#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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
RBM41	55285	genome.wustl.edu	37	X	106310914	106310914	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chrX:106310914A>C	ENST00000372479.3	-	7	1115	c.1085T>G	c.(1084-1086)aTa>aGa	p.I362R	RBM41_ENST00000372487.1_Missense_Mutation_p.I362R	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	362	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I362R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TTGCCATGCTATCTCCTTATC	0.313																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											124.0	115.0	118.0					X																	106310914		2203	4300	6503	106197570	SO:0001583	missense	0			BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1085T>G	X.37:g.106310914A>C	ENSP00000361557:p.Ile362Arg	Somatic	620	6.34	42		21	0.00	0	WXS	Illumina HiSeq	Phase_IV	106197570	693	43.75	539	Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD	p.I362R	ENST00000372479.3	37	c.1085	CCDS14526.1	X	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454111	0.26161	.	.	ENSG00000089682	ENST00000372487;ENST00000372479	T;T	0.15718	2.4;2.4	5.42	2.95	0.34219	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.522245	0.20394	N	0.093199	T	0.11707	0.0285	L	0.41824	1.3	0.26007	N	0.982039	B	0.20887	0.049	B	0.22601	0.04	T	0.32322	-0.9911	10	0.23302	T	0.38	.	3.9965	0.09561	0.7145:0.0:0.1003:0.1851	.	362	Q96IZ5	RBM41_HUMAN	R	362	ENSP00000361565:I362R;ENSP00000361557:I362R	ENSP00000361557:I362R	I	-	2	0	RBM41	106197570	0.790000	0.28787	0.487000	0.27428	0.831000	0.47069	1.907000	0.39897	0.201000	0.20466	0.417000	0.27973	ATA	-	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD		0.313	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM41	protein_coding	OTTHUMT00000057819.1	A	NM_018301		106197570	-1	no_errors	NM_018301.2	genbank	human	provisional	54_36p	missense	SNP	0.636	C
FRMPD3	84443	genome.wustl.edu	37	X	106841358	106841358	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chrX:106841358C>A	ENST00000276185.4	+	15	2348	c.2348C>A	c.(2347-2349)cCc>cAc	p.P783H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	783	Poly-Pro.					cytoskeleton (GO:0005856)		p.P832H(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CACCCACCACCCCCACAGACT	0.552																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											57.0	50.0	52.0					X																	106841358		876	1991	2867	106728014	SO:0001583	missense	0			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.2348C>A	X.37:g.106841358C>A	ENSP00000276185:p.Pro783His	Somatic	911	6.56	64		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	106728014	620	48.89	593	Q96JK8	Missense_Mutation	SNP	HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41	p.P783H	ENST00000276185.4	37	c.2348		X	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348222	0.61183	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.18810	2.19;2.22	4.96	4.96	0.65561	.	0.067538	0.64402	D	0.000009	T	0.32010	0.0815	L	0.46157	1.445	0.31255	N	0.693625	.	.	.	.	.	.	T	0.27297	-1.0078	8	0.66056	D	0.02	.	16.235	0.82365	0.0:1.0:0.0:0.0	.	.	.	.	H	783;731	ENSP00000276185:P783H;ENSP00000398668:P731H	ENSP00000276185:P783H	P	+	2	0	FRMPD3	106728014	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.271000	0.78506	2.290000	0.77057	0.506000	0.49869	CCC	-	NULL		0.552	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	protein_coding		C	XM_042978		106728014	+1	no_errors	XM_042978.1	genbank	human	model	54_36p	missense	SNP	1.000	A
