#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
CYLC1	1538	genome.wustl.edu	37	X	83128705	83128705	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chrX:83128705C>A	ENST00000329312.4	+	4	1026	c.989C>A	c.(988-990)aCa>aAa	p.T330K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	330					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T329K(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAGAAGGACACAGAGTCTACT	0.338																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											47.0	42.0	44.0					X																	83128705		2197	4294	6491	83015361	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.989C>A	X.37:g.83128705C>A	ENSP00000331556:p.Thr330Lys	809	0.25	2		NA	NA	NA	83015361	96	88.43	734	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.T330K	ENST00000329312.4	37	c.989	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	c	9.401	1.077937	0.20227	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.29655	1.56	3.98	2.15	0.27550	.	.	.	.	.	T	0.33876	0.0878	L	0.52573	1.65	0.09310	N	1	D;D	0.54047	0.964;0.964	P;P	0.54210	0.745;0.745	T	0.11842	-1.0571	9	0.29301	T	0.29	-0.1241	3.8955	0.09138	0.2364:0.6355:0.0:0.1281	.	330;330	P35663;F5H4V5	CYLC1_HUMAN;.	K	330	ENSP00000331556:T330K	ENSP00000331556:T330K	T	+	2	0	CYLC1	83015361	0.006000	0.16342	0.002000	0.10522	0.953000	0.61014	0.093000	0.15086	0.437000	0.26423	0.436000	0.28706	ACA	-	NULL		0.338	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	protein_coding	OTTHUMT00000057371.1	C	NM_021118		83015361	+1	no_errors	NM_021118.1	genbank	human	provisional	54_36p	missense	SNP	0.027	A
CADM2	253559	genome.wustl.edu	37	3	86114809	86114809	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr3:86114809T>G	ENST00000407528.2	+	9	1180	c.1118T>G	c.(1117-1119)aTa>aGa	p.I373R	CADM2_ENST00000405615.2_Missense_Mutation_p.I375R|CADM2_ENST00000383699.3_Missense_Mutation_p.I342R	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	373					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I375R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATAGGAGGAATAGTGGCTGTA	0.403																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											162.0	143.0	149.0					3																	86114809		2203	4300	6503	86197499	SO:0001583	missense	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1118T>G	3.37:g.86114809T>G	ENSP00000384575:p.Ile373Arg	953	0.31	3		NA	NA	NA	86197499	500	42.95	378	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	HMMSmart_4.1m,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_SSF48726	p.I375R	ENST00000407528.2	37	c.1124	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547829	0.86022	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.66815	0.84;-0.23;-0.22	5.76	5.76	0.90799	.	0.095394	0.64402	D	0.000001	T	0.72070	0.3415	L	0.29908	0.895	0.80722	D	1	D;P;P	0.56746	0.977;0.925;0.877	D;P;P	0.64042	0.921;0.667;0.467	T	0.74067	-0.3784	10	0.52906	T	0.07	.	16.0708	0.80928	0.0:0.0:0.0:1.0	.	375;342;373	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	R	342;373;375	ENSP00000373200:I342R;ENSP00000384575:I373R;ENSP00000384193:I375R	ENSP00000373200:I342R	I	+	2	0	CADM2	86197499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.197000	0.70478	0.528000	0.53228	ATA	-	NULL		0.403	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	protein_coding	OTTHUMT00000352822.1	T	NM_153184		86197499	+1	no_errors	NM_153184.2	genbank	human	validated	54_36p	missense	SNP	1.000	G
FRYL	285527	genome.wustl.edu	37	4	48577210	48577210	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr4:48577210T>C	ENST00000503238.1	-	22	2769	c.2770A>G	c.(2770-2772)Atg>Gtg	p.M924V	FRYL_ENST00000358350.4_Missense_Mutation_p.M924V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.M924V|FRYL_ENST00000537810.1_Missense_Mutation_p.M924V|RNU5E-3P_ENST00000515913.1_RNA			O94915	FRYL_HUMAN	FRY-like	924					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.M924V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GAACGCATCATTGGAACTATG	0.398																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											115.0	108.0	110.0					4																	48577210		1885	4108	5993	48271967	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2770A>G	4.37:g.48577210T>C	ENSP00000426064:p.Met924Val	390	0.00	0		18	37.93	11	48271967	582	34.61	308	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM repeat	p.M924V	ENST00000503238.1	37	c.2770	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030694	0.54790	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.71	4.53	0.55603	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.34454	0.0898	L	0.43152	1.355	0.80722	D	1	B;B	0.29612	0.0;0.251	B;B	0.24541	0.001;0.054	T	0.13926	-1.0491	10	0.59425	D	0.04	.	11.6373	0.51211	0.0:0.0691:0.0:0.9309	.	924;924	F2Z2S2;O94915	.;FRYL_HUMAN	V	924	ENSP00000426064:M924V;ENSP00000351113:M924V;ENSP00000441114:M924V;ENSP00000421584:M924V	ENSP00000351113:M924V	M	-	1	0	FRYL	48271967	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.829000	0.62737	0.992000	0.38840	-0.263000	0.10527	ATG	-	superfamily_ARM repeat		0.398	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	protein_coding	OTTHUMT00000369265.2	T			48271967	-1	no_errors	NM_015030.1	genbank	human	validated	54_36p	missense	SNP	1.000	C
