#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_Chromosome_hg18	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_End_position_hg18	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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	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_reference	i_refseq_mrna_id	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_type	i_ucsc_cons	i_variant
TCEAL3	85012	genome.wustl.edu	37	X	102864442	102864442	+	Silent	SNP	A	A	G			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chrX:102864442A>G	ENST00000372628.1	+	3	808	c.450A>G	c.(448-450)caA>caG	p.Q150Q	TCEAL3_ENST00000243286.3_Silent_p.Q150Q|TCEAL3_ENST00000372627.5_Silent_p.Q150Q|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q150Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CAAGGGCTCAAGAGGAGCTAA	0.512																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	X											293.0	254.0	267.0					X																	102864442		2203	4300	6503	102751098	SO:0001819	synonymous_variant	0			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.450A>G	X.37:g.102864442A>G		128	3.03	4		4	0.00	0	102751098	189	16.67	38	D3DXA4	Silent	SNP	HMMPfam_TFA	p.Q150	ENST00000372628.1	37	c.450	CCDS14511.1	X																																																																																			-	HMMPfam_TFA		0.512	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL3	protein_coding	OTTHUMT00000057737.1	A	NM_032926		102751098	+1	no_errors	NM_001006933.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
CNOT6L	246175	genome.wustl.edu	37	4	78647521	78647521	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr4:78647521C>T	ENST00000504123.1	-	11	1385	c.1255G>A	c.(1255-1257)Gtt>Att	p.V419I	CNOT6L_ENST00000264903.4_Missense_Mutation_p.V419I			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	419	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TATTCCACAACACCTGGTAGA	0.413																																						dbGAP											0			4											102.0	84.0	90.0					4																	78647521		1885	4114	5999	78866545	SO:0001583	missense	0			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1255G>A	4.37:g.78647521C>T	ENSP00000424896:p.Val419Ile	72	3.95	3		8	27.27	3	78866545	87	30.40	38	Q9UF92	Missense_Mutation	SNP	HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_Exo_endo_phos,superfamily_DNase I-like,superfamily_L domain-like	p.V419I	ENST00000504123.1	37	c.1255		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.220397|5.220397	0.95139|0.95139	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|T;T;T;T	.|0.80653	.|-1.4;-1.4;-1.4;-1.4	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90614|0.90614	0.7057|0.7057	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.997;0.999	.|D;D	.|0.78314	.|0.978;0.991	D|D	0.91118|0.91118	0.4927|0.4927	5|10	.|0.87932	.|D	.|0	-3.2432|-3.2432	19.8841|19.8841	0.96908|0.96908	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|392;419	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	Y|I	447|419;419;426;194	.|ENSP00000424896:V419I;ENSP00000264903:V419I;ENSP00000425571:V426I;ENSP00000426320:V194I	.|ENSP00000264903:V419I	C|V	-|-	2|1	0|0	CNOT6L|CNOT6L	78866545|78866545	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.792000|7.792000	0.85828|0.85828	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	TGT|GTT	-	HMMPfam_Exo_endo_phos,superfamily_DNase I-like		0.413	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	CNOT6L	protein_coding	OTTHUMT00000362515.1	C			78866545	-1	no_errors	NM_144571.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
