#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
LAMA3	3909	broad.mit.edu	37	18	21484047	21484047	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr18:21484047G>A	ENST00000313654.9	+	50	6710	c.6469G>A	c.(6469-6471)Gaa>Aaa	p.E2157K	LAMA3_ENST00000269217.6_Missense_Mutation_p.E548K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2101K|LAMA3_ENST00000587184.1_Missense_Mutation_p.E492K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2157	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAAGCAGCTGGAAGAGTGAGT	0.567																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(6469-6471)Gaa>Aaa		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						64.0	65.0	64.0					18																	21484047		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21484047G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6469G>A	18.37:g.21484047G>A	ENSP00000324532:p.Glu2157Lys					LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.E492K|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2101K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E548K	p.E2157K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			50	6710	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2157			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.6469G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829552	0.90955	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77489	2.21;-1.1;1.92	6.11	6.11	0.99139	.	.	.	.	.	D	0.86598	0.5971	M	0.70595	2.14	0.58432	D	0.999991	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;P	0.77004	0.985;0.989;0.948;0.873	D	0.86160	0.1593	9	0.52906	T	0.07	.	13.8713	0.63622	0.0692:0.0:0.9308:0.0	.	492;548;2101;2157	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	K	2157;2101;548	ENSP00000324532:E2157K;ENSP00000382432:E2101K;ENSP00000269217:E548K	ENSP00000269217:E548K	E	+	1	0	LAMA3	19738045	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	5.104000	0.64584	2.906000	0.99361	0.655000	0.94253	GAA		0.567	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		52	76	0	0	0	1	0	52	76				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	37	0	0	0	1	0	4	37				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	182	0	0	0	1	0	4	182				
ROPN1B	152015	broad.mit.edu	37	3	125701153	125701153	+	Missense_Mutation	SNP	C	C	T	rs376987830		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr3:125701153C>T	ENST00000514116.1	+	6	752	c.437C>T	c.(436-438)tCa>tTa	p.S146L	ROPN1B_ENST00000251776.4_Missense_Mutation_p.S146L|ROPN1B_ENST00000505382.1_Missense_Mutation_p.S54L|ROPN1B_ENST00000511082.1_Missense_Mutation_p.S54L			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	146					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GAGGTCTTATCATGTGACCAC	0.428																																						ENST00000514116.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8						c.(436-438)tCa>tTa		rhophilin associated tail protein 1B							156.0	132.0	140.0					3																	125701153		2203	4300	6503	SO:0001583	missense	152015				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity	g.chr3:125701153C>T	AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.437C>T	3.37:g.125701153C>T	ENSP00000426271:p.Ser146Leu					ROPN1B_ENST00000251776.4_Missense_Mutation_p.S146L|ROPN1B_ENST00000511082.1_Missense_Mutation_p.S54L|ROPN1B_ENST00000505382.1_Missense_Mutation_p.S54L	p.S146L			Q9BZX4	ROP1B_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	6	752	+			146					D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	37	c.437C>T	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	C	8.592	0.884702	0.17540	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000505382;ENST00000511082	T;T;T;T	0.25749	1.78;1.78;2.09;2.09	2.2	2.2	0.27929	.	0.124278	0.36374	N	0.002628	T	0.16896	0.0406	L	0.38175	1.15	0.27017	N	0.964559	B	0.33238	0.403	B	0.28232	0.087	T	0.18116	-1.0347	10	0.72032	D	0.01	-20.916	8.0396	0.30513	0.0:1.0:0.0:0.0	.	146	Q9BZX4	ROP1B_HUMAN	L	146;146;54;54	ENSP00000426271:S146L;ENSP00000251776:S146L;ENSP00000421662:S54L;ENSP00000424447:S54L	ENSP00000251776:S146L	S	+	2	0	ROPN1B	127183843	0.998000	0.40836	1.000000	0.80357	0.190000	0.23558	3.897000	0.56273	1.536000	0.49237	0.184000	0.17185	TCA		0.428	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		48	96	0	0	0	1	0	48	96				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	20	0	0	0	1	0	7	20				
IFI44L	10964	broad.mit.edu	37	1	79095498	79095498	+	Silent	SNP	G	G	T			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:79095498G>T	ENST00000370751.5	+	4	800	c.621G>T	c.(619-621)ggG>ggT	p.G207G	IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	207					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTCCAGTTGGGTCTGGAAAGT	0.453																																						ENST00000370751.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(619-621)ggG>ggT		interferon-induced protein 44-like							127.0	125.0	125.0					1																	79095498		2203	4300	6503	SO:0001819	synonymous_variant	10964					cytoplasm		g.chr1:79095498G>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.621G>T	1.37:g.79095498G>T						IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	p.G207G	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			4	800	+			207					Q86TE1|Q96B64|Q99984	Silent	SNP	ENST00000370751.5	37	c.621G>T	CCDS687.2																																																																																				0.453	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		3	38	1	0	1	1	1	3	38				
