#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
GABRG2	2566	broad.mit.edu	37	5	161580306	161580306	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr5:161580306C>T	ENST00000361925.4	+	9	1556	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	GABRG2_ENST00000393933.4_Missense_Mutation_p.R351W|GABRG2_ENST00000414552.2_Missense_Mutation_p.R494W|GABRG2_ENST00000356592.3_Missense_Mutation_p.R454W			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	446					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCCTATGCTCGGATCTTCTT	0.463																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1360-1362)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, gamma 2							272.0	274.0	273.0					5																	161580306		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580306C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1336C>T	5.37:g.161580306C>T	ENSP00000354651:p.Arg446Trp					GABRG2_ENST00000361925.4_Missense_Mutation_p.R446W|GABRG2_ENST00000414552.2_Missense_Mutation_p.R494W|GABRG2_ENST00000393933.4_Missense_Mutation_p.R351W	p.R454W	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	10	1820	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	446					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1360C>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839572	0.71488	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.95	5.07	0.68467	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.97110	1.0;0.812;1.0	D	0.96915	0.9670	10	0.87932	D	0	.	16.4014	0.83642	0.1327:0.8673:0.0:0.0	.	494;446;454	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	W	454;494;446;351	ENSP00000349000:R454W;ENSP00000410732:R494W;ENSP00000354651:R446W;ENSP00000377510:R351W	ENSP00000349000:R454W	R	+	1	2	GABRG2	161512884	1.000000	0.71417	0.930000	0.37139	0.991000	0.79684	4.676000	0.61627	1.483000	0.48342	0.655000	0.94253	CGG		0.463	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			8	142	0	0	0	1	0	8	142				
CHCHD6	84303	broad.mit.edu	37	3	126445989	126445989	+	Silent	SNP	C	C	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr3:126445989C>A	ENST00000290913.3	+	2	249	c.156C>A	c.(154-156)acC>acA	p.T52T	CHCHD6_ENST00000508789.1_Silent_p.T52T	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	52					cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						CATCTTCTACCTTTGGCCTTC	0.512																																						ENST00000508789.1																			0				endometrium(2)|large_intestine(3)|lung(3)	8						c.(154-156)acC>acA		coiled-coil-helix-coiled-coil-helix domain containing 6							117.0	112.0	114.0					3																	126445989		2203	4300	6503	SO:0001819	synonymous_variant	84303							g.chr3:126445989C>A	BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28184	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 23"", ""coiled-coil-helix cristae morphology 1"""	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.156C>A	3.37:g.126445989C>A						CHCHD6_ENST00000290913.3_Silent_p.T52T	p.T52T			Q9BRQ6	CHCH6_HUMAN			2	228	+			52					D6R9U0|D6RIB4|H8Y0Y7	Silent	SNP	ENST00000290913.3	37	c.156C>A	CCDS3041.1																																																																																				0.512	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356432.1	NM_032343		4	129	1	0	1.23904e-05	1	1.37671e-05	4	129				
MUC6	4588	broad.mit.edu	37	11	1024858	1024858	+	Missense_Mutation	SNP	T	T	G	rs201059141		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr11:1024858T>G	ENST00000421673.2	-	24	3261	c.3211A>C	c.(3211-3213)Acc>Ccc	p.T1071P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1071	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGCAGGTGGCAAAGGTC	0.687																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3211-3213)Acc>Ccc		mucin 6, oligomeric mucus/gel-forming							19.0	23.0	21.0					11																	1024858		2012	4161	6173	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1024858T>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3211A>C	11.37:g.1024858T>G	ENSP00000406861:p.Thr1071Pro						p.T1071P	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	24	3261	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1071			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3211A>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	5.483	0.274125	0.10403	.	.	ENSG00000184956	ENST00000421673	T	0.76448	-1.02	3.9	1.94	0.25998	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.30732	U	0.008986	T	0.53094	0.1775	N	0.04705	-0.18	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.46428	-0.9192	10	0.62326	D	0.03	.	5.673	0.17733	0.1433:0.6403:0.1383:0.0781	.	1071	Q6W4X9	MUC6_HUMAN	P	1071	ENSP00000406861:T1071P	ENSP00000406861:T1071P	T	-	1	0	MUC6	1014858	0.442000	0.25633	0.146000	0.22360	0.043000	0.13939	0.979000	0.29500	0.091000	0.17302	-1.147000	0.01851	ACC		0.687	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		6	29	0	0	0	1	0	6	29				