GANC	2595	genome.wustl.edu	37	15	42641596	42641596	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr15:42641596G>A	ENST00000318010.8	+	22	2674	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	812					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.E812K(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TTCAGTGGGTGAGTTATATCT	0.398																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	15											179.0	166.0	170.0					15																	42641596		2203	4299	6502	40428888	SO:0001583	missense	0			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2434G>A	15.37:g.42641596G>A	ENSP00000326227:p.Glu812Lys	1453	0.00	0		18	18.18	4	40428888	962	41.80	691	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,superfamily_(Trans)glycosidases	p.E812K	ENST00000318010.8	37	c.2434	CCDS10084.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.124756	0.94429	.	.	ENSG00000214013	ENST00000318010	D	0.87334	-2.24	5.37	5.37	0.77165	.	0.105700	0.64402	D	0.000006	D	0.89536	0.6743	M	0.80183	2.485	0.80722	D	1	B	0.24920	0.114	B	0.30716	0.119	D	0.87928	0.2708	10	0.72032	D	0.01	-7.446	19.1088	0.93309	0.0:0.0:1.0:0.0	.	812	Q8TET4	GANC_HUMAN	K	812	ENSP00000326227:E812K	ENSP00000447925:E44K	E	+	1	0	GANC	40428888	1.000000	0.71417	0.983000	0.44433	0.917000	0.54804	7.044000	0.76578	2.527000	0.85204	0.462000	0.41574	GAG	-	NULL		0.398	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	protein_coding	OTTHUMT00000252887.2	G	NM_198141		40428888	+1	no_errors	NM_198141.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DHX34	9704	genome.wustl.edu	37	19	47876160	47876160	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr19:47876160G>A	ENST00000328771.4	+	8	2291	c.1942G>A	c.(1942-1944)Gtc>Atc	p.V648I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	648					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.V648I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCTCTTCAACGTCTTCAACGC	0.682																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											31.0	29.0	30.0					19																	47876160		2203	4299	6502	52567974	SO:0001583	missense	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1942G>A	19.37:g.47876160G>A	ENSP00000331907:p.Val648Ile	203	0.00	0		8	11.11	1	52567974	87	43.51	67	B4DMY8	Missense_Mutation	SNP	HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HA2,HMMPfam_DUF1605,HMMSmart_SM00487,PatternScan_RUBREDOXIN,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V648I	ENST00000328771.4	37	c.1942	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988340	0.18966	.	.	ENSG00000134815	ENST00000328771	T	0.02763	4.17	5.45	0.362	0.16113	.	0.780540	0.11387	N	0.569247	T	0.01189	0.0039	N	0.01352	-0.895	0.23425	N	0.997703	B	0.06786	0.001	B	0.06405	0.002	T	0.48927	-0.8991	10	0.27785	T	0.31	-28.9447	8.6445	0.33996	0.4474:0.0:0.5526:0.0	.	648	Q14147	DHX34_HUMAN	I	648	ENSP00000331907:V648I	ENSP00000331907:V648I	V	+	1	0	DHX34	52567974	0.069000	0.21087	0.391000	0.26233	0.789000	0.44602	0.501000	0.22578	-0.079000	0.12707	0.655000	0.94253	GTC	-	NULL		0.682	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	protein_coding	OTTHUMT00000314313.3	G	NM_014681		52567974	+1	no_errors	NM_014681.4	genbank	human	reviewed	54_36p	missense	SNP	0.984	A
TOP3B	8940	genome.wustl.edu	37	22	22324724	22324724	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr22:22324724C>T	ENST00000398793.2	-	6	873	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	TOP3B_ENST00000357179.5_Missense_Mutation_p.V147M|TOP3B_ENST00000413067.2_Intron	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	147	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.V147M(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GCCCGGAACACGGTCTTCTCG	0.607																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	22											96.0	79.0	85.0					22																	22324724		2203	4300	6503	20654724	SO:0001583	missense	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.439G>A	22.37:g.22324724C>T	ENSP00000381773:p.Val147Met	596	0.00	0		15	50.00	15	20654724	265	41.37	187	A0M8Q3|Q9BUP5	Missense_Mutation	SNP	PatternScan_TOPOISOMERASE_I_PROK,superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00436,HMMSmart_SM00437,HMMSmart_SM00493,HMMPfam_Toprim,HMMPfam_Topoisom_bac	p.V147M	ENST00000398793.2	37	c.439	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785430	0.70337	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.25912	1.77;1.77;1.77	4.97	4.97	0.65823	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, domain 2 (1);Toprim domain (1);	0.061993	0.64402	D	0.000005	T	0.51329	0.1668	M	0.87328	2.875	0.80722	D	1	D	0.69078	0.997	P	0.61328	0.887	T	0.58736	-0.7584	10	0.87932	D	0	-0.0362	12.2415	0.54544	0.0:0.9115:0.0:0.0885	.	147	O95985	TOP3B_HUMAN	M	147	ENSP00000349705:V147M;ENSP00000381773:V147M;ENSP00000390977:V147M	ENSP00000349705:V147M	V	-	1	0	TOP3B	20654724	0.983000	0.35010	0.949000	0.38748	0.296000	0.27459	2.608000	0.46308	2.594000	0.87642	0.561000	0.74099	GTG	-	superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00436,HMMPfam_Toprim		0.607	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	protein_coding	OTTHUMT00000320251.1	C	NM_003935		20654724	-1	no_errors	NM_003935.3	genbank	human	reviewed	54_36p	missense	SNP	0.984	T