TMEM132B	114795	broad.mit.edu	37	12	126137125	126137125	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr12:126137125A>G	ENST00000299308.3	+	8	2046	c.2038A>G	c.(2038-2040)Agg>Ggg	p.R680G	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	680						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCAGACAAAAGGGCCATCGT	0.612																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2038-2040)Agg>Ggg		transmembrane protein 132B							64.0	66.0	65.0					12																	126137125		2137	4252	6389	SO:0001583	missense	114795					integral to membrane		g.chr12:126137125A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2038A>G	12.37:g.126137125A>G	ENSP00000299308:p.Arg680Gly					TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192G	p.R680G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	8	2046	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		680					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2038A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204961	0.79127	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13778	2.56;2.56	5.53	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.11623	0.0283	L	0.36672	1.1	0.58432	D	0.999997	P	0.35155	0.487	B	0.34779	0.189	T	0.12041	-1.0563	10	0.22109	T	0.4	.	12.664	0.56830	0.8617:0.1383:0.0:0.0	.	680	Q14DG7	T132B_HUMAN	G	680;192	ENSP00000299308:R680G;ENSP00000440436:R192G	ENSP00000299308:R680G	R	+	1	2	TMEM132B	124703078	1.000000	0.71417	0.898000	0.35279	0.921000	0.55340	3.785000	0.55424	0.895000	0.36342	-0.313000	0.08912	AGG		0.612	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		3	172	0	0	0	1	0	3	172				
OR6K2	81448	broad.mit.edu	37	1	158669597	158669597	+	Missense_Mutation	SNP	C	C	G	rs141159720	byFrequency	TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:158669597C>G	ENST00000359610.2	-	1	889	c.846G>C	c.(844-846)ttG>ttC	p.L282F		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAAGGGAGACAAAACTGCAA	0.403																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(844-846)ttG>ttC		olfactory receptor, family 6, subfamily K, member 2							99.0	95.0	96.0					1																	158669597		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669597C>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.846G>C	1.37:g.158669597C>G	ENSP00000352626:p.Leu282Phe						p.L282F	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	889	-	all_hematologic(112;0.0378)		282					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.846G>C	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734427	0.30774	.	.	ENSG00000196171	ENST00000359610	T	0.00202	8.56	4.94	0.778	0.18543	GPCR, rhodopsin-like superfamily (1);	0.526437	0.14024	N	0.346593	T	0.00073	0.0002	L	0.60455	1.87	0.09310	N	1	B	0.29671	0.254	B	0.41202	0.35	T	0.29941	-0.9995	10	0.66056	D	0.02	-7.6189	3.3173	0.07038	0.1399:0.5727:0.1359:0.1515	.	282	Q8NGY2	OR6K2_HUMAN	F	282	ENSP00000352626:L282F	ENSP00000352626:L282F	L	-	3	2	OR6K2	156936221	0.000000	0.05858	0.087000	0.20705	0.912000	0.54170	-1.640000	0.02009	-0.019000	0.14055	0.655000	0.94253	TTG		0.403	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		24	28	0	0	0	1	0	24	28				
ARID5B	84159	broad.mit.edu	37	10	63852302	63852302	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr10:63852302A>G	ENST00000279873.7	+	10	3490	c.3080A>G	c.(3079-3081)aAg>aGg	p.K1027R	ARID5B_ENST00000309334.5_Missense_Mutation_p.K784R	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1027					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCAGGGAAAAAGGCCCGGGCA	0.607																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(3079-3081)aAg>aGg		AT rich interactive domain 5B (MRF1-like)							64.0	73.0	70.0					10																	63852302		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852302A>G	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3080A>G	10.37:g.63852302A>G	ENSP00000279873:p.Lys1027Arg					ARID5B_ENST00000309334.5_Missense_Mutation_p.K784R	p.K1027R	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3490	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1027					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.3080A>G	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082179	0.76528	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.67698	-0.21;-0.28	5.72	5.72	0.89469	.	0.045424	0.85682	D	0.000000	T	0.79405	0.4440	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81398	-0.0951	10	0.87932	D	0	-21.9925	15.9898	0.80197	1.0:0.0:0.0:0.0	.	1027	Q14865	ARI5B_HUMAN	R	1027;784	ENSP00000279873:K1027R;ENSP00000308862:K784R	ENSP00000279873:K1027R	K	+	2	0	ARID5B	63522308	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.722000	0.91452	2.182000	0.69389	0.533000	0.62120	AAG		0.607	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		4	171	0	0	0	1	0	4	171				