ARID1B	57492	broad.mit.edu	37	6	157502129	157502129	+	Silent	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:157502129G>A	ENST00000350026.5	+	11	3124	c.3123G>A	c.(3121-3123)ggG>ggA	p.G1041G	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Silent_p.G1036G|ARID1B_ENST00000367148.1_Silent_p.G1094G|ARID1B_ENST00000346085.5_Silent_p.G1054G	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1041					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCACTACTGGGGAGAAGATCA	0.552																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3160-3162)ggG>ggA		AT rich interactive domain 1B (SWI1-like)							67.0	55.0	59.0					6																	157502129		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157502129G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3123G>A	6.37:g.157502129G>A						ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000275248.4_Silent_p.G1036G|ARID1B_ENST00000350026.5_Silent_p.G1041G|ARID1B_ENST00000367148.1_Silent_p.G1094G	p.G1054G	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	12	3163	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1041			ARID.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.3162G>A	CCDS5251.2																																																																																				0.552	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		3	46	0	0	0	1	0	3	46				
DNAAF1	123872	broad.mit.edu	37	16	84199466	84199466	+	Missense_Mutation	SNP	G	G	A	rs374704486		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr16:84199466G>A	ENST00000378553.5	+	7	1065	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.R314Q	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	314					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGCAGGGAGCGGAAGAAGATC	0.532																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(940-942)cGg>cAg		dynein, axonemal, assembly factor 1		G	GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	177.0	165.0	169.0		941	-7.3	0.4	16		169	0,8600		0,0,4300	no	missense	DNAAF1	NM_178452.4	43	0,2,6498	AA,AG,GG		0.0,0.0455,0.0154	benign	314/726	84199466	2,12998	2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84199466G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.941G>A	16.37:g.84199466G>A	ENSP00000367815:p.Arg314Gln					DNAAF1_ENST00000334315.5_Missense_Mutation_p.R314Q|DNAAF1_ENST00000563818.1_3'UTR	p.R314Q	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			7	1065	+			314					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.941G>A	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	9.684	1.150022	0.21371	4.55E-4	0.0	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.35048	1.33;1.73	5.66	-7.31	0.01441	.	0.400743	0.25842	N	0.027960	T	0.20901	0.0503	L	0.39566	1.225	0.30057	N	0.811268	P;B	0.34780	0.468;0.085	B;B	0.25291	0.059;0.014	T	0.00829	-1.1549	10	0.36615	T	0.2	-2.4457	14.9045	0.70709	0.63:0.0:0.37:0.0	.	62;314	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	Q	314	ENSP00000334593:R314Q;ENSP00000367815:R314Q	ENSP00000334593:R314Q	R	+	2	0	DNAAF1	82756967	0.958000	0.32768	0.381000	0.26106	0.090000	0.18270	-0.060000	0.11712	-1.653000	0.01500	-1.000000	0.02509	CGG		0.532	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		4	103	0	0	0	1	0	4	103				
ADAMTS7	11173	broad.mit.edu	37	15	79058842	79058842	+	Silent	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr15:79058842G>A	ENST00000388820.4	-	19	3621	c.3411C>T	c.(3409-3411)gcC>gcT	p.A1137A	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1137					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)			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						GGGAGCGGCCGGCCTGGCTAG	0.677																																						ENST00000388820.4																			0				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.(3409-3411)gcC>gcT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							5.0	6.0	6.0					15																	79058842		1925	3931	5856	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058842G>A	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.3411C>T	15.37:g.79058842G>A							p.A1137A	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3621	-			1137					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.3411C>T	CCDS32303.1																																																																																				0.677	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	12	0	0	0	1	0	3	12				
