#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
KCNN2	3781	genome.wustl.edu	37	5	113698628	113698628	+	Silent	SNP	C	C	T			TCGA-3G-AB0O-01A-22D-A423-09	TCGA-3G-AB0O-11A-31D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3b2eeb9-85d3-4041-bc3e-570d8b3fa2f2	e078ce0f-d012-456b-8c5e-378ea096f725	g.chr5:113698628C>T	ENST00000512097.3	+	2	1174	c.156C>T	c.(154-156)gcC>gcT	p.A52A	KCNN2_ENST00000264773.3_Silent_p.A52A			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	52	Poly-Ala.			A -> D (in Ref. 1; AAG16728). {ECO:0000305}.	potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CGTCTGCAGCCGCTGCCGCCG	0.697																																							0											0													7.0	8.0	7.0					5																	113698628		2082	4094	6176	SO:0001819	synonymous_variant	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.156C>T	5.37:g.113698628C>T			A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.A52	ENST00000512097.3	37	c.156	CCDS4114.1	5																																																																																			0	NULL		0.697	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	protein_coding	OTTHUMT00000250775.2	26	29	0	0.00	0	0	C	NM_021614	0	0		113698628	1	no_errors	ENST00000264773	ensembl	human	known	74_37	silent	12	6	25	0.00	4	0	SNP	0.001	T
DSCR3	10311	genome.wustl.edu	37	21	38593436	38593436	+	IGR	SNP	C	C	T			TCGA-3G-AB0O-01A-22D-A423-09	TCGA-3G-AB0O-11A-31D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3b2eeb9-85d3-4041-bc3e-570d8b3fa2f2	e078ce0f-d012-456b-8c5e-378ea096f725	g.chr21:38593436C>T	ENST00000309117.6	-	0	3256				DSCR3_ENST00000399000.3_5'Flank|DSCR9_ENST00000454482.2_lincRNA|AP001432.14_ENST00000440629.1_lincRNA	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3							nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ACGCAGGCTCCGCGCGAGGCC	0.726											OREG0026204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													5.0	7.0	6.0					21																	38593436		2108	4154	6262	SO:0001628	intergenic_variant	0			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659		21.37:g.38593436C>T		879	B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	RNA	SNP	0	NULL	ENST00000309117.6	37	NULL	CCDS33553.1	21																																																																																			0	0		0.726	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR9	protein_coding	OTTHUMT00000194807.1	48	26	0	0.00	0	0	C		0	0		38593436	1	no_errors	ENST00000454482	ensembl	human	known	74_37	rna	34	10	10.53	0.00	4	0	SNP	0.005	T
TMEM63B	55362	genome.wustl.edu	37	6	44119717	44119718	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-3G-AB0O-01A-22D-A423-09	TCGA-3G-AB0O-11A-31D-A426-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3b2eeb9-85d3-4041-bc3e-570d8b3fa2f2	e078ce0f-d012-456b-8c5e-378ea096f725	g.chr6:44119717_44119718delCG	ENST00000259746.9	+	19	1991_1992	c.1808_1809delCG	c.(1807-1809)tcgfs	p.S603fs	TMEM63B_ENST00000323267.6_Frame_Shift_Del_p.S603fs			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	603					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGGCGCGCTCGGCCGCCGAGA	0.668											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0																																										SO:0001589	frameshift_variant	0			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1808_1809delCG	6.37:g.44119717_44119718delCG	ENSP00000259746:p.Ser603fs	921	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Frame_Shift_Del	DEL	pfam_DUF221	p.S603fs	ENST00000259746.9	37	c.1808_1809	CCDS34461.1	6																																																																																			0	pfam_DUF221		0.668	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	protein_coding	OTTHUMT00000040712.2	21	21	0	0.00	0	0	CG	XM_166410	0	0		44119718	1	no_errors	ENST00000259746	ensembl	human	known	74_37	frame_shift_del	3	10	40	0.00	2	0	DEL	1.000:0.107	0