UBN1	29855	broad.mit.edu	37	16	4920917	4920917	+	Silent	SNP	A	A	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr16:4920917A>G	ENST00000396658.4	+	10	2206	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	UBN1_ENST00000590769.1_Silent_p.K501K|UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000545171.1_Silent_p.K501K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	501					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K501K(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGAAGAAAAAGGGGGCAGGA	0.522																																						ENST00000396658.4																			1	Substitution - coding silent(1)	p.K501K(1)	lung(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1501-1503)aaA>aaG		ubinuclein 1							72.0	71.0	72.0					16																	4920917		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4920917A>G	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1503A>G	16.37:g.4920917A>G						UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K|UBN1_ENST00000545171.1_Silent_p.K501K	p.K501K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			10	2206	+			501					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.1503A>G	CCDS10525.1																																																																																				0.522	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		3	99	0	0	0	1	0	3	99				
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	A	G	rs199919711		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(2)|Substitution - coding silent(2)	p.N1071N(2)|p.N1071S(2)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aaT>aaC		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059040A>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3213T>C	15.37:g.79059040A>G							p.N1071N	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3423	-			1071					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.3213T>C	CCDS32303.1																																																																																				0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	75	0	0	0	1	0	3	75				
GPX2	2877	broad.mit.edu	37	14	65406325	65406325	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr14:65406325A>G	ENST00000389614.5	-	2	540	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	152					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	TCAAAGTTCCAGGCCACATCT	0.562																																						ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(454-456)Tgg>Cgg		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)						102.0	99.0	100.0					14																	65406325		1955	4152	6107	SO:0001583	missense	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65406325A>G		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.454T>C	14.37:g.65406325A>G	ENSP00000374265:p.Trp152Arg					CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.W152R	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	2	540	-			152					Q6PJ52|Q8WWI7|Q9NRP9	Missense_Mutation	SNP	ENST00000389614.5	37	c.454T>C	CCDS41964.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.799201	0.90538	.	.	ENSG00000176153	ENST00000389614;ENST00000557049	T;T	0.26810	1.71;3.53	6.05	6.05	0.98169	Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.72669	0.3489	H	0.99783	4.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85997	0.1492	10	0.87932	D	0	-1.216	15.5757	0.76380	1.0:0.0:0.0:0.0	.	152	P18283	GPX2_HUMAN	R	152;96	ENSP00000374265:W152R;ENSP00000451721:W96R	ENSP00000374265:W152R	W	-	1	0	GPX2	64476078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.320000	0.78422	0.528000	0.53228	TGG		0.562	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			3	127	0	0	0	1	0	3	127				
VAT1L	57687	broad.mit.edu	37	16	78005791	78005791	+	Silent	SNP	C	C	A			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr16:78005791C>A	ENST00000302536.2	+	8	1275	c.1122C>A	c.(1120-1122)ggC>ggA	p.G374G		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	374							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGAACATTGGCAAGTTAATTC	0.522											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302536.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1120-1122)ggC>ggA		vesicle amine transport 1-like							229.0	234.0	232.0					16																	78005791		2198	4300	6498	SO:0001819	synonymous_variant	57687						oxidoreductase activity|zinc ion binding	g.chr16:78005791C>A	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1122C>A	16.37:g.78005791C>A			OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1180		p.G374G	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN			8	1275	+			374					Q8IYW8	Silent	SNP	ENST00000302536.2	37	c.1122C>A	CCDS32492.1																																																																																				0.522	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		7	586	1	0	5.4927e-09	1	5.93806e-09	7	586				
