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S1031F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1059					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GACAGCATTGGAGTTGAAGTA	0.502																																							0											0													110.0	107.0	108.0					1																	204410672		2203	4300	6503	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3176C>T	1.37:g.204410672G>A	ENSP00000356155:p.Ser1059Phe		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S1059F	ENST00000367187.3	37	c.3176	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912079	0.92178	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.87887	-2.31;-2.31	5.73	5.73	0.89815	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95037	0.8393	M	0.89968	3.075	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.95434	0.8519	10	0.87932	D	0	.	19.505	0.95111	0.0:0.0:1.0:0.0	.	1031;1059	F5GWN5;O00750	.;P3C2B_HUMAN	F	1059;1031	ENSP00000356155:S1059F;ENSP00000400561:S1031F	ENSP00000356155:S1059F	S	-	2	0	PIK3C2B	202677295	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.691000	0.91804	0.650000	0.86243	TCC	0	superfamily_Kinase-like_dom		0.502	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	protein_coding	OTTHUMT00000087965.1	28	132	0	0.00	0	0	G	NM_002646	0	0		204410672	-1	no_errors	ENST00000367187	ensembl	human	known	74_37	missense	30	152	21.05	16.76	8	31	SNP	1	A
KIDINS220	57498	genome.wustl.edu	37	2	8871364	8871364	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr2:8871364T>C	ENST00000256707.3	-	30	4983	c.4802A>G	c.(4801-4803)aAt>aGt	p.N1601S	KIDINS220_ENST00000418530.1_Missense_Mutation_p.N1502S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.N1582S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.N1582S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1601					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CGCCACTTCATTGTGCAGAGA	0.483																																							0											0													84.0	81.0	82.0					2																	8871364		2034	4192	6226	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4802A>G	2.37:g.8871364T>C	ENSP00000256707:p.Asn1601Ser		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N1601S	ENST00000256707.3	37	c.4802	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651377	0.29336	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.67865	-0.29;-0.28;-0.28;-0.28	5.92	4.77	0.60923	.	0.146965	0.64402	D	0.000008	T	0.53997	0.1831	L	0.27053	0.805	0.29538	N	0.852324	B;B;B	0.25235	0.001;0.001;0.121	B;B;B	0.25140	0.009;0.003;0.058	T	0.56183	-0.8021	10	0.72032	D	0.01	.	11.7631	0.51914	0.0:0.0683:0.0:0.9317	.	1502;1601;455	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	S	1601;1582;1502;1582	ENSP00000256707:N1601S;ENSP00000411849:N1582S;ENSP00000414923:N1502S;ENSP00000418974:N1582S	ENSP00000256707:N1601S	N	-	2	0	KIDINS220	8788815	1.000000	0.71417	0.885000	0.34714	0.333000	0.28666	3.788000	0.55446	1.075000	0.40932	0.533000	0.62120	AAT	0	NULL		0.483	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	protein_coding	OTTHUMT00000323408.2	29	137	0	0.00	0	0	T	NM_020738	0	0		8871364	-1	no_errors	ENST00000256707	ensembl	human	known	74_37	missense	17	163	39.29	16.41	11	32	SNP	1	C
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	315	93	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	331	97	15.56	23.02	61	29	SNP	1	A
PCLO	27445	genome.wustl.edu	37	7	82791768	82791768	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr7:82791768C>G	ENST00000333891.9	-	1	478	c.141G>C	c.(139-141)caG>caC	p.Q47H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q47H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCGCTCAGCTGGCTCAAAT	0.711																																							0											0													22.0	26.0	25.0					7																	82791768		2054	4181	6235	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.141G>C	7.37:g.82791768C>G	ENSP00000334319:p.Gln47His			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.Q47H	ENST00000333891.9	37	c.141	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216747	0.39201	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.22945	1.93;1.94	4.33	3.45	0.39498	.	.	.	.	.	T	0.22975	0.0555	N	0.24115	0.695	0.80722	D	1	P;P	0.40794	0.729;0.729	B;P	0.45138	0.351;0.471	T	0.05289	-1.0894	9	0.87932	D	0	.	12.0941	0.53744	0.0:0.9161:0.0:0.0839	.	47;47	Q9Y6V0-5;Q9Y6V0-6	.;.	H	47	ENSP00000334319:Q47H;ENSP00000388393:Q47H	ENSP00000334319:Q47H	Q	-	3	2	PCLO	82629704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.121000	0.31283	1.032000	0.39892	0.555000	0.69702	CAG	0	NULL		0.711	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	49	46	0	0.00	0	0	C	NM_014510	0	0		82791768	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	41	38	21.15	17.39	11	8	SNP	1	G