EGFLAM	133584	genome.wustl.edu	37	5	38451544	38451544	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr5:38451544G>A	ENST00000354891.3	+	20	3041	c.2695G>A	c.(2695-2697)Gga>Aga	p.G899R	EGFLAM_ENST00000514476.1_Missense_Mutation_p.G34R|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G657R|EGFLAM_ENST00000397210.3_Missense_Mutation_p.G34R|EGFLAM_ENST00000506135.1_Missense_Mutation_p.G34R|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G257R|EGFLAM_ENST00000322350.5_Missense_Mutation_p.G891R	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	899	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTTCGGGATGGAGCCCTCGT	0.532																																					Colon(62;485 1295 3347 17454)	dbGAP											0			5											161.0	140.0	147.0					5																	38451544		2203	4300	6503	38487301	SO:0001583	missense	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2695G>A	5.37:g.38451544G>A	ENSP00000346964:p.Gly899Arg	89	3.19	3		NA	NA	NA	38487301	76	30.28	33	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	HMMSmart_LamG,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_EGF,HMMSmart_EGF,superfamily_FN_III-like,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2	p.G891R	ENST00000354891.3	37	c.2671	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979461	0.92982	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000508131;ENST00000514476	D;D;D;D;T;T;D;T	0.88201	-2.35;-2.35;-2.35;-2.35;-0.94;-0.94;-2.35;-0.94	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95064	0.8198	10	0.56958	D	0.05	-2.1229	19.3082	0.94173	0.0:0.0:1.0:0.0	.	657;899;891	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	R	899;891;657;257;657;34;34;34;34	ENSP00000346964:G899R;ENSP00000313084:G891R;ENSP00000337607:G657R;ENSP00000380385:G257R;ENSP00000380393:G34R;ENSP00000425579:G34R;ENSP00000427228:G34R;ENSP00000423228:G34R	ENSP00000313084:G891R	G	+	1	0	EGFLAM	38487301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.431000	0.97494	2.649000	0.89929	0.650000	0.86243	GGA	-	HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2		0.532	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	protein_coding	OTTHUMT00000367323.1	G	NM_152403		38487301	+1	no_errors	NM_152403.2	genbank	human	validated	54_36p	missense	SNP	1.000	A
PTPRD	5789	genome.wustl.edu	37	9	8376658	8376658	+	Silent	SNP	A	A	G			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr9:8376658A>G	ENST00000381196.4	-	35	4998	c.4455T>C	c.(4453-4455)ctT>ctC	p.L1485L	PTPRD_ENST00000537002.1_Silent_p.L1075L|PTPRD_ENST00000358503.5_Silent_p.L1463L|PTPRD_ENST00000397606.3_Silent_p.L1078L|PTPRD_ENST00000486161.1_Silent_p.L1078L|PTPRD_ENST00000540109.1_Silent_p.L1485L|PTPRD_ENST00000397617.3_Silent_p.L1078L|PTPRD_ENST00000360074.4_Silent_p.L1472L|PTPRD_ENST00000355233.5_Silent_p.L1079L|PTPRD_ENST00000397611.3_Silent_p.L1075L|PTPRD_ENST00000356435.5_Silent_p.L1485L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1485	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCACAGTATCAAGCAGCGTTA	0.438										TSP Lung(15;0.13)																												dbGAP											0			9											198.0	155.0	170.0					9																	8376658		2203	4300	6503	8366658	SO:0001819	synonymous_variant	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4455T>C	9.37:g.8376658A>G		104	4.50	5		NA	NA	NA	8366658	112	47.66	102	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,PatternScan_TYR_PHOSPHATASE_1,superfamily_Immunoglobulin,superfamily_(Phosphotyrosine protein) phosphatases II	p.L1485	ENST00000381196.4	37	c.4455	CCDS43786.1	9																																																																																			-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II		0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	protein_coding	OTTHUMT00000055395.3	A			8366658	-1	no_errors	NM_002839.1	genbank	human	reviewed	54_36p	silent	SNP	0.168	G
