#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
ZBTB40	9923	broad.mit.edu	37	1	22835047	22835047	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:22835047G>T	ENST00000375647.4	+	8	1729	c.1522G>T	c.(1522-1524)Gac>Tac	p.D508Y	ZBTB40_ENST00000404138.1_Missense_Mutation_p.D508Y|ZBTB40_ENST00000374651.4_Missense_Mutation_p.D396Y	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	508					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTGAAACGTGACTCTGGTTC	0.483																																						uc001bft.2																			0				ovary(1)	1						c.(1522-1524)GAC>TAC		zinc finger and BTB domain containing 40							150.0	146.0	147.0					1																	22835047		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22835047G>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1522G>T	1.37:g.22835047G>T	ENSP00000364798:p.Asp508Tyr					ZBTB40_uc001bfu.2_Missense_Mutation_p.D508Y|ZBTB40_uc009vqi.1_Missense_Mutation_p.D396Y|ZBTB40_uc001bfv.1_Missense_Mutation_p.D137Y	p.D508Y	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	9	2033	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	508					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1522G>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427546	0.43122	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.79352	-1.26;-1.26;-1.26	6.06	5.15	0.70609	.	0.612517	0.15219	N	0.274041	T	0.73079	0.3541	N	0.24115	0.695	0.09310	N	1	P;P	0.52692	0.955;0.924	P;P	0.51135	0.66;0.459	T	0.65537	-0.6144	10	0.87932	D	0	-3.9436	10.104	0.42521	0.1517:0.0:0.8483:0.0	.	396;508	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	Y	508;508;396	ENSP00000384527:D508Y;ENSP00000364798:D508Y;ENSP00000363782:D396Y	ENSP00000363782:D396Y	D	+	1	0	ZBTB40	22707634	0.041000	0.20044	0.098000	0.21074	0.993000	0.82548	2.449000	0.44935	1.580000	0.49851	0.655000	0.94253	GAC		0.483	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870	
HMCN1	83872	broad.mit.edu	37	1	186121993	186121993	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:186121993T>G	ENST00000271588.4	+	96	15237	c.15008T>G	c.(15007-15009)gTc>gGc	p.V5003G	HMCN1_ENST00000367492.2_Missense_Mutation_p.V5003G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5003	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTGCTGAAGTCACTGTAAAG	0.438																																						uc001grq.1																			0				ovary(22)|skin(1)	23						c.(15007-15009)GTC>GGC		hemicentin 1 precursor							201.0	174.0	183.0					1																	186121993		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186121993T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15008T>G	1.37:g.186121993T>G	ENSP00000271588:p.Val5003Gly					HMCN1_uc001grs.1_Missense_Mutation_p.V572G	p.V5003G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			96	15237	+			5003			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15008T>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703272	0.88924	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.47869	0.83;0.83	5.9	5.9	0.94986	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.227351	0.45361	D	0.000371	T	0.61236	0.2331	L	0.46157	1.445	0.80722	D	1	D	0.55385	0.971	P	0.62298	0.9	T	0.63567	-0.6608	10	0.87932	D	0	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	5003	Q96RW7	HMCN1_HUMAN	G	5003	ENSP00000271588:V5003G;ENSP00000356462:V5003G	ENSP00000271588:V5003G	V	+	2	0	HMCN1	184388616	1.000000	0.71417	0.501000	0.27601	0.863000	0.49368	7.716000	0.84723	2.251000	0.74343	0.528000	0.53228	GTC		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
OBSCN	84033	broad.mit.edu	37	1	228559651	228559651	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:228559651C>T	ENST00000422127.1	+	94	21216	c.21172C>T	c.(21172-21174)Cct>Tct	p.P7058S	OBSCN_ENST00000570156.2_Missense_Mutation_p.P8015S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P4692S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7058	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCATGCCCTCCTGGCTCCTT	0.672																																						uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(21172-21174)CCT>TCT		obscurin, cytoskeletal calmodulin and							33.0	36.0	35.0					1																	228559651		1902	4111	6013	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228559651C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21172C>T	1.37:g.228559651C>T	ENSP00000409493:p.Pro7058Ser					OBSCN_uc001hsr.1_Missense_Mutation_p.P1687S	p.P7058S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			94	21216	+		Prostate(94;0.0405)	7058			Pro-rich.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.21172C>T	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.07|13.07	2.128825|2.128825	0.37533|0.37533	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.62941|.	-0.01;0.03|.	4.39|4.39	-0.927|-0.927	0.10451|0.10451	.|.	2581.280000|.	0.00166|.	N|.	0.000000|.	T|T	0.15089|0.15089	0.0364|0.0364	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.12013|.	0.005|.	B|.	0.06405|.	0.002|.	T|T	0.31052|0.31052	-0.9957|-0.9957	10|5	0.20046|.	T|.	0.44|.	.|.	8.7552|8.7552	0.34641|0.34641	0.0:0.5666:0.0:0.4334|0.0:0.5666:0.0:0.4334	.|.	7058|.	Q5VST9|.	OBSCN_HUMAN|.	S|F	7058;4692|1674	ENSP00000409493:P7058S;ENSP00000355668:P4692S|.	ENSP00000355668:P4692S|.	P|S	+|+	1|2	0|0	OBSCN|OBSCN	226626274|226626274	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.691000|-0.691000	0.05133|0.05133	-0.368000|-0.368000	0.08040|0.08040	0.455000|0.455000	0.32223|0.32223	CCT|TCC		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
KIAA1804	84451	broad.mit.edu	37	1	233518426	233518426	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:233518426T>C	ENST00000366624.3	+	10	3341	c.3080T>C	c.(3079-3081)aTa>aCa	p.I1027T	MLK4_ENST00000366622.1_Missense_Mutation_p.I473T	NM_032435.2	NP_115811.2																					CGGCCATCTATATATGAACTG	0.428																																						uc001hvt.3																			0				lung(5)|central_nervous_system(2)|skin(1)	8						c.(3079-3081)ATA>ACA		mixed lineage kinase 4							63.0	57.0	59.0					1																	233518426		2203	4300	6503	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233518426T>C																												ENST00000366624.3:c.3080T>C	1.37:g.233518426T>C	ENSP00000355583:p.Ile1027Thr					KIAA1804_uc001hvu.3_Missense_Mutation_p.I473T	p.I1027T	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			10	3341	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	1027						Missense_Mutation	SNP	ENST00000366624.3	37	c.3080T>C	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.900947	0.33535	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.75260	-0.92;3.08	4.68	3.56	0.40772	.	0.274277	0.29522	N	0.011908	T	0.64461	0.2600	L	0.40543	1.245	0.22710	N	0.998827	P;B	0.40431	0.717;0.038	B;B	0.41271	0.352;0.025	T	0.53767	-0.8392	10	0.31617	T	0.26	.	8.7714	0.34735	0.0:0.0858:0.0:0.9141	.	474;1027	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	T	1027;473	ENSP00000355583:I1027T;ENSP00000355581:I473T	ENSP00000355581:I473T	I	+	2	0	RP5-862P8.2	231585049	0.715000	0.27946	0.001000	0.08648	0.940000	0.58332	3.286000	0.51724	0.837000	0.34925	0.460000	0.39030	ATA		0.428	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