MKI67	4288	genome.wustl.edu	37	10	129905997	129905997	+	Silent	SNP	A	A	G			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr10:129905997A>G	ENST00000368654.3	-	13	4482	c.4107T>C	c.(4105-4107)acT>acC	p.T1369T	MKI67_ENST00000368653.3_Silent_p.T1009T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1369	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGGCATTTTAGTAGTTTTGC	0.517																																							0											0													116.0	114.0	115.0					10																	129905997		2203	4300	6503	SO:0001819	synonymous_variant	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4107T>C	10.37:g.129905997A>G			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T1369	ENST00000368654.3	37	c.4107	CCDS7659.1	10																																																																																			0	pfam_K167R		0.517	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	46	155	0	0.00	0	0	A	NM_002417	0	0		129905997	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	silent	36	182	14.29	10.34	6	21	SNP	0	G
DAGLA	747	genome.wustl.edu	37	11	61488195	61488195	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr11:61488195C>T	ENST00000257215.5	+	3	256	c.140C>T	c.(139-141)cCg>cTg	p.P47L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	47					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCTATAACCCGCACGAGGCC	0.627																																							0											0													92.0	84.0	87.0					11																	61488195		2202	4299	6501	SO:0001583	missense	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.140C>T	11.37:g.61488195C>T	ENSP00000257215:p.Pro47Leu		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.P47L	ENST00000257215.5	37	c.140	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863626	0.32884	.	.	ENSG00000134780	ENST00000257215	T	0.22336	1.96	4.43	4.43	0.53597	.	0.060679	0.64402	D	0.000002	T	0.09730	0.0239	N	0.08118	0	0.80722	D	1	P	0.47545	0.897	B	0.35859	0.212	T	0.23833	-1.0177	10	0.11794	T	0.64	-34.4299	17.4538	0.87600	0.0:1.0:0.0:0.0	.	47	Q9Y4D2	DGLA_HUMAN	L	47	ENSP00000257215:P47L	ENSP00000257215:P47L	P	+	2	0	DAGLA	61244771	1.000000	0.71417	0.959000	0.39883	0.925000	0.55904	7.220000	0.78008	2.175000	0.68902	0.561000	0.74099	CCG	0	NULL		0.627	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	protein_coding	OTTHUMT00000398516.1	24	102	0	0.00	0	0	C	NM_006133	0	0		61488195	1	no_errors	ENST00000257215	ensembl	human	known	74_37	missense	19	102	17.39	17.07	4	21	SNP	1	T
DYRK2	8445	genome.wustl.edu	37	12	68051696	68051696	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr12:68051696G>T	ENST00000344096.3	+	3	1422	c.1009G>T	c.(1009-1011)Gat>Tat	p.D337Y	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Missense_Mutation_p.D264Y	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GCAGTGCTTGGATGCTTTGCA	0.428																																							0											0													114.0	109.0	111.0					12																	68051696		2203	4300	6503	SO:0001583	missense	0			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1009G>T	12.37:g.68051696G>T	ENSP00000342105:p.Asp337Tyr		B2R9V9|Q9BRB5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D337Y	ENST00000344096.3	37	c.1009	CCDS8978.1	12	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374969	0.61735	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.66460	-0.21;-0.21	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.088948	0.85682	D	0.000000	T	0.73892	0.3645	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.71097	-0.4691	9	.	.	.	.	19.427	0.94746	0.0:0.0:1.0:0.0	.	337	Q92630	DYRK2_HUMAN	Y	337;264	ENSP00000342105:D337Y;ENSP00000377186:D264Y	.	D	+	1	0	DYRK2	66337963	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.678000	0.91216	0.305000	0.20034	GAT	0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.428	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK2	protein_coding	OTTHUMT00000402218.1	41	193	0	0.00	0	0	G		0	0		68051696	1	no_errors	ENST00000344096	ensembl	human	known	74_37	missense	26	158	15.62	20.20	5	40	SNP	1	T
