#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FKBP5	2289	broad.mit.edu	37	6	35558975	35558975	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr6:35558975T>C	ENST00000539068.1	-	7	890	c.688A>G	c.(688-690)Aag>Gag	p.K230E	FKBP5_ENST00000540787.1_Missense_Mutation_p.K51E|FKBP5_ENST00000357266.4_Missense_Mutation_p.K230E|FKBP5_ENST00000542713.1_Intron|FKBP5_ENST00000536438.1_Missense_Mutation_p.K230E	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	230	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATTTAGGCTTCCCTGCCTCT	0.358																																						ENST00000536438.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(688-690)Aag>Gag		FK506 binding protein 5							102.0	103.0	103.0					6																	35558975		2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35558975T>C	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.688A>G	6.37:g.35558975T>C	ENSP00000441205:p.Lys230Glu					FKBP5_ENST00000539068.1_Missense_Mutation_p.K230E|FKBP5_ENST00000357266.4_Missense_Mutation_p.K230E|FKBP5_ENST00000540787.1_Missense_Mutation_p.K51E|FKBP5_ENST00000542713.1_Intron	p.K230E	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN			8	1003	-			230			PPIase FKBP-type 2.		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.688A>G	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918785	0.92249	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.68	5.68	0.88126	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	L	0.52823	1.66	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	D	0.88674	0.3197	10	0.56958	D	0.05	-10.5348	14.7931	0.69857	0.0:0.0:0.0:1.0	.	230	Q13451	FKBP5_HUMAN	E	230;230;230;230;51;193	ENSP00000444810:K230E;ENSP00000349811:K230E;ENSP00000441205:K230E;ENSP00000445412:K51E	ENSP00000338160:K230E	K	-	1	0	FKBP5	35666953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.860000	0.75473	2.289000	0.77006	0.460000	0.39030	AAG		0.358	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			8	89	0	0	0	0.002780	0	8	89				
LGALS13	29124	broad.mit.edu	37	19	40095966	40095966	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:40095966G>A	ENST00000221797.4	+	3	286	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	81	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			AACAGACTACGTGCCCTTTGA	0.493																																						ENST00000221797.4																			0				lung(5)|ovary(1)|urinary_tract(1)	7						c.(241-243)Gtg>Atg		lectin, galactoside-binding, soluble, 13							220.0	164.0	183.0					19																	40095966		2203	4300	6503	SO:0001583	missense	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095966G>A	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.241G>A	19.37:g.40095966G>A	ENSP00000221797:p.Val81Met						p.V81M	NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		3	286	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		81			Galectin.		C5HZ15	Missense_Mutation	SNP	ENST00000221797.4	37	c.241G>A	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.695544	0.00098	.	.	ENSG00000105198	ENST00000221797	T	0.05447	3.44	0.744	-0.815	0.10843	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.01800	0.0057	N	0.02674	-0.535	0.09310	N	1	B	0.23058	0.079	B	0.18871	0.023	T	0.44559	-0.9320	8	0.02654	T	1	.	.	.	.	.	81	Q9UHV8	PP13_HUMAN	M	81	ENSP00000221797:V81M	ENSP00000221797:V81M	V	+	1	0	LGALS13	44787806	0.033000	0.19621	0.003000	0.11579	0.043000	0.13939	-0.033000	0.12246	-0.333000	0.08476	0.305000	0.20034	GTG		0.493	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		31	47	0	0	0	0.010818	0	31	47				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		7	265	0	0	0	0.001984	0	7	265				
ERAL1	26284	broad.mit.edu	37	17	27182067	27182067	+	Silent	SNP	C	C	T			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr17:27182067C>T	ENST00000254928.5	+	1	112	c.15C>T	c.(13-15)agC>agT	p.S5S	FAM222B_ENST00000583953.1_5'Flank|ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	5					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTGCCCCCAGCTGGCGCGGGG	0.612																																						ENST00000254928.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(13-15)agC>agT		Era-like 12S mitochondrial rRNA chaperone 1							29.0	30.0	30.0					17																	27182067		2199	4294	6493	SO:0001819	synonymous_variant	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27182067C>T	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.15C>T	17.37:g.27182067C>T						ERAL1_ENST00000578001.1_3'UTR	p.S5S	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		1	112	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		5					B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Silent	SNP	ENST00000254928.5	37	c.15C>T	CCDS11244.1																																																																																				0.612	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			5	26	0	0	0	0.001168	0	5	26				