AKAP9	10142	broad.mit.edu	37	7	91730275	91730275	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:91730275A>G	ENST00000359028.2	+	45	11239	c.11014A>G	c.(11014-11016)Agg>Ggg	p.R3672G	AKAP9_ENST00000356239.3_Missense_Mutation_p.R3668G|AKAP9_ENST00000358100.2_Missense_Mutation_p.R3618G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3672					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATCTTTGAAAAGGGCAGAGGC	0.393			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11014-11016)Agg>Ggg		A kinase (PRKA) anchor protein 9							82.0	83.0	83.0					7																	91730275		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91730275A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11014A>G	7.37:g.91730275A>G	ENSP00000351922:p.Arg3672Gly					AKAP9_ENST00000356239.3_Missense_Mutation_p.R3668G|AKAP9_ENST00000358100.2_Missense_Mutation_p.R3618G	p.R3672G			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		45	11239	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3672					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11014A>G		.	.	.	.	.	.	.	.	.	.	A	15.99	2.996280	0.54147	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03580	3.95;3.95;3.96;3.88	5.42	3.01	0.34805	.	0.000000	0.41823	D	0.000817	T	0.06280	0.0162	M	0.65975	2.015	0.27887	N	0.939467	P;P;P;P;P	0.41848	0.514;0.763;0.651;0.763;0.763	B;B;B;B;B	0.39027	0.212;0.229;0.15;0.288;0.288	T	0.08827	-1.0703	10	0.72032	D	0.01	.	12.1482	0.54036	0.4736:0.5264:0.0:0.0	.	943;3672;3672;3668;3660	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	G	3668;3672;3618;3672;1514	ENSP00000348573:R3668G;ENSP00000351922:R3672G;ENSP00000350813:R3618G;ENSP00000378042:R1514G	ENSP00000348573:R3668G	R	+	1	2	AKAP9	91568211	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.356000	0.52269	1.062000	0.40625	0.528000	0.53228	AGG		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		3	121	0	0	0	1	0	3	121				
N6AMT2	221143	broad.mit.edu	37	13	21306248	21306248	+	Silent	SNP	C	C	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr13:21306248C>G	ENST00000382758.1	-	4	287	c.240G>C	c.(238-240)gtG>gtC	p.V80V	N6AMT2_ENST00000382754.4_Silent_p.V80V			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	80						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TAGGGGCACTCACACATGCGA	0.398																																						ENST00000382758.1																			0				endometrium(1)|large_intestine(3)|lung(3)	7						c.(238-240)gtG>gtC		N-6 adenine-specific DNA methyltransferase 2 (putative)							84.0	87.0	86.0					13																	21306248		2202	4300	6502	SO:0001819	synonymous_variant	221143						methyltransferase activity|nucleic acid binding	g.chr13:21306248C>G	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.240G>C	13.37:g.21306248C>G						N6AMT2_ENST00000382754.4_Silent_p.V80V	p.V80V			Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	4	287	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	80					B5G4V1	Silent	SNP	ENST00000382758.1	37	c.240G>C	CCDS9293.1																																																																																				0.398	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		64	119	0	0	0	1	0	64	119				
PLEKHG1	57480	broad.mit.edu	37	6	151153024	151153024	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr6:151153024G>C	ENST00000358517.2	+	15	2988	c.2777G>C	c.(2776-2778)gGc>gCc	p.G926A	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.G926A			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	926							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCTAAAGAAGGCTCCTTTATG	0.572																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2776-2778)gGc>gCc		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							118.0	133.0	128.0					6																	151153024		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153024G>C	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2777G>C	6.37:g.151153024G>C	ENSP00000351318:p.Gly926Ala					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G926A	p.G926A	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3089	+			926					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2777G>C	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	g	6.794	0.515457	0.12944	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58210	0.35;0.35	5.81	-2.32	0.06745	.	0.734952	0.14514	N	0.314915	T	0.15392	0.0371	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.10450	0.003;0.003;0.005	T	0.32295	-0.9912	10	0.51188	T	0.08	.	9.7628	0.40543	0.4811:0.093:0.4259:0.0	.	733;926;926	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	A	926	ENSP00000356297:G926A;ENSP00000351318:G926A	ENSP00000351318:G926A	G	+	2	0	PLEKHG1	151194717	0.000000	0.05858	0.286000	0.24833	0.267000	0.26476	-0.434000	0.06939	-0.367000	0.08052	-0.735000	0.03563	GGC		0.572	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			129	213	0	0	0	1	0	129	213				
HMGB3	3149	broad.mit.edu	37	X	150156378	150156378	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chrX:150156378G>T	ENST00000325307.7	+	5	690	c.594G>T	c.(592-594)gaG>gaT	p.E198D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaTGAATAAA	0.463																																						ENST00000325307.7																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(592-594)gaG>gaT		high mobility group box 3							49.0	48.0	49.0					X																	150156378		2203	4299	6502	SO:0001583	missense	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156378G>T	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.594G>T	X.37:g.150156378G>T	ENSP00000359393:p.Glu198Asp					HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	690	+	Acute lymphoblastic leukemia(192;6.56e-05)		198			Asp/Glu-rich (acidic).		O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	c.594G>T	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	g	0.347	-0.947364	0.02304	.	.	ENSG00000029993	ENST00000325307;ENST00000448905	T;T	0.35048	1.33;1.33	4.84	-6.29	0.02013	.	0.320496	0.22526	N	0.058902	T	0.10208	0.0250	N	0.08118	0	0.20764	N	0.999851	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	9	.	.	.	.	0.6043	0.00750	0.3103:0.1878:0.1198:0.3821	.	198	O15347	HMGB3_HUMAN	D	198	ENSP00000359393:E198D;ENSP00000442758:E198D	.	E	+	3	2	HMGB3	149907036	0.210000	0.23517	0.059000	0.19551	0.160000	0.22226	0.068000	0.14531	-1.155000	0.02822	0.600000	0.82982	GAG		0.463	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	136	1	0	0.014758	1	0.0155347	4	136				
