#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
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1134	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3400-3402)ccC>ccT		nascent polypeptide-associated complex alpha subunit							61.0	59.0	60.0					12																	57111912		1261	2772	4033	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111912G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3402C>T	12.37:g.57111912G>A						NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	p.P1134P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3683	-			0						Silent	SNP	ENST00000454682.1	37	c.3402C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		3	58	0	0	0	1	0	3	58				
ANO4	121601	broad.mit.edu	37	12	101381393	101381393	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:101381393G>T	ENST00000392977.3	+	8	889	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.D192Y|ANO4_ENST00000538618.1_3'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	227					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GACACTGCCAGACCTGGAGGA	0.498										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(574-576)Gac>Tac		anoctamin 4							232.0	205.0	214.0					12																	101381393		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101381393G>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.679G>T	12.37:g.101381393G>T	ENSP00000376703:p.Asp227Tyr	HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1358	ANO4_ENST00000392977.3_Missense_Mutation_p.D227Y|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR	p.D192Y	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			7	935	+			227					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.574G>T		.	.	.	.	.	.	.	.	.	.	G	22.0	4.228162	0.79576	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.66995	-0.24;-0.24	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.74348	0.944;0.983	T	0.80652	-0.1287	10	0.34782	T	0.22	.	19.0483	0.93030	0.0:0.0:1.0:0.0	.	227;192	Q32M45;Q32M45-2	ANO4_HUMAN;.	Y	192;227	ENSP00000376705:D192Y;ENSP00000376703:D227Y	ENSP00000376703:D227Y	D	+	1	0	ANO4	99905524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.593000	0.98250	2.495000	0.84180	0.655000	0.94253	GAC		0.498	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		24	151	1	0	4.16121e-05	1	4.6656e-05	24	151				
DPYD	1806	broad.mit.edu	37	1	97564055	97564055	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:97564055G>A	ENST00000370192.3	-	21	2856	c.2756C>T	c.(2755-2757)cCt>cTt	p.P919L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	919					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CTTGATGGTAGGAATAGGCCT	0.299																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2755-2757)cCt>cTt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						149.0	158.0	155.0					1																	97564055		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97564055G>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2756C>T	1.37:g.97564055G>A	ENSP00000359211:p.Pro919Leu					DPYD-AS1_ENST00000422980.1_RNA	p.P919L	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	21	2856	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	919					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2756C>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799760	0.31869	.	.	ENSG00000188641	ENST00000370192	D	0.90069	-2.61	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.82107	0.4965	L	0.46614	1.455	0.80722	D	1	P	0.39311	0.667	B	0.41236	0.351	T	0.82621	-0.0367	10	0.42905	T	0.14	-16.4842	12.6023	0.56504	0.0763:0.0:0.9237:0.0	.	919	Q12882	DPYD_HUMAN	L	919	ENSP00000359211:P919L	ENSP00000359211:P919L	P	-	2	0	DPYD	97336643	1.000000	0.71417	0.626000	0.29213	0.169000	0.22640	5.046000	0.64226	2.833000	0.97629	0.591000	0.81541	CCT		0.299	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		3	121	0	0	0	1	0	3	121				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	254	0	0	0	1	0	4	254				
TTN	7273	broad.mit.edu	37	2	179637910	179637910	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr2:179637910A>G	ENST00000591111.1	-	33	8005	c.7781T>C	c.(7780-7782)aTg>aCg	p.M2594T	TTN_ENST00000589042.1_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T|TTN_ENST00000342175.6_Missense_Mutation_p.M2548T|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12917					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTCATCATATTTAGAAC	0.313																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(7780-7782)aTg>aCg		titin							51.0	53.0	52.0					2																	179637910		2203	4298	6501	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179637910A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7781T>C	2.37:g.179637910A>G	ENSP00000465570:p.Met2594Thr					TTN_ENST00000342175.6_Missense_Mutation_p.M2548T|TTN_ENST00000591111.1_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T	p.M2594T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		33	8005	-			2328					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.7781T>C		.	.	.	.	.	.	.	.	.	.	A	12.83	2.056009	0.36277	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45736	0.1357	N	0.03999	-0.3	0.27366	N	0.955838	B;B;B;B;B	0.33637	0.028;0.028;0.028;0.01;0.42	B;B;B;B;B	0.25506	0.021;0.021;0.038;0.017;0.061	T	0.50600	-0.8809	9	0.87932	D	0	.	15.7741	0.78198	1.0:0.0:0.0:0.0	.	2548;2548;2548;2594;2594	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2594;2548;2548;2548;2548;2594	ENSP00000343764:M2594T;ENSP00000434586:M2548T;ENSP00000340554:M2548T;ENSP00000352154:M2548T;ENSP00000354117:M2594T	ENSP00000340554:M2548T	M	-	2	0	TTN	179346155	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.765000	0.68834	2.134000	0.65973	0.528000	0.53228	ATG		0.313	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	54	0	0	0	1	0	5	54				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			5	73	0	0	0	1	0	5	73				
MAEA	10296	broad.mit.edu	37	4	1316275	1316275	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr4:1316275G>A	ENST00000303400.4	+	4	626	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MAEA_ENST00000505177.2_Missense_Mutation_p.R188Q|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000505839.1_Missense_Mutation_p.R140Q|MAEA_ENST00000510794.1_Missense_Mutation_p.R187Q|MAEA_ENST00000452175.2_Missense_Mutation_p.R109Q|MAEA_ENST00000264750.6_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	188	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AACAAGTCCCGGCTCCGGAAG	0.652																																						ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(562-564)cGg>cAg		macrophage erythroblast attacher							58.0	58.0	58.0					4																	1316275		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1316275G>A	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.563G>A	4.37:g.1316275G>A	ENSP00000302830:p.Arg188Gln					MAEA_ENST00000505839.1_Missense_Mutation_p.R140Q|MAEA_ENST00000505177.2_Missense_Mutation_p.R188Q|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.R187Q|MAEA_ENST00000452175.2_Missense_Mutation_p.R109Q	p.R188Q	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		4	626	+			188			CTLH.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.563G>A	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	37	6.363749	0.97507	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000510794;ENST00000505839	T;T;T;T;T;T	0.50001	0.9;0.83;0.76;0.91;0.93;0.9	5.94	5.94	0.96194	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	L	0.49571	1.57	0.80722	D	1	D;D;P	0.76494	0.999;0.991;0.91	D;D;P	0.65573	0.909;0.936;0.641	T	0.51164	-0.8740	10	0.19590	T	0.45	-39.8738	20.3544	0.98835	0.0:0.0:1.0:0.0	.	187;188;188	B4DVN3;E7ESC7;Q7L5Y9	.;.;MAEA_HUMAN	Q	188;188;188;167;120;109;187;140	ENSP00000302830:R188Q;ENSP00000422215:R188Q;ENSP00000421644:R188Q;ENSP00000426903:R120Q;ENSP00000411415:R109Q;ENSP00000426807:R187Q	ENSP00000302830:R188Q	R	+	2	0	MAEA	1306275	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.298000	0.96132	2.817000	0.96982	0.655000	0.94253	CGG		0.652	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		3	80	0	0	0	1	0	3	80				
ZNF616	90317	broad.mit.edu	37	19	52618945	52618945	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:52618945T>C	ENST00000600228.1	-	4	1733	c.1472A>G	c.(1471-1473)aAa>aGa	p.K491R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTGTAAGGTTTCTCTCCAGT	0.403																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1471-1473)aAa>aGa		zinc finger protein 616							105.0	98.0	101.0					19																	52618945		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618945T>C	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1472A>G	19.37:g.52618945T>C	ENSP00000471000:p.Lys491Arg					ZNF616_ENST00000330123.5_3'UTR	p.K491R	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1733	-			491					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1472A>G	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845472	0.71603	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	0.0163	0.14107	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27134	0.0665	N	0.20807	0.61	0.23632	N	0.997241	P	0.49696	0.927	P	0.49192	0.602	T	0.13361	-1.0512	8	0.56958	D	0.05	.	5.2795	0.15668	0.0:0.1841:0.0:0.8159	.	491	Q08AN1	ZN616_HUMAN	R	491	.	ENSP00000328722:K491R	K	-	2	0	ZNF616	57310757	0.000000	0.05858	0.011000	0.14972	0.895000	0.52256	-0.230000	0.09083	-0.055000	0.13244	0.254000	0.18369	AAA		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		3	105	0	0	0	1	0	3	105				
STK32C	282974	broad.mit.edu	37	10	134040390	134040390	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:134040390T>C	ENST00000368622.1	-	4	583	c.202A>G	c.(202-204)Aac>Gac	p.N68D	STK32C_ENST00000368625.4_Missense_Mutation_p.N198D					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AACTGCACGTTCTGCTGCAGG	0.612																																						ENST00000368622.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23						c.(202-204)Aac>Gac		serine/threonine kinase 32C							177.0	116.0	137.0					10																	134040390		2203	4300	6503	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134040390T>C	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.202A>G	10.37:g.134040390T>C	ENSP00000357611:p.Asn68Asp					STK32C_ENST00000368625.4_Missense_Mutation_p.N198D	p.N68D			Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	4	583	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	185						Missense_Mutation	SNP	ENST00000368622.1	37	c.202A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.72|16.72	3.202676|3.202676	0.58234|0.58234	.|.	.|.	ENSG00000165752|ENSG00000165752	ENST00000368620|ENST00000368622;ENST00000298630;ENST00000368625	.|T;T;T	.|0.65916	.|-0.18;-0.18;-0.18	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.084903	.|0.47852	.|D	.|0.000215	T|T	0.67720|0.67720	0.2923|0.2923	L|L	0.31371|0.31371	0.925|0.925	0.42359|0.42359	D|D	0.992405|0.992405	.|D;B;B	.|0.65815	.|0.995;0.009;0.021	.|D;B;B	.|0.70487	.|0.969;0.029;0.06	T|T	0.68337|0.68337	-0.5435|-0.5435	6|10	0.87932|0.39692	D|T	0|0.17	.|.	14.2798|14.2798	0.66202|0.66202	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|198;124;185	.|B7Z7J1;F2Z300;Q86UX6	.|.;.;ST32C_HUMAN	G|D	255|68;185;198	.|ENSP00000357611:N68D;ENSP00000298630:N185D;ENSP00000357614:N198D	ENSP00000357609:E255G|ENSP00000298630:N185D	E|N	-|-	2|1	0|0	STK32C|STK32C	133890380|133890380	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.918000|0.918000	0.54935|0.54935	5.673000|5.673000	0.68109|0.68109	1.790000|1.790000	0.52503|0.52503	0.378000|0.378000	0.23410|0.23410	GAA|AAC		0.612	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		7	65	0	0	0	1	0	7	65				