PTPRE	5791	broad.mit.edu	37	10	129861345	129861345	+	Splice_Site	SNP	A	A	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr10:129861345A>T	ENST00000254667.3	+	10	904		c.e10-1		PTPRE_ENST00000430713.2_Splice_Site|PTPRE_ENST00000419012.2_Splice_Site|PTPRE_ENST00000306042.5_Splice_Site	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E						negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CTCTACACACAGGTCCCAAAC	0.522																																					Colon(52;977 1184 20575 41685)	uc001lkb.2																			0				ovary(1)	1						c.e10-2		protein tyrosine phosphatase, receptor type, E							90.0	82.0	85.0					10																	129861345		2203	4300	6503	SO:0001630	splice_region_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129861345A>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.626-1A>T	10.37:g.129861345A>T						PTPRE_uc009yat.2_Splice_Site_p.G220_splice|PTPRE_uc010qup.1_Splice_Site|PTPRE_uc009yau.2_Splice_Site_p.G209_splice|PTPRE_uc001lkd.2_Splice_Site_p.G151_splice|PTPRE_uc010quq.1_Splice_Site_p.G110_splice	p.G209_splice	NM_006504	NP_006495	P23469	PTPRE_HUMAN			10	905	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)						Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Splice_Site	SNP	ENST00000254667.3	37	c.626_splice	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266334	0.59540	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2447	0.60016	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRE	129751335	1.000000	0.71417	0.983000	0.44433	0.748000	0.42578	8.631000	0.90991	1.970000	0.57323	0.460000	0.39030	.		0.522	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1		Intron
MEN1	4221	broad.mit.edu	37	11	64575521	64575521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:64575521G>A	ENST00000337652.1	-	3	1014	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	MEN1_ENST00000377313.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.Q166*|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000312049.6_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.Q166*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.Q166*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.Q171*	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	171			Missing (in MEN1). {ECO:0000269|PubMed:9747036}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCCAGGGCCTGGCAGGCCCCA	0.602			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.2			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		0		p.R171Q(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238	GRCh37	CM983963	MEN1	M		c.(511-513)CAG>TAG		menin isoform 1							38.0	39.0	38.0					11																	64575521		2201	4297	6498	SO:0001587	stop_gained	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575521G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.511C>T	11.37:g.64575521G>A	ENSP00000337088:p.Gln171*					MEN1_uc001obk.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obl.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obm.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obn.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obo.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obp.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obq.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obr.2_Nonsense_Mutation_p.Q171*	p.Q171*	NM_130800	NP_570712	O00255	MEN1_HUMAN			3	584	-			171		Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	ENST00000337652.1	37	c.511C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718322	0.96839	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.2802	15.7433	0.77920	0.0:0.0:1.0:0.0	.	.	.	.	X	166;166;166;166;166;171;171;171;171;171;166;166;166	.	ENSP00000308975:Q166X	Q	-	1	0	MEN1	64332097	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.690000	0.91272	2.386000	0.81285	0.462000	0.41574	CAG		0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		
KRTAP5-11	440051	broad.mit.edu	37	11	71293418	71293418	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:71293418T>G	ENST00000398530.1	-	1	503	c.466A>C	c.(466-468)Atc>Ctc	p.I156L	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	156						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GAGCCTCAGATCTTACACTGG	0.542																																						uc001oqu.2																			0					0						c.(466-468)ATC>CTC		keratin associated protein 5-11							79.0	85.0	83.0					11																	71293418		2200	4293	6493	SO:0001583	missense	440051					keratin filament		g.chr11:71293418T>G	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.466A>C	11.37:g.71293418T>G	ENSP00000381541:p.Ile156Leu						p.I156L	NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN			1	504	-			156						Missense_Mutation	SNP	ENST00000398530.1	37	c.466A>C	CCDS41685.1	.	.	.	.	.	.	.	.	.	.	.	2.974	-0.211726	0.06140	.	.	ENSG00000204571	ENST00000398530	T	0.00892	5.57	1.88	-1.15	0.09709	.	.	.	.	.	T	0.01353	0.0044	M	0.77103	2.36	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49103	-0.8974	9	0.87932	D	0	.	0.1709	0.00113	0.2334:0.1666:0.2364:0.3635	.	156	Q6L8G4	KR511_HUMAN	L	156	ENSP00000381541:I156L	ENSP00000381541:I156L	I	-	1	0	KRTAP5-11	70971066	0.993000	0.37304	0.713000	0.30519	0.050000	0.14768	0.315000	0.19451	-0.266000	0.09339	0.445000	0.29226	ATC		0.542	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405	
INPPL1	3636	broad.mit.edu	37	11	71942586	71942586	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:71942586delC	ENST00000298229.2	+	13	1746	c.1542delC	c.(1540-1542)gtcfs	p.V514fs	INPPL1_ENST00000541756.1_Frame_Shift_Del_p.V272fs|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.V272fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	514					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGCTGGTCAAGCCAGAGC	0.567																																						uc001osf.2																			0				skin(2)|ovary(1)|breast(1)	4						c.(1540-1542)GTCfs		inositol polyphosphate phosphatase-like 1							126.0	95.0	105.0					11																	71942586		2200	4293	6493	SO:0001589	frameshift_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71942586delC	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1542delC	11.37:g.71942586delC	ENSP00000298229:p.Val514fs					INPPL1_uc001osg.2_Frame_Shift_Del_p.V272fs	p.V514fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN			13	1689	+			514					B2RTX5|Q13577|Q13578	Frame_Shift_Del	DEL	ENST00000298229.2	37	c.1542delC	CCDS8213.1																																																																																				0.567	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	