FZD10	11211	genome.wustl.edu	37	12	130649201	130649201	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr12:130649201G>A	ENST00000229030.4	+	1	2198	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	572					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGGGAAATATGAGATCCCTGC	0.552																																							0											0													21.0	25.0	24.0					12																	130649201		2195	4294	6489	SO:0001583	missense	0			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1714G>A	12.37:g.130649201G>A	ENSP00000229030:p.Glu572Lys			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.E572K	ENST00000229030.4	37	c.1714	CCDS9267.1	12	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711650	0.48517	.	.	ENSG00000111432	ENST00000229030	T	0.75938	-0.98	4.5	4.5	0.54988	.	0.300126	0.30177	U	0.010230	T	0.65943	0.2740	L	0.29908	0.895	0.80722	D	1	P	0.46987	0.888	P	0.44561	0.453	T	0.63129	-0.6706	10	0.13470	T	0.59	.	17.1968	0.86894	0.0:0.0:1.0:0.0	.	572	Q9ULW2	FZD10_HUMAN	K	572	ENSP00000229030:E572K	ENSP00000229030:E572K	E	+	1	0	FZD10	129215154	1.000000	0.71417	0.044000	0.18714	0.354000	0.29330	9.108000	0.94275	2.018000	0.59344	0.561000	0.74099	GAG	0	NULL		0.552	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	protein_coding		13	99	0	0.00	0	0	G		0	0		130649201	1	no_errors	ENST00000229030	ensembl	human	known	74_37	missense	21	130	25	10.34	7	15	SNP	1	A
DYNC1H1	1778	genome.wustl.edu	37	14	102505407	102505407	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr14:102505407G>A	ENST00000360184.4	+	60	11440	c.11276G>A	c.(11275-11277)cGc>cAc	p.R3759H	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3759	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTGAAAGGGCGCATTTTGGAT	0.468																																							0											0													104.0	100.0	101.0					14																	102505407		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11276G>A	14.37:g.102505407G>A	ENSP00000348965:p.Arg3759His		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R3759H	ENST00000360184.4	37	c.11276	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.726298	0.96847	.	.	ENSG00000197102	ENST00000360184	T	0.60424	0.19	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	N	0.24115	0.695	0.80722	D	1	D	0.62365	0.991	P	0.58266	0.836	T	0.66744	-0.5846	10	0.87932	D	0	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	3759	Q14204	DYHC1_HUMAN	H	3759	ENSP00000348965:R3759H	ENSP00000348965:R3759H	R	+	2	0	DYNC1H1	101575160	1.000000	0.71417	0.951000	0.38953	0.929000	0.56500	9.869000	0.99810	2.700000	0.92200	0.561000	0.74099	CGC	0	superfamily_P-loop_NTPase		0.468	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	24	147	0	1.34	0	2	G	NM_001376	0	0		102505407	1	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	33	183	13.16	16.44	5	36	SNP	1	A
GRIN2A	2903	genome.wustl.edu	37	16	9857896	9857896	+	Missense_Mutation	SNP	G	G	A	rs369878342		TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr16:9857896G>A	ENST00000396573.2	-	14	3814	c.3505C>T	c.(3505-3507)Cgg>Tgg	p.R1169W	GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1169W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1169W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1169W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1169W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R1012W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1169					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAGGGGTTCCGGTTCATTGGC	0.532																																							0											0								G	TRP/ARG,TRP/ARG,TRP/ARG	0,4394		0,0,2197	148.0	150.0	149.0		3505,3505,3505	0.3	0.1	16		149	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GRIN2A	NM_000833.3,NM_001134407.1,NM_001134408.1	101,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1169/1465,1169/1465,1169/1282	9857896	1,12993	2197	4300	6497	SO:0001583	missense	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3505C>T	16.37:g.9857896G>A	ENSP00000379818:p.Arg1169Trp		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R1169W	ENST00000396573.2	37	c.3505	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	G	8.043	0.764204	0.15914	0.0	1.16E-4	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12361	2.71;2.69;2.7;2.71;2.71	5.31	0.289	0.15723	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.205991	0.48286	D	0.000193	T	0.30916	0.0780	M	0.61703	1.905	0.36118	D	0.845283	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.928;0.975;0.997	T	0.09574	-1.0668	9	.	.	.	.	13.9497	0.64109	0.0:0.0:0.4355:0.5645	.	1012;1169;1169	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	W	1169;1169;1012;1169;1169	ENSP00000379818:R1169W;ENSP00000385872:R1169W;ENSP00000441572:R1012W;ENSP00000332549:R1169W;ENSP00000379820:R1169W	.	R	-	1	2	GRIN2A	9765397	1.000000	0.71417	0.081000	0.20488	0.005000	0.04900	1.733000	0.38156	-0.230000	0.09840	-0.188000	0.12872	CGG	0	pfam_NMDAR2_C		0.532	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	protein_coding	OTTHUMT00000251930.3	48	188	0	0.00	0	0	G		rs369878342	G->A		9857896	-1	no_errors	ENST00000330684	ensembl	human	known	74_37	missense	51	204	7.27	6.82	4	15	SNP	1	A