MT-CO1	4512	broad.mit.edu	37	M	3290	3290	+	5'Flank	SNP	T	T	C			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chrM:3290T>C	ENST00000361624.2	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						cagaggttcaattcctcttct	0.418																																						ENST00000386347.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:3290T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3290T>C	Exception_encountered													0	61	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.418	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		186	464	0	0	0	0.014410	0	186	464				
AOC1	26	broad.mit.edu	37	7	150554081	150554081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr7:150554081C>T	ENST00000493429.1	+	4	1107	c.523C>T	c.(523-525)Caa>Taa	p.Q175*	AOC1_ENST00000416793.2_Nonsense_Mutation_p.Q175*|AOC1_ENST00000360937.4_Nonsense_Mutation_p.Q175*|AOC1_ENST00000467291.1_Nonsense_Mutation_p.Q175*			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	175					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTTCTCATTCCAAGACTGCCA	0.582																																						ENST00000493429.1																			0											c.(523-525)Caa>Taa		amine oxidase, copper containing 1							76.0	77.0	76.0					7																	150554081		2010	4176	6186	SO:0001587	stop_gained	26							g.chr7:150554081C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.523C>T	7.37:g.150554081C>T	ENSP00000418614:p.Gln175*					AOC1_ENST00000416793.2_Nonsense_Mutation_p.Q175*|AOC1_ENST00000360937.4_Nonsense_Mutation_p.Q175*|AOC1_ENST00000467291.1_Nonsense_Mutation_p.Q175*	p.Q175*							4	1107	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Nonsense_Mutation	SNP	ENST00000493429.1	37	c.523C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008422	0.75046	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	.	.	.	5.45	2.57	0.30868	.	1.165620	0.06129	N	0.670192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-21.7051	3.5456	0.07827	0.2992:0.4614:0.1577:0.0817	.	.	.	.	X	175;175;175;175;175;51;175	.	ENSP00000354193:Q175X	Q	+	1	0	ABP1	150185014	0.000000	0.05858	0.001000	0.08648	0.261000	0.26267	0.377000	0.20552	0.237000	0.21200	0.655000	0.94253	CAA		0.582	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		40	111	0	0	0	0.006999	0	40	111				
KEAP1	9817	broad.mit.edu	37	19	10600426	10600426	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:10600426C>T	ENST00000171111.5	-	4	1976	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.G477S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	477					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCGTCAAAGCCCCCCACGGCA	0.577																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1429-1431)Ggc>Agc		kelch-like ECH-associated protein 1							85.0	69.0	74.0					19																	10600426		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600426C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1429G>A	19.37:g.10600426C>T	ENSP00000171111:p.Gly477Ser					KEAP1_ENST00000393623.2_Missense_Mutation_p.G477S	p.G477S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		4	1976	-			477					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1429G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352299	0.82132	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.99494	-6.01;-6.01	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97355	0.9966	10	0.87932	D	0	.	17.5827	0.87973	0.0:1.0:0.0:0.0	.	477	Q14145	KEAP1_HUMAN	S	477	ENSP00000171111:G477S;ENSP00000377245:G477S	ENSP00000171111:G477S	G	-	1	0	KEAP1	10461426	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	7.509000	0.81698	2.752000	0.94435	0.558000	0.71614	GGC		0.577	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		12	8	0	0	0	0.010729	0	12	8				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		5	54	0	0	0	0.006214	0	5	54				
TUBBP5	643224	broad.mit.edu	37	9	141070719	141070719	+	RNA	SNP	C	C	T	rs12353121	byFrequency	TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr9:141070719C>T	ENST00000503395.1	+	0	1494									tubulin, beta pseudogene 5																		GCGGAGCTGACGGAGTCAGTG	0.617													.|||	3726	0.74401	0.6657	0.8703	5008	,	,		10408	0.5883		0.8688	False		,,,				2504	0.7924					ENST00000503395.1																			0																																																			0							g.chr9:141070719C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070719C>T														0	1494	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.617	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	23	0	0	0	0.001984	0	4	23				
MT-ND4	4538	broad.mit.edu	37	M	11250	11250	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chrM:11250T>C	ENST00000361381.2	+	1	491	c.491T>C	c.(490-492)cTa>cCa	p.L164P	MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	164					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						ACTCATCGCACTAATTTACAC	0.478																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(490-492)cTa>cCa		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11250T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.491T>C	M.37:g.11250T>C	ENSP00000354961:p.Leu164Pro						p.164_164insP							1	491	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.491T>C																																																																																					0.478	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		10	792	0	0	0	0.006214	0	10	792				