MAN1A1	4121	broad.mit.edu	37	6	119611907	119611907	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:119611907C>T	ENST00000368468.3	-	5	1279	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.E303K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	280					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATATTTACTTCAAAGACAGAA	0.299																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(838-840)Gaa>Aaa		mannosidase, alpha, class 1A, member 1							73.0	76.0	75.0					6																	119611907		2203	4295	6498	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119611907C>T	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.838G>A	6.37:g.119611907C>T	ENSP00000357453:p.Glu280Lys					MAN1A1_ENST00000368466.2_Missense_Mutation_p.E303K	p.E280K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	5	1279	-		all_epithelial(87;0.173)	280					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.838G>A	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	34	5.351964	0.95830	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	D;D	0.85171	-1.95;-1.95	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97279	0.9916	9	.	.	.	-33.3309	19.3531	0.94398	0.0:1.0:0.0:0.0	.	303;280	Q6P052;P33908	.;MA1A1_HUMAN	K	280;303	ENSP00000357453:E280K;ENSP00000357451:E303K	.	E	-	1	0	MAN1A1	119653606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.243000	0.72384	2.941000	0.99782	0.655000	0.94253	GAA		0.299	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		9	68	0	0	0	1	0	9	68				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	118	0	0	0	1	0	4	118				
RAI1	10743	broad.mit.edu	37	17	17697096	17697096	+	Missense_Mutation	SNP	G	G	C	rs113303801|rs398124422|rs371983878|rs571229335|rs587780431	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:17697096G>C	ENST00000353383.1	+	3	1303	c.834G>C	c.(832-834)caG>caC	p.Q278H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	278	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTATGACcagcagcagcagc	0.637																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(832-834)caG>caC		retinoic acid induced 1							18.0	23.0	22.0					17																	17697096		2081	4107	6188	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697096G>C	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.834G>C	17.37:g.17697096G>C	ENSP00000323074:p.Gln278His					RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1303	+			278			Gln-rich.|Poly-Gln.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.834G>C	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	g	0.076	-1.192861	0.01607	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69806	-0.43;1.41;0.17	4.53	-9.06	0.00727	.	0.597522	0.15390	N	0.264894	T	0.43743	0.1261	L	0.39898	1.24	0.18873	N	0.999987	P	0.37864	0.61	B	0.37198	0.243	T	0.31392	-0.9945	10	0.35671	T	0.21	.	4.0515	0.09798	0.4386:0.1326:0.3468:0.0819	.	278	Q7Z5J4	RAI1_HUMAN	H	278;278;278;278;278;255	ENSP00000323074:Q278H;ENSP00000379120:Q278H;ENSP00000261641:Q278H	ENSP00000261641:Q278H	Q	+	3	2	RAI1	17637821	0.953000	0.32496	0.000000	0.03702	0.311000	0.27955	0.063000	0.14410	-2.722000	0.00388	-1.461000	0.01025	CAG		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		3	40	0	0	0	1	0	3	40				
SYMPK	8189	broad.mit.edu	37	19	46334800	46334800	+	Silent	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:46334800C>T	ENST00000245934.7	-	12	1684	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	480					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCTTCACCACCTTCTCCTCCT	0.622																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1438-1440)aaG>aaA		symplekin							113.0	94.0	100.0					19																	46334800		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46334800C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1440G>A	19.37:g.46334800C>T							p.K480K	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	12	1684	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	480					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.1440G>A	CCDS12676.2																																																																																				0.622	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		3	17	0	0	0	1	0	3	17				
PTPRA	5786	broad.mit.edu	37	20	3005196	3005196	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:3005196G>A	ENST00000216877.6	+	16	1916	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	515					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACCTCTCTAGAAACCCACCT	0.433																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1516-1518)Gaa>Aaa		protein tyrosine phosphatase, receptor type, A							141.0	141.0	141.0					20																	3005196		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3005196G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1516G>A	20.37:g.3005196G>A	ENSP00000216877:p.Glu506Lys					PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K	p.E506K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			16	1916	+			515					A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1516G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	35	5.442869	0.96187	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	6.04	6.04	0.98038	.	0.057775	0.64402	U	0.000002	T	0.33323	0.0859	M	0.79926	2.475	0.80722	D	1	B;B;D	0.54772	0.022;0.189;0.968	B;B;P	0.56700	0.014;0.081;0.804	T	0.00814	-1.1555	10	0.48119	T	0.1	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	526;515;506	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	K	515;506;515;371;125;526;506;506	ENSP00000369756:E515K;ENSP00000216877:E506K;ENSP00000382787:E515K;ENSP00000351559:E371K;ENSP00000393553:E526K;ENSP00000314568:E506K;ENSP00000348468:E506K	ENSP00000216877:E506K	E	+	1	0	PTPRA	2953196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GAA		0.433	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			15	116	0	0	0	1	0	15	116				
TNFRSF10B	8795	broad.mit.edu	37	8	22880193	22880193	+	Silent	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr8:22880193G>T	ENST00000276431.4	-	9	1598	c.1314C>A	c.(1312-1314)gcC>gcA	p.A438A	TNFRSF10B_ENST00000542226.1_Silent_p.A258A|TNFRSF10B_ENST00000347739.3_Silent_p.A409A	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	438					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTTAGGACATGGCAGAGTCTG	0.478																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(1312-1314)gcC>gcA		tumor necrosis factor receptor superfamily, member 10b							84.0	80.0	81.0					8																	22880193		2203	4300	6503	SO:0001819	synonymous_variant	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22880193G>T	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.1314C>A	8.37:g.22880193G>T						TNFRSF10B_ENST00000347739.3_Silent_p.A409A|TNFRSF10B_ENST00000542226.1_Silent_p.A258A	p.A438A	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	9	1598	-		Prostate(55;0.0421)|Breast(100;0.067)	438					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Silent	SNP	ENST00000276431.4	37	c.1314C>A	CCDS6035.1																																																																																				0.478	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		3	41	1	0	1	1	1	3	41				
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)caG>caC		methylphosphate capping enzyme							99.0	109.0	105.0					7																	100028454		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028454G>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.813G>C	7.37:g.100028454G>C	ENSP00000308546:p.Gln271His					MEPCE_ENST00000414441.1_5'UTR	p.Q271H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		271					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.813G>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840902	0.51057	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.62	2.81	0.32909	.	0.175162	0.36703	N	0.002459	T	0.22820	0.0551	N	0.22421	0.69	0.30375	N	0.782541	B	0.21225	0.053	B	0.14023	0.01	T	0.11470	-1.0586	9	0.24483	T	0.36	-0.6486	4.5225	0.11966	0.2002:0.1847:0.6151:0.0	.	271	Q7L2J0	MEPCE_HUMAN	H	271	.	ENSP00000308546:Q271H	Q	+	3	2	MEPCE	99866390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.904000	0.48719	0.565000	0.29255	0.462000	0.41574	CAG		0.647	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			4	221	0	0	0	1	0	4	221				
PTPRZ1	5803	broad.mit.edu	37	7	121651647	121651647	+	Silent	SNP	C	C	T	rs147331896		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:121651647C>T	ENST00000393386.2	+	12	2958	c.2547C>T	c.(2545-2547)acC>acT	p.T849T	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	849					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTCAGCTACCGAGAGTGATA	0.478																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2545-2547)acC>acT		protein tyrosine phosphatase, receptor-type, Z polypeptide 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	139.0	128.0	132.0		,,2547	2.0	0.6	7	dbSNP_134	132	0,8600		0,0,4300	no	intron,intron,coding-synonymous	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,849/2316	121651647	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651647C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2547C>T	7.37:g.121651647C>T						PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.T849T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2958	+			849					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.2547C>T	CCDS34740.1																																																																																				0.478	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		16	109	0	0	0	1	0	16	109				
TBC1D2B	23102	broad.mit.edu	37	15	78317633	78317633	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr15:78317633C>T	ENST00000300584.3	-	5	1053	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.E352K	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	352							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTTAACTGTTCCAGCTCTTCC	0.547																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1054-1056)Gaa>Aaa		TBC1 domain family, member 2B							108.0	93.0	98.0					15																	78317633		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78317633C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1054G>A	15.37:g.78317633C>T	ENSP00000300584:p.Glu352Lys					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.E352K	p.E352K			Q9UPU7	TBD2B_HUMAN			5	1125	-			352					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.1054G>A	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.01|14.01	2.406488|2.406488	0.42715|0.42715	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584;ENST00000435468|ENST00000418039	T;T|.	0.08546|.	3.08;3.09|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.651407|.	0.16510|.	N|.	0.211292|.	T|.	0.76543|.	0.4002|.	M|M	0.75447|0.75447	2.3|2.3	0.40081|0.40081	D|D	0.97613|0.97613	P;P|.	0.41848|.	0.763;0.651|.	B;B|.	0.36608|.	0.229;0.115|.	T|.	0.77027|.	-0.2740|.	10|.	0.30078|.	T|.	0.28|.	.|.	18.3095|18.3095	0.90194|0.90194	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	352;352|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	K|X	352;352;240|233	ENSP00000387165:E352K;ENSP00000300584:E352K|.	ENSP00000300584:E352K|.	E|W	-|-	1|3	0|0	TBC1D2B|TBC1D2B	76104688|76104688	0.999000|0.999000	0.42202|0.42202	0.982000|0.982000	0.44146|0.44146	0.572000|0.572000	0.35998|0.35998	3.795000|3.795000	0.55499|0.55499	2.556000|2.556000	0.86216|0.86216	0.555000|0.555000	0.69702|0.69702	GAA|TGG		0.547	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		9	76	0	0	0	1	0	9	76				
FAM188A	80013	broad.mit.edu	37	10	15879270	15879270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:15879270T>C	ENST00000277632.3	-	6	729	c.509A>G	c.(508-510)gAc>gGc	p.D170G	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	170					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGAATACTGGTCCAAGACAGC	0.333																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000277632.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(508-510)gAc>gGc		family with sequence similarity 188, member A							161.0	164.0	163.0					10																	15879270		2203	4299	6502	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15879270T>C	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.509A>G	10.37:g.15879270T>C	ENSP00000277632:p.Asp170Gly					FAM188A_ENST00000477891.1_5'UTR	p.D170G	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN			6	729	-			170					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.509A>G	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661075	0.47572	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	T;T;T	0.30714	1.52;1.52;1.52	5.64	5.64	0.86602	.	0.140151	0.64402	D	0.000004	T	0.25494	0.0620	N	0.21194	0.64	0.80722	D	1	B	0.20164	0.042	B	0.29077	0.098	T	0.05305	-1.0893	10	0.28530	T	0.3	-15.6662	15.8556	0.78975	0.0:0.0:0.0:1.0	.	170	Q9H8M7	F188A_HUMAN	G	170;10;23	ENSP00000277632:D170G;ENSP00000388661:D10G;ENSP00000389883:D23G	ENSP00000277632:D170G	D	-	2	0	FAM188A	15919276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.347000	0.65998	2.133000	0.65898	0.482000	0.46254	GAC		0.333	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		3	174	0	0	0	1	0	3	174				