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs11260921	byFrequency	TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:17084510G>A	ENST00000455405.2	-	0	379							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577																																						ENST00000455405.2																			4	Substitution - coding silent(4)	p.L525L(2)|p.L530L(2)	endometrium(2)|kidney(2)																																																0							g.chr1:17084510G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084510G>A														0	379	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		10	98	0	0	0	1	0	10	98				
C7	730	broad.mit.edu	37	5	40979879	40979879	+	Missense_Mutation	SNP	C	C	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr5:40979879C>G	ENST00000313164.9	+	17	2577	c.2218C>G	c.(2218-2220)Ctg>Gtg	p.L740V	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	740	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GATACTGCCTCTGACAGTTTG	0.413																																						ENST00000313164.9																			0											c.(2218-2220)Ctg>Gtg		complement component 7							85.0	84.0	84.0					5																	40979879		1950	4154	6104	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40979879C>G	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2218C>G	5.37:g.40979879C>G	ENSP00000322061:p.Leu740Val					C7_ENST00000494960.1_3'UTR	p.L740V	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			17	2577	+		Ovarian(839;0.0112)	740			Complement control factor I module 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2218C>G	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579399	0.46006	.	.	ENSG00000112936	ENST00000313164	T	0.63417	-0.04	5.8	3.04	0.35103	Factor I / membrane attack complex (1);	0.397129	0.23021	N	0.052844	T	0.76709	0.4025	M	0.78801	2.425	0.33890	D	0.637252	D	0.63880	0.993	D	0.79108	0.992	T	0.81931	-0.0707	10	0.62326	D	0.03	-3.0459	10.6431	0.45604	0.0:0.7182:0.1029:0.179	.	740	P10643	CO7_HUMAN	V	740	ENSP00000322061:L740V	ENSP00000322061:L740V	L	+	1	2	C7	41015636	0.825000	0.29262	0.996000	0.52242	0.897000	0.52465	0.825000	0.27393	0.378000	0.24764	-1.255000	0.01485	CTG		0.413	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			28	35	0	0	0	1	0	28	35				
KIAA1217	56243	broad.mit.edu	37	10	24669920	24669920	+	Silent	SNP	T	T	C			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376452.3_Silent_p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(475-477)ccT>ccC		KIAA1217							62.0	63.0	63.0					10																	24669920		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669920T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.477T>C	10.37:g.24669920T>C						KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P	p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			3	507	+			159					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.477T>C	CCDS31165.1																																																																																				0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		3	113	0	0	0	1	0	3	113				
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(4)	p.N1071S(4)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aAt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059041T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3212A>G	15.37:g.79059041T>C	ENSP00000373472:p.Asn1071Ser						p.N1071S	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3422	-			1071					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3212A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	t	16.38	3.107658	0.56291	.	.	ENSG00000136378	ENST00000388820	T	0.61742	0.08	4.66	2.13	0.27403	.	0.056036	0.64402	D	0.000002	T	0.59252	0.2180	M	0.76002	2.32	0.35198	D	0.774007	P	0.48503	0.911	P	0.46144	0.505	T	0.66571	-0.5890	10	0.41790	T	0.15	.	10.1871	0.43004	0.0:0.0:0.3202:0.6798	.	1071	Q9UKP4	ATS7_HUMAN	S	1071	ENSP00000373472:N1071S	ENSP00000373472:N1071S	N	-	2	0	ADAMTS7	76846096	1.000000	0.71417	0.986000	0.45419	0.484000	0.33280	3.143000	0.50608	0.107000	0.17824	0.367000	0.22151	AAT		0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	76	0	0	0	1	0	3	76				