RAB30	27314	broad.mit.edu	37	11	82693315	82693315	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:82693315G>A	ENST00000533486.1	-	6	788	c.504C>T	c.(502-504)tgC>tgT	p.C168C	RAB30_ENST00000534141.1_3'UTR|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Silent_p.C168C|RAB30_ENST00000260056.2_Silent_p.C168C	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	168					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TGATGAGTCGGCATGCTAAGT	0.438																																						uc001ozu.2																			0					0						c.(502-504)TGC>TGT		RAB30, member RAS oncogene family							173.0	149.0	157.0					11																	82693315		2203	4300	6503	SO:0001819	synonymous_variant	27314				protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	g.chr11:82693315G>A	U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.504C>T	11.37:g.82693315G>A						RAB30_uc009yve.2_Silent_p.C166C|RAB30_uc010rst.1_Silent_p.C166C|RAB30_uc001ozv.2_3'UTR	p.C168C	NM_014488	NP_055303	Q15771	RAB30_HUMAN			6	765	-			168					Q6FGK1|Q6MZH2|Q96CI8	Silent	SNP	ENST00000533486.1	37	c.504C>T	CCDS8264.1																																																																																				0.438	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488	
SESN3	143686	broad.mit.edu	37	11	94924753	94924756	+	Frame_Shift_Del	DEL	TTGC	TTGC	-			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:94924753_94924756delTTGC	ENST00000536441.1	-	3	490_493	c.154_157delGCAA	c.(154-159)gcaaacfs	p.AN52fs	SESN3_ENST00000537480.1_5'UTR|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_5'UTR|SESN3_ENST00000393234.1_Frame_Shift_Del_p.AN52fs|SESN3_ENST00000416495.2_Frame_Shift_Del_p.AN52fs|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	52					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCCACTGTGTTTGCTTGGACAACC	0.368																																						uc001pfk.1																			0					0						c.(154-159)GCAAACfs		sestrin 3																																				SO:0001589	frameshift_variant	143686				cell cycle arrest	nucleus		g.chr11:94924753_94924756delTTGC	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.154_157delGCAA	11.37:g.94924753_94924756delTTGC	ENSP00000441927:p.Ala52fs					SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.2_Frame_Shift_Del_p.A52fs	p.A52fs	NM_144665	NP_653266	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	3	376_379	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	52_53					B7Z7P9|Q96AD1	Frame_Shift_Del	DEL	ENST00000536441.1	37	c.154_157delGCAA	CCDS8303.1																																																																																				0.368	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665	
HELB	92797	broad.mit.edu	37	12	66698566	66698566	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr12:66698566G>A	ENST00000247815.4	+	2	302	c.243G>A	c.(241-243)ccG>ccA	p.P81P		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	81					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GACGTTTTCCGATAACAGGTG	0.378																																						uc001sti.2																			0				central_nervous_system(1)|pancreas(1)	2						c.(241-243)CCG>CCA		helicase (DNA) B							129.0	126.0	127.0					12																	66698566		2203	4300	6503	SO:0001819	synonymous_variant	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66698566G>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.243G>A	12.37:g.66698566G>A						HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.P81P	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	2	271	+			81					A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	c.243G>A	CCDS8976.1																																																																																				0.378	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1		
CABP1	9478	broad.mit.edu	37	12	121098105	121098105	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr12:121098105G>A	ENST00000316803.3	+	3	926	c.792G>A	c.(790-792)atG>atA	p.M264I	CABP1_ENST00000453000.1_Missense_Mutation_p.M200I|CABP1_ENST00000351200.2_Missense_Mutation_p.M61I|CABP1_ENST00000288616.3_Missense_Mutation_p.M121I	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	264	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCACCGAGATGGAGCTCATCG	0.572																																						uc001tyu.2																			0				central_nervous_system(1)	1						c.(790-792)ATG>ATA		calcium binding protein 1 isoform 3							121.0	103.0	109.0					12																	121098105		2203	4300	6503	SO:0001583	missense	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098105G>A	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.792G>A	12.37:g.121098105G>A	ENSP00000317310:p.Met264Ile					CABP1_uc001tyv.2_Missense_Mutation_p.M121I|CABP1_uc001tyw.2_Missense_Mutation_p.M61I|CABP1_uc001tyx.2_Missense_Mutation_p.M106I	p.M264I	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN			3	859	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		264			EF-hand 2.		O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.792G>A	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296471	0.95574	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.3	5.3	0.74995	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	M	0.76574	2.34	0.80722	D	1	D;P;D;D	0.76494	0.997;0.953;0.999;0.974	D;P;D;D	0.87578	0.994;0.846;0.998;0.984	T	0.02837	-1.1104	10	0.72032	D	0.01	-22.4622	18.9541	0.92650	0.0:0.0:1.0:0.0	.	200;61;121;264	C9J8G2;Q9NZU7-2;Q9NZU7-1;Q9NZU7	.;.;.;CABP1_HUMAN	I	264;121;61;200	ENSP00000317310:M264I;ENSP00000288616:M121I;ENSP00000288615:M61I;ENSP00000398959:M200I	ENSP00000288616:M121I	M	+	3	0	CABP1	119582488	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.482000	0.83794	0.591000	0.81541	ATG		0.572	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677	
HERC2	8924	broad.mit.edu	37	15	28389261	28389261	+	Missense_Mutation	SNP	G	G	A	rs575646071		TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr15:28389261G>A	ENST00000261609.7	-	73	11369	c.11261C>T	c.(11260-11262)gCg>gTg	p.A3754V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCGAGGCCGCAAGGCGAGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21338	0.0		0.0	False		,,,				2504	0.001					uc001zbj.2																			0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(11260-11262)GCG>GTG		hect domain and RLD 2							112.0	100.0	104.0					15																	28389261		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28389261G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11261C>T	15.37:g.28389261G>A	ENSP00000261609:p.Ala3754Val						p.A3754V	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	73	11367	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3754						Missense_Mutation	SNP	ENST00000261609.7	37	c.11261C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506069	0.85282	.	.	ENSG00000128731	ENST00000261609	T	0.43688	0.94	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	L	0.45137	1.4	0.80722	D	1	D	0.57899	0.981	P	0.45377	0.478	T	0.36138	-0.9760	10	0.49607	T	0.09	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	3754	O95714	HERC2_HUMAN	V	3754	ENSP00000261609:A3754V	ENSP00000261609:A3754V	A	-	2	0	HERC2	26062856	1.000000	0.71417	0.298000	0.25002	0.539000	0.34962	9.420000	0.97426	2.783000	0.95769	0.655000	0.94253	GCG		0.537	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