PTPRO	5800	broad.mit.edu	37	12	15742395	15742395	+	Silent	SNP	C	C	T	rs370164792		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:15742395C>T	ENST00000281171.4	+	25	3747	c.3417C>T	c.(3415-3417)ggC>ggT	p.G1139G	PTPRO_ENST00000348962.2_Silent_p.G1111G|PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000542557.1_Silent_p.G300G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000445537.2_Silent_p.G328G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1139	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCAGTGCTGGCGTGGGACGGA	0.453																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3415-3417)ggC>ggT		protein tyrosine phosphatase, receptor type, O		T	,,,,,	1,4405	2.1+/-5.4	0,1,2202	191.0	176.0	181.0		3333,3417,900,984,900,984	-10.2	0.0	12		181	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRO	NM_002848.3,NM_030667.2,NM_030668.2,NM_030669.2,NM_030670.2,NM_030671.2	,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	1111/1189,1139/1217,300/378,328/406,300/378,328/406	15742395	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742395C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3417C>T	12.37:g.15742395C>T						PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000445537.2_Silent_p.G328G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000542557.1_Silent_p.G300G|PTPRO_ENST00000348962.2_Silent_p.G1111G	p.G1139G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			25	3747	+		Hepatocellular(102;0.244)	1139			Substrate binding (By similarity).|Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.3417C>T	CCDS8675.1																																																																																				0.453	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			7	160	0	0	0	1	0	7	160				
FIBCD1	84929	broad.mit.edu	37	9	133779562	133779562	+	Silent	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr9:133779562G>A	ENST00000372338.4	-	7	1517	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.R425R|FIBCD1_ENST00000372337.2_Silent_p.R267R	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	425	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTGCGCACCGCGCAGGTACT	0.627																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1273-1275)cgC>cgT		fibrinogen C domain containing 1							132.0	112.0	119.0					9																	133779562		2203	4300	6503	SO:0001819	synonymous_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133779562G>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1275C>T	9.37:g.133779562G>A						FIBCD1_ENST00000372337.2_Silent_p.R267R|FIBCD1_ENST00000448616.1_Silent_p.R425R|FIBCD1_ENST00000253018.4_Intron	p.R425R	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	7	1517	-	all_hematologic(7;0.0028)		425			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	c.1275C>T	CCDS6937.1																																																																																				0.627	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		21	88	0	0	0	1	0	21	88				
TRIM24	8805	broad.mit.edu	37	7	138145410	138145410	+	Silent	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:138145410G>A	ENST00000343526.4	+	1	332	c.117G>A	c.(115-117)ccG>ccA	p.P39P	TRIM24_ENST00000415680.2_Silent_p.P39P			O15164	TIF1A_HUMAN	tripartite motif containing 24	39					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGCAGGGCCCGGACTCGGAGC	0.766																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(115-117)ccG>ccA		tripartite motif containing 24							3.0	4.0	4.0					7																	138145410		1453	3300	4753	SO:0001819	synonymous_variant	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138145410G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.117G>A	7.37:g.138145410G>A						TRIM24_ENST00000415680.2_Silent_p.P39P	p.P39P			O15164	TIF1A_HUMAN			1	332	+			39					A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	c.117G>A	CCDS5847.1																																																																																				0.766	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		2	5	0	0	0	1	0	2	5				
MUC4	4585	broad.mit.edu	37	3	195509182	195509182	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:195509182G>T	ENST00000463781.3	-	2	9728	c.9269C>A	c.(9268-9270)cCt>cAt	p.P3090H	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3090H|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P3090H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGACAGGAAGAGGGGT	0.597																																						ENST00000463781.3																			1	Substitution - Missense(1)	p.P3090H(1)	kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(9268-9270)cCt>cAt		mucin 4, cell surface associated							14.0	11.0	12.0					3																	195509182		666	1550	2216	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195509182G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9269C>A	3.37:g.195509182G>T	ENSP00000417498:p.Pro3090His					MUC4_ENST00000475231.1_Missense_Mutation_p.P3090H|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.P3090H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	9728	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	831					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.9269C>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.179	-1.064045	0.01934	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34072	1.38;1.39	.	.	.	.	.	.	.	.	T	0.30008	0.0751	N	0.19112	0.55	0.22017	N	0.99942	D	0.54964	0.969	P	0.52710	0.707	T	0.12785	-1.0534	7	.	.	.	.	6.7489	0.23475	3.0E-4:0.0:0.9997:0.0	.	2962	E7ESK3	.	H	3090	ENSP00000417498:P3090H;ENSP00000420243:P3090H	.	P	-	2	0	MUC4	196993961	0.145000	0.22656	0.007000	0.13788	0.000000	0.00434	1.993000	0.40747	0.497000	0.27926	0.000000	0.15137	CCT		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	6	1	0	0.150653	1	0.159262	4	6				
GBF1	8729	broad.mit.edu	37	10	104136749	104136749	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:104136749G>A	ENST00000369983.3	+	33	4603	c.4343G>A	c.(4342-4344)cGc>cAc	p.R1448H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1448					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAGGGAACCGCTTCAAGAAG	0.517																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(4342-4344)cGc>cAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							123.0	117.0	119.0					10																	104136749		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136749G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4343G>A	10.37:g.104136749G>A	ENSP00000359000:p.Arg1448His						p.R1448H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	33	4603	+		Colorectal(252;0.0236)	1448					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4343G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077938	0.94000	.	.	ENSG00000107862	ENST00000369983	T	0.11385	2.78	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	M	0.62723	1.935	0.58432	D	0.999999	P;D;D	0.71674	0.645;0.998;0.998	B;P;P	0.59487	0.028;0.713;0.858	T	0.00795	-1.1563	10	0.54805	T	0.06	-12.7008	18.396	0.90499	0.0:0.0:1.0:0.0	.	1448;1448;1448	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1448	ENSP00000359000:R1448H	ENSP00000359000:R1448H	R	+	2	0	GBF1	104126739	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.180000	0.94867	2.564000	0.86499	0.561000	0.74099	CGC		0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			4	109	0	0	0	1	0	4	109				
ATP9A	10079	broad.mit.edu	37	20	50307319	50307319	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:50307319G>A	ENST00000338821.5	-	8	946	c.682C>T	c.(682-684)Cca>Tca	p.P228S	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	228					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAATATTTGGCTCTTCTGCG	0.463																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(682-684)Cca>Tca		ATPase, class II, type 9A							215.0	193.0	200.0					20																	50307319		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50307319G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.682C>T	20.37:g.50307319G>A	ENSP00000342481:p.Pro228Ser					ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.P228S	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			8	946	-			228					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.682C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169982	0.78452	.	.	ENSG00000054793	ENST00000338821	D	0.84873	-1.91	5.33	5.33	0.75918	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95254	0.8362	10	0.87932	D	0	-21.8008	19.0096	0.92868	0.0:0.0:1.0:0.0	.	228	O75110	ATP9A_HUMAN	S	228	ENSP00000342481:P228S	ENSP00000342481:P228S	P	-	1	0	ATP9A	49740726	1.000000	0.71417	0.970000	0.41538	0.407000	0.30961	9.448000	0.97600	2.487000	0.83934	0.561000	0.74099	CCA		0.463	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		6	155	0	0	0	1	0	6	155				
UCK2	7371	broad.mit.edu	37	1	165872479	165872479	+	Missense_Mutation	SNP	C	C	A	rs36009659	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:165872479C>A	ENST00000367879.4	+	5	863	c.560C>A	c.(559-561)aCg>aAg	p.T187K	UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.T37K|RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000470820.1_Missense_Mutation_p.T37K	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	187					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGTACATTACGTTCGTCAAG	0.383																																						ENST00000367879.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(559-561)aCg>aAg		uridine-cytidine kinase 2							253.0	216.0	228.0					1																	165872479		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165872479C>A	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.560C>A	1.37:g.165872479C>A	ENSP00000356853:p.Thr187Lys					UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	p.T187K	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN			5	863	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		187					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.560C>A	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	C	4.145	0.025302	0.08054	.	.	ENSG00000143179	ENST00000367879	.	.	.	4.83	2.98	0.34508	Phosphoribulokinase/uridine kinase (1);	0.048192	0.85682	D	0.000000	T	0.09555	0.0235	N	0.25144	0.715	0.58432	D	0.999997	B;B	0.25955	0.001;0.138	B;B	0.17722	0.011;0.019	T	0.20672	-1.0268	8	0.02654	T	1	-9.009	8.6162	0.33833	0.0:0.8158:0.0:0.1842	.	37;187	Q9BZX2-2;Q9BZX2	.;UCK2_HUMAN	K	187	.	ENSP00000356853:T187K	T	+	2	0	UCK2	164139103	0.966000	0.33281	0.009000	0.14445	0.864000	0.49448	2.291000	0.43540	0.652000	0.30806	0.655000	0.94253	ACG		0.383	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		3	120	1	0	1	1	1	3	120				
SUPT6H	6830	broad.mit.edu	37	17	27022376	27022376	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:27022376A>G	ENST00000314616.6	+	29	4064	c.3781A>G	c.(3781-3783)Atg>Gtg	p.M1261V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1261	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ctaGGTGGGAATGACTGTTCA	0.488																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3781-3783)Atg>Gtg		suppressor of Ty 6 homolog (S. cerevisiae)							95.0	70.0	79.0					17																	27022376		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27022376A>G	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3781A>G	17.37:g.27022376A>G	ENSP00000319104:p.Met1261Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V	p.M1261V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			29	4064	+	Lung NSC(42;0.00431)		1261			S1 motif.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3781A>G	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103089	0.76983	.	.	ENSG00000109111	ENST00000314616	T	0.40476	1.03	5.59	5.59	0.84812	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.070311	0.85682	D	0.000000	T	0.53883	0.1824	L	0.59912	1.85	0.80722	D	1	D	0.56521	0.976	P	0.54270	0.747	T	0.54330	-0.8310	10	0.46703	T	0.11	-20.9434	15.7706	0.78164	1.0:0.0:0.0:0.0	.	1261	Q7KZ85	SPT6H_HUMAN	V	1261	ENSP00000319104:M1261V	ENSP00000319104:M1261V	M	+	1	0	SUPT6H	24046503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.848000	0.92172	2.123000	0.65237	0.533000	0.62120	ATG		0.488	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		10	29	0	0	0	1	0	10	29				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	20	0	0	0	1	0	3	20				
