#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
FUCA1	2517	broad.mit.edu	37	1	24189688	24189688	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:24189688C>T	ENST00000374479.3	-	3	605	c.598G>A	c.(598-600)Ggc>Agc	p.G200S		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	200					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GTTTTGAAGCCATTTTTCTTA	0.388																																						uc001bie.2																			0				breast(1)	1						c.(598-600)GGC>AGC		fucosidase, alpha-L-1, tissue precursor							124.0	115.0	118.0					1																	24189688		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24189688C>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.598G>A	1.37:g.24189688C>T	ENSP00000363603:p.Gly200Ser					FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA	p.G200S	NM_000147	NP_000138	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	3	643	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	200					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.598G>A	CCDS244.2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738009	0.30774	.	.	ENSG00000179163	ENST00000374479	T	0.57595	0.39	5.43	0.817	0.18773	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.399736	0.32416	N	0.006136	T	0.41465	0.1160	L	0.55481	1.735	0.48762	D	0.999709	B	0.18461	0.028	B	0.26310	0.068	T	0.22208	-1.0223	10	0.07030	T	0.85	-10.4709	10.2914	0.43599	0.0:0.6521:0.0:0.3479	.	200	P04066	FUCO_HUMAN	S	200	ENSP00000363603:G200S	ENSP00000363603:G200S	G	-	1	0	FUCA1	24062275	1.000000	0.71417	0.997000	0.53966	0.692000	0.40212	2.100000	0.41777	0.285000	0.22329	0.650000	0.86243	GGC		0.388	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147	
FUCA1	2517	broad.mit.edu	37	1	24189727	24189727	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:24189727C>T	ENST00000374479.3	-	3	566	c.559G>A	c.(559-561)Gag>Aag	p.E187K		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	187					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TGGAACCACTCTAAGAGTGAG	0.358																																						uc001bie.2																			0				breast(1)	1						c.(559-561)GAG>AAG		fucosidase, alpha-L-1, tissue precursor							98.0	91.0	93.0					1																	24189727		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24189727C>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.559G>A	1.37:g.24189727C>T	ENSP00000363603:p.Glu187Lys					FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA	p.E187K	NM_000147	NP_000138	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	3	604	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	187					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.559G>A	CCDS244.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154417	0.78114	.	.	ENSG00000179163	ENST00000374479	T	0.58358	0.34	5.43	5.43	0.79202	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	H	0.98027	4.13	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.89290	0.3618	10	0.87932	D	0	-9.1117	19.4391	0.94811	0.0:1.0:0.0:0.0	.	187	P04066	FUCO_HUMAN	K	187	ENSP00000363603:E187K	ENSP00000363603:E187K	E	-	1	0	FUCA1	24062314	1.000000	0.71417	0.933000	0.37362	0.039000	0.13416	7.169000	0.77578	2.823000	0.97156	0.650000	0.86243	GAG		0.358	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147	
LRRC41	10489	broad.mit.edu	37	1	46745257	46745257	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:46745257C>G	ENST00000343304.6	-	8	2335	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	684					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGCGCTTCTCAAACAGACGG	0.552																																						uc001cpn.2																			0				ovary(2)|breast(1)|pancreas(1)	4						c.(2050-2052)GAG>CAG		MUF1 protein							97.0	111.0	106.0					1																	46745257		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46745257C>G	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2050G>C	1.37:g.46745257C>G	ENSP00000343298:p.Glu684Gln					LRRC41_uc010omb.1_Missense_Mutation_p.E684Q	p.E684Q	NM_006369	NP_006360	Q15345	LRC41_HUMAN			8	2094	-	Acute lymphoblastic leukemia(166;0.155)		684					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.2050G>C	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.221881	0.58560	.	.	ENSG00000132128	ENST00000343304	T	0.53640	0.61	4.57	4.57	0.56435	.	0.177995	0.38492	N	0.001668	T	0.54886	0.1886	N	0.19112	0.55	0.42626	D	0.993368	D;D	0.76494	0.999;0.994	D;D	0.80764	0.994;0.909	T	0.60821	-0.7187	10	0.52906	T	0.07	-28.3577	17.5361	0.87832	0.0:1.0:0.0:0.0	.	684;684	Q15345-3;Q15345	.;LRC41_HUMAN	Q	684	ENSP00000343298:E684Q	ENSP00000343298:E684Q	E	-	1	0	LRRC41	46517844	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.131000	0.64751	2.368000	0.80403	0.561000	0.74099	GAG		0.552	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369	
IFI16	3428	broad.mit.edu	37	1	158986412	158986412	+	Silent	SNP	C	C	G	rs201986350		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:158986412C>G	ENST00000295809.7	+	4	726	c.471C>G	c.(469-471)gcC>gcG	p.A157A	IFI16_ENST00000340979.6_Silent_p.A157A|IFI16_ENST00000448393.2_Silent_p.A157A|IFI16_ENST00000359709.3_Intron|IFI16_ENST00000368131.4_Silent_p.A157A|IFI16_ENST00000430894.2_Intron|IFI16_ENST00000368132.3_Silent_p.A157A			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	157					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CTGCAGGAGCCGGCATGTCCA	0.522																																						uc001ftf.1																			0				ovary(1)	1						c.(469-471)GCC>GCG		interferon, gamma-inducible protein 16							111.0	99.0	103.0					1																	158986412		2203	4300	6503	SO:0001819	synonymous_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158986412C>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.471C>G	1.37:g.158986412C>G						IFI16_uc001ftg.2_Silent_p.A157A|IFI16_uc010pis.1_Intron	p.A157A	NM_005531	NP_005522	Q16666	IF16_HUMAN			5	1078	+	all_hematologic(112;0.0429)		157					B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37	c.471C>G																																																																																					0.522	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531	
NR5A2	2494	broad.mit.edu	37	1	200017711	200017711	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:200017711G>C	ENST00000367362.3	+	5	1121	c.875G>C	c.(874-876)aGt>aCt	p.S292T	NR5A2_ENST00000544748.1_Missense_Mutation_p.S220T|NR5A2_ENST00000236914.3_Missense_Mutation_p.S246T	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	292					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TATATGGATAGTTACCAGACG	0.488																																					Melanoma(179;1138 2773 15678 26136)	uc001gvb.2																			0				large_intestine(1)|ovary(1)	2						c.(874-876)AGT>ACT		nuclear receptor subfamily 5, group A, member 2							73.0	73.0	73.0					1																	200017711		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017711G>C	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.875G>C	1.37:g.200017711G>C	ENSP00000356331:p.Ser292Thr					NR5A2_uc001gvc.2_Missense_Mutation_p.S246T|NR5A2_uc009wzh.2_Missense_Mutation_p.S252T|NR5A2_uc010pph.1_Missense_Mutation_p.S220T	p.S292T	NM_205860	NP_995582	O00482	NR5A2_HUMAN			5	1081	+	Prostate(682;0.19)		292					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.875G>C	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.875|5.875	0.345602|0.345602	0.11126|0.11126	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480|ENST00000367357	D;D;D|.	0.94330|.	-3.34;-3.4;-3.38|.	5.33|5.33	4.41|4.41	0.53225|0.53225	Nuclear hormone receptor, ligand-binding (1);|.	0.388050|.	0.34777|.	N|.	0.003688|.	T|T	0.24928|0.24928	0.0605|0.0605	N|N	0.03608|0.03608	-0.345|-0.345	0.26474|0.26474	N|N	0.975238|0.975238	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.15150|0.15150	-1.0447|-1.0447	9|5	.|.	.|.	.|.	.|.	16.4106|16.4106	0.83712|0.83712	0.0:0.1316:0.8683:0.0|0.0:0.1316:0.8683:0.0	.|.	246;292|.	F1D8R9;O00482|.	.;NR5A2_HUMAN|.	T|L	292;246;220;212|213	ENSP00000356331:S292T;ENSP00000236914:S246T;ENSP00000439116:S220T|.	.|.	S|V	+|+	2|1	0|0	NR5A2|NR5A2	198284334|198284334	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.971000|0.971000	0.66376|0.66376	4.463000|4.463000	0.60128|0.60128	1.378000|1.378000	0.46305|0.46305	0.655000|0.655000	0.94253|0.94253	AGT|GTT		0.488	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2		
OR2T3	343173	broad.mit.edu	37	1	248637231	248637231	+	Missense_Mutation	SNP	T	T	C	rs369559398		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:248637231T>C	ENST00000359594.2	+	1	605	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAGCTCTCCTGCTCTGACGT	0.517																																						uc001iel.1																			0				skin(1)	1						c.(580-582)TGC>CGC		olfactory receptor, family 2, subfamily T,		T	ARG/CYS	1,4307		0,1,2153	140.0	116.0	124.0		580	2.4	0.0	1		124	0,8526		0,0,4263	no	missense	OR2T3	NM_001005495.1	180	0,1,6416	CC,CT,TT		0.0,0.0232,0.0078	probably-damaging	194/319	248637231	1,12833	2154	4263	6417	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637231T>C		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.580T>C	1.37:g.248637231T>C	ENSP00000352604:p.Cys194Arg						p.C194R	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	580	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		194			Extracellular (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.580T>C	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	t	16.74	3.207838	0.58343	2.32E-4	0.0	ENSG00000196539	ENST00000359594	T	0.00460	7.27	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02970	0.0088	H	0.99444	4.57	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.01578	-1.1320	9	0.87932	D	0	.	9.3109	0.37903	0.0:0.0:0.0:1.0	.	194	Q8NH03	OR2T3_HUMAN	R	194	ENSP00000352604:C194R	ENSP00000352604:C194R	C	+	1	0	OR2T3	246703854	1.000000	0.71417	0.006000	0.13384	0.313000	0.28021	4.782000	0.62396	0.841000	0.35020	0.156000	0.16432	TGC		0.517	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495	
OR5AR1	219493	broad.mit.edu	37	11	56431364	56431364	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:56431364T>G	ENST00000302969.2	+	1	227	c.203T>G	c.(202-204)tTt>tGt	p.F68C		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AACCTCTCCTTTGTTGACCTG	0.463																																						uc010rjm.1																			0					0						c.(202-204)TTT>TGT		olfactory receptor, family 5, subfamily AR,							244.0	245.0	245.0					11																	56431364		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431364T>G	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.203T>G	11.37:g.56431364T>G	ENSP00000302639:p.Phe68Cys						p.F68C	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	203	+			68			Helical; Name=2; (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.203T>G	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.356764	0.41801	.	.	ENSG00000172459	ENST00000302969	T	0.01005	5.45	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.139361	0.33553	N	0.004792	T	0.02230	0.0069	M	0.78916	2.43	0.09310	N	0.999991	P	0.51791	0.948	B	0.42422	0.387	T	0.38351	-0.9665	10	0.62326	D	0.03	.	14.323	0.66499	0.0:0.0:0.0:1.0	.	68	Q8NGP9	O5AR1_HUMAN	C	68	ENSP00000302639:F68C	ENSP00000302639:F68C	F	+	2	0	OR5AR1	56187940	0.848000	0.29623	0.996000	0.52242	0.928000	0.56348	5.626000	0.67777	2.173000	0.68751	0.467000	0.42956	TTT		0.463	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730	