NPIPB5	100132247	genome.wustl.edu	37	16	22545618	22545629	+	In_Frame_Del	DEL	TCCACCCTCAGC	TCCACCCTCAGC	-	rs375731759		TCGA-3G-AB0O-01A-22D-A423-09	TCGA-3G-AB0O-11A-31D-A426-09	TCCACCCTCAGC	TCCACCCTCAGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3b2eeb9-85d3-4041-bc3e-570d8b3fa2f2	e078ce0f-d012-456b-8c5e-378ea096f725	g.chr16:22545618_22545629delTCCACCCTCAGC	ENST00000517539.1	+	8	1389_1400	c.1314_1325delTCCACCCTCAGC	c.(1312-1326)cttccaccctcagct>ctt	p.PPSA443del	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_In_Frame_Del_p.PPSA443del			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	443	Pro-rich.					integral component of membrane (GO:0016021)											TCACTCCCCTTCCACCCTCAGCTCCACCCTCA	0.571																																							0											0										8,96		4,0,48							0.0			1	12,252		6,0,126	no	coding	LOC100132247	NM_001135865.1		10,0,174	A1A1,A1R,RR		4.5455,7.6923,5.4348				20,348				SO:0001651	inframe_deletion	0				CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1314_1325delTCCACCCTCAGC	16.37:g.22545618_22545629delTCCACCCTCAGC	ENSP00000430633:p.Pro443_Ala446del		B4DK13	In_Frame_Del	DEL	NULL	p.APPS442in_frame_del	ENST00000517539.1	37	c.1314_1325	CCDS45443.1	16																																																																																			0	NULL		0.571	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NPIPB5	protein_coding	OTTHUMT00000374343.2	13	0	0	0.00	0	0	TCCACCCTCAGC	NM_001135865	rs375731759	TTCCACCCTCAGC->T		22545629	1	no_errors	ENST00000424340	ensembl	human	known	74_37	in_frame_del	16	0	38.46	0.00	10	0	DEL	0.997:0.996:0.997:0.997:0.997:0.998:0.998:0.998:0.998:0.997:0.995:0.995	0
MBD2	8932	genome.wustl.edu	37	18	51750584	51750585	+	In_Frame_Ins	INS	-	-	GCC			TCGA-3G-AB0O-01A-22D-A423-09	TCGA-3G-AB0O-11A-31D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3b2eeb9-85d3-4041-bc3e-570d8b3fa2f2	e078ce0f-d012-456b-8c5e-378ea096f725	g.chr18:51750584_51750585insGCC	ENST00000256429.3	-	1	573_574	c.345_346insGGC	c.(343-348)ggcagc>ggcGGCagc	p.115_116insG	MBD2_ENST00000583046.1_In_Frame_Ins_p.115_116insG|SNORA37_ENST00000384504.1_RNA|MBD2_ENST00000398398.2_In_Frame_Ins_p.115_116insG	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	115	Gly-rich.|Necessary for interaction with DHX9.				ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		ccgccaccgctgccgccgccgc	0.861																																							0											0																																										SO:0001652	inframe_insertion	0			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.343_345dupGGC	18.37:g.51750591_51750593dupGCC	ENSP00000256429:p.Gly119_Gly120dup		O95242|Q9UIS8	In_Frame_Ins	INS	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.115in_frame_insG	ENST00000256429.3	37	c.346_345	CCDS11953.1	18																																																																																			0	NULL		0.861	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD2	protein_coding	OTTHUMT00000256003.2	8	0	0	0.00	0	0	0	NM_003927	0	0		51750585	-1	no_errors	ENST00000256429	ensembl	human	known	74_37	in_frame_ins	3	0	50	0.00	3	0	INS	0.957:0.926	GCC
RASL10A	10633	genome.wustl.edu	37	22	29709353	29709354	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-3G-AB0O-01A-22D-A423-09	TCGA-3G-AB0O-11A-31D-A426-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3b2eeb9-85d3-4041-bc3e-570d8b3fa2f2	e078ce0f-d012-456b-8c5e-378ea096f725	g.chr22:29709353_29709354delGC	ENST00000216101.6	-	3	1057_1058	c.548_549delGC	c.(547-549)cgcfs	p.R183fs	RASL10A_ENST00000608559.1_5'Flank|RASL10A_ENST00000401450.3_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	183	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						GGTGTGCAGGGCGCGCGCGCAC	0.708																																							0											0																																										SO:0001589	frameshift_variant	0			Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106	ENST00000216101.6:c.548_549delGC	22.37:g.29709361_29709362delGC	ENSP00000216101:p.Arg183fs		Q49AU5|Q6PI03	Frame_Shift_Del	DEL	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase	p.R183fs	ENST00000216101.6	37	c.549_548	CCDS13854.1	22																																																																																			0	NULL		0.708	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL10A	protein_coding	OTTHUMT00000321342.1	22	5	0	0.00	0	0	GC		0	0		29709354	-1	no_errors	ENST00000216101	ensembl	human	known	74_37	frame_shift_del	19	9	9.52	0.00	2	0	DEL	0.996:0.997	0