PKD1L1	168507	broad.mit.edu	37	7	47921639	47921639	+	Nonsense_Mutation	SNP	C	C	A	rs372058157		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:47921639C>A	ENST00000289672.2	-	20	3360	c.3310G>T	c.(3310-3312)Gag>Tag	p.E1104*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1104	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGCTCTCCTCGGCACTCAAG	0.527																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3310-3312)Gag>Tag		polycystic kidney disease 1 like 1							83.0	73.0	76.0					7																	47921639		2203	4300	6503	SO:0001587	stop_gained	168507				cell-cell adhesion	integral to membrane		g.chr7:47921639C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3310G>T	7.37:g.47921639C>A	ENSP00000289672:p.Glu1104*						p.E1104*	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			20	3360	-			1104			REJ.		Q6UWK1	Nonsense_Mutation	SNP	ENST00000289672.2	37	c.3310G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	40	7.999105	0.98602	.	.	ENSG00000158683	ENST00000289672	.	.	.	5.24	1.28	0.21552	.	1.520230	0.03937	N	0.286218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.7817	5.916	0.19055	0.0:0.5378:0.2949:0.1673	.	.	.	.	X	1104	.	ENSP00000289672:E1104X	E	-	1	0	PKD1L1	47888164	0.001000	0.12720	0.000000	0.03702	0.099000	0.18886	1.043000	0.30316	0.022000	0.15160	-0.143000	0.13931	GAG		0.527	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		3	110	1	0	1	1	1	3	110				
MSI2	124540	broad.mit.edu	37	17	55752345	55752345	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr17:55752345C>T	ENST00000284073.2	+	12	1012	c.803C>T	c.(802-804)gCg>gTg	p.A268V	MSI2_ENST00000442934.2_Missense_Mutation_p.A207V|MSI2_ENST00000416426.2_Missense_Mutation_p.A264V|MSI2_ENST00000579505.1_3'UTR	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	268						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCCAACCCGGCGCGGCCCGGA	0.642			T	HOXA9	CML																																	ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(802-804)gCg>gTg		musashi RNA-binding protein 2							48.0	63.0	58.0					17																	55752345		2199	4284	6483	SO:0001583	missense	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55752345C>T	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.803C>T	17.37:g.55752345C>T	ENSP00000284073:p.Ala268Val					MSI2_ENST00000416426.2_Missense_Mutation_p.A264V|MSI2_ENST00000442934.2_Missense_Mutation_p.A207V|MSI2_ENST00000579505.1_3'UTR	p.A268V	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	12	1012	+	Breast(9;1.78e-08)		268					Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.803C>T	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860037	0.51482	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000442934	D;T;T	0.83914	-1.78;1.97;2.86	4.48	4.48	0.54585	.	0.118233	0.64402	D	0.000019	T	0.69975	0.3171	L	0.27053	0.805	0.80722	D	1	P;P	0.37612	0.553;0.602	B;B	0.27796	0.025;0.083	T	0.69756	-0.5059	10	0.17369	T	0.5	.	17.1487	0.86773	0.0:1.0:0.0:0.0	.	264;268	B4DHE8;Q96DH6	.;MSI2H_HUMAN	V	264;268;207	ENSP00000414671:A264V;ENSP00000284073:A268V;ENSP00000392607:A207V	ENSP00000284073:A268V	A	+	2	0	MSI2	53107344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.038000	0.60285	0.491000	0.48974	GCG		0.642	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			5	253	0	0	0	1	0	5	253				
ATG9B	285973	broad.mit.edu	37	7	150714349	150714349	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:150714349G>A	ENST00000377974.2	-	9	2138	c.2063C>T	c.(2062-2064)gCg>gTg	p.A688V	ATG9B_ENST00000444312.1_Missense_Mutation_p.A174V|ATG9B_ENST00000605938.1_Missense_Mutation_p.A688V|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	688					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCTGTCCCGCCGAGAGCCA	0.592																																						ENST00000605938.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(2062-2064)gCg>gTg		autophagy related 9B							28.0	30.0	30.0					7																	150714349		2063	4217	6280	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150714349G>A	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2063C>T	7.37:g.150714349G>A	ENSP00000475005:p.Ala688Val					ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.A688V|ATG9B_ENST00000444312.1_Missense_Mutation_p.A174V	p.A688V	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	2138	-	all_neural(206;0.219)		688					A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.2063C>T		.	.	.	.	.	.	.	.	.	.	G	5.053	0.195507	0.09599	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.08	0.726	0.18248	.	0.298945	0.34700	N	0.003744	T	0.45716	0.1356	.	.	.	.	.	.	B	0.20887	0.049	B	0.15052	0.012	T	0.48055	-0.9068	7	0.41790	T	0.15	-2.3681	12.7549	0.57328	0.0:0.0:0.2641:0.7359	.	688	Q674R7	ATG9B_HUMAN	V	688;174;688	.	ENSP00000444232:A688V	A	-	2	0	AC010973.1	150345282	0.796000	0.28864	0.030000	0.17652	0.090000	0.18270	1.106000	0.31098	-0.187000	0.10516	0.491000	0.48974	GCG		0.592	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		3	50	0	0	0	1	0	3	50				
CACNA1E	777	broad.mit.edu	37	1	181452990	181452990	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:181452990C>T	ENST00000367573.2	+	1	110	c.110C>T	c.(109-111)gCc>gTc	p.A37V	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A37V|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A37V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A37V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	37					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGCAGGCGGCCGCCTACAAG	0.652																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(109-111)gCc>gTc		calcium channel, voltage-dependent, R type, alpha 1E subunit							50.0	58.0	55.0					1																	181452990		1884	4088	5972	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181452990C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.110C>T	1.37:g.181452990C>T	ENSP00000356545:p.Ala37Val					CACNA1E_ENST00000367570.1_Missense_Mutation_p.A37V|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A37V|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A37V	p.A37V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			1	275	+			37					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.110C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296198	0.60086	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000360108;ENST00000367573	D;D;D;D;D	0.97209	-4.29;-3.89;-3.88;-3.88;-3.89	5.67	5.67	0.87782	.	