GLRA1	2741	genome.wustl.edu	37	5	151304094	151304094	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr5:151304094G>A	ENST00000455880.2	-	1	303	c.17C>T	c.(16-18)aCt>aTt	p.T6I	GLRA1_ENST00000274576.4_Missense_Mutation_p.T6I|GLRA1_ENST00000545569.1_5'UTR|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	6					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)	p.T6I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGTCGAAGAGTATTGAAGCT	0.438																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											250.0	218.0	229.0					5																	151304094		2203	4300	6503	151284287	SO:0001583	missense	0				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.17C>T	5.37:g.151304094G>A	ENSP00000411593:p.Thr6Ile	Somatic	1322	5.43	76		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	151284287	852	41.68	609	B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL	p.T6I	ENST00000455880.2	37	c.17	CCDS54942.1	5	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586711	0.28268	.	.	ENSG00000145888	ENST00000274576;ENST00000455880	T;T	0.71579	-0.43;-0.58	5.23	5.23	0.72850	.	0.229367	0.39274	N	0.001412	T	0.57784	0.2077	N	0.19112	0.55	0.80722	D	1	B;B	0.20780	0.028;0.048	B;B	0.18871	0.01;0.023	T	0.53151	-0.8479	10	0.31617	T	0.26	.	16.9956	0.86367	0.0:0.0:1.0:0.0	.	6;6	P23415;P23415-2	GLRA1_HUMAN;.	I	6	ENSP00000274576:T6I;ENSP00000411593:T6I	ENSP00000274576:T6I	T	-	2	0	GLRA1	151284287	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.036000	0.70948	2.451000	0.82905	0.563000	0.77884	ACT	-	NULL		0.438	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA1	protein_coding	OTTHUMT00000373959.1	G			151284287	-1	no_errors	NM_000171.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
POU6F2	11281	genome.wustl.edu	37	7	39379315	39379315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr7:39379315C>T	ENST00000403058.1	+	6	740	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	POU6F2_ENST00000559001.1_Nonsense_Mutation_p.Q188*|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Nonsense_Mutation_p.Q196*	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q196*(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gcagcagcagcagcCTCCCCC	0.662																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	7											16.0	18.0	18.0					7																	39379315		2179	4271	6450	39345840	SO:0001587	stop_gained	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.586C>T	7.37:g.39379315C>T	ENSP00000384004:p.Gln196*	Somatic	415	3.03	13		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	39345840	223	45.39	187	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Nonsense_Mutation	SNP	HMMPfam_Pou,HMMSmart_SM00352,PatternScan_POU_1,PatternScan_POU_2,HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains	p.Q196*	ENST00000403058.1	37	c.586	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491805	0.84962	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	.	.	.	4.39	3.49	0.39957	.	0.611244	0.14344	U	0.325552	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	13.761	0.62966	0.0:0.8441:0.1558:0.0	.	.	.	.	X	196	.	ENSP00000384004:Q196X	Q	+	1	0	POU6F2	39345840	0.111000	0.22076	0.002000	0.10522	0.951000	0.60555	2.680000	0.46918	0.795000	0.33922	0.557000	0.71058	CAG	-	NULL		0.662	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	protein_coding	OTTHUMT00000320146.3	C	NM_007252		39345840	+1	no_errors	NM_007252.2	genbank	human	validated	54_36p	nonsense	SNP	0.001	T
RAD21	5885	genome.wustl.edu	37	8	117869560	117869560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr8:117869560C>A	ENST00000297338.2	-	6	921	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	212					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E212*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TATTGATCTTCATATTCTAAA	0.343																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	8											163.0	165.0	164.0					8																	117869560		2203	4300	6503	117938741	SO:0001587	stop_gained	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.634G>T	8.37:g.117869560C>A	ENSP00000297338:p.Glu212*	Somatic	788	2.48	20		46	2.13	1	WXS	Illumina HiSeq	Phase_IV	117938741	590	41.09	413	A8K0E0|Q15001|Q99568	Nonsense_Mutation	SNP	HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N	p.E212*	ENST00000297338.2	37	c.634	CCDS6321.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.666071	0.96745	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485	.	.	.	5.48	5.48	0.80851	.	0.059023	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	0.001	19.717	0.96124	0.0:1.0:0.0:0.0	.	.	.	.	X	212	.	ENSP00000297338:E212X	E	-	1	0	RAD21	117938741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.242000	0.78210	2.734000	0.93682	0.563000	0.77884	GAA	-	NULL		0.343	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	protein_coding	OTTHUMT00000381184.1	C	NM_006265		117938741	-1	no_errors	NM_006265.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