OSBP	5007	broad.mit.edu	37	11	59376014	59376014	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:59376014G>A	ENST00000263847.1	-	3	1244	c.765C>T	c.(763-765)atC>atT	p.I255I		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	255					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGACCTGTTTGATCTTTTCAT	0.478																																						uc001noc.1																			0				large_intestine(1)	1						c.(763-765)ATC>ATT		oxysterol binding protein							188.0	164.0	172.0					11																	59376014		2201	4295	6496	SO:0001819	synonymous_variant	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59376014G>A	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.765C>T	11.37:g.59376014G>A							p.I255I	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	3	1245	-		all_epithelial(135;0.000236)	255					Q6P524	Silent	SNP	ENST00000263847.1	37	c.765C>T	CCDS7974.1																																																																																				0.478	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1		
CTSF	8722	broad.mit.edu	37	11	66333870	66333870	+	Missense_Mutation	SNP	G	G	C	rs568250930	byFrequency	TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:66333870G>C	ENST00000310325.5	-	5	722	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	205					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGCGCCACCGGGCTTCTGAG	0.587																																						uc001oip.2																			0					0						c.(613-615)CGG>GGG		cathepsin F precursor							40.0	38.0	39.0					11																	66333870		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66333870G>C	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.613C>G	11.37:g.66333870G>C	ENSP00000310832:p.Arg205Gly						p.R205G	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			5	703	-			205					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.613C>G	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.25|14.25	2.478735|2.478735	0.44044|0.44044	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000524994|ENST00000310325;ENST00000526010	.|D;T	.|0.85861	.|-2.04;0.76	5.67|5.67	-1.36|-1.36	0.09085|0.09085	.|Proteinase inhibitor I29, cathepsin propeptide (2);	.|0.866206	.|0.10174	.|N	.|0.706785	T|T	0.73860|0.73860	0.3641|0.3641	N|N	0.20357|0.20357	0.565|0.565	0.20563|0.20563	N|N	0.99989|0.99989	.|B	.|0.17667	.|0.023	.|B	.|0.27500	.|0.08	T|T	0.57400|0.57400	-0.7818|-0.7818	5|10	.|0.27082	.|T	.|0.32	.|.	10.1422|10.1422	0.42742|0.42742	0.0:0.4121:0.2165:0.3714|0.0:0.4121:0.2165:0.3714	.|.	.|205	.|Q9UBX1	.|CATF_HUMAN	R|G	52|205;113	.|ENSP00000310832:R205G;ENSP00000435822:R113G	.|ENSP00000310832:R205G	P|R	-|-	2|1	0|2	CTSF|CTSF	66090446|66090446	0.275000|0.275000	0.24201|0.24201	0.870000|0.870000	0.34147|0.34147	0.821000|0.821000	0.46438|0.46438	-0.003000|-0.003000	0.12901|0.12901	-0.551000|-0.551000	0.06175|0.06175	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.587	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
WNT11	7481	broad.mit.edu	37	11	75907584	75907584	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:75907584G>A	ENST00000322563.3	-	2	386	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	88					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGTTCCAGCGCATGTCGGCA	0.632																																						uc001oxe.2																			0				lung(1)|skin(1)	2						c.(262-264)CGC>TGC		wingless-type MMTV integration site family,							81.0	89.0	86.0					11																	75907584		2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75907584G>A	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.262C>T	11.37:g.75907584G>A	ENSP00000325526:p.Arg88Cys					WNT11_uc001oxf.1_Missense_Mutation_p.R88C	p.R88C	NM_004626	NP_004617	O96014	WNT11_HUMAN			2	385	-			88					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.262C>T	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679530	0.88542	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.81163	-1.46	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.93096	0.7802	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95126	0.8251	10	0.87932	D	0	.	14.052	0.64742	0.0:0.0:0.8489:0.1511	.	88	O96014	WNT11_HUMAN	C	88	ENSP00000325526:R88C	ENSP00000325526:R88C	R	-	1	0	WNT11	75585232	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.394000	0.52551	2.334000	0.79466	0.655000	0.94253	CGC		0.632	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626	
SLC2A14	144195	broad.mit.edu	37	12	7970576	7970576	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:7970576C>A	ENST00000543909.1	-	15	1954	c.1195G>T	c.(1195-1197)Gcc>Tcc	p.A399S	SLC2A14_ENST00000542546.1_Missense_Mutation_p.A290S|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A376S|SLC2A14_ENST00000542505.1_Missense_Mutation_p.A40S|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A414S|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A376S|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A399S|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A290S			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	399					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TCAAAACAGGCCACAAAGACC	0.498																																						uc001qtk.2																			0				ovary(1)	1						c.(1195-1197)GCC>TCC		glucose transporter 14							42.0	44.0	43.0					12																	7970576		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7970576C>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1195G>T	12.37:g.7970576C>A	ENSP00000440480:p.Ala399Ser					SLC2A14_uc001qtl.2_Missense_Mutation_p.A376S|SLC2A14_uc001qtm.2_Missense_Mutation_p.A376S|SLC2A14_uc010sgg.1_Missense_Mutation_p.A290S|SLC2A14_uc001qtn.2_Missense_Mutation_p.A399S|SLC2A14_uc001qto.2_Missense_Mutation_p.A34S|SLC2A14_uc010sgh.1_Missense_Mutation_p.A414S	p.A399S	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	15	1988	-			399			Helical; Name=10; (Potential).		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.1195G>T	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843058	0.32606	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	3.31	3.31	0.37934	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.82250	0.4996	M	0.83312	2.635	0.49915	D	0.99983	P;P;P;P	0.41498	0.752;0.752;0.532;0.587	P;B;B;B	0.44647	0.456;0.401;0.155;0.349	T	0.80417	-0.1391	10	0.21014	T	0.42	.	12.4172	0.55500	0.0:1.0:0.0:0.0	.	414;290;376;399	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	S	376;399;376;40;399;290;290;414	ENSP00000340450:A376S;ENSP00000440480:A399S;ENSP00000407287:A376S;ENSP00000438484:A40S;ENSP00000379834:A399S;ENSP00000440492:A290S;ENSP00000443903:A290S;ENSP00000445929:A414S	ENSP00000340450:A376S	A	-	1	0	SLC2A14	7861843	1.000000	0.71417	0.993000	0.49108	0.250000	0.25880	6.898000	0.75676	1.546000	0.49388	0.195000	0.17529	GCC		0.498	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	
WIF1	11197	broad.mit.edu	37	12	65460443	65460443	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:65460443G>T	ENST00000286574.4	-	6	1082	c.708C>A	c.(706-708)ttC>ttA	p.F236L		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	236	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TCACTCCATAGAATCCAGGTG	0.373			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.2				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				ovary(2)|lung(1)|skin(1)	4						c.(706-708)TTC>TTA		WNT inhibitory factor 1 precursor							78.0	77.0	78.0					12																	65460443		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65460443G>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.708C>A	12.37:g.65460443G>T	ENSP00000286574:p.Phe236Leu						p.F236L	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	6	853	-			236			EGF-like 2.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.708C>A	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993322	0.54041	.	.	ENSG00000156076	ENST00000286574	T	0.56444	0.46	4.99	4.99	0.66335	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.065347	0.64402	D	0.000004	T	0.52948	0.1766	M	0.81802	2.56	0.47862	D	0.999537	B	0.27559	0.181	B	0.28011	0.085	T	0.52457	-0.8573	9	.	.	.	.	9.8936	0.41304	0.1544:0.0:0.8456:0.0	.	236	Q9Y5W5	WIF1_HUMAN	L	236	ENSP00000286574:F236L	.	F	-	3	2	WIF1	63746710	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.192000	0.50989	2.709000	0.92574	0.655000	0.94253	TTC		0.373	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		
TRHDE	29953	broad.mit.edu	37	12	72666917	72666917	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:72666917C>T	ENST00000261180.4	+	1	455	c.359C>T	c.(358-360)aCg>aTg	p.T120M	TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	120					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCGGGGACCACGTCGGCCCAG	0.741																																						uc010stv.1																			0					0						c.(-209--205)ACGTG>ACATG		Homo sapiens thyrotropin-releasing hormone degrading enzyme, mRNA (cDNA clone IMAGE:4992272).							8.0	10.0	10.0					12																	72666917		2123	4129	6252	SO:0001583	missense	283392							g.chr12:72666917C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.359C>T	12.37:g.72666917C>T	ENSP00000261180:p.Thr120Met					TRHDE_uc001sxa.2_Missense_Mutation_p.T120M		NR_026836						1	373	-								A5PL19|Q6UWJ4	Translation_Start_Site	SNP	ENST00000261180.4	37	c.-207G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104697	0.20632	.	.	ENSG00000072657	ENST00000261180	T	0.01369	4.97	4.97	4.02	0.46733	.	0.527792	0.15991	N	0.234808	T	0.01061	0.0035	N	0.08118	0	0.19775	N	0.999954	B	0.19935	0.04	B	0.06405	0.002	T	0.49495	-0.8934	10	0.48119	T	0.1	.	10.4776	0.44674	0.0:0.8027:0.1973:0.0	.	120	Q9UKU6	TRHDE_HUMAN	M	120	ENSP00000261180:T120M	ENSP00000261180:T120M	T	+	2	0	TRHDE	70953184	0.890000	0.30428	0.955000	0.39395	0.317000	0.28152	1.859000	0.39418	2.274000	0.75844	0.514000	0.50259	ACG		0.741	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
SCARB1	949	broad.mit.edu	37	12	125296422	125296422	+	Silent	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:125296422C>T	ENST00000415380.2	-	5	845	c.720G>A	c.(718-720)ctG>ctA	p.L240L	SCARB1_ENST00000376788.1_Silent_p.L140L|SCARB1_ENST00000546215.1_Silent_p.L240L|SCARB1_ENST00000541205.1_Silent_p.L199L|SCARB1_ENST00000544327.1_Silent_p.L186L|SCARB1_ENST00000540495.1_Silent_p.L203L|SCARB1_ENST00000339570.5_Silent_p.L240L|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Silent_p.L240L			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	240					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TCACCTTGCTCAGCCCGTTCC	0.652																																						uc001ugo.3																			0				kidney(1)	1						c.(718-720)CTG>CTA		scavenger receptor class B, member 1 isoform 1	Phosphatidylserine(DB00144)						86.0	61.0	69.0					12																	125296422		2203	4300	6503	SO:0001819	synonymous_variant	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125296422C>T	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.720G>A	12.37:g.125296422C>T						SCARB1_uc001ugn.3_Silent_p.L240L|SCARB1_uc001ugm.3_Silent_p.L240L|SCARB1_uc010tbd.1_Silent_p.L240L|SCARB1_uc010tbe.1_Silent_p.L199L|SCARB1_uc001ugp.3_Silent_p.L240L	p.L240L	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	5	973	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		240			Extracellular (Potential).		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	ENST00000415380.2	37	c.720G>A																																																																																					0.652	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505	