WASH3P	374666	broad.mit.edu	37	15	102515344	102515344	+	RNA	SNP	A	A	C	rs201179768		TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr15:102515344A>C	ENST00000557932.1	+	0	1190				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GCTGGAGAAGAAGCAGCAGAA	0.662																																						uc002cdi.2																			0					0						c.(568-570)AAG>CAG		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515344A>C			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515344A>C						WASH3P_uc002cdl.2_Missense_Mutation_p.K190Q|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.K190Q|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.K190Q	NR_003659						9	1988	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.568A>C		.	.	.	.	.	.	.	.	.	.	N	3.851	-0.031828	0.07543	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.101796	0.64402	D	0.000003	T	0.38692	0.1050	.	.	.	.	.	.	.	.	.	.	.	.	T	0.43893	-0.9363	4	.	.	.	-23.4337	6.225	0.20703	1.0:0.0:0.0:0.0	.	.	.	.	Q	398;389	.	.	K	+	1	0	WASH3P	100332867	1.000000	0.71417	0.992000	0.48379	0.387000	0.30353	7.578000	0.82498	0.719000	0.32188	0.155000	0.16302	AAG		0.662	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
MRPS34	65993	broad.mit.edu	37	16	1823074	1823075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr16:1823074_1823075insG	ENST00000397375.2	-	1	81_82	c.46_47insC	c.(46-48)cgcfs	p.R16fs	EME2_ENST00000307394.7_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_Frame_Shift_Ins_p.R16fs|EME2_ENST00000568449.1_5'Flank	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	16						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						GCGCACGCGGCGGGCCAGCTCC	0.723																																						uc002cmo.2																			0				skin(2)	2						c.(46-48)CGCfs		mitochondrial ribosomal protein S34																																				SO:0001589	frameshift_variant	65993					mitochondrion|ribosome	protein binding	g.chr16:1823074_1823075insG	BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"""Mitochondrial ribosomal proteins / small subunits"""	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.47dupC	16.37:g.1823077_1823077dupG	ENSP00000380531:p.Arg16fs					NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmp.1_Frame_Shift_Ins_p.R16fs|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	p.R16fs	NM_023936	NP_076425	P82930	RT34_HUMAN			1	66_67	-			16					Q9BVI7	Frame_Shift_Ins	INS	ENST00000397375.2	37	c.46_47insC	CCDS10444.1																																																																																				0.723	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1	NM_023936	
RNF40	9810	broad.mit.edu	37	16	30774843	30774843	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr16:30774843G>A	ENST00000324685.6	+	4	840	c.405G>A	c.(403-405)ggG>ggA	p.G135G	C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000563683.1_Silent_p.G135G|RNF40_ENST00000357890.5_Silent_p.G135G|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	135					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CATGTGATGGGACTCCTCTCC	0.612																																						uc002dzq.2																			0				central_nervous_system(1)	1						c.(403-405)GGG>GGA		ring finger protein 40							41.0	43.0	43.0					16																	30774843		2197	4300	6497	SO:0001819	synonymous_variant	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30774843G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.405G>A	16.37:g.30774843G>A						C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Silent_p.G135G|RNF40_uc010cab.2_Silent_p.G135G|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.G135G|RNF40_uc010vfb.1_Intron	p.G135G	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		4	528	+			135					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	c.405G>A	CCDS10691.1																																																																																				0.612	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771	
KRTAP1-1	81851	broad.mit.edu	37	17	39197186	39197186	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr17:39197186C>T	ENST00000306271.4	-	1	527	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	155						keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GTAGGATGGGCGGCAGCAGGA	0.637																																						uc002hvw.1																			0					0						c.(463-465)CGC>CAC		keratin associated protein 1-1							28.0	33.0	32.0					17																	39197186		2057	4174	6231	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197186C>T	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.464G>A	17.37:g.39197186C>T	ENSP00000305975:p.Arg155His						p.R155H	NM_030967	NP_112229	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	528	-		Breast(137;0.000496)	155					A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.464G>A	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658632	0.88154	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.47528	0.84	4.46	4.46	0.54185	.	.	.	.	.	T	0.74152	0.3679	M	0.90922	3.16	0.40328	D	0.97889	D	0.89917	1.0	D	0.81914	0.995	T	0.80522	-0.1345	9	0.66056	D	0.02	.	15.4907	0.75602	0.0:1.0:0.0:0.0	.	155	Q07627	KRA11_HUMAN	H	155;145	ENSP00000305975:R155H	ENSP00000305975:R155H	R	-	2	0	KRTAP1-1	36450712	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.110000	0.57831	2.785000	0.95823	0.650000	0.86243	CGC		0.637	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967	
C19orf10	56005	broad.mit.edu	37	19	4668644	4668644	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:4668644C>T	ENST00000262947.3	-	2	223	c.188G>A	c.(187-189)tGt>tAt	p.C63Y	C19orf10_ENST00000599630.1_Missense_Mutation_p.C63Y	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	63					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AGTGAACATACACGTATATTT	0.413																																						uc002may.2																			0					0						c.(187-189)TGT>TAT		hypothetical protein LOC56005 precursor							114.0	100.0	105.0					19																	4668644		2203	4300	6503	SO:0001583	missense	56005					ER-Golgi intermediate compartment|extracellular region		g.chr19:4668644C>T	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"""interleukin 27 working designation"""	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.188G>A	19.37:g.4668644C>T	ENSP00000262947:p.Cys63Tyr						p.C63Y	NM_019107	NP_061980	Q969H8	CS010_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)	2	257	-		Hepatocellular(1079;0.137)	63					D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	ENST00000262947.3	37	c.188G>A	CCDS12133.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175461	0.78564	.	.	ENSG00000074842	ENST00000262947	T	0.73047	-0.71	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.82632	0.5079	M	0.71581	2.175	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	D	0.84849	0.0812	10	0.87932	D	0	-12.2486	14.7912	0.69844	0.0:1.0:0.0:0.0	.	63	Q969H8	CS010_HUMAN	Y	63	ENSP00000262947:C63Y	ENSP00000262947:C63Y	C	-	2	0	C19orf10	4619644	0.999000	0.42202	0.037000	0.18230	0.664000	0.39144	5.646000	0.67916	2.398000	0.81561	0.561000	0.74099	TGT		0.413	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107	