OR51S1	119692	genome.wustl.edu	37	11	4870245	4870245	+	Missense_Mutation	SNP	C	C	T	rs560546339		TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr11:4870245C>T	ENST00000322101.2	-	1	269	c.194G>A	c.(193-195)cGc>cAc	p.R65H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R65H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCATTGGGCGGTGCAGGGC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		20057	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											116.0	93.0	101.0					11																	4870245		2201	4298	6499	4826821	SO:0001583	missense	0			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.194G>A	11.37:g.4870245C>T	ENSP00000322754:p.Arg65His	Somatic	2114	4.55	101		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	4826821	1045	43.32	810	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_SPASE_I_1,superfamily_Family A G protein-coupled receptor-like	p.R65H	ENST00000322101.2	37	c.194	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380471	0.42207	.	.	ENSG00000176922	ENST00000322101	T	0.00333	8.07	4.85	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001041	T	0.00210	0.0006	L	0.39245	1.2	0.09310	N	1	B	0.19706	0.038	B	0.10450	0.005	T	0.47100	-0.9143	10	0.87932	D	0	-7.7271	3.4877	0.07626	0.1696:0.4654:0.0:0.365	.	65	Q8NGJ8	O51S1_HUMAN	H	65	ENSP00000322754:R65H	ENSP00000322754:R65H	R	-	2	0	OR51S1	4826821	0.000000	0.05858	0.003000	0.11579	0.688000	0.40055	-1.163000	0.03138	0.592000	0.29728	0.563000	0.77884	CGC	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.572	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	protein_coding	OTTHUMT00000142179.1	C	NM_001004758		4826821	-1	no_errors	NM_001004758.1	genbank	human	provisional	54_36p	missense	SNP	0.000	T
HMGN2P36	100874480	genome.wustl.edu	37	11	13632148	13632148	+	IGR	SNP	T	T	C			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr11:13632148T>C								PTH (114420 upstream) : FAR1 (58068 downstream)																							ACAGATCTTCTCTGTGGTTTG	0.502																																						dbGAP											0			11																																								13588724	SO:0001628	intergenic_variant	0																															11.37:g.13632148T>C		Somatic	709	5.34	40		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	13588724	426	47.86	391		Missense_Mutation	SNP	HMMPfam_HMG14_17,HMMSmart_SM00527	p.R36G		37	c.106		11																																																																																			-	HMMPfam_HMG14_17,HMMSmart_SM00527	0	0.502					LOC644992			T			13588724	-1	no_errors	XM_932569.1	genbank	human	model	54_36p	missense	SNP	0.983	C
KRT79	338785	genome.wustl.edu	37	12	53215780	53215780	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr12:53215780C>T	ENST00000330553.5	-	9	1518	c.1484G>A	c.(1483-1485)gGg>gAg	p.G495E		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	495	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.G495E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTGGTGGCCCCCCCACTCCC	0.622																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											54.0	46.0	49.0					12																	53215780		2203	4300	6503	51502047	SO:0001583	missense	0			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1484G>A	12.37:g.53215780C>T	ENSP00000328358:p.Gly495Glu	Somatic	803	7.37	64		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	51502047	272	46.25	234	Q6P465|Q7Z793	Missense_Mutation	SNP	superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF	p.G495E	ENST00000330553.5	37	c.1484	CCDS8839.1	12	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874994	0.51695	.	.	ENSG00000185640	ENST00000330553	D	0.87650	-2.28	4.21	3.31	0.37934	.	0.000000	0.47093	D	0.000253	D	0.83912	0.5357	N	0.19112	0.55	0.09310	N	0.999998	D	0.58268	0.982	P	0.58172	0.834	T	0.74529	-0.3635	10	0.36615	T	0.2	.	9.4586	0.38769	0.2115:0.7885:0.0:0.0	.	495	Q5XKE5	K2C79_HUMAN	E	495	ENSP00000328358:G495E	ENSP00000328358:G495E	G	-	2	0	KRT79	51502047	0.011000	0.17503	0.094000	0.20943	0.088000	0.18126	1.224000	0.32539	1.331000	0.45412	0.655000	0.94253	GGG	-	NULL		0.622	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT79	protein_coding	OTTHUMT00000406376.1	C	NM_175834		51502047	-1	no_errors	NM_175834.2	genbank	human	validated	54_36p	missense	SNP	0.055	T