TMEM246	84302	broad.mit.edu	37	9	104239325	104239325	+	Missense_Mutation	SNP	C	C	T	rs146931036		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr9:104239325C>T	ENST00000374851.1	-	4	1197	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R17Q|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R17Q			Q9BRR3	TM246_HUMAN	transmembrane protein 246	17						integral component of membrane (GO:0016021)											CCAGGAGAGTCGCCGCAGCCT	0.562																																						ENST00000374851.1																			0											c.(49-51)cGa>cAa		transmembrane protein 246		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	32.0	35.0	34.0		50	4.7	1.0	9	dbSNP_134	34	0,8600		0,0,4300	no	missense	C9orf125	NM_032342.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	17/404	104239325	1,13005	2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104239325C>T	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.50G>A	9.37:g.104239325C>T	ENSP00000363984:p.Arg17Gln					RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R17Q|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R17Q|RP11-490D19.6_ENST00000450109.1_RNA	p.R17Q			Q9BRR3	CI125_HUMAN			4	1197	-			17					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.50G>A	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026051	0.54683	2.27E-4	0.0	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.65	4.67	0.58626	.	0.800615	0.11155	N	0.593730	T	0.24509	0.0594	L	0.29908	0.895	0.34162	D	0.668813	P	0.50617	0.937	B	0.29077	0.098	T	0.23368	-1.0190	9	0.19590	T	0.45	-10.9028	12.5514	0.56229	0.1771:0.8229:0.0:0.0	.	17	Q9BRR3	CI125_HUMAN	Q	17	.	ENSP00000363980:R17Q	R	-	2	0	C9orf125	103279146	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.678000	0.37586	2.640000	0.89533	0.650000	0.86243	CGA		0.562	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		4	37	0	0	0	1	0	4	37				
HIST1H2AD	3013	broad.mit.edu	37	6	26199153	26199153	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:26199153C>A	ENST00000341023.1	-	1	318	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	107						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				GGCAGAACACCGCCCTGAGCA	0.522																																						ENST00000341023.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(319-321)Ggt>Tgt		histone cluster 1, H2ad							134.0	119.0	124.0					6																	26199153		2203	4300	6503	SO:0001583	missense	3013				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26199153C>A	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.319G>T	6.37:g.26199153C>A	ENSP00000341094:p.Gly107Cys					HIST1H3D_ENST00000377831.5_5'UTR	p.G107C	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN			1	318	-		all_hematologic(11;0.196)	107					A0PK91|P57754|Q6FGY6	Missense_Mutation	SNP	ENST00000341023.1	37	c.319G>T	CCDS4591.1	.	.	.	.	.	.	.	.	.	.	.	14.99	2.699216	0.48307	.	.	ENSG00000196866	ENST00000341023	T	0.54866	0.55	4.82	4.82	0.62117	Histone-fold (2);Histone H2A (2);	0.000000	0.43919	U	0.000512	T	0.75095	0.3803	M	0.92026	3.265	0.47949	D	0.999552	D	0.89917	1.0	D	0.91635	0.999	T	0.81931	-0.0707	10	0.87932	D	0	.	17.2301	0.86982	0.0:1.0:0.0:0.0	.	107	P20671	H2A1D_HUMAN	C	107	ENSP00000341094:G107C	ENSP00000341094:G107C	G	-	1	0	HIST1H2AD	26307132	1.000000	0.71417	0.989000	0.46669	0.239000	0.25481	7.626000	0.83164	2.373000	0.80994	0.655000	0.94253	GGT		0.522	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1	NM_021065		4	137	1	0	0.150653	1	0.150653	4	137				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	89	0	0	0	1	0	4	89				
RNGTT	8732	broad.mit.edu	37	6	89673074	89673074	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:89673074G>A	ENST00000369485.4	-	1	241	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	RNGTT_ENST00000265607.6_Missense_Mutation_p.P19S|RNGTT_ENST00000538899.1_5'UTR|AL079342.1_ENST00000369474.1_5'Flank|RNGTT_ENST00000369475.3_Missense_Mutation_p.P19S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	19	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CCTGCCACCGGCTGGCCGCGC	0.667																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(55-57)Ccg>Tcg		RNA guanylyltransferase and 5'-phosphatase							25.0	29.0	28.0					6																	89673074		2198	4294	6492	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89673074G>A	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.55C>T	6.37:g.89673074G>A	ENSP00000358497:p.Pro19Ser					RNGTT_ENST00000538899.1_5'UTR|RNGTT_ENST00000369475.3_Missense_Mutation_p.P19S|RNGTT_ENST00000265607.6_Missense_Mutation_p.P19S	p.P19S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	1	241	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	19			TPase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.55C>T	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	G	7.202	0.593696	0.13875	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000369475	T;T;T	0.30448	1.96;1.96;1.53	4.02	4.02	0.46733	.	