#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
ELOVL5	60481	genome.wustl.edu	37	6	53138103	53138103	+	Missense_Mutation	SNP	A	A	C			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr6:53138103A>C	ENST00000542638.1	-	6	983	c.536T>G	c.(535-537)cTc>cGc	p.L179R	ELOVL5_ENST00000541407.1_Missense_Mutation_p.L206R|ELOVL5_ENST00000486973.1_5'Flank|ELOVL5_ENST00000370918.4_Missense_Mutation_p.L169R|ELOVL5_ENST00000304434.6_Missense_Mutation_p.L179R			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	179				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGAGTACATGAGGACGTGGAT	0.473																																							0											0													188.0	166.0	173.0					6																	53138103		2203	4300	6503	SO:0001583	missense	0			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.536T>G	6.37:g.53138103A>C	ENSP00000440728:p.Leu179Arg		B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.L206R	ENST00000542638.1	37	c.617	CCDS4951.1	6	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440993	0.83993	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.72	5.72	0.89469	.	.	.	.	.	T	0.55289	0.1911	H	0.94771	3.58	0.80722	D	1	D;D	0.62365	0.991;0.99	P;D	0.67725	0.847;0.953	T	0.70153	-0.4950	9	0.87932	D	0	-14.5076	16.0121	0.80409	1.0:0.0:0.0:0.0	.	206;179	F6SH78;Q9NYP7	.;ELOV5_HUMAN	R	169;179;179;206	ENSP00000359956:L169R;ENSP00000306640:L179R;ENSP00000440728:L179R;ENSP00000438095:L206R	ENSP00000306640:L179R	L	-	2	0	ELOVL5	53246062	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	9.281000	0.95811	2.195000	0.70347	0.454000	0.30748	CTC	0	pfam_GNS1_SUR4		0.473	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL5	protein_coding	OTTHUMT00000043566.1	86	251	0	0.00	0	0	A	NM_021814	0	0		53138103	-1	no_errors	ENST00000541407	ensembl	human	known	74_37	missense	75	304	13.79	15.75	12	57	SNP	1	C
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	304	117	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	355	171	8.27	9.04	32	17	SNP	1	A
OR2D2	120776	genome.wustl.edu	37	11	6913662	6913662	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr11:6913662C>T	ENST00000299459.2	-	1	168	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	24					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCAGCTGCTCGGTGTGTGGC	0.443																																							0											0													120.0	102.0	108.0					11																	6913662		2201	4296	6497	SO:0001583	missense	0			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.70G>A	11.37:g.6913662C>T	ENSP00000299459:p.Glu24Lys		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.E24K	ENST00000299459.2	37	c.70	CCDS31416.1	11	.	.	.	.	.	.	.	.	.	.	c	13.78	2.339288	0.41398	.	.	ENSG00000166368	ENST00000299459	T	0.00424	7.45	5.25	4.34	0.51931	.	0.000000	0.41823	D	0.000802	T	0.00300	0.0009	N	0.17901	0.54	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49969	-0.8882	10	0.87932	D	0	-10.9912	12.6585	0.56801	0.0:0.3193:0.6806:0.0	.	24	Q9H210	OR2D2_HUMAN	K	24	ENSP00000299459:E24K	ENSP00000299459:E24K	E	-	1	0	OR2D2	6870238	0.001000	0.12720	0.158000	0.22627	0.005000	0.04900	0.767000	0.26575	1.604000	0.50143	-0.134000	0.14843	GAG	0	NULL		0.443	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D2	protein_coding	OTTHUMT00000385986.1	32	199	0	0.00	0	0	C	NM_003700	0	0		6913662	-1	no_errors	ENST00000299459	ensembl	human	known	74_37	missense	35	291	18.6	6.13	8	19	SNP	0.06	T
DDX10	1662	genome.wustl.edu	37	11	108593732	108593732	+	Missense_Mutation	SNP	G	G	T			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr11:108593732G>T	ENST00000322536.3	+	13	1637	c.1508G>T	c.(1507-1509)gGt>gTt	p.G503V	DDX10_ENST00000526794.1_Missense_Mutation_p.G503V	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	503					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AGGTCTCTTGGTCTTGCTGTG	0.408			T	NUP98	AML*																																		0		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													37.0	37.0	37.0					11																	108593732		2201	4297	6498	SO:0001583	missense	0			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1508G>T	11.37:g.108593732G>T	ENSP00000314348:p.Gly503Val		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G503V	ENST00000322536.3	37	c.1508	CCDS8342.1	11	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704659	0.68615	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.61274	0.12;0.19	5.53	4.62	0.57501	.	0.046550	0.85682	D	0.000000	D	0.82549	0.5061	H	0.95950	3.745	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.989	D	0.87631	0.2516	10	0.87932	D	0	-18.1765	12.9746	0.58531	0.0749:0.0:0.9251:0.0	.	503;503	Q13206;E9PIF2	DDX10_HUMAN;.	V	503;409;503	ENSP00000314348:G503V;ENSP00000432032:G503V	ENSP00000314348:G503V	G	+	2	0	DDX10	108098942	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.453000	0.73488	1.486000	0.48398	-0.142000	0.14014	GGT	0	NULL		0.408	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX10	protein_coding	OTTHUMT00000390343.1	67	183	0	0.00	0	0	G	NM_004398	0	0		108593732	1	no_errors	ENST00000322536	ensembl	human	known	74_37	missense	57	225	14.93	11.07	10	28	SNP	1	T