RNASE9	390443	genome.wustl.edu	37	14	21025166	21025166	+	Silent	SNP	C	C	T	rs148263052	byFrequency	TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr14:21025166C>T	ENST00000557068.1	-	4	1788	c.63G>A	c.(61-63)ctG>ctA	p.L21L	RNASE9_ENST00000338904.3_Silent_p.L21L|RNASE9_ENST00000429244.2_Silent_p.L21L|RNASE9_ENST00000557209.1_Silent_p.L26L|RNASE9_ENST00000554964.1_Silent_p.L21L|RNASE9_ENST00000404716.3_Silent_p.L26L|RNASE9_ENST00000556208.1_Silent_p.L26L|RNASE9_ENST00000555230.1_Silent_p.L21L|RNASE9_ENST00000553541.1_Silent_p.L21L|RNASE9_ENST00000553706.1_Silent_p.L26L			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	21						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.L21L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GCACCAGCTGCAGCAGCTGCT	0.413																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	14						C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	38.0	41.0	40.0		63,63,63,78,78,78,78	-1.6	0.0	14	dbSNP_134	40	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RNASE9	NM_001001673.3,NM_001110356.1,NM_001110357.1,NM_001110358.1,NM_001110359.1,NM_001110360.1,NM_001110361.1	,,,,,,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,,,,,	21/206,21/206,21/206,26/211,26/211,26/211,26/211	21025166	5,13001	2203	4300	6503	20095006	SO:0001819	synonymous_variant	0			AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.63G>A	14.37:g.21025166C>T		Somatic	572	5.45	33		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	20095006	458	44.58	370	A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Silent	SNP	superfamily_RNase A-like	p.L21	ENST00000557068.1	37	c.63	CCDS32036.1	14																																																																																			-	NULL		0.413	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RNASE9	protein_coding	OTTHUMT00000411094.1	C	NM_001001673		20095006	-1	no_errors	NM_001001673.3	genbank	human	provisional	54_36p	silent	SNP	0.000	T
CTSG	1511	genome.wustl.edu	37	14	25043961	25043961	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr14:25043961G>T	ENST00000216336.2	-	3	295	c.259C>A	c.(259-261)Caa>Aaa	p.Q87K		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	87	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q87K(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTGATGTGTTGCTGGGTGTTT	0.532																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											203.0	165.0	178.0					14																	25043961		2203	4300	6503	24113801	SO:0001583	missense	0			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.259C>A	14.37:g.25043961G>T	ENSP00000216336:p.Gln87Lys	Somatic	1179	2.80	34		133	50.19	135	WXS	Illumina HiSeq	Phase_IV	24113801	913	45.98	778	Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.Q87K	ENST00000216336.2	37	c.259	CCDS9631.1	14	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703553	0.68501	.	.	ENSG00000100448	ENST00000216336	D	0.90069	-2.61	5.14	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.840520	0.09805	N	0.753568	D	0.92358	0.7575	L	0.60904	1.88	0.34373	D	0.692288	D	0.89917	1.0	D	0.97110	1.0	D	0.89367	0.3672	10	0.87932	D	0	.	7.5985	0.28063	0.0907:0.1667:0.7426:0.0	.	87	P08311	CATG_HUMAN	K	87	ENSP00000216336:Q87K	ENSP00000216336:Q87K	Q	-	1	0	CTSG	24113801	1.000000	0.71417	0.953000	0.39169	0.061000	0.15899	2.902000	0.48703	0.801000	0.34066	0.655000	0.94253	CAA	-	HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys		0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSG	protein_coding	OTTHUMT00000276536.2	G	NM_001911		24113801	-1	no_errors	NM_001911.2	genbank	human	reviewed	54_36p	missense	SNP	0.994	T