TMEM132B	114795	broad.mit.edu	37	12	126138507	126138507	+	Nonsense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:126138507G>T	ENST00000299308.3	+	9	2496	c.2488G>T	c.(2488-2490)Gaa>Taa	p.E830*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.E342*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	830						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCAGTCCAGGAATGGTTCCA	0.488																																						uc001uhe.1																			0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2488-2490)GAA>TAA		transmembrane protein 132B							66.0	68.0	67.0					12																	126138507		2004	4153	6157	SO:0001587	stop_gained	114795					integral to membrane		g.chr12:126138507G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2488G>T	12.37:g.126138507G>T	ENSP00000299308:p.Glu830*					TMEM132B_uc001uhf.1_Nonsense_Mutation_p.E342*	p.E830*	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2496	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		830			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Nonsense_Mutation	SNP	ENST00000299308.3	37	c.2488G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316622	0.95682	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	.	.	.	5.54	4.65	0.58169	.	0.088565	0.48767	D	0.000170	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	16.5642	0.84574	0.0:0.1304:0.8696:0.0	.	.	.	.	X	830;342	.	ENSP00000299308:E830X	E	+	1	0	TMEM132B	124704460	1.000000	0.71417	0.993000	0.49108	0.590000	0.36582	4.511000	0.60462	1.334000	0.45468	0.655000	0.94253	GAA		0.488	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
GPC6	10082	broad.mit.edu	37	13	94680086	94680086	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr13:94680086A>G	ENST00000377047.4	+	4	1430	c.815A>G	c.(814-816)aAc>aGc	p.N272S	RNA5SP35_ENST00000391257.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	272					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TACTGTCTCAACGTCATGAAG	0.527																																						uc001vlt.2																			0					0						c.(814-816)AAC>AGC		glypican 6 precursor							162.0	147.0	152.0					13																	94680086		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94680086A>G	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.815A>G	13.37:g.94680086A>G	ENSP00000366246:p.Asn272Ser					GPC6_uc010tig.1_Missense_Mutation_p.N272S	p.N272S	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			4	1447	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	272					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.815A>G	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401313	0.83120	.	.	ENSG00000183098	ENST00000377047	T	0.57595	0.39	5.92	5.92	0.95590	Glypican, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.93594	3.435	0.53005	D	0.999966	D;D	0.89917	0.994;1.0	D;D	0.91635	0.967;0.999	D	0.84998	0.0898	10	0.62326	D	0.03	.	16.3631	0.83280	1.0:0.0:0.0:0.0	.	272;272	B4E2M1;Q9Y625	.;GPC6_HUMAN	S	272	ENSP00000366246:N272S	ENSP00000366246:N272S	N	+	2	0	GPC6	93478087	1.000000	0.71417	0.989000	0.46669	0.680000	0.39746	9.303000	0.96183	2.266000	0.75297	0.533000	0.62120	AAC		0.527	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708	
FANCM	57697	broad.mit.edu	37	14	45620712	45620712	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:45620712A>T	ENST00000267430.5	+	5	1116	c.1031A>T	c.(1030-1032)aAc>aTc	p.N344I	FANCM_ENST00000556036.1_Missense_Mutation_p.N344I|FANCM_ENST00000542564.2_Missense_Mutation_p.N318I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	344					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTAGGAAAAACCCATCTCCG	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3																			0				ovary(3)|lung(2)|breast(2)	7						c.(1030-1032)AAC>ATC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							63.0	65.0	64.0					14																	45620712		2202	4295	6497	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45620712A>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1031A>T	14.37:g.45620712A>T	ENSP00000267430:p.Asn344Ile					FANCM_uc001wwc.2_Missense_Mutation_p.N344I|FANCM_uc010anf.2_Missense_Mutation_p.N318I	p.N344I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			5	1130	+			344					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1031A>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273442	0.59649	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.13901	2.6;2.55;2.55	5.41	5.41	0.78517	.	0.132156	0.64402	D	0.000002	T	0.32852	0.0843	M	0.82323	2.585	0.50467	D	0.999873	P;D;B	0.58268	0.865;0.982;0.108	B;P;B	0.52957	0.306;0.714;0.089	T	0.22417	-1.0217	10	0.66056	D	0.02	.	15.0946	0.72223	1.0:0.0:0.0:0.0	.	318;344;344	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	I	344;344;318	ENSP00000450596:N344I;ENSP00000267430:N344I;ENSP00000442493:N318I	ENSP00000267430:N344I	N	+	2	0	FANCM	44690462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.862000	0.87013	2.041000	0.60428	0.533000	0.62120	AAC		0.318	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
ACTN1	87	broad.mit.edu	37	14	69349623	69349623	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:69349623G>A	ENST00000193403.6	-	15	2168	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	ACTN1_ENST00000394419.4_Silent_p.I595I|ACTN1_ENST00000538545.2_Silent_p.I595I|ACTN1_ENST00000438964.2_Silent_p.I595I|ACTN1_ENST00000376839.3_Silent_p.I530I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	595	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCTGAGGCGTGATGGTTGTGT	0.517																																						uc001xkl.2																			0				central_nervous_system(1)	1						c.(1783-1785)ATC>ATT		actinin, alpha 1 isoform b							203.0	161.0	175.0					14																	69349623		2203	4300	6503	SO:0001819	synonymous_variant	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69349623G>A	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1785C>T	14.37:g.69349623G>A						ACTN1_uc001xkk.2_Silent_p.I191I|ACTN1_uc010ttb.1_Silent_p.I530I|ACTN1_uc001xkm.2_Silent_p.I595I|ACTN1_uc001xkn.2_Silent_p.I595I|ACTN1_uc010ttc.1_Silent_p.I180I	p.I595I	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	15	2095	-			595			Interaction with DDN.|Spectrin 3.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	c.1785C>T	CCDS9792.1																																																																																				0.517	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102	
DICER1	23405	broad.mit.edu	37	14	95557629	95557629	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:95557629T>C	ENST00000526495.1	-	27	5729	c.5438A>G	c.(5437-5439)gAg>gGg	p.E1813G	DICER1_ENST00000343455.3_Missense_Mutation_p.E1813G|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000556045.1_Missense_Mutation_p.E711G|DICER1_ENST00000527414.1_Missense_Mutation_p.E1813G|DICER1_ENST00000393063.1_Missense_Mutation_p.E1813G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1813	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		E -> G (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|E -> K (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|E -> Q (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.E1813G(1)|p.E1813A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGCAAGCGACTCAAAAATATC	0.458			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			2	Substitution - Missense(2)		endometrium(2)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(5437-5439)GAG>GGG		dicer1							225.0	231.0	229.0					14																	95557629		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557629T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5438A>G	14.37:g.95557629T>C	ENSP00000437256:p.Glu1813Gly					DICER1_uc010avh.1_Missense_Mutation_p.E711G|DICER1_uc001ydv.2_Missense_Mutation_p.E1803G|DICER1_uc001ydx.2_Missense_Mutation_p.E1813G	p.E1813G	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	26	5620	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1813	E->A: Decreased activity. Loss of activity; when associated with E-1444.		RNase III 2.	Magnesium or manganese 2.	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5438A>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.916173	0.92249	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.6	5.6	0.85130	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	D	0.96225	0.8769	H	0.99626	4.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98304	1.0520	10	0.87932	D	0	-26.0632	15.7947	0.78401	0.0:0.0:0.0:1.0	.	711;1813	B3KRG4;Q9UPY3	.;DICER_HUMAN	G	1813;1813;1813;1813;711	ENSP00000343745:E1813G;ENSP00000437256:E1813G;ENSP00000376783:E1813G;ENSP00000435681:E1813G;ENSP00000451041:E711G	ENSP00000343745:E1813G	E	-	2	0	DICER1	94627382	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.521000	0.81832	2.106000	0.64143	0.533000	0.62120	GAG		0.458	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
LCTL	197021	broad.mit.edu	37	15	66853375	66853375	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:66853375C>A	ENST00000341509.5	-	6	805	c.674G>T	c.(673-675)gGc>gTc	p.G225V	LCTL_ENST00000537670.1_Missense_Mutation_p.G52V|LCTL_ENST00000563438.1_5'Flank	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	225					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.G225V(3)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTGTACAGGCCGGTGCCGCG	0.602																																						uc002aqc.2																			3	Substitution - Missense(3)		prostate(2)|kidney(1)	ovary(2)	2						c.(673-675)GGC>GTC		lactase-like precursor							64.0	61.0	62.0					15																	66853375		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66853375C>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.674G>T	15.37:g.66853375C>A	ENSP00000343490:p.Gly225Val					LCTL_uc002aqd.3_Missense_Mutation_p.G52V|LCTL_uc010bhw.2_Intron	p.G225V	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN			6	806	-			225			Extracellular (Potential).		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.674G>T	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960240	0.74016	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.52754	0.65;1.49	5.38	5.38	0.77491	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62969	-0.6741	10	0.44086	T	0.13	-35.5197	18.487	0.90833	0.0:1.0:0.0:0.0	.	225	Q6UWM7	LCTL_HUMAN	V	52;225	ENSP00000445419:G52V;ENSP00000343490:G225V	ENSP00000343490:G225V	G	-	2	0	LCTL	64640429	0.998000	0.40836	0.991000	0.47740	0.630000	0.37929	5.425000	0.66470	2.689000	0.91719	0.655000	0.94253	GGC		0.602	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338	
NOX5	79400	broad.mit.edu	37	15	69347743	69347743	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:69347743T>A	ENST00000388866.3	+	15	2110	c.2069T>A	c.(2068-2070)cTg>cAg	p.L690Q	NOX5_ENST00000530406.2_Missense_Mutation_p.L662Q|NOX5_ENST00000455873.3_Missense_Mutation_p.L655Q|NOX5_ENST00000260364.5_Missense_Mutation_p.L672Q|NOX5_ENST00000448182.3_Missense_Mutation_p.L644Q	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	690					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCCATTGGCCTGCAGATGGCC	0.597																																						uc002ars.1																			0				breast(1)|pancreas(1)	2						c.(2068-2070)CTG>CAG		NADPH oxidase, EF-hand calcium binding domain 5							57.0	51.0	53.0					15																	69347743		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69347743T>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2069T>A	15.37:g.69347743T>A	ENSP00000373518:p.Leu690Gln					NOX5_uc002arp.1_Missense_Mutation_p.L672Q|NOX5_uc002arq.1_Missense_Mutation_p.L644Q|NOX5_uc010bid.1_Missense_Mutation_p.L655Q|NOX5_uc002arr.1_Missense_Mutation_p.L662Q|NOX5_uc010bie.1_Missense_Mutation_p.L490Q|NOX5_uc010bif.1_RNA	p.L690Q	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			15	2089	+			690			Extracellular (Potential).		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.2069T>A	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262095	0.59431	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.94931	-3.56;-3.56;-3.56	3.54	3.54	0.40534	Ferric reductase, NAD binding (1);	0.000000	0.56097	D	0.000023	D	0.96824	0.8963	M	0.86028	2.79	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70016	0.958;0.967;0.944	D	0.96942	0.9688	10	0.87932	D	0	-8.8791	11.0823	0.48068	0.0:0.0:0.0:1.0	.	655;690;662	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	Q	655;672;690;662	ENSP00000416828:L655Q;ENSP00000373518:L690Q;ENSP00000432440:L662Q	ENSP00000373518:L690Q	L	+	2	0	NOX5	67134797	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	6.707000	0.74654	1.488000	0.48433	0.418000	0.28097	CTG		0.597	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505	