ZNF776	284309	genome.wustl.edu	37	19	58265229	58265229	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr19:58265229T>G	ENST00000317178.5	+	3	994	c.731T>G	c.(730-732)tTc>tGc	p.F244C		NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TCTGGGAAATTCACTAGCAAA	0.408																																							0											0													66.0	68.0	67.0					19																	58265229		2203	4300	6503	SO:0001583	missense	0			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.731T>G	19.37:g.58265229T>G	ENSP00000321812:p.Phe244Cys		Q6ZS36|Q8N968	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F244C	ENST00000317178.5	37	c.731	CCDS12962.2	19	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438374	0.25900	.	.	ENSG00000152443	ENST00000317178	T	0.60548	0.18	1.79	0.624	0.17659	Zinc finger, C2H2 (1);	.	.	.	.	T	0.46249	0.1383	N	0.10733	0.035	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.58820	0.846;0.747	T	0.30880	-0.9963	9	0.59425	D	0.04	.	4.0278	0.09695	0.0:0.3913:0.4224:0.1863	.	244;244	Q68DI1;B4DSC6	ZN776_HUMAN;.	C	244	ENSP00000321812:F244C	ENSP00000321812:F244C	F	+	2	0	ZNF776	62957041	0.794000	0.28838	0.007000	0.13788	0.044000	0.14063	0.912000	0.28597	0.045000	0.15804	0.254000	0.18369	TTC	0	pfscan_Znf_C2H2		0.408	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF776	protein_coding	OTTHUMT00000346722.2	58	187	0	0.53	0	1	T	NM_173632	0	0		58265229	1	no_errors	ENST00000317178	ensembl	human	known	74_37	missense	53	200	8.62	9.50	5	21	SNP	0.017	G
KDM2B	84678	genome.wustl.edu	37	12	121880103	121880103	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr12:121880103delG	ENST00000377071.4	-	19	3213	c.3141delC	c.(3139-3141)cccfs	p.P1047fs	KDM2B_ENST00000542973.1_Frame_Shift_Del_p.P415fs|KDM2B_ENST00000377069.4_Frame_Shift_Del_p.P978fs|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1047	Pro-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGGGGCTGATGGGGGGTGGCC	0.687																																							0											0													13.0	15.0	15.0					12																	121880103		1907	4092	5999	SO:0001589	frameshift_variant	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3141delC	12.37:g.121880103delG	ENSP00000366271:p.Pro1047fs		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Frame_Shift_Del	DEL	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.I1048fs	ENST00000377071.4	37	c.3141	CCDS41850.1	12																																																																																			0	NULL		0.687	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	protein_coding	OTTHUMT00000402132.2	26	17	0	0.00	0	0	G	NM_032590	0	0		121880103	-1	no_errors	ENST00000377071	ensembl	human	known	74_37	frame_shift_del	36	17	7.69	10.53	3	2	DEL	1	0
ZNF649	65251	genome.wustl.edu	37	19	52393919	52393920	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	CA	CA	CA	-	CA	CA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr19:52393919_52393920delCA	ENST00000354957.3	-	5	1753_1754	c.1469_1470delTG	c.(1468-1470)gtgfs	p.V490fs	ZNF649_ENST00000600738.1_Frame_Shift_Del_p.V462fs|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000485702.1_5'Flank|ZNF577_ENST00000301399.5_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		ccaccaTTGCCACAGTTACCAT	0.48																																							0											0																																										SO:0001589	frameshift_variant	0			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1469_1470delTG	19.37:g.52393921_52393922delCA	ENSP00000347043:p.Val490fs		A8MYJ5|B2RDC4|Q9H9N2	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V490fs	ENST00000354957.3	37	c.1470_1469	CCDS12843.1	19																																																																																			0	NULL		0.480	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF649	protein_coding	OTTHUMT00000461097.1	36	116	0	0.85	0	1	CA	NM_023074	0	0		52393920	-1	no_errors	ENST00000354957	ensembl	human	known	74_37	frame_shift_del	41	137	19.61	14.91	10	24	DEL	0.921:0.904	0