CDH12	1010	broad.mit.edu	37	5	21842341	21842341	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr5:21842341C>T	ENST00000382254.1	-	8	1829	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CDH12_ENST00000522262.1_Missense_Mutation_p.G208E|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G248E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	248	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCGGCTAATCCTCCAAGCTG	0.423										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(742-744)gGa>gAa		cadherin 12, type 2 (N-cadherin 2)							347.0	262.0	291.0					5																	21842341		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21842341C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.743G>A	5.37:g.21842341C>T	ENSP00000371689:p.Gly248Glu	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Missense_Mutation_p.G208E|CDH12_ENST00000504376.2_Missense_Mutation_p.G248E|CDH12_ENST00000521384.1_5'UTR	p.G248E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			8	1829	-			248			Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.743G>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097091	0.94197	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.60040	0.63;0.63;0.22	5.34	5.34	0.76211	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.79948	-0.1588	10	0.87932	D	0	.	19.0468	0.93022	0.0:1.0:0.0:0.0	.	208;248	B7Z2U6;P55289	.;CAD12_HUMAN	E	248;248;208	ENSP00000423577:G248E;ENSP00000371689:G248E;ENSP00000428786:G208E	ENSP00000371689:G248E	G	-	2	0	CDH12	21878098	1.000000	0.71417	0.980000	0.43619	0.970000	0.65996	7.666000	0.83877	2.480000	0.83734	0.655000	0.94253	GGA		0.423	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		9	163	0	0	0	0.006214	0	9	163				
MT-ND2	4536	broad.mit.edu	37	M	2201	2201	+	5'Flank	SNP	G	G	A			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chrM:2201G>A	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CCAATTAAGAAAGCGTTCAAG	0.393																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2201G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2201G>A	Exception_encountered							NR_039705.1						0	531	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.393	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		11	676	0	0	0	0.002450	0	11	676				
MIR876	100126310	broad.mit.edu	37	9	28863696	28863696	+	RNA	SNP	A	A	C			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr9:28863696A>C	ENST00000401147.1	-	0	8					NR_030597.1				microRNA 876																		AGAAATCCACAGCACTTCACA	0.403																																						ENST00000401147.1																			0																				72.0	66.0	68.0					9																	28863696		1568	3582	5150			0							g.chr9:28863696A>C			9p21.1	2011-09-12		2008-12-18	ENSG00000215966	ENSG00000215966		"""ncRNAs / Micro RNAs"""	33653	non-coding RNA	RNA, micro				MIRN876			Standard	NR_030597		Approved	hsa-mir-876	uc022bfd.1				9.37:g.28863696A>C								NR_030597.1						0	8	-									RNA	SNP	ENST00000401147.1	37																																																																																						0.403	MIR876-201	KNOWN	basic	miRNA	miRNA		NR_030597		14	27	0	0	0	0.004007	0	14	27				
MT-ND2	4536	broad.mit.edu	37	M	2894	2894	+	5'Flank	SNP	T	T	C			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chrM:2894T>C	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TACTATACTCAATTGATCCAA	0.453																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2894T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2894T>C	Exception_encountered							NR_039705.1						0	1224	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.453	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		86	708	0	0	0	0.014410	0	86	708				
GNAT1	2779	broad.mit.edu	37	3	50230803	50230803	+	Silent	SNP	C	C	T			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr3:50230803C>T	ENST00000433068.1	+	3	311	c.255C>T	c.(253-255)acC>acT	p.T85T	GNAT1_ENST00000232461.3_Silent_p.T85T	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	85					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCGCCATGACCACACTCAACA	0.637																																						ENST00000232461.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(253-255)acC>acT		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1							84.0	71.0	76.0					3																	50230803		2203	4300	6503	SO:0001819	synonymous_variant	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50230803C>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.255C>T	3.37:g.50230803C>T						GNAT1_ENST00000433068.1_Silent_p.T85T	p.T85T	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	369	+			85					Q4VBN2	Silent	SNP	ENST00000433068.1	37	c.255C>T	CCDS2812.1																																																																																				0.637	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		8	31	0	0	0	0.008291	0	8	31				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	59	0	0	0	0.001984	0	4	59				