0.174629	0.51477	D	0.000089	T	0.11324	0.0276	L	0.47716	1.5	0.80722	D	1	B;B;B	0.14805	0.011;0.01;0.006	B;B;B	0.16289	0.007;0.015;0.007	T	0.04320	-1.0960	10	0.09338	T	0.73	-2.0705	11.8451	0.52378	0.0:0.0:1.0:0.0	.	19;19;19	Q5TCW7;O60942-2;O60942	.;.;MCE1_HUMAN	S	19	ENSP00000358497:P19S;ENSP00000265607:P19S;ENSP00000358487:P19S	ENSP00000265607:P19S	P	-	1	0	RNGTT	89729793	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.076000	0.57591	2.258000	0.74832	0.491000	0.48974	CCG		0.667	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			3	59	0	0	0	1	0	3	59				
FAM86B2	653333	broad.mit.edu	37	8	12287957	12287957	+	Missense_Mutation	SNP	C	C	T	rs148629503		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr8:12287957C>T	ENST00000262365.4	-	4	243	c.244G>A	c.(244-246)Gag>Aag	p.E82K	FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000309608.5_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	82										endometrium(1)|kidney(2)	3						TGGACAGCCTCGTGCTGGGGG	0.537																																						ENST00000262365.4																			0				endometrium(1)|kidney(2)	3						c.(244-246)Gag>Aag		family with sequence similarity 86, member B2							13.0	16.0	15.0					8																	12287957		689	1588	2277	SO:0001583	missense	653333							g.chr8:12287957C>T		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.244G>A	8.37:g.12287957C>T	ENSP00000262365:p.Glu82Lys					FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron	p.E82K	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN			4	243	-			82						Missense_Mutation	SNP	ENST00000262365.4	37	c.244G>A	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	-	13.25	2.180194	0.38511	.	.	ENSG00000145002	ENST00000262365	T	0.25414	1.8	1.16	1.16	0.20824	.	.	.	.	.	T	0.24661	0.0598	M	0.80982	2.52	0.80722	D	1	P	0.46395	0.877	B	0.36766	0.232	T	0.20940	-1.0260	9	0.72032	D	0.01	.	5.7399	0.18087	0.0:1.0:0.0:0.0	.	82	P0C5J1	F86B2_HUMAN	K	82	ENSP00000262365:E82K	ENSP00000262365:E82K	E	-	1	0	FAM86B2	12332328	0.994000	0.37717	0.994000	0.49952	0.123000	0.20343	2.765000	0.47621	0.945000	0.37605	0.162000	0.16502	GAG		0.537	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		9	47	0	0	0	1	0	9	47				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		5	135	0	0	0	1	0	5	135				
CTSL	1514	broad.mit.edu	37	9	90343270	90343270	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr9:90343270G>T	ENST00000343150.5	+	4	1245	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	CTSL_ENST00000340342.6_Missense_Mutation_p.D119Y|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Missense_Mutation_p.D119Y			P07711	CATL1_HUMAN	cathepsin L	119					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										CAGATCTGTGGATTGGAGAGA	0.493																																						ENST00000343150.5																			0											c.(355-357)Gat>Tat		cathepsin L							64.0	61.0	62.0					9																	90343270		2203	4300	6503	SO:0001583	missense	1514							g.chr9:90343270G>T	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.355G>T	9.37:g.90343270G>T	ENSP00000345344:p.Asp119Tyr					CTSL_ENST00000342020.5_Missense_Mutation_p.D119Y|CTSL_ENST00000340342.6_Missense_Mutation_p.D119Y|CTSL_ENST00000495822.1_Intron	p.D119Y							4	1245	+								Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	c.355G>T	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455962	0.63401	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	T;T;T	0.52526	0.66;0.66;0.66	4.51	2.62	0.31277	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81427	0.4820	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85536	0.1212	10	0.87932	D	0	.	11.0618	0.47953	0.1554:0.0:0.8446:0.0	.	119	P07711	CATL1_HUMAN	Y	119	ENSP00000345344:D119Y;ENSP00000365061:D119Y;ENSP00000340470:D119Y	ENSP00000365061:D119Y	D	+	1	0	CTSL1	89533090	1.000000	0.71417	0.637000	0.29366	0.696000	0.40369	6.881000	0.75584	0.487000	0.27698	0.655000	0.94253	GAT		0.493	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		6	69	1	0	0.0215528	1	0.0226871	6	69				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		5	130	0	0	0	1	0	5	130				