ZNF317	57693	broad.mit.edu	37	19	9267420	9267420	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:9267420C>T	ENST00000247956.6	+	3	463	c.158C>T	c.(157-159)tCc>tTc	p.S53F	ZNF317_ENST00000360385.3_Missense_Mutation_p.S53F	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	53					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(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGTGTTGGTTCCCAGGTGCAC	0.527																																						uc002mku.2																			0					0						c.(157-159)TCC>TTC		zinc finger protein 317							98.0	95.0	96.0					19																	9267420		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9267420C>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.158C>T	19.37:g.9267420C>T	ENSP00000247956:p.Ser53Phe					ZNF317_uc010xkm.1_Silent_p.F94F|ZNF317_uc002mkv.2_5'UTR|ZNF317_uc002mkw.2_Missense_Mutation_p.S53F|ZNF317_uc002mkx.2_5'UTR|ZNF317_uc002mky.2_5'UTR	p.S53F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN			3	433	+			53					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.158C>T	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443046	0.43326	.	.	ENSG00000130803	ENST00000247956;ENST00000360385;ENST00000419608	T;T	0.00808	5.67;5.67	3.04	3.04	0.35103	Krueppel-associated box (1);	0.434403	0.17233	N	0.181874	T	0.00695	0.0023	N	0.08118	0	0.18873	N	0.999989	P;B	0.35656	0.514;0.38	B;B	0.38056	0.264;0.135	T	0.53514	-0.8428	10	0.09590	T	0.72	-22.7796	12.3048	0.54895	0.0:1.0:0.0:0.0	.	53;53	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	F	53;53;67	ENSP00000247956:S53F;ENSP00000353554:S53F	ENSP00000247956:S53F	S	+	2	0	ZNF317	9128420	0.006000	0.16342	0.053000	0.19242	0.036000	0.12997	0.792000	0.26929	1.999000	0.58509	0.585000	0.79938	TCC		0.527	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
MAN2B1	4125	broad.mit.edu	37	19	12763065	12763065	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:12763065C>G	ENST00000456935.2	-	16	1988	c.1948G>C	c.(1948-1950)Gac>Cac	p.D650H	MAN2B1_ENST00000221363.4_Missense_Mutation_p.D649H	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	650					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTTTCGTTGTCACCTATACTG	0.597																																						uc002mub.2																			0				ovary(4)|central_nervous_system(2)	6						c.(1948-1950)GAC>CAC		mannosidase, alpha, class 2B, member 1							141.0	110.0	120.0					19																	12763065		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12763065C>G		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1948G>C	19.37:g.12763065C>G	ENSP00000395473:p.Asp650His					MAN2B1_uc010dyv.1_Missense_Mutation_p.D649H	p.D650H	NM_000528	NP_000519	O00754	MA2B1_HUMAN			16	2024	-			650					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1948G>C	CCDS32919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.39|16.39	3.111072|3.111072	0.56398|0.56398	.|.	.|.	ENSG00000104774|ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363|ENST00000433513	T;T|.	0.79033|.	-1.23;-1.23|.	5.51|5.51	-5.32|-5.32	0.02722|0.02722	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	0.700409|.	0.11708|.	N|.	0.537246|.	T|.	0.56187|.	0.1968|.	M|M	0.79011|0.79011	2.435|2.435	0.09310|0.09310	N|N	1|1	B;B|.	0.23806|.	0.02;0.091|.	B;B|.	0.28385|.	0.036;0.089|.	T|.	0.60177|.	-0.7314|.	10|.	0.59425|.	D|.	0.04|.	-10.4062|-10.4062	14.095|14.095	0.65016|0.65016	0.0:0.2442:0.0:0.7558|0.0:0.2442:0.0:0.7558	.|.	649;650|.	G5E928;O00754|.	.;MA2B1_HUMAN|.	H|S	650;589;649|185	ENSP00000395473:D650H;ENSP00000221363:D649H|.	ENSP00000221363:D649H|.	D|X	-|-	1|2	0|2	MAN2B1|MAN2B1	12624065|12624065	0.008000|0.008000	0.16893|0.16893	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	0.100000|0.100000	0.15231|0.15231	-0.963000|-0.963000	0.03600|0.03600	0.655000|0.655000	0.94253|0.94253	GAC|TGA		0.597	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		
TMEM147	10430	broad.mit.edu	37	19	36037641	36037641	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:36037641C>T	ENST00000222284.5	+	4	420	c.275C>T	c.(274-276)gCc>gTc	p.A92V	TMEM147_ENST00000392204.2_Missense_Mutation_p.A43V|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.A92V|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	92						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A92V(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCCGGAATGCCGGCAAGGGA	0.572																																						uc002oaj.1																			1	Substitution - Missense(1)		prostate(1)		0						c.(274-276)GCC>GTC		transmembrane protein 147							103.0	90.0	94.0					19																	36037641		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037641C>T	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.275C>T	19.37:g.36037641C>T	ENSP00000222284:p.Ala92Val					uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Missense_Mutation_p.A43V|TMEM147_uc002oak.1_Missense_Mutation_p.P2S	p.A92V	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	372	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		92					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.275C>T	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962852	0.74016	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.44482	0.92;0.92;0.92	5.31	5.31	0.75309	.	0.051996	0.85682	D	0.000000	T	0.36744	0.0978	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	P	0.45998	0.5	T	0.07597	-1.0764	10	0.06236	T	0.91	-13.738	16.5222	0.84320	0.0:1.0:0.0:0.0	.	92	Q9BVK8	TM147_HUMAN	V	43;92;92	ENSP00000376040:A43V;ENSP00000222284:A92V;ENSP00000376041:A92V	ENSP00000222284:A92V	A	+	2	0	TMEM147	40729481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.008000	0.63991	2.764000	0.94973	0.655000	0.94253	GCC		0.572	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635	
EXOSC5	56915	broad.mit.edu	37	19	41895788	41895788	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:41895788G>A	ENST00000221233.4	-	4	557	c.407C>T	c.(406-408)gCc>gTc	p.A136V	EXOSC5_ENST00000596905.1_Missense_Mutation_p.A98V|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	136					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CATGCAGGCGGCATTCAGACA	0.552																																						uc002oqo.2																			0					0						c.(406-408)GCC>GTC		exosome component Rrp46							55.0	55.0	55.0					19																	41895788		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41895788G>A	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.407C>T	19.37:g.41895788G>A	ENSP00000221233:p.Ala136Val					CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron	p.A136V	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN			4	430	-			136					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.407C>T	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253259	0.80135	.	.	ENSG00000077348	ENST00000221233	T	0.75938	-0.98	5.03	4.0	0.46444	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.160189	0.53938	N	0.000043	T	0.74831	0.3768	M	0.85630	2.765	0.53005	D	0.999964	P	0.46142	0.873	B	0.38378	0.272	T	0.80605	-0.1308	10	0.87932	D	0	-8.6688	12.5828	0.56399	0.0816:0.0:0.9184:0.0	.	136	Q9NQT4	EXOS5_HUMAN	V	136	ENSP00000221233:A136V	ENSP00000221233:A136V	A	-	2	0	EXOSC5	46587628	1.000000	0.71417	0.875000	0.34327	0.987000	0.75469	6.217000	0.72218	1.488000	0.48433	0.650000	0.86243	GCC		0.552	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158	