UNC45A	55898	broad.mit.edu	37	15	91488293	91488293	+	Splice_Site	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:91488293A>G	ENST00000418476.2	+	9	1239	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R	UNC45A_ENST00000394275.2_Splice_Site_p.K385R	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	400					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AACTACATCAAGTAAGGAAGT	0.478																																						uc002bqg.2																			0				ovary(2)	2						c.(1198-1200)AAG>AGG		smooth muscle cell associated protein-1 isoform							64.0	63.0	64.0					15																	91488293		2198	4298	6496	SO:0001630	splice_region_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91488293A>G		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1199+1A>G	15.37:g.91488293A>G						UNC45A_uc002bqd.2_Missense_Mutation_p.K385R|UNC45A_uc010uqr.1_5'Flank	p.K400R	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		9	1539	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		400					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.1199A>G	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242520	0.39598	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.47177	0.85;0.85	5.71	-1.41	0.08941	.	0.442726	0.28901	N	0.013774	T	0.29389	0.0732	N	0.20357	0.565	0.32241	N	0.572653	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16335	-1.0406	10	0.27082	T	0.32	-11.7265	14.146	0.65351	0.3511:0.0:0.6489:0.0	.	400;385	Q9H3U1;A8K6F7	UN45A_HUMAN;.	R	385;400	ENSP00000377816:K385R;ENSP00000407487:K400R	ENSP00000377816:K385R	K	+	2	0	UNC45A	89289297	0.997000	0.39634	0.674000	0.29902	0.927000	0.56198	0.712000	0.25779	-0.498000	0.06632	0.529000	0.55759	AAG		0.478	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671	Missense_Mutation
SNX29	92017	broad.mit.edu	37	16	12145796	12145796	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:12145796G>A	ENST00000566228.1	+	8	910	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	SNX29_ENST00000306030.3_5'Flank|SNX29_ENST00000323433.4_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	281						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTCTGGGGACGTGTTTAAAAA	0.483																																						uc002dbw.1										T					CIITA		PMBL|Hodgkin Lymphona|		0				ovary(1)	1						c.(841-843)GTG>ATG		RUN domain containing 2A							75.0	84.0	81.0					16																	12145796		2197	4300	6497	SO:0001583	missense	84127							g.chr16:12145796G>A	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.841G>A	16.37:g.12145796G>A	ENSP00000456480:p.Val281Met					SNX29_uc002dby.3_5'Flank	p.V281M	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN			8	903	+			281					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.841G>A	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	5.070	0.198495	0.09652	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.91	1.78	0.24846	.	0.808524	0.11367	N	0.571249	T	0.33118	0.0852	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25676	-1.0125	6	0.27785	T	0.31	-10.7545	8.0147	0.30374	0.4679:0.0:0.5321:0.0	.	.	.	.	M	281	.	ENSP00000268271:V281M	V	+	1	0	RUNDC2A	12053297	0.000000	0.05858	0.011000	0.14972	0.100000	0.18952	0.192000	0.17096	0.563000	0.29222	-0.362000	0.07510	GTG		0.483	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1		
AKTIP	64400	broad.mit.edu	37	16	53528141	53528141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:53528141G>A	ENST00000394657.7	-	8	793	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	AKTIP_ENST00000570004.1_Nonsense_Mutation_p.Q207*|AKTIP_ENST00000300245.4_Nonsense_Mutation_p.Q207*	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	207					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TTAAAAAGCTGAATATCTTTT	0.308																																						uc002ehk.2																			0					0						c.(619-621)CAG>TAG		AKT interacting protein							65.0	65.0	65.0					16																	53528141		2198	4300	6498	SO:0001587	stop_gained	64400				apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	g.chr16:53528141G>A	AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.619C>T	16.37:g.53528141G>A	ENSP00000378152:p.Gln207*					AKTIP_uc002ehl.2_Nonsense_Mutation_p.Q207*|AKTIP_uc002ehm.2_Nonsense_Mutation_p.Q207*	p.Q207*	NM_001012398	NP_001012398	Q9H8T0	AKTIP_HUMAN			8	830	-		all_cancers(37;0.14)	207					Q503B1|Q53H38	Nonsense_Mutation	SNP	ENST00000394657.7	37	c.619C>T	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	G	37	6.301269	0.97453	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	.	.	.	5.72	5.72	0.89469	.	0.146783	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-13.1904	20.2406	0.98372	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000300245:Q207X	Q	-	1	0	AKTIP	52085642	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.721000	0.98766	2.857000	0.98124	0.650000	0.86243	CAG		0.308	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	NM_022476	
CDH16	1014	broad.mit.edu	37	16	66946227	66946227	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:66946227G>A	ENST00000299752.4	-	12	1659	c.1466C>T	c.(1465-1467)gCc>gTc	p.A489V	CDH16_ENST00000570262.1_Missense_Mutation_p.A409V|CDH16_ENST00000568632.1_Missense_Mutation_p.A392V|CDH16_ENST00000394055.3_Missense_Mutation_p.A489V|CDH16_ENST00000565796.1_Missense_Mutation_p.A489V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTCTCAATGGCAAAATCCAT	0.577																																						uc002eql.2																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1465-1467)GCC>GTC		cadherin 16 precursor							98.0	92.0	94.0					16																	66946227		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946227G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1466C>T	16.37:g.66946227G>A	ENSP00000299752:p.Ala489Val					CDH16_uc010cdy.2_Missense_Mutation_p.A489V|CDH16_uc002eqm.2_Missense_Mutation_p.A392V	p.A489V	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	12	1539	-		Ovarian(137;0.0563)	489			Extracellular (Potential).|Cadherin 5.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1466C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430181	0.25726	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53857	0.6;0.6	4.69	4.69	0.59074	Cadherin (4);Cadherin-like (1);	0.506506	0.21528	N	0.073093	T	0.48607	0.1509	L	0.53249	1.67	0.38726	D	0.953552	P;P;P	0.46859	0.617;0.885;0.72	B;B;B	0.42625	0.178;0.393;0.342	T	0.50474	-0.8824	10	0.27785	T	0.31	-10.2196	12.9978	0.58657	0.0:0.0:1.0:0.0	.	489;489;489	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	V	489;489;453	ENSP00000377619:A489V;ENSP00000299752:A489V	ENSP00000299752:A489V	A	-	2	0	CDH16	65503728	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	2.617000	0.46385	2.457000	0.83068	0.462000	0.41574	GCC		0.577	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	
WWP2	11060	broad.mit.edu	37	16	69973830	69973830	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:69973830T>C	ENST00000359154.2	+	24	2701	c.2600T>C	c.(2599-2601)tTt>tCt	p.F867S	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.F867S|WWP2_ENST00000356003.2_Missense_Mutation_p.F867S|WWP2_ENST00000568684.1_Missense_Mutation_p.F428S|WWP2_ENST00000542271.1_Missense_Mutation_p.F751S	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	867	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCGAGGGCTTTGGACAGGAG	0.612																																						uc002exu.1																			0				lung(3)|ovary(1)|breast(1)|skin(1)	6						c.(2599-2601)TTT>TCT		WW domain containing E3 ubiquitin protein ligase							80.0	61.0	67.0					16																	69973830		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69973830T>C	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2600T>C	16.37:g.69973830T>C	ENSP00000352069:p.Phe867Ser					WWP2_uc002exv.1_Missense_Mutation_p.F867S|WWP2_uc010vlm.1_Missense_Mutation_p.F751S|WWP2_uc010vln.1_Missense_Mutation_p.F485S|WWP2_uc002exw.1_Missense_Mutation_p.F428S	p.F867S	NM_007014	NP_008945	O00308	WWP2_HUMAN			25	2689	+			867			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.2600T>C	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	T	32	5.105116	0.94245	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.4	5.4	0.78164	HECT (3);	0.000000	0.85682	D	0.000000	D	0.94666	0.8280	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97149	0.9830	9	.	.	.	.	15.432	0.75108	0.0:0.0:0.0:1.0	.	867	O00308	WWP2_HUMAN	S	867;867;867;754;751	ENSP00000352069:F867S;ENSP00000396871:F867S;ENSP00000348283:F867S;ENSP00000445616:F751S	.	F	+	2	0	WWP2	68531331	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.021000	0.88750	2.044000	0.60594	0.459000	0.35465	TTT		0.612	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	
TP53	7157	broad.mit.edu	37	17	7577035	7577036	+	Frame_Shift_Ins	INS	-	-	G	rs72661120	byFrequency	TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:7577035_7577036insG	ENST00000269305.4	-	8	1091_1092	c.902_903insC	c.(901-903)ccafs	p.P301fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.P301fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P301fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P301fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P301fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	301	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G302fs*4(5)|p.?(3)|p.P301P(2)|p.P301fs*44(2)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.P301fs*5(1)|p.L265_K305del41(1)|p.P301Q(1)|p.G293fs*1(1)|p.P301L(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TAGTGCTCCCTGGGGGCAGCTC	0.559		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		29	Whole gene deletion(8)|Insertion - Frameshift(6)|Deletion - In frame(4)|Deletion - Frameshift(4)|Unknown(3)|Substitution - Missense(2)|Substitution - coding silent(2)	p.P301fs*44(9)|p.0?(7)|p.G302fs*4(4)|p.?(3)|p.P301fs*5(3)|p.P301S(3)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.P301Q(1)|p.P301P(1)|p.P301fs*45(1)|p.P301T(1)|p.G293fs*1(1)|p.P301L(1)|p.P301A(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	bone(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|urinary_tract(2)|lung(2)|oesophagus(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(901-903)CCAfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577035_7577036insG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.903dupC	17.37:g.7577040_7577040dupG	ENSP00000269305:p.Pro301fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Ins_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P169fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P301fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P301fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P301fs	p.P301fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1096_1097	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	301		P -> T (in a sporadic cancer; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.902_903insC	CCDS11118.1																																																																																				0.559	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NF1	4763	broad.mit.edu	37	17	29557336	29557336	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:29557336C>T	ENST00000358273.4	+	23	3432	c.3049C>T	c.(3049-3051)Caa>Taa	p.Q1017*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1017*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1017					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.Q1017*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAACTGTGTCAATTAGTTGA	0.338			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(1)	p.?(2)|p.Q1017*(1)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM950846	NF1	M		c.(3049-3051)CAA>TAA		neurofibromin isoform 1							60.0	57.0	58.0					17																	29557336		2203	4299	6502	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29557336C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3049C>T	17.37:g.29557336C>T	ENSP00000351015:p.Gln1017*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.Q1017*|NF1_uc010csn.1_Nonsense_Mutation_p.Q877*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q50*	p.Q1017*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	23	3382	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1017					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.3049C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	45	11.577041	0.99578	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.3015	0.94145	0.0:1.0:0.0:0.0	.	.	.	.	X	1017;1017;683	.	ENSP00000348498:Q1017X	Q	+	1	0	NF1	26581462	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.456000	0.80751	2.550000	0.86006	0.455000	0.32223	CAA		0.338	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