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:46620496A>G	ENST00000330070.4	-	2	2172	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB2_ENST00000504772.3_5'UTR|HOXB-AS1_ENST00000508688.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	335					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P335P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587																																						ENST00000330070.4																			2	Substitution - coding silent(2)	p.P335P(2)	lung(2)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(1003-1005)ccT>ccC		homeobox B2							80.0	83.0	82.0					17																	46620496		2203	4300	6503	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620496A>G		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.1005T>C	17.37:g.46620496A>G						HOXB2_ENST00000504772.3_5'UTR	p.P335P	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			2	2172	-			335					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.1005T>C	CCDS11527.1																																																																																				0.587	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			4	144	0	0	0	1	0	4	144				
SCN2A	6326	broad.mit.edu	37	2	166229841	166229841	+	Missense_Mutation	SNP	G	G	A	rs121917753		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr2:166229841G>A	ENST00000375437.2	+	21	4246	c.3956G>A	c.(3955-3957)cGg>cAg	p.R1319Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1319Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1319Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1319Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1319			R -> Q (in BFIS3). {ECO:0000269|PubMed:15048894}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTTTGTCCCGGTTTGAAGGA	0.433																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118	GRCh37	CM040797	SCN2A	M	rs121917753	c.(3955-3957)cGg>cAg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						136.0	133.0	134.0					2																	166229841		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166229841G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3956G>A	2.37:g.166229841G>A	ENSP00000364586:p.Arg1319Gln					SCN2A_ENST00000357398.3_Missense_Mutation_p.R1319Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1319Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1319Q	p.R1319Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			21	4246	+			1319		R -> Q (in BFIC3).			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3956G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	36	5.675301	0.96764	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.64402	D	0.000007	D	0.99074	0.9682	M	0.72576	2.205	0.58432	A	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.915;0.998	D	0.99860	1.1082	9	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1319;1319	Q99250-2;Q99250	.;SCN2A_HUMAN	Q	1319	ENSP00000364586:R1319Q;ENSP00000349973:R1319Q;ENSP00000283256:R1319Q;ENSP00000364576:R1319Q	ENSP00000283256:R1319Q	R	+	2	0	SCN2A	165938087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGG		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		11	52	0	0	0	1	0	11	52				
USP15	9958	broad.mit.edu	37	12	62777707	62777707	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:62777707A>C	ENST00000280377.5	+	10	1234	c.1176A>C	c.(1174-1176)ttA>ttC	p.L392F	USP15_ENST00000353364.3_Missense_Mutation_p.L363F|USP15_ENST00000393654.3_Missense_Mutation_p.L367F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	392	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGATGGATTACATGAGGATT	0.368																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1174-1176)ttA>ttC		ubiquitin specific peptidase 15							92.0	89.0	90.0					12																	62777707		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777707A>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1176A>C	12.37:g.62777707A>C	ENSP00000280377:p.Leu392Phe					USP15_ENST00000353364.3_Missense_Mutation_p.L363F|USP15_ENST00000393654.3_Missense_Mutation_p.L367F	p.L392F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1234	+			392					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1176A>C	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.612750	0.66672	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.47528	3.36;3.36;0.84	5.4	2.99	0.34606	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.077209	0.52532	D	0.000069	T	0.69940	0.3167	M	0.89353	3.025	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71467	-0.4584	9	.	.	.	-7.9875	10.0164	0.42016	0.8616:0.0:0.1384:0.0	.	392;363	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	F	363;392;367	ENSP00000258123:L363F;ENSP00000280377:L392F;ENSP00000377264:L367F	.	L	+	3	2	USP15	61063974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.015000	0.29963	0.463000	0.27118	0.533000	0.62120	TTA		0.368	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		10	42	0	0	0	1	0	10	42				
NCOR1P1	149934	broad.mit.edu	37	20	26084296	26084296	+	RNA	SNP	A	A	G	rs61752037	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr20:26084296A>G	ENST00000478176.1	-	0	161					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1									p.F40F(1)									GTTTGCCTCCAAATGCTGGAT	0.378																																						ENST00000478176.1																			1	Substitution - coding silent(1)	p.F40F(1)	kidney(1)																	41.0	30.0	33.0					20																	26084296		692	1590	2282			0							g.chr20:26084296A>G	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084296A>G								NR_003678.1						0	161	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.378	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			3	47	0	0	0	1	0	3	47				
ANO4	121601	broad.mit.edu	37	12	101381393	101381393	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr12:101381393G>T	ENST00000392977.3	+	8	889	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.D192Y|ANO4_ENST00000538618.1_3'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	227					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GACACTGCCAGACCTGGAGGA	0.498										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(574-576)Gac>Tac		anoctamin 4							232.0	205.0	214.0					12																	101381393		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101381393G>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.679G>T	12.37:g.101381393G>T	ENSP00000376703:p.Asp227Tyr	HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1358	ANO4_ENST00000392977.3_Missense_Mutation_p.D227Y|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR	p.D192Y	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			7	935	+			227					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.574G>T		.	.	.	.	.	.	.	.	.	.	G	22.0	4.228162	0.79576	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.66995	-0.24;-0.24	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.74348	0.944;0.983	T	0.80652	-0.1287	10	0.34782	T	0.22	.	19.0483	0.93030	0.0:0.0:1.0:0.0	.	227;192	Q32M45;Q32M45-2	ANO4_HUMAN;.	Y	192;227	ENSP00000376705:D192Y;ENSP00000376703:D227Y	ENSP00000376703:D227Y	D	+	1	0	ANO4	99905524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.593000	0.98250	2.495000	0.84180	0.655000	0.94253	GAC		0.498	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		24	151	1	0	4.16121e-05	1	4.49861e-05	24	151				
DPYD	1806	broad.mit.edu	37	1	97564055	97564055	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr1:97564055G>A	ENST00000370192.3	-	21	2856	c.2756C>T	c.(2755-2757)cCt>cTt	p.P919L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	919					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CTTGATGGTAGGAATAGGCCT	0.299																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2755-2757)cCt>cTt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						149.0	158.0	155.0					1																	97564055		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97564055G>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2756C>T	1.37:g.97564055G>A	ENSP00000359211:p.Pro919Leu					DPYD-AS1_ENST00000422980.1_RNA	p.P919L	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	21	2856	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	919					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2756C>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799760	0.31869	.	.	ENSG00000188641	ENST00000370192	D	0.90069	-2.61	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.82107	0.4965	L	0.46614	1.455	0.80722	D	1	P	0.39311	0.667	B	0.41236	0.351	T	0.82621	-0.0367	10	0.42905	T	0.14	-16.4842	12.6023	0.56504	0.0763:0.0:0.9237:0.0	.	919	Q12882	DPYD_HUMAN	L	919	ENSP00000359211:P919L	ENSP00000359211:P919L	P	-	2	0	DPYD	97336643	1.000000	0.71417	0.626000	0.29213	0.169000	0.22640	5.046000	0.64226	2.833000	0.97629	0.591000	0.81541	CCT		0.299	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		3	121	0	0	0	1	0	3	121				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	254	0	0	0	1	0	4	254				
TTN	7273	broad.mit.edu	37	2	179637910	179637910	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr2:179637910A>G	ENST00000591111.1	-	33	8005	c.7781T>C	c.(7780-7782)aTg>aCg	p.M2594T	TTN_ENST00000589042.1_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T|TTN_ENST00000342175.6_Missense_Mutation_p.M2548T|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12917					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTCATCATATTTAGAAC	0.313																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(7780-7782)aTg>aCg		titin							51.0	53.0	52.0					2																	179637910		2203	4298	6501	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179637910A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7781T>C	2.37:g.179637910A>G	ENSP00000465570:p.Met2594Thr					TTN_ENST00000591111.1_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M2548T	p.M2594T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		33	8005	-			2328					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.7781T>C		.	.	.	.	.	.	.	.	.	.	A	12.83	2.056009	0.36277	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45736	0.1357	N	0.03999	-0.3	0.27366	N	0.955838	B;B;B;B;B	0.33637	0.028;0.028;0.028;0.01;0.42	B;B;B;B;B	0.25506	0.021;0.021;0.038;0.017;0.061	T	0.50600	-0.8809	9	0.87932	D	0	.	15.7741	0.78198	1.0:0.0:0.0:0.0	.	2548;2548;2548;2594;2594	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2594;2548;2548;2548;2548;2594	ENSP00000343764:M2594T;ENSP00000434586:M2548T;ENSP00000340554:M2548T;ENSP00000352154:M2548T;ENSP00000354117:M2594T	ENSP00000340554:M2548T	M	-	2	0	TTN	179346155	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.765000	0.68834	2.134000	0.65973	0.528000	0.53228	ATG		0.313	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	54	0	0	0	1	0	5	54				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			5	73	0	0	0	1	0	5	73				