NLRP5	126206	broad.mit.edu	37	19	56539217	56539217	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:56539217T>A	ENST00000390649.3	+	7	1618	c.1618T>A	c.(1618-1620)Tgg>Agg	p.W540R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	540	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGGGAGTGTGGAATAGGAA	0.552																																						uc002qmj.2																			0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1618-1620)TGG>AGG		NACHT, LRR and PYD containing protein 5							52.0	55.0	54.0					19																	56539217		2125	4241	6366	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539217T>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1618T>A	19.37:g.56539217T>A	ENSP00000375063:p.Trp540Arg					NLRP5_uc002qmi.2_Missense_Mutation_p.W521R	p.W540R	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1618	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	540			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1618T>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.063107	0.55432	.	.	ENSG00000171487	ENST00000390649	T	0.72725	-0.68	2.97	2.97	0.34412	.	0.000000	0.34460	N	0.003956	T	0.80999	0.4732	M	0.81802	2.56	0.33822	D	0.629137	D	0.71674	0.998	D	0.71656	0.974	D	0.85385	0.1122	10	0.87932	D	0	.	7.7557	0.28923	0.0:0.0:0.0:1.0	.	540	P59047	NALP5_HUMAN	R	540	ENSP00000375063:W540R	ENSP00000375063:W540R	W	+	1	0	NLRP5	61231029	0.993000	0.37304	0.878000	0.34440	0.059000	0.15707	1.303000	0.33470	1.602000	0.50124	0.454000	0.30748	TGG		0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
FIGN	55137	broad.mit.edu	37	2	164467616	164467616	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr2:164467616G>A	ENST00000333129.3	-	3	1040	c.726C>T	c.(724-726)ctC>ctT	p.L242L	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	242	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGTAACTGGAGAGGTTAGAAG	0.612																																						uc002uck.1																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(724-726)CTC>CTT		fidgetin							47.0	51.0	50.0					2																	164467616		1998	4179	6177	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467616G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.726C>T	2.37:g.164467616G>A							p.L242L	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1037	-			242			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.726C>T	CCDS2221.2																																																																																				0.612	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
SNRPB	6628	broad.mit.edu	37	20	2443779	2443779	+	Missense_Mutation	SNP	C	C	T	rs376998028		TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr20:2443779C>T	ENST00000438552.2	-	5	677	c.515G>A	c.(514-516)cGt>cAt	p.R172H	SNRPB_ENST00000339610.6_Missense_Mutation_p.R93H|SNRPB_ENST00000381342.2_Missense_Mutation_p.R172H|SNORD119_ENST00000515997.1_RNA	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	172				RG -> L (in Ref. 4). {ECO:0000305}.	gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						AGGACCCCCACGGCCAGGTGG	0.597																																						uc002wfz.1																			0				ovary(1)	1						c.(514-516)CGT>CAT		small nuclear ribonucleoprotein polypeptide B/B'		C	HIS/ARG,HIS/ARG	0,4384		0,0,2192	48.0	58.0	54.0		515,515	6.2	1.0	20		54	1,8579		0,1,4289	no	missense,missense	SNRPB	NM_003091.3,NM_198216.1	29,29	0,1,6481	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	172/232,172/241	2443779	1,12963	2192	4290	6482	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding	g.chr20:2443779C>T		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.515G>A	20.37:g.2443779C>T	ENSP00000412566:p.Arg172His					SNRPB_uc002wga.1_Missense_Mutation_p.R172H|SNRPB_uc010zpv.1_Missense_Mutation_p.R93H|SNRPB_uc002wgb.2_Missense_Mutation_p.R172H|SNORD119_uc010gam.1_5'Flank	p.R172H	NM_198216	NP_937859	P14678	RSMB_HUMAN			5	678	-			172	RG -> L (in Ref. 4).				Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.515G>A	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615241	0.46631	0.0	1.17E-4	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103;ENST00000339610	T;T	0.46451	0.87;0.88	6.17	6.17	0.99709	.	0.050193	0.85682	D	0.000000	T	0.51449	0.1675	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.69479	0.964;0.964;0.964;0.964	T	0.53606	-0.8415	10	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	93;172;172;172	A8MT02;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	H	172;172;172;93	ENSP00000370746:R172H;ENSP00000412566:R172H	ENSP00000303591:R172H	R	-	2	0	SNRPB	2391779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.349000	0.79376	2.941000	0.99782	0.655000	0.94253	CGT		0.597	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2		
SENP5	205564	broad.mit.edu	37	3	196613120	196613120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr3:196613120G>A	ENST00000323460.5	+	2	1317	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	SENP5_ENST00000445299.2_Nonsense_Mutation_p.W356*|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	356					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CAAACGCCTGGGACCAGTCAT	0.468																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3																			0				breast(2)|lung(1)	3						c.(1066-1068)TGG>TGA		SUMO1/sentrin specific peptidase 5							68.0	64.0	66.0					3																	196613120		2203	4300	6503	SO:0001587	stop_gained	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196613120G>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1068G>A	3.37:g.196613120G>A	ENSP00000327197:p.Trp356*					SENP5_uc011bty.1_Nonsense_Mutation_p.W356*	p.W356*	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	1317	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		356					B4DY82|Q96SA5	Nonsense_Mutation	SNP	ENST00000323460.5	37	c.1068G>A	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	G	37	6.435393	0.97564	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	.	.	.	5.4	5.4	0.78164	.	0.345116	0.28156	N	0.016398	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.678	17.0538	0.86527	0.0:0.0:1.0:0.0	.	.	.	.	X	356	.	ENSP00000327197:W356X	W	+	3	0	SENP5	198097517	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	4.927000	0.63440	2.691000	0.91804	0.655000	0.94253	TGG		0.468	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699	