HECTD1	25831	genome.wustl.edu	37	14	31582558	31582558	+	Missense_Mutation	SNP	C	C	G			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr14:31582558C>G	ENST00000399332.1	-	33	6477	c.5989G>C	c.(5989-5991)Gta>Cta	p.V1997L	HECTD1_ENST00000553700.1_Missense_Mutation_p.V1997L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1997					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACATCTTCTACTCCACAAGAG	0.398																																							0											0													167.0	162.0	164.0					14																	31582558		1864	4105	5969	SO:0001583	missense	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5989G>C	14.37:g.31582558C>G	ENSP00000382269:p.Val1997Leu		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.V1997L	ENST00000399332.1	37	c.5989	CCDS41939.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.61|14.61	2.587226|2.587226	0.46110|0.46110	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.08458	.|3.09;3.09;3.09	5.94|5.94	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.64402	.|U	.|0.000005	T|T	0.09379|0.09379	0.0231|0.0231	L|L	0.37466|0.37466	1.105|1.105	0.80722|0.80722	D|D	1|1	.|B;B	.|0.25312	.|0.123;0.123	.|B;B	.|0.21917	.|0.037;0.037	T|T	0.06716|0.06716	-1.0811|-1.0811	5|10	.|0.72032	.|D	.|0.01	-13.1643|-13.1643	15.1812|15.1812	0.72960|0.72960	0.0:0.9327:0.0:0.0673|0.0:0.9327:0.0:0.0673	.|.	.|1997;1997	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	D|L	362|1997;1999;1997;1424	.|ENSP00000450697:V1997L;ENSP00000382269:V1997L;ENSP00000451860:V1424L	.|ENSP00000261312:V1999L	E|V	-|-	3|1	2|0	HECTD1|HECTD1	30652309|30652309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.055000|0.055000	0.15305|0.15305	6.072000|6.072000	0.71238|0.71238	1.527000|1.527000	0.49086|0.49086	-0.145000|-0.145000	0.13849|0.13849	GAG|GTA	0	NULL		0.398	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	protein_coding	OTTHUMT00000409942.1	104	246	0.95	0.00	1	0	C		0	0		31582558	-1	no_errors	ENST00000399332	ensembl	human	known	74_37	missense	110	273	9.84	7.77	12	23	SNP	1	G
LRRC37BP1	147172	genome.wustl.edu	37	17	28961296	28961296	+	RNA	SNP	C	C	T			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr17:28961296C>T	ENST00000417404.1	+	0	1554									leucine rich repeat containing 37B pseudogene 1																		AAAGGATCCTCGCTTCCAGGA	0.373																																							0											0																																												0			BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961296C>T				RNA	SNP	0	NULL	ENST00000417404.1	37	NULL		17																																																																																			0	0		0.373	LRRC37BP1-003	KNOWN	basic	processed_transcript	ENSG00000214719	pseudogene	OTTHUMT00000256203.1	24	36	0	0.00	0	0	C	NR_015341	0	0		28961296	1	no_errors	ENST00000398849	ensembl	human	known	74_37	rna	40	53	9.09	5.36	4	3	SNP	0.001	T
RIN2	54453	genome.wustl.edu	37	20	19941396	19941396	+	Missense_Mutation	SNP	G	G	A	rs200460217		TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr20:19941396G>A	ENST00000255006.6	+	5	700	c.551G>A	c.(550-552)cGc>cAc	p.R184H	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.R135H	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	135	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CTCTCCCTCCGCCTGCCCTGT	0.458																																							0											0								G	HIS/ARG,HIS/ARG	0,3710		0,0,1855	48.0	45.0	46.0		551,404	5.7	1.0	20		46	1,8213		0,1,4106	yes	missense,missense	RIN2	NM_001242581.1,NM_018993.3	29,29	0,1,5961	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	184/945,135/896	19941396	1,11923	1855	4107	5962	SO:0001583	missense	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.551G>A	20.37:g.19941396G>A	ENSP00000255006:p.Arg184His		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.R184H	ENST00000255006.6	37	c.551	CCDS56182.1	20	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348600	0.82132	0.0	1.22E-4	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.06142	3.34;3.34	5.66	5.66	0.87406	SH2 motif (3);	0.049099	0.85682	D	0.000000	T	0.24586	0.0596	L	0.61036	1.89	0.38453	D	0.947009	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.00152	-1.1983	9	.	.	.	-31.9289	19.6911	0.96000	0.0:0.0:1.0:0.0	.	135;135	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	H	184;135	ENSP00000255006:R184H;ENSP00000391239:R135H	.	R	+	2	0	RIN2	19889396	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.514000	0.90545	2.813000	0.96785	0.655000	0.94253	CGC	0	pfscan_SH2		0.458	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	protein_coding	OTTHUMT00000078212.1	86	253	0	0.39	0	1	G		rs200460217	G->A		19941396	1	no_errors	ENST00000255006	ensembl	human	known	74_37	missense	62	314	8.82	4.53	6	15	SNP	1	A