MKRN1	23608	broad.mit.edu	37	7	140158931	140158931	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr7:140158931T>C	ENST00000255977.2	-	4	871	c.647A>G	c.(646-648)tAt>tGt	p.Y216C	MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000474576.1_Missense_Mutation_p.Y152C|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.Y216C	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	216					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CACTGCAGCATAGGGGCACAG	0.562																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(646-648)tAt>tGt		makorin ring finger protein 1							150.0	146.0	147.0					7																	140158931		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140158931T>C	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.647A>G	7.37:g.140158931T>C	ENSP00000255977:p.Tyr216Cys					MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.Y216C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.Y152C	p.Y216C	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			4	871	-	Melanoma(164;0.00956)		216					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.647A>G	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377298	0.82682	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000443720;ENST00000471104;ENST00000467513	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.64	4.91	4.91	0.64330	Zinc finger, CCCH-type (3);	0.117488	0.64402	D	0.000013	T	0.62636	0.2444	M	0.88450	2.955	0.80722	D	1	B	0.25272	0.122	B	0.30105	0.111	T	0.67554	-0.5641	10	0.66056	D	0.02	.	14.7194	0.69294	0.0:0.0:0.0:1.0	.	216	Q9UHC7	MKRN1_HUMAN	C	216;152;152;216;152;152	ENSP00000255977:Y216C;ENSP00000417863:Y152C;ENSP00000416369:Y216C;ENSP00000418864:Y152C;ENSP00000418588:Y152C	ENSP00000255977:Y216C	Y	-	2	0	MKRN1	139805400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.067000	0.61834	0.454000	0.30748	TAT		0.562	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		4	146	0	0	0	1	0	4	146				
OR4A16	81327	broad.mit.edu	37	11	55111531	55111531	+	Silent	SNP	C	C	T	rs78253574		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr11:55111531C>T	ENST00000314721.2	+	1	905	c.855C>T	c.(853-855)taC>taT	p.Y285Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y285*(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTTTAATATACTCGTTGAGAC	0.303																																						ENST00000314721.2																			1	Substitution - Nonsense(1)	p.Y285*(1)	upper_aerodigestive_tract(1)	NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(853-855)taC>taT		olfactory receptor, family 4, subfamily A, member 16							64.0	61.0	62.0					11																	55111531		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111531C>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.855C>T	11.37:g.55111531C>T							p.Y285Y	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	905	+			285					Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.855C>T	CCDS31499.1																																																																																				0.303	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		3	42	0	0	0	1	0	3	42				
RNF145	153830	broad.mit.edu	37	5	158630643	158630643	+	5'UTR	SNP	T	T	C			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr5:158630643T>C	ENST00000424310.2	-	0	342				RNF145_ENST00000518802.1_Missense_Mutation_p.K25E|RNF145_ENST00000521606.2_Missense_Mutation_p.K12E|RNF145_ENST00000520638.1_Missense_Mutation_p.K9E|RNF145_ENST00000274542.2_Missense_Mutation_p.K23E|RNF145_ENST00000519865.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttttttttctttttttttttc	0.363																																						ENST00000274542.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(67-69)Aag>Gag		ring finger protein 145							31.0	34.0	33.0					5																	158630643		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830					integral to membrane	zinc ion binding	g.chr5:158630643T>C	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-18A>G	5.37:g.158630643T>C						RNF145_ENST00000518802.1_Missense_Mutation_p.K25E|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.K12E|RNF145_ENST00000520638.1_Missense_Mutation_p.K9E|RNF145_ENST00000424310.2_5'UTR	p.K23E	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	93	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	0					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.67A>G	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	5.631	0.301084	0.10678	.	