MAEA	10296	broad.mit.edu	37	4	1316275	1316275	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr4:1316275G>A	ENST00000303400.4	+	4	626	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MAEA_ENST00000505177.2_Missense_Mutation_p.R188Q|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000505839.1_Missense_Mutation_p.R140Q|MAEA_ENST00000510794.1_Missense_Mutation_p.R187Q|MAEA_ENST00000452175.2_Missense_Mutation_p.R109Q|MAEA_ENST00000264750.6_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	188	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AACAAGTCCCGGCTCCGGAAG	0.652																																						ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(562-564)cGg>cAg		macrophage erythroblast attacher							58.0	58.0	58.0					4																	1316275		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1316275G>A	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.563G>A	4.37:g.1316275G>A	ENSP00000302830:p.Arg188Gln					MAEA_ENST00000505177.2_Missense_Mutation_p.R188Q|MAEA_ENST00000452175.2_Missense_Mutation_p.R109Q|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.R187Q|MAEA_ENST00000505839.1_Missense_Mutation_p.R140Q|MAEA_ENST00000514708.1_Intron	p.R188Q	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		4	626	+			188			CTLH.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.563G>A	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	37	6.363749	0.97507	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000510794;ENST00000505839	T;T;T;T;T;T	0.50001	0.9;0.83;0.76;0.91;0.93;0.9	5.94	5.94	0.96194	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	L	0.49571	1.57	0.80722	D	1	D;D;P	0.76494	0.999;0.991;0.91	D;D;P	0.65573	0.909;0.936;0.641	T	0.51164	-0.8740	10	0.19590	T	0.45	-39.8738	20.3544	0.98835	0.0:0.0:1.0:0.0	.	187;188;188	B4DVN3;E7ESC7;Q7L5Y9	.;.;MAEA_HUMAN	Q	188;188;188;167;120;109;187;140	ENSP00000302830:R188Q;ENSP00000422215:R188Q;ENSP00000421644:R188Q;ENSP00000426903:R120Q;ENSP00000411415:R109Q;ENSP00000426807:R187Q	ENSP00000302830:R188Q	R	+	2	0	MAEA	1306275	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.298000	0.96132	2.817000	0.96982	0.655000	0.94253	CGG		0.652	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		3	80	0	0	0	1	0	3	80				
ZNF616	90317	broad.mit.edu	37	19	52618945	52618945	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr19:52618945T>C	ENST00000600228.1	-	4	1733	c.1472A>G	c.(1471-1473)aAa>aGa	p.K491R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTGTAAGGTTTCTCTCCAGT	0.403																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1471-1473)aAa>aGa		zinc finger protein 616							105.0	98.0	101.0					19																	52618945		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618945T>C	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1472A>G	19.37:g.52618945T>C	ENSP00000471000:p.Lys491Arg					ZNF616_ENST00000330123.5_3'UTR	p.K491R	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1733	-			491					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1472A>G	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845472	0.71603	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	0.0163	0.14107	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27134	0.0665	N	0.20807	0.61	0.23632	N	0.997241	P	0.49696	0.927	P	0.49192	0.602	T	0.13361	-1.0512	8	0.56958	D	0.05	.	5.2795	0.15668	0.0:0.1841:0.0:0.8159	.	491	Q08AN1	ZN616_HUMAN	R	491	.	ENSP00000328722:K491R	K	-	2	0	ZNF616	57310757	0.000000	0.05858	0.011000	0.14972	0.895000	0.52256	-0.230000	0.09083	-0.055000	0.13244	0.254000	0.18369	AAA		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		3	105	0	0	0	1	0	3	105				
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T	rs376977769		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343																																						ENST00000558896.1																			0																																																			0							g.chr15:22332432C>T																													15.37:g.22332432C>T														0	239	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.343	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			5	41	0	0	0	1	0	5	41				
MAN1A1	4121	broad.mit.edu	37	6	119611907	119611907	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr6:119611907C>T	ENST00000368468.3	-	5	1279	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.E303K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	280					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATATTTACTTCAAAGACAGAA	0.299																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(838-840)Gaa>Aaa		mannosidase, alpha, class 1A, member 1							73.0	76.0	75.0					6																	119611907		2203	4295	6498	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119611907C>T	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.838G>A	6.37:g.119611907C>T	ENSP00000357453:p.Glu280Lys					MAN1A1_ENST00000368466.2_Missense_Mutation_p.E303K	p.E280K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	5	1279	-		all_epithelial(87;0.173)	280					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.838G>A	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	34	5.351964	0.95830	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	D;D	0.85171	-1.95;-1.95	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97279	0.9916	9	.	.	.	-33.3309	19.3531	0.94398	0.0:1.0:0.0:0.0	.	303;280	Q6P052;P33908	.;MA1A1_HUMAN	K	280;303	ENSP00000357453:E280K;ENSP00000357451:E303K	.	E	-	1	0	MAN1A1	119653606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.243000	0.72384	2.941000	0.99782	0.655000	0.94253	GAA		0.299	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		9	68	0	0	0	1	0	9	68				
RAI1	10743	broad.mit.edu	37	17	17697096	17697096	+	Missense_Mutation	SNP	G	G	C	rs113303801|rs398124422|rs371983878|rs571229335|rs587780431	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr17:17697096G>C	ENST00000353383.1	+	3	1303	c.834G>C	c.(832-834)caG>caC	p.Q278H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	278	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTATGACcagcagcagcagc	0.637																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(832-834)caG>caC		retinoic acid induced 1							18.0	23.0	22.0					17																	17697096		2081	4107	6188	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697096G>C	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.834G>C	17.37:g.17697096G>C	ENSP00000323074:p.Gln278His					RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1303	+			278			Gln-rich.|Poly-Gln.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.834G>C	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	g	0.076	-1.192861	0.01607	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69806	-0.43;1.41;0.17	4.53	-9.06	0.00727	.	0.597522	0.15390	N	0.264894	T	0.43743	0.1261	L	0.39898	1.24	0.18873	N	0.999987	P	0.37864	0.61	B	0.37198	0.243	T	0.31392	-0.9945	10	0.35671	T	0.21	.	4.0515	0.09798	0.4386:0.1326:0.3468:0.0819	.	278	Q7Z5J4	RAI1_HUMAN	H	278;278;278;278;278;255	ENSP00000323074:Q278H;ENSP00000379120:Q278H;ENSP00000261641:Q278H	ENSP00000261641:Q278H	Q	+	3	2	RAI1	17637821	0.953000	0.32496	0.000000	0.03702	0.311000	0.27955	0.063000	0.14410	-2.722000	0.00388	-1.461000	0.01025	CAG		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		3	40	0	0	0	1	0	3	40				
SYMPK	8189	broad.mit.edu	37	19	46334800	46334800	+	Silent	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr19:46334800C>T	ENST00000245934.7	-	12	1684	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	480					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCTTCACCACCTTCTCCTCCT	0.622																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1438-1440)aaG>aaA		symplekin							113.0	94.0	100.0					19																	46334800		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46334800C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1440G>A	19.37:g.46334800C>T							p.K480K	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	12	1684	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	480					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.1440G>A	CCDS12676.2																																																																																				0.622	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		3	17	0	0	0	1	0	3	17				
PTPRA	5786	broad.mit.edu	37	20	3005196	3005196	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr20:3005196G>A	ENST00000216877.6	+	16	1916	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	515					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACCTCTCTAGAAACCCACCT	0.433																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1516-1518)Gaa>Aaa		protein tyrosine phosphatase, receptor type, A							141.0	141.0	141.0					20																	3005196		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3005196G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1516G>A	20.37:g.3005196G>A	ENSP00000216877:p.Glu506Lys					PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K|PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K	p.E506K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			16	1916	+			515					A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1516G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	35	5.442869	0.96187	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	6.04	6.04	0.98038	.	0.057775	0.64402	U	0.000002	T	0.33323	0.0859	M	0.79926	2.475	0.80722	D	1	B;B;D	0.54772	0.022;0.189;0.968	B;B;P	0.56700	0.014;0.081;0.804	T	0.00814	-1.1555	10	0.48119	T	0.1	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	526;515;506	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	K	515;506;515;371;125;526;506;506	ENSP00000369756:E515K;ENSP00000216877:E506K;ENSP00000382787:E515K;ENSP00000351559:E371K;ENSP00000393553:E526K;ENSP00000314568:E506K;ENSP00000348468:E506K	ENSP00000216877:E506K	E	+	1	0	PTPRA	2953196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GAA		0.433	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			15	116	0	0	0	1	0	15	116				
KCNH7	90134	broad.mit.edu	37	2	163253255	163253255	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr2:163253255C>T	ENST00000332142.5	-	11	2707	c.2608G>A	c.(2608-2610)Gca>Aca	p.A870T		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	870					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TATACCTTTGCGCTCTCATGC	0.338																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2608-2610)Gca>Aca		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						60.0	58.0	59.0					2																	163253255		2202	4298	6500	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163253255C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2608G>A	2.37:g.163253255C>T	ENSP00000331727:p.Ala870Thr						p.A870T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			11	2707	-			870					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2608G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564419	0.27915	.	.	ENSG00000184611	ENST00000332142	D	0.98585	-5.01	5.43	4.5	0.54988	.	0.255147	0.38217	N	0.001763	D	0.91878	0.7429	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	D	0.86334	0.1700	10	0.15066	T	0.55	.	5.5586	0.17131	0.1283:0.5686:0.2271:0.076	.	870	Q9NS40	KCNH7_HUMAN	T	870	ENSP00000331727:A870T	ENSP00000331727:A870T	A	-	1	0	KCNH7	162961501	0.001000	0.12720	1.000000	0.80357	0.946000	0.59487	-0.035000	0.12205	2.561000	0.86390	0.585000	0.79938	GCA		0.338	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		4	33	0	0	0	1	0	4	33				
TNFRSF10B	8795	broad.mit.edu	37	8	22880193	22880193	+	Silent	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr8:22880193G>T	ENST00000276431.4	-	9	1598	c.1314C>A	c.(1312-1314)gcC>gcA	p.A438A	TNFRSF10B_ENST00000542226.1_Silent_p.A258A|TNFRSF10B_ENST00000347739.3_Silent_p.A409A	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	438					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTTAGGACATGGCAGAGTCTG	0.478																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(1312-1314)gcC>gcA		tumor necrosis factor receptor superfamily, member 10b							84.0	80.0	81.0					8																	22880193		2203	4300	6503	SO:0001819	synonymous_variant	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22880193G>T	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.1314C>A	8.37:g.22880193G>T						TNFRSF10B_ENST00000542226.1_Silent_p.A258A|TNFRSF10B_ENST00000347739.3_Silent_p.A409A	p.A438A	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	9	1598	-		Prostate(55;0.0421)|Breast(100;0.067)	438					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Silent	SNP	ENST00000276431.4	37	c.1314C>A	CCDS6035.1																																																																																				0.478	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		3	41	1	0	1	1	1	3	41				
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)caG>caC		methylphosphate capping enzyme							99.0	109.0	105.0					7																	100028454		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028454G>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.813G>C	7.37:g.100028454G>C	ENSP00000308546:p.Gln271His					MEPCE_ENST00000414441.1_5'UTR	p.Q271H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		271					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.813G>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840902	0.51057	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.62	2.81	0.32909	.	0.175162	0.36703	N	0.002459	T	0.22820	0.0551	N	0.22421	0.69	0.30375	N	0.782541	B	0.21225	0.053	B	0.14023	0.01	T	0.11470	-1.0586	9	0.24483	T	0.36	-0.6486	4.5225	0.11966	0.2002:0.1847:0.6151:0.0	.	271	Q7L2J0	MEPCE_HUMAN	H	271	.	ENSP00000308546:Q271H	Q	+	3	2	MEPCE	99866390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.904000	0.48719	0.565000	0.29255	0.462000	0.41574	CAG		0.647	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			4	221	0	0	0	1	0	4	221				