0.076709	0.49916	D	0.000121	D	0.95723	0.8609	L	0.34521	1.04	0.80722	D	1	P	0.50819	0.939	P	0.50314	0.637	D	0.94469	0.7683	10	0.25751	T	0.34	.	17.2721	0.87105	0.0:1.0:0.0:0.0	.	37	Q15878-3	.	V	37	ENSP00000432038:A37V;ENSP00000356542:A37V;ENSP00000434814:A37V;ENSP00000353222:A37V;ENSP00000356545:A37V	ENSP00000353222:A37V	A	+	2	0	CACNA1E	179719613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.922000	0.56462	2.667000	0.90743	0.561000	0.74099	GCC		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	145	0	0	0	1	0	4	145				
MALAT1	378938	broad.mit.edu	37	11	65266387	65266387	+	lincRNA	SNP	A	A	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr11:65266387A>G	ENST00000534336.1	+	0	1155				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CTAGAAAAGTAAAACTAGAAC	0.393																																						ENST00000534336.1																			0																				67.0	72.0	70.0					11																	65266387		874	1988	2862			0							g.chr11:65266387A>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266387A>G								NR_002819.2						0	1155	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.393	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		31	51	0	0	0	1	0	31	51				
PIWIL4	143689	broad.mit.edu	37	11	94318686	94318686	+	Silent	SNP	G	G	A			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr11:94318686G>A	ENST00000299001.6	+	6	922	c.711G>A	c.(709-711)caG>caA	p.Q237Q	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	237					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAATTCCCCAGCACAAGTAGG	0.328																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(709-711)caG>caA		piwi-like RNA-mediated gene silencing 4							103.0	109.0	107.0					11																	94318686		2201	4297	6498	SO:0001819	synonymous_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94318686G>A	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.711G>A	11.37:g.94318686G>A						RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.Q237Q	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			6	922	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	237					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.711G>A	CCDS31656.1																																																																																				0.328	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		4	191	0	0	0	1	0	4	191				
TMEM178A	130733	broad.mit.edu	37	2	39934227	39934227	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr2:39934227G>A	ENST00000281961.2	+	3	609	c.553G>A	c.(553-555)Gta>Ata	p.V185I	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	185						integral component of membrane (GO:0016021)											CGGCATGGCCGTAGCCGTCCT	0.488																																						ENST00000281961.2																			0											c.(553-555)Gta>Ata		transmembrane protein 178A							73.0	66.0	68.0					2																	39934227		2203	4300	6503	SO:0001583	missense	130733							g.chr2:39934227G>A	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.553G>A	2.37:g.39934227G>A	ENSP00000281961:p.Val185Ile					TMEM178A_ENST00000482239.1_3'UTR	p.V185I	NM_152390.2	NP_689603.2					3	609	+								Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	c.553G>A	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777080	0.70107	.	.	ENSG00000152154	ENST00000281961	T	0.67523	-0.27	5.19	5.19	0.71726	.	0.110586	0.64402	D	0.000013	T	0.55561	0.1928	L	0.34521	1.04	0.40926	D	0.98435	B	0.24618	0.107	B	0.19946	0.027	T	0.52495	-0.8568	9	.	.	.	-9.3194	16.2261	0.82293	0.0:0.0:1.0:0.0	.	185	Q8NBL3	TM178_HUMAN	I	185	ENSP00000281961:V185I	.	V	+	1	0	TMEM178	39787731	1.000000	0.71417	0.112000	0.21494	0.878000	0.50629	8.818000	0.91991	2.437000	0.82529	0.655000	0.94253	GTA		0.488	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		3	75	0	0	0	1	0	3	75				
ZNF223	7766	broad.mit.edu	37	19	44570331	44570331	+	Missense_Mutation	SNP	C	C	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr19:44570331C>G	ENST00000434772.3	+	5	605	c.350C>G	c.(349-351)tCt>tGt	p.S117C	ZNF223_ENST00000591793.1_Missense_Mutation_p.S227C	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CCTCAAGACTCTACCATAAAG	0.473																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(679-681)tCt>tGt		zinc finger protein 223							79.0	70.0	73.0					19																	44570331		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44570331C>G	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.350C>G	19.37:g.44570331C>G	ENSP00000401947:p.Ser117Cys					ZNF223_ENST00000434772.3_Missense_Mutation_p.S117C	p.S227C			Q9UK11	ZN223_HUMAN			7	763	+		Prostate(69;0.0352)	117					Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.680C>G	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910205	0.33721	.	.	ENSG00000178386	ENST00000434772	T	0.05319	3.46	2.7	0.395	0.16304	.	.	.	.	.	T	0.12305	0.0299	L	0.50333	1.59	0.09310	N	1	D	0.67145	0.996	P	0.58391	0.838	T	0.16897	-1.0387	9	0.66056	D	0.02	.	5.482	0.16729	0.0:0.6537:0.2104:0.1358	.	117	Q9UK11	ZN223_HUMAN	C	117	ENSP00000401947:S117C	ENSP00000401947:S117C	S	+	2	0	ZNF223	49262171	0.000000	0.05858	0.001000	0.08648	0.135000	0.20990	-0.402000	0.07223	0.411000	0.25702	0.313000	0.20887	TCT		0.473	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			41	50	0	0	0	1	0	41	50				