EWSR1	2130	genome.wustl.edu	37	22	29688596	29688596	+	Splice_Site	SNP	G	G	T			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr22:29688596G>T	ENST00000397938.2	+	11	1483		c.e11+1		EWSR1_ENST00000332035.6_Splice_Site|EWSR1_ENST00000414183.2_Splice_Site|EWSR1_ENST00000332050.6_Splice_Site|EWSR1_ENST00000331029.7_Splice_Site|EWSR1_ENST00000406548.1_Splice_Site	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.?(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTTGTTAAGGTCAGTAAAAG	0.383			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	dbGAP		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	22											141.0	125.0	130.0					22																	29688596		2203	4300	6503	28018596	SO:0001630	splice_region_variant	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1164+1G>T	22.37:g.29688596G>T		1118	0.00	0		13	26.47	9	28018596	753	18.95	176	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Splice_Site	SNP	-	e11+1	ENST00000397938.2	37	c.1164+1	CCDS13851.1	22	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533780	0.85812	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035;ENST00000360091	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5601	0.95368	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EWSR1	28018596	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.431000	0.97494	2.620000	0.88729	0.650000	0.86243	.	-	-		0.383	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	protein_coding	OTTHUMT00000321345.1	G	NM_005243	Intron	28018596	+1	no_errors	NM_005243.2	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
ETV6	2120	genome.wustl.edu	37	12	11992221	11992233	+	Frame_Shift_Del	DEL	ATCGATCTCCTCA	ATCGATCTCCTCA	-			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	ATCGATCTCCTCA	ATCGATCTCCTCA	ATCGATCTCCTCA	-	ATCGATCTCCTCA	ATCGATCTCCTCA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr12:11992221_11992233delATCGATCTCCTCA	ENST00000396373.4	+	3	585_597	c.311_323delATCGATCTCCTCA	c.(310-324)tatcgatctcctcatfs	p.YRSPH104fs		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	104	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R105P(2)|p.R105G(1)|p.Y104fs*14(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GACTTTCGCTATCGATCTCCTCATTCAGGTGAG	0.465			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	dbGAP		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"""L, E, M"""	4	Substitution - Missense(3)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(4)	12																																								11883500	SO:0001589	frameshift_variant	0			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.311_323delATCGATCTCCTCA	12.37:g.11992221_11992233delATCGATCTCCTCA	ENSP00000379658:p.Tyr104fs	NA	NA	NA		NA	NA	NA	11883488	NA	NA	NA	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Frame_Shift_Del	DEL	"HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain,superfamily_""Winged helix"" DNA-binding domain"	p.Y104fs	ENST00000396373.4	37	c.311_323	CCDS8643.1	12																																																																																			-	HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain		0.465	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	protein_coding	OTTHUMT00000400130.2	ATCGATCTCCTCA	NM_001987		11883500	+1	no_errors	NM_001987.4	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.995:0.881:0.929:0.995:0.992:1.000:1.000:1.000:1.000:1.000:0.984:1.000:1.000	-
SRRM2	23524	genome.wustl.edu	37	16	2812699	2812700	+	Frame_Shift_Ins	INS	-	-	TC	rs572376986		TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	-	-	-	TC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr16:2812699_2812700insTC	ENST00000301740.8	+	11	2719_2720	c.2170_2171insTC	c.(2170-2172)tctfs	p.S724fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	724	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.S724fs*27(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAGAGGCAGATCTGGCTCATCT	0.46																																						dbGAP											1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	16																																								2752701	SO:0001589	frameshift_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	Exception_encountered	16.37:g.2812699_2812700insTC	ENSP00000301740:p.Ser724fs	1993	0.00	0		430	34.55	227	2752700	1128	35.98	634	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	HMMPfam_cwf21	p.S724fs	ENST00000301740.8	37	c.2170_2171	CCDS32373.1	16																																																																																			-	NULL		0.460	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	-			2752701	+1	no_errors	NM_016333.3	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TC