PTPRZ1	5803	broad.mit.edu	37	7	121651647	121651647	+	Silent	SNP	C	C	T	rs147331896		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr7:121651647C>T	ENST00000393386.2	+	12	2958	c.2547C>T	c.(2545-2547)acC>acT	p.T849T	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	849					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTCAGCTACCGAGAGTGATA	0.478																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2545-2547)acC>acT		protein tyrosine phosphatase, receptor-type, Z polypeptide 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	139.0	128.0	132.0		,,2547	2.0	0.6	7	dbSNP_134	132	0,8600		0,0,4300	no	intron,intron,coding-synonymous	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,849/2316	121651647	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651647C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2547C>T	7.37:g.121651647C>T						PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.T849T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2958	+			849					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.2547C>T	CCDS34740.1																																																																																				0.478	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		16	109	0	0	0	1	0	16	109				
TBC1D2B	23102	broad.mit.edu	37	15	78317633	78317633	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr15:78317633C>T	ENST00000300584.3	-	5	1053	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.E352K	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	352							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTTAACTGTTCCAGCTCTTCC	0.547																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1054-1056)Gaa>Aaa		TBC1 domain family, member 2B							108.0	93.0	98.0					15																	78317633		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78317633C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1054G>A	15.37:g.78317633C>T	ENSP00000300584:p.Glu352Lys					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.E352K	p.E352K			Q9UPU7	TBD2B_HUMAN			5	1125	-			352					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.1054G>A	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.01|14.01	2.406488|2.406488	0.42715|0.42715	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584;ENST00000435468|ENST00000418039	T;T|.	0.08546|.	3.08;3.09|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.651407|.	0.16510|.	N|.	0.211292|.	T|.	0.76543|.	0.4002|.	M|M	0.75447|0.75447	2.3|2.3	0.40081|0.40081	D|D	0.97613|0.97613	P;P|.	0.41848|.	0.763;0.651|.	B;B|.	0.36608|.	0.229;0.115|.	T|.	0.77027|.	-0.2740|.	10|.	0.30078|.	T|.	0.28|.	.|.	18.3095|18.3095	0.90194|0.90194	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	352;352|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	K|X	352;352;240|233	ENSP00000387165:E352K;ENSP00000300584:E352K|.	ENSP00000300584:E352K|.	E|W	-|-	1|3	0|0	TBC1D2B|TBC1D2B	76104688|76104688	0.999000|0.999000	0.42202|0.42202	0.982000|0.982000	0.44146|0.44146	0.572000|0.572000	0.35998|0.35998	3.795000|3.795000	0.55499|0.55499	2.556000|2.556000	0.86216|0.86216	0.555000|0.555000	0.69702|0.69702	GAA|TGG		0.547	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		9	76	0	0	0	1	0	9	76				
FAM188A	80013	broad.mit.edu	37	10	15879270	15879270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr10:15879270T>C	ENST00000277632.3	-	6	729	c.509A>G	c.(508-510)gAc>gGc	p.D170G	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	170					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGAATACTGGTCCAAGACAGC	0.333																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000277632.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(508-510)gAc>gGc		family with sequence similarity 188, member A							161.0	164.0	163.0					10																	15879270		2203	4299	6502	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15879270T>C	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.509A>G	10.37:g.15879270T>C	ENSP00000277632:p.Asp170Gly					FAM188A_ENST00000477891.1_5'UTR	p.D170G	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN			6	729	-			170					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.509A>G	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661075	0.47572	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	T;T;T	0.30714	1.52;1.52;1.52	5.64	5.64	0.86602	.	0.140151	0.64402	D	0.000004	T	0.25494	0.0620	N	0.21194	0.64	0.80722	D	1	B	0.20164	0.042	B	0.29077	0.098	T	0.05305	-1.0893	10	0.28530	T	0.3	-15.6662	15.8556	0.78975	0.0:0.0:0.0:1.0	.	170	Q9H8M7	F188A_HUMAN	G	170;10;23	ENSP00000277632:D170G;ENSP00000388661:D10G;ENSP00000389883:D23G	ENSP00000277632:D170G	D	-	2	0	FAM188A	15919276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.347000	0.65998	2.133000	0.65898	0.482000	0.46254	GAC		0.333	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		3	174	0	0	0	1	0	3	174				
PTPRO	5800	broad.mit.edu	37	12	15742395	15742395	+	Silent	SNP	C	C	T	rs370164792		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr12:15742395C>T	ENST00000281171.4	+	25	3747	c.3417C>T	c.(3415-3417)ggC>ggT	p.G1139G	PTPRO_ENST00000348962.2_Silent_p.G1111G|PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000542557.1_Silent_p.G300G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000445537.2_Silent_p.G328G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1139	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCAGTGCTGGCGTGGGACGGA	0.453																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3415-3417)ggC>ggT		protein tyrosine phosphatase, receptor type, O		T	,,,,,	1,4405	2.1+/-5.4	0,1,2202	191.0	176.0	181.0		3333,3417,900,984,900,984	-10.2	0.0	12		181	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRO	NM_002848.3,NM_030667.2,NM_030668.2,NM_030669.2,NM_030670.2,NM_030671.2	,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	1111/1189,1139/1217,300/378,328/406,300/378,328/406	15742395	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742395C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3417C>T	12.37:g.15742395C>T						PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000542557.1_Silent_p.G300G|PTPRO_ENST00000445537.2_Silent_p.G328G|PTPRO_ENST00000348962.2_Silent_p.G1111G	p.G1139G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			25	3747	+		Hepatocellular(102;0.244)	1139			Substrate binding (By similarity).|Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.3417C>T	CCDS8675.1																																																																																				0.453	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			7	160	0	0	0	1	0	7	160				
FIBCD1	84929	broad.mit.edu	37	9	133779562	133779562	+	Silent	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr9:133779562G>A	ENST00000372338.4	-	7	1517	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.R425R|FIBCD1_ENST00000372337.2_Silent_p.R267R	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	425	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTGCGCACCGCGCAGGTACT	0.627																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1273-1275)cgC>cgT		fibrinogen C domain containing 1							132.0	112.0	119.0					9																	133779562		2203	4300	6503	SO:0001819	synonymous_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133779562G>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1275C>T	9.37:g.133779562G>A						FIBCD1_ENST00000372337.2_Silent_p.R267R|FIBCD1_ENST00000448616.1_Silent_p.R425R|FIBCD1_ENST00000253018.4_Intron	p.R425R	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	7	1517	-	all_hematologic(7;0.0028)		425			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	c.1275C>T	CCDS6937.1																																																																																				0.627	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		21	88	0	0	0	1	0	21	88				
GBF1	8729	broad.mit.edu	37	10	104136749	104136749	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr10:104136749G>A	ENST00000369983.3	+	33	4603	c.4343G>A	c.(4342-4344)cGc>cAc	p.R1448H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1448					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAGGGAACCGCTTCAAGAAG	0.517																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(4342-4344)cGc>cAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							123.0	117.0	119.0					10																	104136749		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136749G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4343G>A	10.37:g.104136749G>A	ENSP00000359000:p.Arg1448His						p.R1448H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	33	4603	+		Colorectal(252;0.0236)	1448					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4343G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077938	0.94000	.	.	ENSG00000107862	ENST00000369983	T	0.11385	2.78	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	M	0.62723	1.935	0.58432	D	0.999999	P;D;D	0.71674	0.645;0.998;0.998	B;P;P	0.59487	0.028;0.713;0.858	T	0.00795	-1.1563	10	0.54805	T	0.06	-12.7008	18.396	0.90499	0.0:0.0:1.0:0.0	.	1448;1448;1448	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1448	ENSP00000359000:R1448H	ENSP00000359000:R1448H	R	+	2	0	GBF1	104126739	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.180000	0.94867	2.564000	0.86499	0.561000	0.74099	CGC		0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			4	109	0	0	0	1	0	4	109				
STK32C	282974	broad.mit.edu	37	10	134040390	134040390	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr10:134040390T>C	ENST00000368622.1	-	4	583	c.202A>G	c.(202-204)Aac>Gac	p.N68D	STK32C_ENST00000368625.4_Missense_Mutation_p.N198D					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AACTGCACGTTCTGCTGCAGG	0.612																																						ENST00000368622.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23						c.(202-204)Aac>Gac		serine/threonine kinase 32C							177.0	116.0	137.0					10																	134040390		2203	4300	6503	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134040390T>C	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.202A>G	10.37:g.134040390T>C	ENSP00000357611:p.Asn68Asp					STK32C_ENST00000368625.4_Missense_Mutation_p.N198D	p.N68D			Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	4	583	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	185						Missense_Mutation	SNP	ENST00000368622.1	37	c.202A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.72|16.72	3.202676|3.202676	0.58234|0.58234	.|.	.|.	ENSG00000165752|ENSG00000165752	ENST00000368620|ENST00000368622;ENST00000298630;ENST00000368625	.|T;T;T	.|0.65916	.|-0.18;-0.18;-0.18	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.084903	.|0.47852	.|D	.|0.000215	T|T	0.67720|0.67720	0.2923|0.2923	L|L	0.31371|0.31371	0.925|0.925	0.42359|0.42359	D|D	0.992405|0.992405	.|D;B;B	.|0.65815	.|0.995;0.009;0.021	.|D;B;B	.|0.70487	.|0.969;0.029;0.06	T|T	0.68337|0.68337	-0.5435|-0.5435	6|10	0.87932|0.39692	D|T	0|0.17	.|.	14.2798|14.2798	0.66202|0.66202	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|198;124;185	.|B7Z7J1;F2Z300;Q86UX6	.|.;.;ST32C_HUMAN	G|D	255|68;185;198	.|ENSP00000357611:N68D;ENSP00000298630:N185D;ENSP00000357614:N198D	ENSP00000357609:E255G|ENSP00000298630:N185D	E|N	-|-	2|1	0|0	STK32C|STK32C	133890380|133890380	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.918000|0.918000	0.54935|0.54935	5.673000|5.673000	0.68109|0.68109	1.790000|1.790000	0.52503|0.52503	0.378000|0.378000	0.23410|0.23410	GAA|AAC		0.612	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		7	65	0	0	0	1	0	7	65				