LRIT1	26103	genome.wustl.edu	37	10	85991750	85991750	+	Missense_Mutation	SNP	C	C	T	rs375523621		TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr10:85991750C>T	ENST00000372105.3	-	4	1826	c.1805G>A	c.(1804-1806)cGt>cAt	p.R602H		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	602						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CACACTGGAACGAGCTGAGAG	0.567																																						dbGAP											0			10						C	HIS/ARG	0,4406		0,0,2203	79.0	62.0	68.0		1805	2.5	0.0	10		68	2,8598	2.2+/-6.3	0,2,4298	no	missense	LRIT1	NM_015613.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	602/624	85991750	2,13004	2203	4300	6503	85981730	SO:0001583	missense	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1805G>A	10.37:g.85991750C>T	ENSP00000361177:p.Arg602His	22	0.00	0		NA	NA	NA	85981730	32	25.58	11	Q0QD41|Q9Y4N7	Missense_Mutation	SNP	HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_ig,superfamily_SSF48726,superfamily_SSF52058	p.R602H	ENST00000372105.3	37	c.1805	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409639	0.42715	0.0	2.33E-4	ENSG00000148602	ENST00000372105	T	0.54675	0.56	5.37	2.45	0.29901	.	0.054759	0.85682	D	0.000000	T	0.68183	0.2973	M	0.76574	2.34	0.21553	N	0.999649	D	0.89917	1.0	D	0.79784	0.993	T	0.59883	-0.7370	10	0.87932	D	0	.	9.971	0.41754	0.0:0.668:0.2597:0.0723	.	602	Q9P2V4	LRIT1_HUMAN	H	602	ENSP00000361177:R602H	ENSP00000361177:R602H	R	-	2	0	LRIT1	85981730	0.408000	0.25360	0.000000	0.03702	0.204000	0.24138	2.951000	0.49089	0.374000	0.24650	0.591000	0.81541	CGT	-	NULL		0.567	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	protein_coding	OTTHUMT00000049109.1	C	NM_015613		85981730	-1	no_errors	NM_015613.2	genbank	human	validated	54_36p	missense	SNP	0.670	T
CYP4F12	66002	genome.wustl.edu	37	19	15794469	15794469	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr19:15794469C>T	ENST00000550308.1	+	7	1194	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R272W	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	272					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CGCTGTCATCCGGGAGCGGCG	0.537																																						dbGAP											0			19											91.0	91.0	91.0					19																	15794469		2198	4298	6496	15655469	SO:0001583	missense	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.814C>T	19.37:g.15794469C>T	ENSP00000448998:p.Arg272Trp	87	5.38	5		NA	NA	NA	15655469	46	28.12	18	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.R272W	ENST00000550308.1	37	c.814	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	15.35	2.808696	0.50421	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69435	-0.4;-0.4	2.47	2.47	0.30058	.	0.278314	0.28877	U	0.013843	T	0.73024	0.3534	M	0.79693	2.465	0.29124	N	0.880043	D	0.60160	0.987	P	0.51453	0.67	T	0.71712	-0.4510	10	0.87932	D	0	.	11.0495	0.47878	0.0:1.0:0.0:0.0	.	272	Q9HCS2	CP4FC_HUMAN	W	272	ENSP00000448998:R272W;ENSP00000321821:R272W	ENSP00000321821:R272W	R	+	1	2	CYP4F12	15655469	1.000000	0.71417	0.996000	0.52242	0.352000	0.29268	1.897000	0.39799	1.686000	0.51046	0.491000	0.48974	CGG	-	HMMPfam_p450,superfamily_Cytochrome P450		0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	protein_coding	OTTHUMT00000378938.9	C			15655469	+1	no_errors	NM_023944.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ADNP	23394	genome.wustl.edu	37	20	49509105	49509105	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr20:49509105T>G	ENST00000396029.3	-	5	2713	c.2146A>C	c.(2146-2148)Aag>Cag	p.K716Q	ADNP_ENST00000396032.3_Missense_Mutation_p.K716Q|ADNP_ENST00000349014.3_Missense_Mutation_p.K716Q|ADNP_ENST00000371602.4_Missense_Mutation_p.K716Q	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	716					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TAAGTGCGCTTCACAGGTGCC	0.468																																						dbGAP											0			20											101.0	92.0	95.0					20																	49509105		2203	4300	6503	48942512	SO:0001583	missense	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2146A>C	20.37:g.49509105T>G	ENSP00000379346:p.Lys716Gln	45	6.25	3		47	44.71	38	48942512	71	37.17	42	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1	p.K716Q	ENST00000396029.3	37	c.2146	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628789	0.46944	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.07	6.07	0.98685	.	