GAS2L2	246176	broad.mit.edu	37	17	34072639	34072639	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:34072639C>G	ENST00000254466.6	-	6	1904	c.1877G>C	c.(1876-1878)aGg>aCg	p.R626T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R610T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	626					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACCCCAGACCTTGTGCCCTG	0.582																																						uc002hjv.1																			0				ovary(1)|skin(1)	2						c.(1876-1878)AGG>ACG		growth arrest-specific 2 like 2							110.0	114.0	113.0					17																	34072639		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072639C>G	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1877G>C	17.37:g.34072639C>G	ENSP00000254466:p.Arg626Thr						p.R626T	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1905	-		Ovarian(249;0.17)	626					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1877G>C	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	0.557	-0.846830	0.02671	.	.	ENSG00000132139	ENST00000254466	T	0.18338	2.22	4.24	-0.0424	0.13863	.	0.772779	0.11430	N	0.564862	T	0.08537	0.0212	N	0.19112	0.55	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.33929	-0.9849	10	0.34782	T	0.22	-0.6762	1.9741	0.03412	0.1418:0.4749:0.1381:0.2452	.	626	Q8NHY3	GA2L2_HUMAN	T	626	ENSP00000254466:R626T	ENSP00000254466:R626T	R	-	2	0	GAS2L2	31096752	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.188000	0.17018	0.061000	0.16311	-0.229000	0.12294	AGG		0.582	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
TUBG2	27175	broad.mit.edu	37	17	40817702	40817702	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:40817702A>G	ENST00000251412.7	+	8	899	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	234					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCAGGTGTCCACCATCATGTC	0.637																																						uc010wgr.1																			0				ovary(1)	1						c.(700-702)ACC>GCC		tubulin, gamma 2							158.0	122.0	134.0					17																	40817702		2203	4300	6503	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40817702A>G	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.700A>G	17.37:g.40817702A>G	ENSP00000251412:p.Thr234Ala					TUBG2_uc002iaq.2_Missense_Mutation_p.T76A|TUBG2_uc002iar.2_Missense_Mutation_p.T81A|TUBG2_uc002ias.2_Missense_Mutation_p.T76A|TUBG2_uc002iap.2_Missense_Mutation_p.T81A	p.T234A	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	8	956	+		Breast(137;0.00116)	234					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.700A>G	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.440721	0.63067	.	.	ENSG00000037042	ENST00000251412	T	0.67698	-0.28	4.43	4.43	0.53597	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	L	0.48877	1.53	0.80722	D	1	B	0.15473	0.013	B	0.15484	0.013	T	0.61845	-0.6979	10	0.87932	D	0	-53.7428	13.2072	0.59805	1.0:0.0:0.0:0.0	.	234	Q9NRH3	TBG2_HUMAN	A	234	ENSP00000251412:T234A	ENSP00000251412:T234A	T	+	1	0	TUBG2	38071228	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.968000	0.93407	1.783000	0.52377	0.459000	0.35465	ACC		0.637	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437	
WNK4	65266	broad.mit.edu	37	17	40939868	40939868	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:40939868C>A	ENST00000246914.5	+	8	1835	c.1814C>A	c.(1813-1815)cCt>cAt	p.P605H	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	605					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCAGCCCCCTGGGGGGGTG	0.632																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2																			0				ovary(3)|skin(3)|stomach(1)	7						c.(1813-1815)CCT>CAT		WNK lysine deficient protein kinase 4							36.0	40.0	38.0					17																	40939868		2160	4216	6376	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939868C>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1814C>A	17.37:g.40939868C>A	ENSP00000246914:p.Pro605His					WNK4_uc010wgx.1_Missense_Mutation_p.P269H|WNK4_uc002ibk.1_Missense_Mutation_p.P377H|WNK4_uc010wgy.1_Intron	p.P605H	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	8	1835	+		Breast(137;0.000143)	605					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1814C>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500285	0.26861	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.73152	-0.72	5.11	1.9	0.25705	.	0.147997	0.31660	N	0.007267	T	0.54046	0.1834	L	0.36672	1.1	0.25732	N	0.985258	B;B;B	0.14805	0.011;0.006;0.002	B;B;B	0.12156	0.007;0.002;0.002	T	0.44128	-0.9348	10	0.45353	T	0.12	-6.1157	4.5829	0.12267	0.1733:0.6384:0.0:0.1884	.	605;605;605	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	H	605;377	ENSP00000246914:P605H	ENSP00000246914:P605H	P	+	2	0	WNK4	38193394	0.034000	0.19679	0.624000	0.29186	0.176000	0.22953	1.611000	0.36879	0.561000	0.29186	-0.266000	0.10368	CCT		0.632	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1		
CCDC178	374864	broad.mit.edu	37	18	30873224	30873224	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr18:30873224T>A	ENST00000383096.3	-	12	1257	c.1075A>T	c.(1075-1077)Ata>Tta	p.I359L	CCDC178_ENST00000402325.1_Missense_Mutation_p.I359L|CCDC178_ENST00000583930.1_Missense_Mutation_p.I359L|CCDC178_ENST00000300227.8_Missense_Mutation_p.I359L|CCDC178_ENST00000579947.1_Missense_Mutation_p.I359L|CCDC178_ENST00000403303.1_Missense_Mutation_p.I359L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.I359L			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	359																	TTAACATTTATCACTGATGAA	0.279																																						uc002kxn.2																			0				ovary(1)	1						c.(1075-1077)ATA>TTA		hypothetical protein LOC374864 isoform 1							96.0	91.0	93.0					18																	30873224		2199	4288	6487	SO:0001583	missense	374864							g.chr18:30873224T>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1075A>T	18.37:g.30873224T>A	ENSP00000372576:p.Ile359Leu					C18orf34_uc010xbr.1_Missense_Mutation_p.I359L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I359L|C18orf34_uc002kxp.2_Missense_Mutation_p.I359L	p.I359L	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			11	1217	-			359			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1075A>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	T	5.940	0.357369	0.11239	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56	3.59	-7.17	0.01511	.	.	.	.	.	T	0.08582	0.0213	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.28801	0.223;0.012;0.012;0.012	B;B;B;B	0.26770	0.073;0.012;0.012;0.012	T	0.16867	-1.0388	9	0.30854	T	0.27	4.8296	8.2791	0.31889	0.0:0.2961:0.4511:0.2528	.	359;359;359;359	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	L	359	ENSP00000385591:I359L;ENSP00000372576:I359L;ENSP00000300227:I359L;ENSP00000385867:I359L;ENSP00000385234:I359L	ENSP00000300227:I359L	I	-	1	0	C18orf34	29127222	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.658000	0.00401	-2.288000	0.00668	-0.619000	0.04042	ATA		0.279	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
URI1	8725	broad.mit.edu	37	19	30476136	30476136	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:30476136G>A	ENST00000542441.2	+	3	456	c.159G>A	c.(157-159)aaG>aaA	p.K53K	URI1_ENST00000360605.4_Silent_p.K35K|URI1_ENST00000312051.6_Silent_p.K13K|URI1_ENST00000392271.1_5'UTR			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	53					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										ACAGGAAGAAGGTAGATAATG	0.249																																						uc002nsr.2																			0				ovary(1)|kidney(1)	2						c.(157-159)AAG>AAA		RPB5-mediating protein isoform a							191.0	193.0	192.0					19																	30476136		2203	4300	6503	SO:0001819	synonymous_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30476136G>A	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.159G>A	19.37:g.30476136G>A						C19orf2_uc002nsq.2_Silent_p.K35K|C19orf2_uc002nss.2_Silent_p.K13K|C19orf2_uc002nst.2_5'UTR	p.K53K	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	3	189	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	53					A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	c.159G>A	CCDS12420.1																																																																																				0.249	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447	
WDR88	126248	broad.mit.edu	37	19	33651345	33651345	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:33651345T>A	ENST00000355868.3	+	8	1099	c.1023T>A	c.(1021-1023)ttT>ttA	p.F341L	WDR88_ENST00000361680.2_Missense_Mutation_p.F341L	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	341										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CTGGAGGGTTTGATAGGACTG	0.493																																						uc002nui.2																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1021-1023)TTT>TTA		PQQ repeat and WD repeat domain containing							210.0	192.0	198.0					19																	33651345		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33651345T>A	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1023T>A	19.37:g.33651345T>A	ENSP00000348129:p.Phe341Leu						p.F341L	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			8	1101	+	Esophageal squamous(110;0.137)		341			WD 6.		Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.1023T>A	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.916857	0.33815	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.59502	0.26;0.26	5.5	-10.5	0.00291	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	2.573600	0.01021	N	0.003994	T	0.42607	0.1210	L	0.35414	1.06	0.09310	N	1	P	0.44090	0.826	B	0.41946	0.371	T	0.42632	-0.9440	10	0.11794	T	0.64	.	13.2491	0.60041	0.0:0.0906:0.1752:0.7342	.	341	Q6ZMY6	WDR88_HUMAN	L	341	ENSP00000348129:F341L;ENSP00000355148:F341L	ENSP00000348129:F341L	F	+	3	2	WDR88	38343185	0.981000	0.34729	0.006000	0.13384	0.320000	0.28249	0.064000	0.14437	-1.830000	0.01199	-0.248000	0.11899	TTT		0.493	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479	