ATP9A	10079	broad.mit.edu	37	20	50307319	50307319	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr20:50307319G>A	ENST00000338821.5	-	8	946	c.682C>T	c.(682-684)Cca>Tca	p.P228S	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	228					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAATATTTGGCTCTTCTGCG	0.463																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(682-684)Cca>Tca		ATPase, class II, type 9A							215.0	193.0	200.0					20																	50307319		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50307319G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.682C>T	20.37:g.50307319G>A	ENSP00000342481:p.Pro228Ser					ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	p.P228S	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			8	946	-			228					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.682C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169982	0.78452	.	.	ENSG00000054793	ENST00000338821	D	0.84873	-1.91	5.33	5.33	0.75918	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95254	0.8362	10	0.87932	D	0	-21.8008	19.0096	0.92868	0.0:0.0:1.0:0.0	.	228	O75110	ATP9A_HUMAN	S	228	ENSP00000342481:P228S	ENSP00000342481:P228S	P	-	1	0	ATP9A	49740726	1.000000	0.71417	0.970000	0.41538	0.407000	0.30961	9.448000	0.97600	2.487000	0.83934	0.561000	0.74099	CCA		0.463	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		6	155	0	0	0	1	0	6	155				
UCK2	7371	broad.mit.edu	37	1	165872479	165872479	+	Missense_Mutation	SNP	C	C	A	rs36009659	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr1:165872479C>A	ENST00000367879.4	+	5	863	c.560C>A	c.(559-561)aCg>aAg	p.T187K	UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.T37K|RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000470820.1_Missense_Mutation_p.T37K	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	187					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGTACATTACGTTCGTCAAG	0.383																																						ENST00000367879.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(559-561)aCg>aAg		uridine-cytidine kinase 2							253.0	216.0	228.0					1																	165872479		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165872479C>A	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.560C>A	1.37:g.165872479C>A	ENSP00000356853:p.Thr187Lys					UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	p.T187K	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN			5	863	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		187					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.560C>A	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	C	4.145	0.025302	0.08054	.	.	ENSG00000143179	ENST00000367879	.	.	.	4.83	2.98	0.34508	Phosphoribulokinase/uridine kinase (1);	0.048192	0.85682	D	0.000000	T	0.09555	0.0235	N	0.25144	0.715	0.58432	D	0.999997	B;B	0.25955	0.001;0.138	B;B	0.17722	0.011;0.019	T	0.20672	-1.0268	8	0.02654	T	1	-9.009	8.6162	0.33833	0.0:0.8158:0.0:0.1842	.	37;187	Q9BZX2-2;Q9BZX2	.;UCK2_HUMAN	K	187	.	ENSP00000356853:T187K	T	+	2	0	UCK2	164139103	0.966000	0.33281	0.009000	0.14445	0.864000	0.49448	2.291000	0.43540	0.652000	0.30806	0.655000	0.94253	ACG		0.383	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		3	120	1	0	1	1	1	3	120				
SUPT6H	6830	broad.mit.edu	37	17	27022376	27022376	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr17:27022376A>G	ENST00000314616.6	+	29	4064	c.3781A>G	c.(3781-3783)Atg>Gtg	p.M1261V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1261	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ctaGGTGGGAATGACTGTTCA	0.488																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3781-3783)Atg>Gtg		suppressor of Ty 6 homolog (S. cerevisiae)							95.0	70.0	79.0					17																	27022376		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27022376A>G	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3781A>G	17.37:g.27022376A>G	ENSP00000319104:p.Met1261Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V	p.M1261V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			29	4064	+	Lung NSC(42;0.00431)		1261			S1 motif.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3781A>G	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103089	0.76983	.	.	ENSG00000109111	ENST00000314616	T	0.40476	1.03	5.59	5.59	0.84812	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.070311	0.85682	D	0.000000	T	0.53883	0.1824	L	0.59912	1.85	0.80722	D	1	D	0.56521	0.976	P	0.54270	0.747	T	0.54330	-0.8310	10	0.46703	T	0.11	-20.9434	15.7706	0.78164	1.0:0.0:0.0:0.0	.	1261	Q7KZ85	SPT6H_HUMAN	V	1261	ENSP00000319104:M1261V	ENSP00000319104:M1261V	M	+	1	0	SUPT6H	24046503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.848000	0.92172	2.123000	0.65237	0.533000	0.62120	ATG		0.488	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		10	29	0	0	0	1	0	10	29				
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr17:46620496A>G	ENST00000330070.4	-	2	2172	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB2_ENST00000504772.3_5'UTR|HOXB-AS1_ENST00000508688.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	335					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P335P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587																																						ENST00000330070.4																			2	Substitution - coding silent(2)	p.P335P(2)	lung(2)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(1003-1005)ccT>ccC		homeobox B2							80.0	83.0	82.0					17																	46620496		2203	4300	6503	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620496A>G		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.1005T>C	17.37:g.46620496A>G						HOXB2_ENST00000504772.3_5'UTR	p.P335P	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			2	2172	-			335					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.1005T>C	CCDS11527.1																																																																																				0.587	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			4	144	0	0	0	1	0	4	144				
SCN2A	6326	broad.mit.edu	37	2	166229841	166229841	+	Missense_Mutation	SNP	G	G	A	rs121917753		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr2:166229841G>A	ENST00000375437.2	+	21	4246	c.3956G>A	c.(3955-3957)cGg>cAg	p.R1319Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1319Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1319Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1319Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1319			R -> Q (in BFIS3). {ECO:0000269|PubMed:15048894}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTTTGTCCCGGTTTGAAGGA	0.433																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118	GRCh37	CM040797	SCN2A	M	rs121917753	c.(3955-3957)cGg>cAg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						136.0	133.0	134.0					2																	166229841		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166229841G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3956G>A	2.37:g.166229841G>A	ENSP00000364586:p.Arg1319Gln					SCN2A_ENST00000283256.6_Missense_Mutation_p.R1319Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1319Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1319Q	p.R1319Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			21	4246	+			1319		R -> Q (in BFIC3).			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3956G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	36	5.675301	0.96764	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.64402	D	0.000007	D	0.99074	0.9682	M	0.72576	2.205	0.58432	A	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.915;0.998	D	0.99860	1.1082	9	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1319;1319	Q99250-2;Q99250	.;SCN2A_HUMAN	Q	1319	ENSP00000364586:R1319Q;ENSP00000349973:R1319Q;ENSP00000283256:R1319Q;ENSP00000364576:R1319Q	ENSP00000283256:R1319Q	R	+	2	0	SCN2A	165938087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGG		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		11	52	0	0	0	1	0	11	52				
USP15	9958	broad.mit.edu	37	12	62777707	62777707	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr12:62777707A>C	ENST00000280377.5	+	10	1234	c.1176A>C	c.(1174-1176)ttA>ttC	p.L392F	USP15_ENST00000353364.3_Missense_Mutation_p.L363F|USP15_ENST00000393654.3_Missense_Mutation_p.L367F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	392	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGATGGATTACATGAGGATT	0.368																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1174-1176)ttA>ttC		ubiquitin specific peptidase 15							92.0	89.0	90.0					12																	62777707		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777707A>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1176A>C	12.37:g.62777707A>C	ENSP00000280377:p.Leu392Phe					USP15_ENST00000393654.3_Missense_Mutation_p.L367F|USP15_ENST00000353364.3_Missense_Mutation_p.L363F	p.L392F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1234	+			392					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1176A>C	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.612750	0.66672	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.47528	3.36;3.36;0.84	5.4	2.99	0.34606	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.077209	0.52532	D	0.000069	T	0.69940	0.3167	M	0.89353	3.025	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71467	-0.4584	9	.	.	.	-7.9875	10.0164	0.42016	0.8616:0.0:0.1384:0.0	.	392;363	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	F	363;392;367	ENSP00000258123:L363F;ENSP00000280377:L392F;ENSP00000377264:L367F	.	L	+	3	2	USP15	61063974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.015000	0.29963	0.463000	0.27118	0.533000	0.62120	TTA		0.368	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		10	42	0	0	0	1	0	10	42				
FBLN2	2199	broad.mit.edu	37	3	13612699	13612701	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:13612699_13612701delGAG	ENST00000295760.7	+	2	913_915	c.844_846delGAG	c.(844-846)gagdel	p.E286del	FBLN2_ENST00000492059.1_In_Frame_Del_p.E286del|FBLN2_ENST00000535798.1_In_Frame_Del_p.E312del|FBLN2_ENST00000404922.3_In_Frame_Del_p.E286del	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	286	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ggaggaagaagaggaggaggagg	0.655																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(844-846)del		fibulin 2																																				SO:0001651	inframe_deletion	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13612699_13612701delGAG	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.844_846delGAG	3.37:g.13612708_13612710delGAG	ENSP00000295760:p.Glu286del					FBLN2_ENST00000492059.1_In_Frame_Del_p.E286del|FBLN2_ENST00000295760.7_In_Frame_Del_p.E286del|FBLN2_ENST00000535798.1_In_Frame_Del_p.E312del	p.E286del	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		2	963_965	+			286			N.|Subdomain NB (Cys-free).		B7Z9C5|Q8IUI0|Q8IUI1	In_Frame_Del	DEL	ENST00000295760.7	37	c.844_846delGAG	CCDS46762.1																																																																																				0.655	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		2	4						2	4	---	---	---	---