OR2J2	26707	broad.mit.edu	37	6	29142195	29142195	+	Silent	SNP	C	C	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr6:29142195C>G	ENST00000377167.2	+	1	885	c.783C>G	c.(781-783)ctC>ctG	p.L261L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCATGTATCTCCAGCCACCAT	0.433																																						uc011dlm.1																			0					0						c.(781-783)CTC>CTG		olfactory receptor, family 2, subfamily J,							117.0	110.0	112.0					6																	29142195		1912	4130	6042	SO:0001819	synonymous_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29142195C>G		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.783C>G	6.37:g.29142195C>G							p.L261L	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	885	+			261			Extracellular (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	ENST00000377167.2	37	c.783C>G	CCDS43434.1																																																																																				0.433	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2		
MUC17	140453	broad.mit.edu	37	7	100677921	100677921	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr7:100677921C>T	ENST00000306151.4	+	3	3288	c.3224C>T	c.(3223-3225)aCt>aTt	p.T1075I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1075	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTGACCACTTATTCTCAA	0.488																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3223-3225)ACT>ATT		mucin 17 precursor							431.0	358.0	383.0					7																	100677921		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677921C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3224C>T	7.37:g.100677921C>T	ENSP00000302716:p.Thr1075Ile					MUC17_uc010lho.1_RNA	p.T1075I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3277	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1075			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3224C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.244	0.044289	0.08196	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.74	0.74	0.18330	.	.	.	.	.	T	0.03263	0.0095	L	0.27053	0.805	0.09310	N	1	D	0.63046	0.992	P	0.48627	0.584	T	0.50508	-0.8820	9	0.40728	T	0.16	.	7.4353	0.27152	0.0:1.0:0.0:0.0	.	1075	Q685J3	MUC17_HUMAN	I	1075	ENSP00000302716:T1075I	ENSP00000302716:T1075I	T	+	2	0	MUC17	100464641	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-0.529000	0.06186	0.720000	0.32209	0.134000	0.15878	ACT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
EPHA1	2041	broad.mit.edu	37	7	143098437	143098437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr7:143098437G>A	ENST00000275815.3	-	3	498	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	138	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AAGGGCCGTCGGAGCTGAATG	0.592																																						uc003wcz.2																			0				ovary(3)|lung(1)|breast(1)	5						c.(412-414)CGA>TGA		ephrin receptor EphA1 precursor							95.0	98.0	97.0					7																	143098437		2203	4300	6503	SO:0001587	stop_gained	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143098437G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.412C>T	7.37:g.143098437G>A	ENSP00000275815:p.Arg138*						p.R138*	NM_005232	NP_005223	P21709	EPHA1_HUMAN			3	499	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	138			Extracellular (Potential).		A1L3V3|B5A966|B5A967|Q15405	Nonsense_Mutation	SNP	ENST00000275815.3	37	c.412C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653366	0.96724	.	.	ENSG00000146904	ENST00000275815	.	.	.	4.63	4.63	0.57726	.	0.000000	0.47093	D	0.000257	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8453	0.78883	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000275815:R138X	R	-	1	2	EPHA1	142808559	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.775000	0.91772	2.402000	0.81655	0.655000	0.94253	CGA		0.592	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
ATP6V1C1	528	broad.mit.edu	37	8	104075258	104075258	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr8:104075258C>G	ENST00000395862.3	+	9	876	c.717C>G	c.(715-717)caC>caG	p.H239Q	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.H164Q|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.H164Q|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.H239Q	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	239					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			ACTTCAGACACAAAGCCAGAG	0.328																																						uc003ykz.3																			0					0						c.(715-717)CAC>CAG		ATPase, H+ transporting, lysosomal V1 subunit							87.0	89.0	89.0					8																	104075258		2203	4300	6503	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104075258C>G	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.717C>G	8.37:g.104075258C>G	ENSP00000379203:p.His239Gln					ATP6V1C1_uc010mbz.2_Missense_Mutation_p.H164Q|ATP6V1C1_uc003yla.2_Missense_Mutation_p.H239Q|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.H164Q	p.H239Q	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		9	962	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		239						Missense_Mutation	SNP	ENST00000395862.3	37	c.717C>G	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244439	0.22796	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.14	2.97	0.34412	.	0.046056	0.85682	D	0.000000	T	0.28134	0.0694	L	0.31207	0.915	0.41946	D	0.99063	B	0.10296	0.003	B	0.13407	0.009	T	0.06991	-1.0796	10	0.12430	T	0.62	.	12.3378	0.55077	0.0:0.7831:0.0:0.2169	.	239	P21283	VATC1_HUMAN	Q	164;239;164;239	ENSP00000428204:H164Q;ENSP00000379203:H239Q;ENSP00000430129:H164Q;ENSP00000430282:H239Q	ENSP00000379203:H239Q	H	+	3	2	ATP6V1C1	104144434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.952000	0.40343	1.156000	0.42514	0.655000	0.94253	CAC		0.328	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695	
LRRC6	23639	broad.mit.edu	37	8	133645122	133645122	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr8:133645122C>T	ENST00000519595.1	-	5	615	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	LRRC6_ENST00000518642.1_Missense_Mutation_p.E173K|LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000250173.1_Missense_Mutation_p.E173K			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	173					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGATCTTTTTCCTGCTCTCTG	0.398																																						uc003ytk.2																			0				ovary(1)|kidney(1)	2						c.(517-519)GAA>AAA		leucine rich repeat containing 6							266.0	234.0	245.0					8																	133645122		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133645122C>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.517G>A	8.37:g.133645122C>T	ENSP00000429791:p.Glu173Lys					LRRC6_uc003ytl.2_RNA	p.E173K	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		5	591	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		173					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.517G>A		.	.	.	.	.	.	.	.	.	.	C	19.26	3.792572	0.70452	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.55930	0.65;0.49;0.65	5.23	5.23	0.72850	.	0.095113	0.64402	D	0.000001	T	0.66307	0.2776	M	0.81497	2.545	0.58432	D	0.999997	P	0.51653	0.947	P	0.50934	0.654	T	0.68288	-0.5448	10	0.39692	T	0.17	-31.2261	18.1499	0.89671	0.0:1.0:0.0:0.0	.	173	Q86X45	LRRC6_HUMAN	K	173	ENSP00000429791:E173K;ENSP00000428610:E173K;ENSP00000250173:E173K	ENSP00000250173:E173K	E	-	1	0	LRRC6	133714304	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	5.943000	0.70211	2.601000	0.87937	0.555000	0.69702	GAA		0.398	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472	