.	ENSG00000145860	ENST00000274542;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000520638	T;T;T;T;T	0.77098	-1.06;-1.04;-1.04;-1.07;-1.03	2.6	1.39	0.22231	.	6.604780	0.00166	N	0.000010	T	0.60663	0.2286	N	0.08118	0	0.09310	N	0.999998	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.001;0.001	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.001	T	0.51553	-0.8691	10	0.54805	T	0.06	.	4.5107	0.11910	0.0:0.1769:0.0:0.8231	.	11;12;9;25;23	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1-2	.;.;.;.;.	E	23;11;12;25;9	ENSP00000274542:K23E;ENSP00000430753:K11E;ENSP00000445115:K12E;ENSP00000430955:K25E;ENSP00000429071:K9E	ENSP00000274542:K23E	K	-	1	0	RNF145	158563221	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.077000	0.14738	0.083000	0.17047	0.397000	0.26171	AAG		0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		3	44	0	0	0	1	0	3	44				
SYT10	341359	broad.mit.edu	37	12	33529773	33529773	+	Missense_Mutation	SNP	T	T	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr12:33529773T>A	ENST00000228567.3	-	7	1860	c.1564A>T	c.(1564-1566)Aca>Tca	p.T522S	SYT10_ENST00000535526.1_Missense_Mutation_p.T341S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	522					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CATTATGGTGTGGAAGGTGGT	0.408																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1564-1566)Aca>Tca		synaptotagmin X							139.0	136.0	137.0					12																	33529773		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33529773T>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1564A>T	12.37:g.33529773T>A	ENSP00000228567:p.Thr522Ser					SYT10_ENST00000535526.1_Missense_Mutation_p.T341S	p.T522S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			7	1860	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		522					Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1564A>T	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196238	0.38806	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.48201	0.98;0.82	4.73	4.73	0.59995	.	0.178982	0.25762	U	0.028470	T	0.30417	0.0764	N	0.20530	0.585	0.46458	D	0.999058	B	0.15473	0.013	B	0.08055	0.003	T	0.10222	-1.0639	10	0.08837	T	0.75	.	14.1138	0.65139	0.0:0.0:0.0:1.0	.	522	Q6XYQ8	SYT10_HUMAN	S	522;341	ENSP00000228567:T522S;ENSP00000438691:T341S	ENSP00000228567:T522S	T	-	1	0	SYT10	33421040	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.614000	0.67695	2.054000	0.61138	0.533000	0.62120	ACA		0.408	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		3	40	0	0	0	1	0	3	40				
DYSF	8291	broad.mit.edu	37	2	71783123	71783123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr2:71783123delC	ENST00000258104.3	+	22	2361	c.2084delC	c.(2083-2085)gccfs	p.A695fs	DYSF_ENST00000410041.1_Frame_Shift_Del_p.A713fs|DYSF_ENST00000409744.1_Frame_Shift_Del_p.A682fs|DYSF_ENST00000413539.2_Frame_Shift_Del_p.A726fs|DYSF_ENST00000409366.1_Frame_Shift_Del_p.A696fs|DYSF_ENST00000394120.2_Frame_Shift_Del_p.A696fs|DYSF_ENST00000409651.1_Frame_Shift_Del_p.A727fs|DYSF_ENST00000409762.1_Frame_Shift_Del_p.A712fs|DYSF_ENST00000409582.3_Frame_Shift_Del_p.A712fs|DYSF_ENST00000410020.3_Frame_Shift_Del_p.A713fs|DYSF_ENST00000429174.2_Frame_Shift_Del_p.A695fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	695					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTCCACCTGGCCCTGAAGGCG	0.667																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(2083-2085)gcfs		dysferlin							30.0	25.0	26.0					2																	71783123		2190	4287	6477	SO:0001589	frameshift_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71783123delC	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2084delC	2.37:g.71783123delC	ENSP00000258104:p.Ala695fs					DYSF_ENST00000410020.3_Frame_Shift_Del_p.A713fs|DYSF_ENST00000409582.3_Frame_Shift_Del_p.A712fs|DYSF_ENST00000429174.2_Frame_Shift_Del_p.A695fs|DYSF_ENST00000410041.1_Frame_Shift_Del_p.A713fs|DYSF_ENST00000409366.1_Frame_Shift_Del_p.A696fs|DYSF_ENST00000394120.2_Frame_Shift_Del_p.A696fs|DYSF_ENST00000409744.1_Frame_Shift_Del_p.A682fs|DYSF_ENST00000409762.1_Frame_Shift_Del_p.A712fs|DYSF_ENST00000409651.1_Frame_Shift_Del_p.A727fs|DYSF_ENST00000413539.2_Frame_Shift_Del_p.A726fs	p.A695fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			22	2361	+			695					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Frame_Shift_Del	DEL	ENST00000258104.3	37	c.2084delC	CCDS1918.1																																																																																				0.667	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		2	4						2	4	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128393477	128393477	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr2:128393477delA	ENST00000409816.2	+	42	5955	c.5923delA	c.