RNU6ATAC28P	106479555	genome.wustl.edu	37	14	84216800	84216800	+	RNA	SNP	G	G	A			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr14:84216800G>A	ENST00000459249.1	+	0	73									RNA, U6atac small nuclear 28, pseudogene																		catgcatacggtaaaggcatt	0.507																																						dbGAP											0			14																																								83286553			0					14q31.2	2013-04-03			ENSG00000238561	ENSG00000238561			46927	pseudogene	RNA, pseudogene							Standard			Approved						14.37:g.84216800G>A		Somatic	658	5.87	41		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	83286553	519	44.01	408		RNA	SNP	-	NULL	ENST00000459249.1	37	NULL		14																																																																																			-	-		0.507	RNU6ATAC28P-201	KNOWN	basic	snRNA	ENSG00000210408	snRNA		G			83286553	+1	pseudogene	ENST00000387673	ensembl	human	novel	54_36p	rna	SNP	0.971	A
FLRT2	23768	genome.wustl.edu	37	14	86089411	86089411	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr14:86089411A>T	ENST00000330753.4	+	2	2320	c.1553A>T	c.(1552-1554)tAt>tTt	p.Y518F	FLRT2_ENST00000554746.1_Missense_Mutation_p.Y518F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	518					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.Y518F(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATGCCTCCTATCTGAACAAC	0.587																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											111.0	106.0	108.0					14																	86089411		2203	4300	6503	85159164	SO:0001583	missense	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1553A>T	14.37:g.86089411A>T	ENSP00000332879:p.Tyr518Phe	Somatic	654	5.75	40		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	85159164	464	43.64	360	A0AV84|B7ZLP3	Missense_Mutation	SNP	HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,superfamily_SSF52058	p.Y518F	ENST00000330753.4	37	c.1553	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	A	3.227	-0.158335	0.06544	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.55052	0.54;0.54	6.17	4.97	0.65823	.	0.623444	0.17487	N	0.172486	T	0.34048	0.0884	L	0.29908	0.895	0.20307	N	0.999918	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	10	0.10902	T	0.67	-10.2701	6.3098	0.21159	0.6217:0.1201:0.0:0.2582	.	518	O43155	FLRT2_HUMAN	F	518;518;171	ENSP00000332879:Y518F;ENSP00000451050:Y518F	ENSP00000332879:Y518F	Y	+	2	0	FLRT2	85159164	0.010000	0.17322	0.993000	0.49108	0.727000	0.41649	1.372000	0.34261	2.371000	0.80710	0.533000	0.62120	TAT	-	NULL		0.587	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	protein_coding	OTTHUMT00000413193.1	A			85159164	+1	no_errors	NM_013231.4	genbank	human	reviewed	54_36p	missense	SNP	0.501	T
NAE1	8883	genome.wustl.edu	37	16	66857169	66857169	+	Missense_Mutation	SNP	C	C	T	rs373607253		TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr16:66857169C>T	ENST00000290810.3	-	6	459	c.362G>A	c.(361-363)tGt>tAt	p.C121Y	NAE1_ENST00000394074.2_Missense_Mutation_p.C32Y|NAE1_ENST00000379463.2_Missense_Mutation_p.C115Y|NAE1_ENST00000359087.4_Missense_Mutation_p.C124Y|NAE1_ENST00000564040.2_Intron			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	121					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)	p.C121Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	AGTAAACCTACAGAAAAATGA	0.274																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	16						C	TYR/CYS,TYR/CYS,TYR/CYS	0,4400		0,0,2200	45.0	52.0	50.0		344,95,362	4.8	1.0	16		50	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	NAE1	NM_001018159.1,NM_001018160.1,NM_003905.3	194,194,194	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	115/529,32/446,121/535	66857169	1,12995	2200	4298	6498	65414670	SO:0001583	missense	0			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.362G>A	16.37:g.66857169C>T	ENSP00000290810:p.Cys121Tyr	Somatic	158	5.95	10		29	39.58	19	WXS	Illumina HiSeq	Phase_IV	65414670	257	37.16	152	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	HMMPfam_ThiF,superfamily_Activating enzymes of the ubiquitin-like proteins	p.C121Y	ENST00000290810.3	37	c.362	CCDS10820.1	16	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426161	0.43020	0.0	1.16E-4	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.78	4.78	0.61160	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.398340	0.30771	N	0.008902	T	0.36358	0.0964	L	0.40543	1.245	0.42803	D	0.99393	B;B;B;B	0.26845	0.161;0.02;0.041;0.105	B;B;B;B	0.29862	0.024;0.024;0.108;0.108	T	0.31024	-0.9958	10	0.59425	D	0.04	-4.0677	12.1556	0.54074	0.0:0.9085:0.0:0.0915	.	