CDKN2B	1030	broad.mit.edu	37	9	22006044	22006044	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr9:22006044G>T	ENST00000276925.6	-	2	768	c.359C>A	c.(358-360)gCc>gAc	p.A120D	CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	120					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CCGCTCCTCGGCCAAGTCCAC	0.701																																						uc003zpo.2																			2	Whole gene deletion(2)		lung(2)	lung(1)	1						c.(358-360)GCC>GAC		cyclin-dependent kinase inhibitor 2B isoform 1							14.0	16.0	15.0					9																	22006044		2192	4274	6466	SO:0001583	missense	1030	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System			cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22006044G>T	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.359C>A	9.37:g.22006044G>T	ENSP00000276925:p.Ala120Asp					MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR	p.A120D	NM_004936	NP_004927	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	2	719	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	120			ANK 4.		O15125|Q6FI09	Missense_Mutation	SNP	ENST00000276925.6	37	c.359C>A	CCDS6512.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168736	0.94768	.	.	ENSG00000147883	ENST00000276925	D	0.82255	-1.59	4.79	4.79	0.61399	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96009	0.9000	10	0.87932	D	0	-6.6976	15.3702	0.74557	0.0:0.0:1.0:0.0	.	120	P42772	CDN2B_HUMAN	D	120	ENSP00000276925:A120D	ENSP00000276925:A120D	A	-	2	0	CDKN2B	21996044	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.211000	0.89754	2.461000	0.83175	0.655000	0.94253	GCC		0.701	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2	NM_004936	
CDKN2B	1030	broad.mit.edu	37	9	22006068	22006068	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr9:22006068C>A	ENST00000276925.6	-	2	744	c.335G>T	c.(334-336)tGg>tTg	p.W112L	CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	112					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CAGACGACCCCAGGCATCGCG	0.726																																						uc003zpo.2																			2	Whole gene deletion(2)		lung(2)	lung(1)	1						c.(334-336)TGG>TTG		cyclin-dependent kinase inhibitor 2B isoform 1							15.0	18.0	17.0					9																	22006068		2190	4281	6471	SO:0001583	missense	1030	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System			cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22006068C>A	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.335G>T	9.37:g.22006068C>A	ENSP00000276925:p.Trp112Leu					MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR	p.W112L	NM_004936	NP_004927	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	2	695	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	112			ANK 4.		O15125|Q6FI09	Missense_Mutation	SNP	ENST00000276925.6	37	c.335G>T	CCDS6512.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903011	0.33628	.	.	ENSG00000147883	ENST00000276925	D	0.94000	-3.33	4.63	3.66	0.41972	Ankyrin repeat-containing domain (4);	0.502195	0.23058	N	0.052403	T	0.81336	0.4801	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.74535	-0.3633	10	0.08599	T	0.76	-11.1138	9.3283	0.38005	0.319:0.681:0.0:0.0	.	112	P42772	CDN2B_HUMAN	L	112	ENSP00000276925:W112L	ENSP00000276925:W112L	W	-	2	0	CDKN2B	21996068	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	-0.059000	0.11731	2.384000	0.81235	0.655000	0.94253	TGG		0.726	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2	NM_004936	
OTC	5009	broad.mit.edu	37	X	38260629	38260629	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chrX:38260629T>C	ENST00000039007.4	+	5	640	c.488T>C	c.(487-489)cTg>cCg	p.L163P	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	163					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ATCAATGGGCTGTCAGATTTG	0.408																																						uc004def.3																			0				ovary(1)|breast(1)	2						c.(487-489)CTG>CCG		ornithine carbamoyltransferase precursor	L-Citrulline(DB00155)|L-Ornithine(DB00129)						154.0	113.0	127.0					X																	38260629		2202	4300	6502	SO:0001583	missense	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38260629T>C	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.488T>C	X.37:g.38260629T>C	ENSP00000039007:p.Leu163Pro						p.L163P	NM_000531	NP_000522	P00480	OTC_HUMAN			5	702	+			163					A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	c.488T>C	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410636	0.83340	.	.	ENSG00000036473	ENST00000039007	D	0.99226	-5.59	5.97	5.97	0.96955	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97083	0.9785	10	0.87932	D	0	-4.3603	15.388	0.74718	0.0:0.0:0.0:1.0	.	163	P00480	OTC_HUMAN	P	163	ENSP00000039007:L163P	ENSP00000039007:L163P	L	+	2	0	OTC	38145573	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.649000	0.83500	2.018000	0.59344	0.486000	0.48141	CTG		0.408	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		
HUWE1	10075	broad.mit.edu	37	X	53569470	53569470	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chrX:53569470G>A	ENST00000342160.3	-	73	11867	c.11410C>T	c.(11410-11412)Cgg>Tgg	p.R3804W	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.R3804W			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3804					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTCCCTCCGGACAGACGCC	0.502																																						uc004dsp.2																			0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(11410-11412)CGG>TGG		HECT, UBA and WWE domain containing 1							116.0	93.0	100.0					X																	53569470		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53569470G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11410C>T	X.37:g.53569470G>A	ENSP00000340648:p.Arg3804Trp					HUWE1_uc004dsn.2_Missense_Mutation_p.R2612W|HUWE1_uc004dsq.1_Missense_Mutation_p.R104W	p.R3804W	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			74	11812	-			3804					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.11410C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.00|16.00	2.998054|2.998054	0.54147|0.54147	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.37584	.|1.19;1.19	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|1.740670	.|0.02794	.|N	.|0.122331	T|T	0.49064|0.49064	0.1535|0.1535	N|N	0.22421|0.22421	0.69|0.69	0.52099|0.52099	D|D	0.999943|0.999943	.|D;D;D	.|0.71674	.|0.996;0.997;0.998	.|P;P;P	.|0.56916	.|0.559;0.556;0.809	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.72032	.|D	.|0.01	.|.	15.8505|15.8505	0.78927|0.78927	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|626;3804;3788	.|Q5H935;Q7Z6Z7;Q7Z6Z7-2	.|.;HUWE1_HUMAN;.	L|W	2837;626|3804	.|ENSP00000340648:R3804W;ENSP00000262854:R3804W	.|ENSP00000262854:R3804W	P|R	-|-	2|1	0|2	HUWE1|HUWE1	53586195|53586195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.863000|0.863000	0.49368|0.49368	8.569000|8.569000	0.90744|0.90744	2.457000|2.457000	0.83068|0.83068	0.544000|0.544000	0.68410|0.68410	CCG|CGG		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