LRP3	4037	broad.mit.edu	37	19	33695616	33695616	+	Silent	SNP	A	A	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:33695616A>C	ENST00000253193.7	+	4	535	c.333A>C	c.(331-333)ccA>ccC	p.P111P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	111	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.P111P(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGCAGCCCCACCCCGCCAGG	0.662																																						uc010edh.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(331-333)CCA>CCC		low density lipoprotein receptor-related protein							56.0	59.0	58.0					19																	33695616		2203	4299	6502	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33695616A>C	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.333A>C	19.37:g.33695616A>C						LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR	p.P111P	NM_002333	NP_002324	O75074	LRP3_HUMAN			4	426	+	Esophageal squamous(110;0.137)		111			Extracellular (Potential).|CUB 1.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.333A>C	CCDS12430.1																																																																																				0.662	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
KCTD15	79047	broad.mit.edu	37	19	34292103	34292103	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:34292103C>T	ENST00000430256.3	+	3	506	c.98C>T	c.(97-99)aCc>aTc	p.T33I	KCTD15_ENST00000284006.6_Missense_Mutation_p.T33I|KCTD15_ENST00000588881.1_Missense_Mutation_p.T33I|KCTD15_ENST00000589786.1_Missense_Mutation_p.T33I			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	33					multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CTGTCTCTCACCCGGTCGCCT	0.582																																					Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)	uc002nuy.3																			0				pancreas(1)	1						c.(97-99)ACC>ATC		potassium channel tetramerisation domain							95.0	91.0	92.0					19																	34292103		2203	4300	6503	SO:0001583	missense	79047					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:34292103C>T	AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"""potassium channel tetramerisation domain containing 15"""			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.98C>T	19.37:g.34292103C>T	ENSP00000394390:p.Thr33Ile					KCTD15_uc002nuv.2_Missense_Mutation_p.T33I|KCTD15_uc002nuw.3_Missense_Mutation_p.T33I|KCTD15_uc010xrt.1_Missense_Mutation_p.T33I|KCTD15_uc002nux.3_Missense_Mutation_p.T33I	p.T33I	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN			4	366	+	Esophageal squamous(110;0.162)		33					A8K600|Q9BVI6	Missense_Mutation	SNP	ENST00000430256.3	37	c.98C>T	CCDS46039.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834347	0.91036	.	.	ENSG00000153885	ENST00000430256;ENST00000284006;ENST00000422820	T;T	0.76060	0.87;-0.99	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	L	0.27053	0.805	0.80722	D	1	D;P	0.56287	0.975;0.804	P;P	0.50754	0.649;0.463	T	0.76672	-0.2873	10	0.66056	D	0.02	.	18.2971	0.90150	0.0:1.0:0.0:0.0	.	33;33	Q96SI1;Q96SI1-2	KCD15_HUMAN;.	I	33;33;36	ENSP00000394390:T33I;ENSP00000284006:T33I	ENSP00000284006:T33I	T	+	2	0	KCTD15	38983943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.648000	0.67930	2.571000	0.86741	0.655000	0.94253	ACC		0.582	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451462.2	NM_024076	
ZNF470	388566	broad.mit.edu	37	19	57088457	57088457	+	Silent	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:57088457A>G	ENST00000330619.8	+	6	1346	c.660A>G	c.(658-660)caA>caG	p.Q220Q	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.Q220Q	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	220					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)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AACACAAGCAAGACCGTGGAG	0.308																																						uc002qnl.3																			0				ovary(1)|pancreas(1)	2						c.(658-660)CAA>CAG		zinc finger protein 470							38.0	39.0	39.0					19																	57088457		2203	4297	6500	SO:0001819	synonymous_variant	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088457A>G	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.660A>G	19.37:g.57088457A>G						ZNF470_uc010etn.2_Intron	p.Q220Q	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1336	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	220					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	ENST00000330619.8	37	c.660A>G	CCDS33122.1																																																																																				0.308	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
ZNF324	25799	broad.mit.edu	37	19	58983498	58983498	+	Missense_Mutation	SNP	G	G	A	rs530266629		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:58983498G>A	ENST00000536459.2	+	4	2348	c.1639G>A	c.(1639-1641)Gtc>Atc	p.V547I	ZNF324_ENST00000196482.3_Missense_Mutation_p.V547I|ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_Missense_Mutation_p.V324I			O75467	Z324A_HUMAN	zinc finger protein 324	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCAGCCGCCGTCTCGCAGCC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17217	0.001		0.0	False		,,,				2504	0.0					uc002qsw.1																			0					0						c.(1639-1641)GTC>ATC		zinc finger protein 324							17.0	19.0	19.0					19																	58983498		2129	4210	6339	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983498G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1639G>A	19.37:g.58983498G>A	ENSP00000444812:p.Val547Ile					ZNF324_uc002qsx.1_Missense_Mutation_p.V324I	p.V547I	NM_014347	NP_055162	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1733	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	547					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1639G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489015	0.26686	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000535298	T;T;T	0.06294	3.43;3.43;3.32	4.1	-4.77	0.03219	.	2.019790	0.02756	N	0.118044	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39921	-0.9590	10	0.06891	T	0.86	.	5.4447	0.16529	0.4156:0.2509:0.3335:0.0	.	547	O75467	Z324A_HUMAN	I	547;547;324	ENSP00000196482:V547I;ENSP00000444812:V547I;ENSP00000439588:V324I	ENSP00000196482:V547I	V	+	1	0	ZNF324	63675310	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.745000	0.04834	-0.820000	0.04318	0.455000	0.32223	GTC		0.652	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347	
APOB	338	broad.mit.edu	37	2	21247830	21247830	+	Missense_Mutation	SNP	C	C	T	rs148190577	byFrequency	TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:21247830C>T	ENST00000233242.1	-	16	2538	c.2411G>A	c.(2410-2412)cGc>cAc	p.R804H	APOB_ENST00000399256.4_Intron	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	804				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGAGTGCGGGCACCCAT	0.587													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15250	0.0		0.0	False		,,,				2504	0.0					uc002red.2																			0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2410-2412)CGC>CAC		apolipoprotein B precursor	Atorvastatin(DB01076)	C	HIS/ARG	7,4399	12.9+/-30.5	0,7,2196	68.0	73.0	71.0		2411	-7.4	0.0	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	APOB	NM_000384.2	29	0,8,6495	TT,TC,CC		0.0116,0.1589,0.0615	benign	804/4564	21247830	8,12998	2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21247830C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2411G>A	2.37:g.21247830C>T	ENSP00000233242:p.Arg804His						p.R804H	NM_000384	NP_000375	P04114	APOB_HUMAN			16	2539	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		804	LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759).				O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2411G>A	CCDS1703.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	15.17	2.752876	0.49362	0.001589	1.16E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.17054	2.3	5.7	-7.43	0.01383	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	1.607850	0.03285	N	0.186746	T	0.14614	0.0353	L	0.29908	0.895	0.09310	N	0.999992	B	0.15473	0.013	B	0.12156	0.007	T	0.13980	-1.0489	10	0.23891	T	0.37	.	18.9834	0.92763	0.0:0.2157:0.0:0.7843	.	804	P04114	APOB_HUMAN	H	804	ENSP00000233242:R804H	ENSP00000233242:R804H	R	-	2	0	APOB	21101335	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.734000	0.01848	-1.558000	0.01690	0.655000	0.94253	CGC		0.587	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542																																						uc002rmt.1																			0				skin(1)	1						c.(1477-1482)GAGGAA>GAA		hypothetical protein LOC388939																																				SO:0001651	inframe_deletion	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295647_29295649delTCC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1479_1481delGGA	2.37:g.29295656_29295658delTCC	ENSP00000332809:p.Glu494del						p.493_494EE>E	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	1479_1481	-			493_494						In_Frame_Del	DEL	ENST00000331664.5	37	c.1479_1481delGGA	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
NRXN1	9378	broad.mit.edu	37	2	50765702	50765702	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:50765702T>A	ENST00000406316.2	-	10	3308	c.1832A>T	c.(1831-1833)gAt>gTt	p.D611V	NRXN1_ENST00000401669.2_Missense_Mutation_p.D611V|NRXN1_ENST00000406859.3_Missense_Mutation_p.D611V|NRXN1_ENST00000405472.3_Missense_Mutation_p.D603V|NRXN1_ENST00000402717.3_Missense_Mutation_p.D603V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.D651V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	611	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTACAACTCATCATCCAGGTC	0.527																																						uc010fbq.2																			0				ovary(2)	2						c.(1951-1953)GAT>GTT		neurexin 1 isoform alpha2 precursor							75.0	82.0	80.0					2																	50765702		2164	4279	6443	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50765702T>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1832A>T	2.37:g.50765702T>A	ENSP00000384311:p.Asp611Val					NRXN1_uc002rxb.3_Missense_Mutation_p.D283V|NRXN1_uc002rxe.3_Missense_Mutation_p.D611V|NRXN1_uc002rxc.1_RNA	p.D651V	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	3429	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1952A>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445465	0.84101	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	M	0.64567	1.98	0.58432	D	0.999999	P;P;D	0.53151	0.82;0.899;0.958	P;P;P	0.62740	0.516;0.689;0.906	T	0.80516	-0.1348	10	0.66056	D	0.02	.	15.8855	0.79244	0.0:0.0:0.0:1.0	.	651;611;603	Q9ULB1-3;F8WB18;A7E294	.;.;.	V	651;611;603;611;652;603;611	ENSP00000385142:D651V;ENSP00000384311:D611V;ENSP00000434015:D603V;ENSP00000385017:D611V;ENSP00000385434:D603V;ENSP00000385681:D611V	ENSP00000385017:D611V	D	-	2	0	NRXN1	50619206	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.289000	0.72696	2.150000	0.67090	0.455000	0.32223	GAT		0.527	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
ARHGAP25	9938	broad.mit.edu	37	2	69046427	69046427	+	Silent	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:69046427T>C	ENST00000295381.3	+	9	1592	c.1173T>C	c.(1171-1173)tcT>tcC	p.S391S	ARHGAP25_ENST00000497079.1_Silent_p.S385S|ARHGAP25_ENST00000479844.1_Silent_p.S85S|ARHGAP25_ENST00000409220.1_Silent_p.S385S|ARHGAP25_ENST00000409030.3_Silent_p.S384S|ARHGAP25_ENST00000467265.1_Silent_p.S352S|ARHGAP25_ENST00000409202.3_Silent_p.S392S	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	391					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCCGAATTTCTAGGACAGACA	0.532																																						uc002seu.2																			0				ovary(2)|breast(2)	4						c.(1171-1173)TCT>TCC		Rho GTPase activating protein 25 isoform a							89.0	84.0	86.0					2																	69046427		2203	4300	6503	SO:0001819	synonymous_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046427T>C	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1173T>C	2.37:g.69046427T>C						ARHGAP25_uc010fdg.2_Silent_p.S392S|ARHGAP25_uc010yql.1_Silent_p.S352S|ARHGAP25_uc002sev.2_Silent_p.S385S|ARHGAP25_uc002sew.2_Silent_p.S384S|ARHGAP25_uc002sex.2_Silent_p.S385S|ARHGAP25_uc002sey.2_Silent_p.S118S	p.S391S	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			9	1537	+			391					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37	c.1173T>C		.	.	.	.	.	.	.	.	.	.	T	9.888	1.203362	0.22121	.	.	ENSG00000163219	ENST00000497259	.	.	.	5.22	1.34	0.21922	.	.	.	.	.	T	0.50531	0.1621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34354	-0.9832	4	.	.	.	.	4.4033	0.11397	0.1395:0.2452:0.0:0.6152	.	.	.	.	P	251	.	.	L	+	2	0	ARHGAP25	68899931	0.071000	0.21146	0.989000	0.46669	0.916000	0.54674	-0.782000	0.04643	0.133000	0.18654	0.460000	0.39030	CTA		0.532	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