DNAH14	127602	genome.wustl.edu	37	1	225157363	225157363	+	Intron	SNP	C	C	T			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr1:225157363C>T	ENST00000445597.2	+	7	1032				DNAH14_ENST00000430092.1_Intron|DNAH14_ENST00000439375.2_Intron|DNAH14_ENST00000400952.3_Intron|DNAH14_ENST00000366849.1_Intron			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						acggagggaccggccgaagcc	0.433																																							0											0																																										SO:0001627	intron_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.1032+2078C>T	1.37:g.225157363C>T			A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	RNA	SNP	0	NULL	ENST00000445597.2	37	NULL		1																																																																																			0	0		0.433	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	protein_coding	OTTHUMT00000331217.3	25	0	0	0.00	0	0	C	XM_059166	0	0		225157363	1	no_errors	ENST00000453375	ensembl	human	known	74_37	rna	33	2	10.81	0.00	4	0	SNP	0.035	T
DNM1P47	100216544	genome.wustl.edu	37	15	102295660	102295660	+	RNA	SNP	C	C	T	rs202005284	byFrequency	TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr15:102295660C>T	ENST00000561463.1	+	0	3706									DNM1 pseudogene 47																		GTGGAGGCGTCGGCAGAGCAG	0.612																																							0											0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102295660C>T				RNA	SNP	0	NULL	ENST00000561463.1	37	NULL		15																																																																																			0	0		0.612	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	22	8	0	0.00	0	0	C	NG_009149	rs202005284	C->T		102295660	1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	14	2	30	0.00	6	0	SNP	0.993	T
MAST4	375449	genome.wustl.edu	37	5	65892669	65892671	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr5:65892669_65892671delGCC	ENST00000403625.2	+	1	481_483	c.186_188delGCC	c.(184-189)cagccg>cag	p.P68del	MAST4_ENST00000406039.1_In_Frame_Del_p.P68del|MAST4_ENST00000406374.1_In_Frame_Del_p.P68del|MAST4_ENST00000404260.3_In_Frame_Del_p.P68del	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	68						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GAGAGCATCAGCCGCCGCCGCCG	0.749																																							0											0																																										SO:0001651	inframe_deletion	0			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.186_188delGCC	5.37:g.65892678_65892680delGCC	ENSP00000385727:p.Pro68del		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	In_Frame_Del	DEL	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.P66in_frame_del	ENST00000403625.2	37	c.186_188	CCDS54861.1	5																																																																																			0	NULL		0.749	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	protein_coding	OTTHUMT00000326324.2	14	12	0	0.00	0	0	GCC		0	0		65892671	1	no_errors	ENST00000404260	ensembl	human	known	74_37	in_frame_del	12	9	14.29	0.00	2	0	DEL	0.182:0.176:0.146	0
RIMS2	9699	genome.wustl.edu	37	8	104863873	104863876	+	Intron	DEL	ACAC	ACAC	-	rs56306101|rs10529078|rs369439768|rs59712615	byFrequency	TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	ACAC	ACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr8:104863873_104863876delACAC	ENST00000507740.1	+	1	358				RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000522174.1_Intron|RIMS2_ENST00000406091.3_Intron|AP001572.1_ENST00000401294.1_RNA	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AATGCTATGTacacacacacacac	0.363										HNSCC(12;0.0054)																													0											0																																										SO:0001627	intron_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.122+32016ACAC>-	8.37:g.104863881_104863884delACAC			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	RNA	DEL	0	NULL	ENST00000507740.1	37	NULL	CCDS43761.1	8																																																																																			0	0		0.363	RIMS2-005	NOVEL	basic|CCDS	protein_coding	ENSG00000216113	protein_coding	OTTHUMT00000367215.1	12	0	0	0.00	0	0	ACAC	NM_001100117	rs59712615	TACAC->T		104863876	1	no_errors	ENST00000401294	ensembl	human	novel	74_37	rna	21	0	22.22	0.00	6	0	DEL	0.000:0.000:0.000:0.000	0