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1669-1671)atfs		prominin 1							189.0	187.0	188.0					4																	15995680		1901	4120	6021	SO:0001589	frameshift_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995680delT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs					PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs	p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2282	-			566					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	c.1670delA	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		8	190						8	190	---	---	---	---
MIR9-2	407047	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581																																						ENST00000510274.1																			0																																																			0							g.chr5:87980814_87980816delGAG																													5.37:g.87980823_87980825delGAG														0	46	+									RNA	DEL	ENST00000510274.1	37																																																																																						0.581	CTC-467M3.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369794.1			4	5						4	5	---	---	---	---
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs74332804		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554				TPTE2P6_ENST00000440905.1_RNA																							AAAATGGGAGGTTTTTTTAGGG	0.411																																						ENST00000453498.1																			0																																																			0							g.chr13:25157747_25157748insT																													13.37:g.25157754_25157754dupT														0	554	+									RNA	INS	ENST00000453498.1	37																																																																																						0.411	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			6	12						6	12	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(214-219)gaa>ga		chromosome 17 open reading frame 85																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del	p.EE78del			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1111_1113	-			358					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.216_218delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		9	213						9	213	---	---	---	---
CABLES1	91768	broad.mit.edu	37	18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-	rs201595073|rs139352344	byFrequency	TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785														1123	0.224241	0.2602	0.17	5008	,	,		3844	0.244		0.2048	False		,,,				2504	0.2137					ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(289-297)del		Cdk5 and Abl enzyme substrate 1																																				SO:0001651	inframe_deletion	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20716015_20716023delGGCGCCGGC	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.289_297delGGCGCCGGC	18.37:g.20716015_20716023delGGCGCCGGC	ENSP00000256925:p.Gly97_Gly99del					CABLES1_ENST00000400473.2_Intron	p.GAG97del	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			1	289_297	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		97			Ala-rich.|Interacts with TDRD7 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	In_Frame_Del	DEL	ENST00000256925.7	37	c.289_297delGGCGCCGGC	CCDS42417.1																																																																																				0.785	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		5	1						5	1	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			7	119						7	119	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				4	8						4	8	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	231						7	231	---	---	---	---
MORC4	79710	broad.mit.edu	37	X	106186335	106186335	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chrX:106186335delA	ENST00000355610.4	-	15	2060	c.1786delT	c.(1786-1788)tacfs	p.Y596fs	MORC4_ENST00000535534.1_Frame_Shift_Del_p.Y344fs|MORC4_ENST00000255495.7_Frame_Shift_Del_p.Y596fs	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	596						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ACCCTCCTGTAAGGAGCAGGC	0.463																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1786-1788)acfs		MORC family CW-type zinc finger 4							148.0	144.0	145.0					X																	106186335		2203	4300	6503	SO:0001589	frameshift_variant	79710						ATP binding|zinc ion binding	g.chrX:106186335delA	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1786delT	X.37:g.106186335delA	ENSP00000347821:p.Tyr596fs					MORC4_ENST00000255495.7_Frame_Shift_Del_p.Y596fs|MORC4_ENST00000535534.1_Frame_Shift_Del_p.Y344fs	p.Y596fs	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			15	2060	-			596					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Frame_Shift_Del	DEL	ENST00000355610.4	37	c.1786delT	CCDS14525.2																																																																																				0.463	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		18	208						18	208	---	---	---	---