LMAN2L	81562	broad.mit.edu	37	2	97400183	97400183	+	Silent	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:97400183G>C	ENST00000264963.4	-	3	409	c.387C>G	c.(385-387)ggC>ggG	p.G129G	LMAN2L_ENST00000426463.2_Missense_Mutation_p.A12G|LMAN2L_ENST00000534882.1_Missense_Mutation_p.A12G|LMAN2L_ENST00000377079.4_Silent_p.G129G|LMAN2L_ENST00000537039.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	129	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AGATTGCCAAGCCATCCCCAT	0.473																																						uc002swu.2																			0					0						c.(385-387)GGC>GGG		lectin, mannose-binding 2-like isoform 2							247.0	222.0	230.0					2																	97400183		2203	4300	6503	SO:0001819	synonymous_variant	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97400183G>C	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.387C>G	2.37:g.97400183G>C						LMAN2L_uc002swv.2_Silent_p.G129G|LMAN2L_uc010yut.1_Missense_Mutation_p.A12G|LMAN2L_uc010yuu.1_5'UTR|LMAN2L_uc010yuv.1_5'UTR|LMAN2L_uc010yuw.1_Missense_Mutation_p.A12G|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_Missense_Mutation_p.A12G	p.G129G	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN			3	423	-			129			L-type lectin-like.|Lumenal (Potential).		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.387C>G	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943544	0.53079	.	.	ENSG00000114988	ENST00000426463;ENST00000534882	T;T	0.78924	-1.22;-1.11	6.06	6.06	0.98353	.	.	.	.	.	T	0.70657	0.3249	.	.	.	0.80722	D	1	B;B	0.18610	0.029;0.014	B;B	0.19666	0.026;0.007	T	0.62969	-0.6741	7	.	.	.	.	19.4112	0.94673	0.0:0.0:1.0:0.0	.	12;12	B4DVH1;B4DSH3	.;.	G	12	ENSP00000396391:A12G;ENSP00000438501:A12G	.	A	-	2	0	LMAN2L	96763910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.362000	0.34148	2.880000	0.98712	0.650000	0.86243	GCT		0.473	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805	
MFSD9	84804	broad.mit.edu	37	2	103340253	103340253	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:103340253G>C	ENST00000258436.5	-	5	586	c.543C>G	c.(541-543)atC>atG	p.I181M		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	181					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGGGGCCCAAGATGAAGCCCA	0.502																																						uc002tcb.2																			0				ovary(2)|breast(2)	4						c.(541-543)ATC>ATG		major facilitator superfamily domain containing							85.0	86.0	86.0					2																	103340253		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103340253G>C		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.543C>G	2.37:g.103340253G>C	ENSP00000258436:p.Ile181Met					MFSD9_uc010fja.2_RNA	p.I181M	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			5	611	-			181			Helical; (Potential).		Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.543C>G	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293479	0.40594	.	.	ENSG00000135953	ENST00000258436	T	0.60040	0.22	4.99	4.1	0.47936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.63428	1.95	0.41724	D	0.989524	D	0.76494	0.999	D	0.76575	0.988	T	0.70985	-0.4723	10	0.52906	T	0.07	-14.1973	10.1754	0.42935	0.1568:0.0:0.8432:0.0	.	181	Q8NBP5	MFSD9_HUMAN	M	181	ENSP00000258436:I181M	ENSP00000258436:I181M	I	-	3	3	MFSD9	102706685	0.993000	0.37304	0.999000	0.59377	0.352000	0.29268	0.717000	0.25851	2.291000	0.77112	0.467000	0.42956	ATC		0.502	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718	
FIGN	55137	broad.mit.edu	37	2	164466661	164466661	+	Missense_Mutation	SNP	C	C	T	rs367860574		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:164466661C>T	ENST00000333129.3	-	3	1995	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	561					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						TCTGCTTCTCCTAACCACTTG	0.493																																						uc002uck.1																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1681-1683)GGA>AGA		fidgetin		C	ARG/GLY	1,3863		0,1,1931	56.0	55.0	56.0		1681	5.4	1.0	2		56	0,8254		0,0,4127	no	missense	FIGN	NM_018086.2	125	0,1,6058	TT,TC,CC		0.0,0.0259,0.0083	probably-damaging	561/760	164466661	1,12117	1932	4127	6059	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466661C>T	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.1681G>A	2.37:g.164466661C>T	ENSP00000333836:p.Gly561Arg						p.G561R	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1992	-			561					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1681G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912486	0.52439	2.59E-4	0.0	ENSG00000182263	ENST00000333129	D	0.95069	-3.6	5.36	5.36	0.76844	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.108661	0.64402	D	0.000006	D	0.97816	0.9283	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.98314	1.0525	10	0.87932	D	0	-9.7472	12.7607	0.57363	0.0:0.9248:0.0:0.0752	.	561	Q5HY92	FIGN_HUMAN	R	561	ENSP00000333836:G561R	ENSP00000333836:G561R	G	-	1	0	FIGN	164174907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.051000	0.71072	2.678000	0.91216	0.563000	0.77884	GGA		0.493	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
CPO	130749	broad.mit.edu	37	2	207827161	207827161	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:207827161A>T	ENST00000272852.3	+	7	646	c.600A>T	c.(598-600)caA>caT	p.Q200H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	200						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GAAACTGCCAAGATCAAACAT	0.448																																						uc002vby.2																			0				large_intestine(1)|ovary(1)	2						c.(598-600)CAA>CAT		carboxypeptidase O precursor							173.0	171.0	171.0					2																	207827161		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207827161A>T		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.600A>T	2.37:g.207827161A>T	ENSP00000272852:p.Gln200His						p.Q200H	NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	7	646	+			200					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.600A>T	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	A	5.263	0.234007	0.09969	.	.	ENSG00000144410	ENST00000272852	T	0.29142	1.58	5.5	1.82	0.25136	Peptidase M14, carboxypeptidase A (2);	0.924814	0.09294	N	0.821866	T	0.14227	0.0344	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29671	-1.0004	10	0.37606	T	0.19	.	7.9491	0.30003	0.7517:0.0:0.2483:0.0	.	200	Q8IVL8	CBPO_HUMAN	H	200	ENSP00000272852:Q200H	ENSP00000272852:Q200H	Q	+	3	2	CPO	207535406	0.000000	0.05858	0.209000	0.23619	0.018000	0.09664	-0.268000	0.08607	0.165000	0.19558	0.454000	0.30748	CAA		0.448	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077	
SPHKAP	80309	broad.mit.edu	37	2	228881144	228881144	+	Missense_Mutation	SNP	C	C	T	rs150119101		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:228881144C>T	ENST00000392056.3	-	7	4472	c.4426G>A	c.(4426-4428)Gtg>Atg	p.V1476M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V1476M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1476						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGCGCTCACGGCTGTGTCT	0.463																																						uc002vpq.2																			0				skin(5)|ovary(4)|lung(1)	10						c.(4426-4428)GTG>ATG		sphingosine kinase type 1-interacting protein							146.0	146.0	146.0					2																	228881144		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881144C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4426G>A	2.37:g.228881144C>T	ENSP00000375909:p.Val1476Met					SPHKAP_uc002vpp.2_Missense_Mutation_p.V1476M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V1476M	p.V1476M	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4473	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1476					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4426G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	8.565	0.878766	0.17395	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.73;2.72	5.0	-9.99	0.00435	.	2.388690	0.01208	N	0.007774	T	0.06962	0.0177	N	0.16478	0.41	0.09310	N	1	B;B;B	0.21225	0.013;0.019;0.053	B;B;B	0.12837	0.002;0.003;0.008	T	0.16188	-1.0411	10	0.41790	T	0.15	.	5.7455	0.18118	0.0846:0.1249:0.4784:0.3121	.	507;1476;1476	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	M	1476	ENSP00000375909:V1476M;ENSP00000339886:V1476M	ENSP00000339886:V1476M	V	-	1	0	SPHKAP	228589388	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.864000	0.00724	-2.397000	0.00581	-0.254000	0.11334	GTG		0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
KRTAP10-9	386676	broad.mit.edu	37	21	46047750	46047750	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr21:46047750C>A	ENST00000397911.3	+	1	711	c.662C>A	c.(661-663)aCc>aAc	p.T221N	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	221	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTTGCTGCACCACCTCCTGC	0.657																																						uc002zfp.3																			0					0						c.(661-663)ACC>AAC		keratin associated protein 10-9							142.0	160.0	154.0					21																	46047750		2203	4300	6503	SO:0001583	missense	386676					keratin filament		g.chr21:46047750C>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.662C>A	21.37:g.46047750C>A	ENSP00000381009:p.Thr221Asn					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.T221N	NM_198690	NP_941963	P60411	KR109_HUMAN			1	711	+			221			22.|25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.662C>A	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	c	1.708	-0.499887	0.04291	.	.	ENSG00000221837	ENST00000397911	T	0.01414	4.92	2.05	-1.23	0.09465	.	.	.	.	.	T	0.05410	0.0143	M	0.78049	2.395	0.09310	N	1	D	0.62365	0.991	D	0.78314	0.991	T	0.28554	-1.0040	8	.	.	.	.	2.4248	0.04457	0.4524:0.3184:0.0:0.2292	.	221	P60411	KR109_HUMAN	N	221	ENSP00000381009:T221N	.	T	+	2	0	KRTAP10-9	44872178	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.567000	0.05916	-0.503000	0.06586	0.655000	0.94253	ACC		0.657	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1		
COL7A1	1294	broad.mit.edu	37	3	48612126	48612126	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:48612126C>G	ENST00000328333.8	-	77	6484	c.6377G>C	c.(6376-6378)gGt>gCt	p.G2126A	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2094A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2126	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTTTGGGACCTTGGTCACC	0.607																																						uc003ctz.2																			0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(6376-6378)GGT>GCT		alpha 1 type VII collagen precursor							73.0	76.0	75.0					3																	48612126		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612126C>G	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6377G>C	3.37:g.48612126C>G	ENSP00000332371:p.Gly2126Ala						p.G2126A	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	77	6378	-			2126			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6377G>C	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657597	0.29425	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99607	-6.27;-6.27	5.13	5.13	0.70059	.	0.000000	0.40908	D	0.000994	D	0.99785	0.9910	H	0.96996	3.92	0.48762	D	0.999703	D	0.89917	1.0	D	0.97110	1.0	D	0.96914	0.9669	10	0.87932	D	0	.	17.5735	0.87941	0.0:1.0:0.0:0.0	.	2126	Q02388	CO7A1_HUMAN	A	2126;2094	ENSP00000332371:G2126A;ENSP00000412569:G2094A	ENSP00000332371:G2126A	G	-	2	0	COL7A1	48587130	1.000000	0.71417	0.989000	0.46669	0.402000	0.30811	4.685000	0.61693	2.379000	0.81126	0.462000	0.41574	GGT		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