32;124;121;115	A8MU28;A6NCK0;Q13564;A6NFN4	.;.;ULA1_HUMAN;.	Y	124;121;115;32	ENSP00000351990:C124Y;ENSP00000290810:C121Y;ENSP00000368776:C115Y;ENSP00000377637:C32Y	ENSP00000290810:C121Y	C	-	2	0	NAE1	65414670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.436000	0.52856	2.340000	0.79590	0.591000	0.81541	TGT	-	HMMPfam_ThiF,superfamily_Activating enzymes of the ubiquitin-like proteins		0.274	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NAE1	protein_coding	OTTHUMT00000268832.1	C	NM_003905		65414670	-1	no_errors	NM_003905.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	CCTG			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	-	-	-	CCTG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr5:170837547_170837548insCCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insCCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insCCTG	ENSP00000296930:p.Trp288fs	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	170770152	NA	NA	NA	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CCTG
FLT3	2322	genome.wustl.edu	37	13	28608263	28608264	+	In_Frame_Ins	INS	-	-	CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	-	-	-	CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr13:28608263_28608264insCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	ENST00000241453.7	-	14	1873_1874	c.1792_1793insCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATG	c.(1792-1794)gaa>gCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGaa	p.597_598insAGSSDNEYFYVDFREY	FLT3_ENST00000537084.1_In_Frame_Ins_p.597_598insAGSSDNEYFYVDFREY|FLT3_ENST00000380982.4_In_Frame_Ins_p.597_598insAGSSDNEYFYVDFREY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	597	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Y597_E598ins26(2)|p.597_598>DYVDFREY(1)|p.Y597_E598ins18(1)|p.E598>DMISPEDMK(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGATCATATTCATATTCTCTG	0.376			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	5	Insertion - In frame(3)|Complex - insertion inframe(2)	haematopoietic_and_lymphoid_tissue(5)	13																																								27506264	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1745_1792dupCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATG	13.37:g.28608263_28608264insCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	ENSP00000241453:p.Tyr597_Glu598insAlaGlySerSerAspAsnGluTyrPheTyrValAspPheArgGluTyr	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	27506263	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.598in_frame_insAGSSDNEYFYVDFREY	ENST00000241453.7	37	c.1793_1792	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506264	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.821:0.816	CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG
C16orf97	388276	genome.wustl.edu	37	16	52085773	52085773	+	Intron	DEL	C	C	-			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr16:52085773delC	ENST00000562818.1	-	2	176				C16orf97_ENST00000566628.1_5'UTR|C16orf97_ENST00000568524.1_Intron	NM_001242473.1	NP_001229402.1	H3BN30	CP097_HUMAN	chromosome 16 open reading frame 97																		GGCAACTGCTCAAAACCCCAC	0.443																																						dbGAP											0			16																																								50643274	SO:0001627	intron_variant	0				CCDS58461.1	16q12.1	2012-12-12			ENSG00000261190	ENSG00000261190			44658	protein-coding gene	gene with protein product							Standard	NM_001242473		Approved		uc021tih.1	H3BN30	OTTHUMG00000173232	ENST00000562818.1:c.158+6506G>-	16.37:g.52085773delC		Somatic	1325	3.54	49		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	50643274	955	36.81	618		RNA	DEL	-	NULL	ENST00000562818.1	37	NULL	CCDS58461.1	16																																																																																			-	-		0.443	C16orf97-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	LOC388276	protein_coding	OTTHUMT00000422560.3	C	NM_001242473		50643274	-1	no_errors	XR_041361.1	genbank	human	model	54_36p	rna	DEL	0.001	-