NFKBID	84807	broad.mit.edu	37	19	36387021	36387021	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:36387021G>A	ENST00000396901.1	-	9	1040	c.467C>T	c.(466-468)cCg>cTg	p.P156L	NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000606253.1_Missense_Mutation_p.P156L|NFKBID_ENST00000352614.2_Missense_Mutation_p.P308L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	156					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CGTGTGGAGCGGGGTGAGGCC	0.647																																						ENST00000396901.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						c.(466-468)cCg>cTg		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta							119.0	148.0	138.0					19																	36387021		2125	4219	6344	SO:0001583	missense	84807				inflammatory response	nucleus		g.chr19:36387021G>A	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.467C>T	19.37:g.36387021G>A	ENSP00000380109:p.Pro156Leu					NFKBID_ENST00000606253.1_Missense_Mutation_p.P156L|NFKBID_ENST00000352614.2_Missense_Mutation_p.P308L	p.P156L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN			9	1040	-			156					Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	c.467C>T	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389740	0.82902	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.51817	0.69;0.69	5.13	5.13	0.70059	Ankyrin repeat-containing domain (3);	0.117559	0.64402	D	0.000017	T	0.64316	0.2587	M	0.88979	2.995	0.80722	D	1	D;D	0.57571	0.975;0.98	P;P	0.49477	0.6;0.612	T	0.74438	-0.3665	10	0.87932	D	0	.	16.0724	0.80943	0.0:0.0:1.0:0.0	.	308;156	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	L	308;156	ENSP00000252985:P308L;ENSP00000380109:P156L	ENSP00000252985:P308L	P	-	2	0	NFKBID	41078861	1.000000	0.71417	0.933000	0.37362	0.911000	0.54048	7.924000	0.87555	2.393000	0.81446	0.561000	0.74099	CCG		0.647	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		9	75	0	0	0	0.006214	0	9	75				
MT-ND4	4538	broad.mit.edu	37	M	11693	11693	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chrM:11693G>A	ENST00000361381.2	+	1	934	c.934G>A	c.(934-936)Gca>Aca	p.A312T	MT-ND5_ENST00000361567.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	312					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						GCTTCACCGGCGCAGTCATTC	0.473																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(934-936)Gca>Aca		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11693G>A			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.934G>A	M.37:g.11693G>A	ENSP00000354961:p.Ala312Thr						p.312_312insT							1	934	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.934G>A																																																																																					0.473	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		69	680	0	0	0	0.014410	0	69	680				
MAP7D1	55700	broad.mit.edu	37	1	36643701	36643703	+	In_Frame_Del	DEL	AGA	AGA	-	rs3045695|rs141305015|rs200892098	byFrequency	TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr1:36643701_36643703delAGA	ENST00000373151.2	+	9	1823_1825	c.1607_1609delAGA	c.(1606-1611)gagaag>gag	p.K537del	MAP7D1_ENST00000316156.4_In_Frame_Del_p.K500del|MAP7D1_ENST00000373150.4_In_Frame_Del_p.K505del|MAP7D1_ENST00000373148.4_In_Frame_Del_p.K83del	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	537	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCAGTAACGAGAAGGAGTCAGC	0.719														323	0.0644968	0.003	0.0836	5008	,	,		9186	0.1964		0.0497	False		,,,				2504	0.0133					ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(1495-1500)gag>g		MAP7 domain containing 1				72,4170		17,38,2066						4.1	0.8		dbSNP_102	30	425,7795		48,329,3733	no	coding	MAP7D1	NM_018067.3		65,367,5799	A1A1,A1R,RR		5.1703,1.6973,3.9881				497,11965				SO:0001651	inframe_deletion	55700					cytoplasm|spindle		g.chr1:36643701_36643703delAGA	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1607_1609delAGA	1.37:g.36643701_36643703delAGA	ENSP00000362244:p.Lys537del					MAP7D1_ENST00000373151.2_In_Frame_Del_p.EK536del|MAP7D1_ENST00000373148.4_In_Frame_Del_p.EK82del|MAP7D1_ENST00000373150.4_In_Frame_Del_p.EK504del	p.EK499del			Q3KQU3	MA7D1_HUMAN			8	1949_1951	+		Myeloproliferative disorder(586;0.0393)	536			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	In_Frame_Del	DEL	ENST00000373151.2	37	c.1496_1498delAGA	CCDS30673.1																																																																																				0.719	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		3	4						3	4	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120805884	120805884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr12:120805884delA	ENST00000257552.2	-	4	282	c.194delT	c.