0.049173	0.85682	D	0.000000	T	0.50854	0.1640	L	0.43152	1.355	0.48762	D	0.999709	P	0.43094	0.799	B	0.36845	0.234	T	0.56390	-0.7987	9	0.59425	D	0.04	-18.7975	16.6407	0.85098	0.0:0.0:0.0:1.0	.	716	Q9H2P0	ADNP_HUMAN	Q	716	.	ENSP00000342905:K716Q	K	-	1	0	ADNP	48942512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.669000	0.61575	2.326000	0.78906	0.533000	0.62120	AAG	-	NULL		0.468	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	protein_coding	OTTHUMT00000079705.2	T	NM_181442		48942512	-1	no_errors	NM_015339.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RUNX1	861	genome.wustl.edu	37	21	36231783	36231783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr21:36231783G>A	ENST00000344691.4	-	3	2097	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RUNX1_ENST00000437180.1_Nonsense_Mutation_p.R201*|RUNX1_ENST00000399240.1_Nonsense_Mutation_p.R174*|RUNX1_ENST00000300305.3_Nonsense_Mutation_p.R201*|RUNX1_ENST00000358356.5_Nonsense_Mutation_p.R174*|RUNX1_ENST00000486278.2_Nonsense_Mutation_p.R177*|RUNX1_ENST00000325074.5_Nonsense_Mutation_p.R189*	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	174	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.		R -> Q (in FPDMM; impaired phosphorylation). {ECO:0000269|PubMed:10508512, ECO:0000269|PubMed:18695000}.		behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R201*(5)|p.R201G(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGAGGTTCTCGGGGCCCATCC	0.552			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	6	Substitution - Nonsense(5)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(5)|large_intestine(1)	21	GRCh37	CM992141	RUNX1	M							274.0	240.0	251.0					21																	36231783		2203	4300	6503	35153653	SO:0001587	stop_gained	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.520C>T	21.37:g.36231783G>A	ENSP00000340690:p.Arg174*	84	1.18	1		412	37.14	244	35153653	57	24.00	18	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Nonsense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R201*	ENST00000344691.4	37	c.601	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.081424	0.98643	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	.	.	.	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7194	12.147	0.54028	0.0:0.0:0.8085:0.1914	.	.	.	.	X	174;201;201;189;174;177;174;189;177	.	ENSP00000300305:R201X	R	-	1	2	RUNX1	35153653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.798000	0.47884	1.088000	0.41272	0.655000	0.94253	CGA	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.552	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	G			35153653	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
TBC1D10A	83874	genome.wustl.edu	37	22	30691731	30691732	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	-	-	-	C	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr22:30691731_30691732insC	ENST00000215790.7	-	4	682_683	c.518_519insG	c.(517-519)ggcfs	p.G173fs	TBC1D10A_ENST00000403362.1_Frame_Shift_Ins_p.G85fs|TBC1D10A_ENST00000403477.3_Frame_Shift_Ins_p.G180fs|RP1-130H16.18_ENST00000447976.1_Frame_Shift_Ins_p.G47fs	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	173	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTCACCCGTGGCCCCCCCGGGA	0.609																																						dbGAP											0			22																																								29021732	SO:0001589	frameshift_variant	0			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.519dupG	22.37:g.30691738_30691738dupC	ENSP00000215790:p.Gly173fs	16	0.00	0		14	0.00	0	29021731	32	11.11	4	B3KXT8|O76053|Q20WK7|Q543A2	Frame_Shift_Ins	INS	HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p	p.H174fs	ENST00000215790.7	37	c.519_518	CCDS13874.1	22																																																																																			-	HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p		0.609	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBC1D10A	protein_coding	OTTHUMT00000320550.1	-	NM_031937		29021732	-1	no_errors	NM_031937.1	genbank	human	provisional	54_36p	frame_shift_ins	INS	0.995:1.000	C