ZBTB47	92999	broad.mit.edu	37	3	42700747	42700749	+	In_Frame_Del	DEL	GGA	GGA	-	rs558162168		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:42700747_42700749delGGA	ENST00000232974.6	+	2	1181_1183	c.900_902delGGA	c.(898-903)cgggag>cgg	p.E307del	ZBTB47_ENST00000457842.3_5'UTR|ZBTB47_ENST00000505904.1_Intron			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	307	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		gcagtggacgggaggaggaggag	0.626																																						ENST00000232974.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(898-903)cgg>cg		zinc finger and BTB domain containing 47				143,3833		3,137,1848						1.8	1.0			11	293,7279		9,275,3502	no	coding	ZBTB47	NM_145166.3		12,412,5350	A1A1,A1R,RR		3.8695,3.5966,3.7755				436,11112				SO:0001651	inframe_deletion	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42700747_42700749delGGA	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.900_902delGGA	3.37:g.42700756_42700758delGGA	ENSP00000232974:p.Glu307del					ZBTB47_ENST00000505904.1_Intron|ZBTB47_ENST00000457842.3_5'UTR	p.RE300del			Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	2	1181_1183	+			26					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	In_Frame_Del	DEL	ENST00000232974.6	37	c.900_902delGGA	CCDS46805.2																																																																																				0.626	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		2	4						2	4	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109124684	109124684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr5:109124684delT	ENST00000261483.4	+	11	2862	c.1810delT	c.(1810-1812)tttfs	p.F604fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	604					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAATTCTGCATTTCTTCTTAT	0.303																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1810-1812)ttfs		mannosidase, alpha, class 2A, member 1							112.0	115.0	114.0					5																	109124684		2202	4297	6499	SO:0001589	frameshift_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109124684delT		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1810delT	5.37:g.109124684delT	ENSP00000261483:p.Phe604fs						p.F604fs	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	11	2862	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	604					Q16767	Frame_Shift_Del	DEL	ENST00000261483.4	37	c.1810delT	CCDS34209.1																																																																																				0.303	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			15	59						15	59	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctgaag>ctg	p.K2067del		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2067	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(6193-6198)ctg>ct		laminin, alpha 2																																				SO:0001651	inframe_deletion	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129762070_129762072delGAA	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6195_6197delGAA	6.37:g.129762076_129762078delGAA	ENSP00000400365:p.Lys2067del						p.LK2065del	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	43	6244_6246	+			2065			Domain II and I.		Q14736|Q5VUM2|Q93022	In_Frame_Del	DEL	ENST00000421865.2	37	c.6195_6197delGAA	CCDS5138.1																																																																																				0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			7	38						7	38	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)cfs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs						p.C404fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1312_1313	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			7	221						7	221	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		7	196						7	196	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	C	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr13:52796688delC	ENST00000451298.1	-	0	1229				TPTE2P2_ENST00000606973.1_RNA																							cgctattgctccccacccatc	0.537																																						ENST00000451298.1																			0																																																			0							g.chr13:52796688delC																													13.37:g.52796688delC						RP11-64P12.8_ENST00000606031.1_RNA								0	1229	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.537	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			3	4						3	4	---	---	---	---
OSCAR	126014	broad.mit.edu	37	19	54598563	54598563	+	3'UTR	DEL	C	C	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:54598563delC	ENST00000284648.6	-	0	1426				OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000358375.4_Frame_Shift_Del_p.V239fs|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000356532.3_Frame_Shift_Del_p.V243fs|OSCAR_ENST00000351806.4_Frame_Shift_Del_p.V228fs			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GAGATGAGGACCAGCCCGGCC	0.697																																						ENST00000358375.4																			0				large_intestine(1)|skin(1)	2						c.(715-717)tcfs		osteoclast associated, immunoglobulin-like receptor							16.0	19.0	18.0					19																	54598563		2198	4291	6489	SO:0001624	3_prime_UTR_variant	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54598563delC	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.*380G>-	19.37:g.54598563delC						OSCAR_ENST00000351806.4_Frame_Shift_Del_p.V228fs|OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000356532.3_Frame_Shift_Del_p.V243fs|OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000359649.4_3'UTR	p.V239fs	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN			5	760	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		0					B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Frame_Shift_Del	DEL	ENST00000284648.6	37	c.715delG																																																																																					0.697	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		4	8						4	8	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-	rs375955867		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 11). {ECO:0000305}.	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						TTGTGCTTGGCCTCCTCCTCCTC	0.65			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.(4048-4053)gcc>g		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.chr22:36689419_36689421delCCT		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.4049_4051delAGG	22.37:g.36689428_36689430delCCT	ENSP00000216181:p.Glu1350del						p.EA1350del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			30	4279_4281	-			1350	E -> EE (in Ref. 7).				A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.4049_4051delAGG	CCDS13927.1																																																																																				0.650	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		8	108						8	108	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			5	7						5	7	---	---	---	---
LINC01158	100506421	broad.mit.edu	37	2	105440960	105440965	+	RNA	DEL	TGGTGA	TGGTGA	-	rs376797707		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr2:105440960_105440965delTGGTGA	ENST00000458253.1	-	0	147				AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000454729.1_RNA																							gtagtgatggtggtgatggtggtggt	0.568																																						ENST00000458253.1																			0																																																			0							g.chr2:105440960_105440965delTGGTGA																													2.37:g.105440960_105440965delTGGTGA						AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000454729.1_RNA								0	147	-									RNA	DEL	ENST00000458253.1	37																																																																																						0.568	AC018730.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000329327.1			3	3						3	3	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109124684	109124684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr5:109124684delT	ENST00000261483.4	+	11	2862	c.1810delT	c.(1810-1812)tttfs	p.F604fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	604					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAATTCTGCATTTCTTCTTAT	0.303																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1810-1812)ttfs		mannosidase, alpha, class 2A, member 1							112.0	115.0	114.0					5																	109124684		2202	4297	6499	SO:0001589	frameshift_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109124684delT		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1810delT	5.37:g.109124684delT	ENSP00000261483:p.Phe604fs						p.F604fs	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	11	2862	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	604					Q16767	Frame_Shift_Del	DEL	ENST00000261483.4	37	c.1810delT	CCDS34209.1																																																																																				0.303	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			15	59						15	59	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A	rs372292910		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(907-909)aaafs	p.K303fs	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366																																						ENST00000194152.1																			1	Deletion - Frameshift(1)	p.K305fs*12(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(904-909)ttaaaafs						6,4244		0,6,2119						3.5	0.7			99	16,8224		0,16,4104	no	frameshift	PCDHB4	NM_018938.2		0,22,6223	A1A1,A1R,RR		0.1942,0.1412,0.1761				22,12468				SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502486_140502487insA	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.915dupA	5.37:g.140502495_140502495dupA	ENSP00000194152:p.Lys303fs						p.LK302fs	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	906_907	+			302			Cadherin 3.		Q4V761	Frame_Shift_Ins	INS	ENST00000194152.1	37	c.906_907insA	CCDS4246.1																																																																																				0.366	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		9	150						9	150	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctgaag>ctg	p.K2067del		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2067	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(6193-6198)ctg>ct		laminin, alpha 2																																				SO:0001651	inframe_deletion	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129762070_129762072delGAA	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6195_6197delGAA	6.37:g.129762076_129762078delGAA	ENSP00000400365:p.Lys2067del						p.LK2065del	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	43	6244_6246	+			2065			Domain II and I.		Q14736|Q5VUM2|Q93022	In_Frame_Del	DEL	ENST00000421865.2	37	c.6195_6197delGAA	CCDS5138.1																																																																																				0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			7	38						7	38	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)cfs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs						p.C404fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1312_1313	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			7	221						7	221	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	66						7	66	---	---	---	---
RP11-408B11.2	0	broad.mit.edu	37	12	85713212	85713214	+	lincRNA	DEL	TCC	TCC	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr12:85713212_85713214delTCC	ENST00000555596.1	+	0	78																											cttctcctcttcctcctcctcct	0.507																																						ENST00000555596.1																			0																																																			0							g.chr12:85713212_85713214delTCC																													12.37:g.85713221_85713223delTCC														0	78	+									RNA	DEL	ENST00000555596.1	37																																																																																						0.507	RP11-408B11.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409807.1			2	4						2	4	---	---	---	---
OSCAR	126014	broad.mit.edu	37	19	54598563	54598563	+	3'UTR	DEL	C	C	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr19:54598563delC	ENST00000284648.6	-	0	1426				OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000358375.4_Frame_Shift_Del_p.V239fs|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000356532.3_Frame_Shift_Del_p.V243fs|OSCAR_ENST00000351806.4_Frame_Shift_Del_p.V228fs			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GAGATGAGGACCAGCCCGGCC	0.697																																						ENST00000358375.4																			0				large_intestine(1)|skin(1)	2						c.(715-717)tcfs		osteoclast associated, immunoglobulin-like receptor							16.0	19.0	18.0					19																	54598563		2198	4291	6489	SO:0001624	3_prime_UTR_variant	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54598563delC	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.*380G>-	19.37:g.54598563delC						OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000356532.3_Frame_Shift_Del_p.V243fs|OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000351806.4_Frame_Shift_Del_p.V228fs	p.V239fs	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN			5	760	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		0					B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Frame_Shift_Del	DEL	ENST00000284648.6	37	c.715delG																																																																																					0.697	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		4	8						4	8	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		9	252						9	252	---	---	---	---