(193-195)ttcfs	p.F65fs	RPS27P25_ENST00000477404.1_RNA	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	65	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAAGTGACGAAGCCGAAACC	0.657																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(193-195)tcfs		musashi RNA-binding protein 1							39.0	33.0	35.0					12																	120805884		2203	4300	6503	SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120805884delA	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.194delT	12.37:g.120805884delA	ENSP00000257552:p.Phe65fs						p.F65fs	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			4	282	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		65			RRM 1.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Del	DEL	ENST00000257552.2	37	c.194delT	CCDS9196.1																																																																																				0.657	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		9	11						9	11	---	---	---	---
APOBR	55911	broad.mit.edu	37	16	28507398	28507424	+	Splice_Site	DEL	GGGACAGCCTCAGGAGGGGAGGAGGCC	GGGACAGCCTCAGGAGGGGAGGAGGCC	-	rs148114931|rs365499|rs62034314|rs62034315|rs441214	byFrequency	TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC	ENST00000431282.1	+	2	1046_1058	c.1036_1048delGGGACAGCCTCAGGAGGGGAGGAGGCC	c.(1036-1050)gggacagcctcagga>ga	p.GTASG346del	APOBR_ENST00000564831.1_In_Frame_Del_p.GTASGGEEA355del|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Splice_Site_p.GTASG346del|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	346	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT	0.705																																						ENST00000564831.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(1036-1062)del		apolipoprotein B receptor				815,1911		288,239,836						-6.7	0.0		dbSNP_107	12	1986,4414		639,708,1853	no	coding-near-splice	APOBR	NM_018690.3		927,947,2689	A1A1,A1R,RR		31.0312,29.8973,30.6925				2801,6325				SO:0001630	splice_region_variant	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1048+1GGGACAGCCTCAGGAGGGGAGGAGGCC>-	16.37:g.28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC						APOBR_ENST00000431282.1_Splice_Site_p.346_splice|APOBR_ENST00000328423.5_Splice_Site_p.346_splice	p.GTASGGEEA355del	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			2	1069_1095	+			355			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	In_Frame_Del	DEL	ENST00000431282.1	37	c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC																																																																																					0.705	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804	In_Frame_Del	5	7						5	7	---	---	---	---
LRRC37A4P	55073	broad.mit.edu	37	17	43590674	43590675	+	RNA	INS	-	-	AAA	rs373528477		TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr17:43590674_43590675insAAA	ENST00000579913.1	-	0	1289				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		AACAAAAAAACAAAAAAAAAAC	0.332																																						ENST00000253803.2																			0																																																			0							g.chr17:43590674_43590675insAAA	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43590681_43590683dupAAA						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	INS	ENST00000579913.1	37																																																																																						0.332	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		2	4						2	4	---	---	---	---
CTC-512J12.4	0	broad.mit.edu	37	19	44917435	44917436	+	RNA	INS	-	-	TCCG	rs190459210		TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:44917435_44917436insTCCG	ENST00000588655.1	-	0	488																											TTCtccttccttctttccttcc	0.416																																						ENST00000588655.1																			0																																																			0							g.chr19:44917435_44917436insTCCG																													19.37:g.44917435_44917436insTCCG														0	488	-									RNA	INS	ENST00000588655.1	37																																																																																						0.416	CTC-512J12.4-001	KNOWN	NMD_likely_if_extended|basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000460829.1			5	7						5	7	---	---	---	---
LINC01598	105379478	broad.mit.edu	37	20	29589297	29589297	+	RNA	DEL	C	C	-	rs73620372|rs77299581		TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr20:29589297delC	ENST00000432067.1	-	0	152																											cttagcacttcttttgctgca	0.299																																						ENST00000432067.1																			0																																																			0							g.chr20:29589297delC																													20.37:g.29589297delC														0	152	-									RNA	DEL	ENST00000432067.1	37																																																																																						0.299	RP4-610C12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078489.3			2	4						2	4	---	---	---	---