(5923-5925)aaafs	p.K1976fs	MYO7B_ENST00000428314.1_Frame_Shift_Del_p.K1976fs|MYO7B_ENST00000409090.1_Frame_Shift_Del_p.K829fs|LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000389524.4_Frame_Shift_Del_p.K1977fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1976	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGGAGTGGAAAAAGGTCCC	0.617																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(5926-5928)aafs		myosin VIIB							37.0	42.0	41.0					2																	128393477		2073	4184	6257	SO:0001589	frameshift_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128393477delA		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5923delA	2.37:g.128393477delA	ENSP00000386461:p.Lys1976fs					MYO7B_ENST00000409090.1_Frame_Shift_Del_p.K829fs|MYO7B_ENST00000428314.1_Frame_Shift_Del_p.K1976fs|MYO7B_ENST00000409816.2_Frame_Shift_Del_p.K1976fs	p.K1977fs			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	43	5979	+	Colorectal(110;0.1)		1976			FERM 2.		Q14786|Q8TEE1	Frame_Shift_Del	DEL	ENST00000409816.2	37	c.5926delA	CCDS46405.1																																																																																				0.617	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		2	4						2	4	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723322	49723327	+	IGR	DEL	GCGCTG	GCGCTG	-			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr3:49723322_49723327delGCGCTG	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_In_Frame_Del_p.QR406del|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1216-1221)del		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723322_49723327delGCGCTG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723322_49723327delGCGCTG						MST1_ENST00000383728.3_3'UTR	p.QR406del	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1577_1582	-			392			Kringle 4.		Q9BQ33|Q9P0Y2	In_Frame_Del	DEL	ENST00000296456.5	37	c.1216_1221delCAGCGC	CCDS2801.1																																																																																				0.704	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			8	159						8	159	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-	rs376935907		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr7:65150816delA	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCC	0.463																																						ENST00000430126.2																			0																																																			0							g.chr7:65150816delA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150816delA														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.463	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		4	9						4	9	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300803	74300804	+	RNA	INS	-	-	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr7:74300803_74300804insA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TCTTCATACTTAAAAAAAAAAA	0.455																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														0					nucleus	binding	g.chr7:74300803_74300804insA			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300814_74300814dupA										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	INS	ENST00000423186.1	37																																																																																						0.455	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		2	4						2	4	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)ttfs		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			,,	4,21,4229		0,0,4,1,19,2103	46.0	51.0	49.0		,,	2.4	0.0	13		49	5,25,8188		0,1,4,4,16,4084	no	codingComplex,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	0,1,8,5,35,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3651,0.5877,0.441	,,	,,	20041394	9,46,12417	2200	4283	6483	SO:0001589	frameshift_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041394delA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.483delT	13.37:g.20041394delA	ENSP00000383089:p.Phe161fs					TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron	p.F161fs			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	527	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	161					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Del	DEL	ENST00000400230.2	37	c.483delT	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		7	79						7	79	---	---	---	---