C3orf38	285237	broad.mit.edu	37	3	88205314	88205314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:88205314G>A	ENST00000318887.3	+	3	829	c.519G>A	c.(517-519)tgG>tgA	p.W173*	C3orf38_ENST00000486971.1_Missense_Mutation_p.G138D	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	173					apoptotic process (GO:0006915)			p.W171*(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCACTTCTGGCATGATGTGA	0.418																																						uc003dqw.2																			1	Substitution - Nonsense(1)		large_intestine(1)		0						c.(517-519)TGG>TGA		hypothetical protein LOC285237							82.0	76.0	78.0					3																	88205314		2203	4300	6503	SO:0001587	stop_gained	285237				apoptosis			g.chr3:88205314G>A	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.519G>A	3.37:g.88205314G>A	ENSP00000322469:p.Trp173*						p.W173*	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	4	830	+		Lung NSC(201;0.17)	173					B2R8X6|Q8TC85	Nonsense_Mutation	SNP	ENST00000318887.3	37	c.519G>A	CCDS2921.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.066356|7.066356	0.98040|0.98040	.|.	.|.	ENSG00000179021|ENSG00000179021	ENST00000486971|ENST00000318887	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47783|.	0.1464|.	.|.	.|.	.|.	0.43050|0.43050	D|D	0.994659|0.994659	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36744|.	-0.9735|.	5|.	0.10377|0.02654	T|T	0.69|1	-7.7031|-7.7031	19.3318|19.3318	0.94293|0.94293	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	138|173	.|.	ENSP00000418774:G138D|ENSP00000322469:W173X	G|W	+|+	2|3	0|0	C3orf38|C3orf38	88288004|88288004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.172000|7.172000	0.77604|0.77604	2.802000|2.802000	0.96397|0.96397	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.418	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824	
DRD3	1814	broad.mit.edu	37	3	113847759	113847759	+	Splice_Site	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:113847759C>T	ENST00000460779.1	-	8	1296	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	DRD3_ENST00000467632.1_Splice_Site_p.G336E|DRD3_ENST00000383673.2_Splice_Site_p.G336E|DRD3_ENST00000295881.7_Splice_Site_p.G303E	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	336					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AATGAAGGCCCCTAAGTTGCC	0.478																																						uc003ebd.2																			0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1006-1008)GGG>GAG		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						94.0	97.0	96.0					3																	113847759		2203	4300	6503	SO:0001630	splice_region_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113847759C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.1007-1G>A	3.37:g.113847759C>T						DRD3_uc010hqn.1_Missense_Mutation_p.G336E|DRD3_uc003ebb.1_Missense_Mutation_p.G303E|DRD3_uc003ebc.1_Missense_Mutation_p.G336E	p.G336E	NM_000796	NP_000787	P35462	DRD3_HUMAN			8	1430	-			336			Helical; Name=6.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.1007G>A	CCDS2978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.871976|4.871976	0.91587|0.91587	.|.	.|.	ENSG00000151577|ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000295881|ENST00000281274	T;T;T;T|.	0.38401|.	1.14;1.14;1.14;1.14|.	5.36|5.36	5.36|5.36	0.76844|0.76844	GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91061|.	0.7187|.	H|H	0.98883|0.98883	4.36|4.36	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.998;0.998;0.999|.	D|.	0.93124|.	0.6527|.	10|.	0.87932|0.45353	D|T	0|0.12	.|.	19.2856|19.2856	0.94067|0.94067	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	336;336;336;303|.	A1A4V4;A8K8E4;P35462;E9PCM4|.	.;.;DRD3_HUMAN;.|.	E|X	336;336;336;303|303	ENSP00000419402:G336E;ENSP00000420662:G336E;ENSP00000373169:G336E;ENSP00000295881:G303E|.	ENSP00000295881:G303E|ENSP00000281274:W303X	G|W	-|-	2|3	0|0	DRD3|DRD3	115330449|115330449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	7.651000|7.651000	0.83577|0.83577	2.788000|2.788000	0.95919|0.95919	0.585000|0.585000	0.79938|0.79938	GGG|TGG		0.478	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3	Missense_Mutation
PPM1L	151742	broad.mit.edu	37	3	160786689	160786689	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:160786689A>G	ENST00000498165.1	+	4	928	c.827A>G	c.(826-828)aAc>aGc	p.N276S	PPM1L_ENST00000464260.1_Missense_Mutation_p.N97S|PPM1L_ENST00000295839.9_Missense_Mutation_p.N149S|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	276	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAAAATCTCAACGTGGTCATC	0.522																																					Pancreas(86;250 1994 13715 43211)	uc003fdr.2																			0				breast(1)	1						c.(826-828)AAC>AGC		protein phosphatase 1 (formerly 2C)-like							96.0	89.0	92.0					3																	160786689		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160786689A>G	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.827A>G	3.37:g.160786689A>G	ENSP00000417659:p.Asn276Ser					PPM1L_uc003fds.2_Missense_Mutation_p.N97S|PPM1L_uc003fdt.2_Missense_Mutation_p.N149S|PPM1L_uc010hwf.2_RNA	p.N276S	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		4	928	+			276			Cytoplasmic (Potential).|PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.827A>G	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.997484	0.35226	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.09073	3.02;3.02;3.02	5.19	4.01	0.46588	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	N	0.16368	0.405	0.58432	D	0.999992	B;B	0.31026	0.134;0.304	B;B	0.33960	0.041;0.173	T	0.44081	-0.9351	10	0.35671	T	0.21	.	10.6126	0.45432	0.8559:0.0:0.0:0.1441	.	149;276	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	S	276;97;149	ENSP00000417659:N276S;ENSP00000420746:N97S;ENSP00000295839:N149S	ENSP00000295839:N149S	N	+	2	0	PPM1L	162269383	1.000000	0.71417	0.986000	0.45419	0.649000	0.38597	8.935000	0.92923	0.804000	0.34136	-0.341000	0.08007	AAC		0.522	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245	
PCYT1A	5130	broad.mit.edu	37	3	195969479	195969479	+	Nonsense_Mutation	SNP	A	A	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:195969479A>C	ENST00000292823.2	-	7	691	c.519T>G	c.(517-519)taT>taG	p.Y173*	PCYT1A_ENST00000431016.1_Nonsense_Mutation_p.Y173*|PCYT1A_ENST00000419333.1_Nonsense_Mutation_p.Y173*	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	173					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CAGCAGATGAATAAGGAATAT	0.428																																						uc003fwg.2																			0					0						c.(517-519)TAT>TAG		choline phosphate cytidylyltransferase 1 alpha	Choline(DB00122)						107.0	98.0	101.0					3																	195969479		2203	4300	6503	SO:0001587	stop_gained	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195969479A>C	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.519T>G	3.37:g.195969479A>C	ENSP00000292823:p.Tyr173*					PCYT1A_uc003fwh.2_Nonsense_Mutation_p.Y173*	p.Y173*	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	7	692	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		173			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Nonsense_Mutation	SNP	ENST00000292823.2	37	c.519T>G	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932320	0.52866	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	.	.	.	6.14	-5.06	0.02946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0328	17.2731	0.87107	0.406:0.0:0.594:0.0	.	.	.	.	X	173;173;134;173;173;46;107	.	ENSP00000292823:Y173X	Y	-	3	2	PCYT1A	197453876	0.998000	0.40836	0.776000	0.31678	0.966000	0.64601	0.547000	0.23299	-1.183000	0.02723	-0.256000	0.11100	TAT		0.428	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017	
CYP2U1	113612	broad.mit.edu	37	4	108866315	108866315	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:108866315C>T	ENST00000332884.6	+	2	955	c.680C>T	c.(679-681)gCc>gTc	p.A227V	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.A18V	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	227					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATCAGCAATGCCGTCTCTAAC	0.438																																						uc003hyp.2																			0					0						c.(679-681)GCC>GTC		cytochrome P450, family 2, subfamily U,							138.0	134.0	135.0					4																	108866315		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866315C>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.680C>T	4.37:g.108866315C>T	ENSP00000333212:p.Ala227Val					CYP2U1_uc011cfi.1_Missense_Mutation_p.A18V	p.A227V	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	763	+		Hepatocellular(203;0.217)	227					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.680C>T	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974651	0.92919	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.69435	-0.4;-0.4	5.63	5.63	0.86233	.	0.101545	0.64402	D	0.000002	D	0.83871	0.5348	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85220	0.1026	10	0.62326	D	0.03	.	19.32	0.94234	0.0:1.0:0.0:0.0	.	227	Q7Z449	CP2U1_HUMAN	V	227;184;18	ENSP00000333212:A227V;ENSP00000423667:A18V	ENSP00000333212:A227V	A	+	2	0	CYP2U1	109085764	1.000000	0.71417	0.951000	0.38953	0.973000	0.67179	5.759000	0.68785	2.652000	0.90054	0.655000	0.94253	GCC		0.438	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075	
ANK2	287	broad.mit.edu	37	4	114279919	114279919	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:114279919T>C	ENST00000357077.4	+	38	10198	c.10145T>C	c.(10144-10146)aTc>aCc	p.I3382T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.I3349T|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3382					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGGCAAGCATCGCACCAGAT	0.463																																						uc003ibe.3																			0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(10144-10146)ATC>ACC		ankyrin 2 isoform 1							102.0	103.0	103.0					4																	114279919		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114279919T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10145T>C	4.37:g.114279919T>C	ENSP00000349588:p.Ile3382Thr					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.I684T|ANK2_uc011cgb.1_Missense_Mutation_p.I3397T	p.I3382T	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10245	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3349					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10145T>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.867253	0.00547	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.95980	-0.2;-0.22;-3.87	5.49	-0.168	0.13343	.	0.621181	0.15117	N	0.279607	D	0.84352	0.5453	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.72750	-0.4199	10	0.23302	T	0.38	.	1.742	0.02954	0.3498:0.355:0.1627:0.1326	.	3349;3382	Q01484;Q01484-4	ANK2_HUMAN;.	T	3382;3349;392	ENSP00000349588:I3382T;ENSP00000264366:I3349T;ENSP00000422498:I392T	ENSP00000264366:I3349T	I	+	2	0	ANK2	114499368	0.180000	0.23148	0.000000	0.03702	0.092000	0.18411	0.857000	0.27831	0.014000	0.14944	-1.017000	0.02453	ATC		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
CENPU	79682	broad.mit.edu	37	4	185631267	185631267	+	Silent	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:185631267A>G	ENST00000281453.5	-	8	826	c.756T>C	c.(754-756)aaT>aaC	p.N252N	MLF1IP_ENST00000506535.1_5'UTR|MLF1IP_ENST00000541971.1_Silent_p.N252N	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCAAAACAATATTCAACTCCT	0.348																																						uc003iwq.2																			0					0						c.(754-756)AAT>AAC		MLF1 interacting protein							138.0	126.0	130.0					4																	185631267		2203	4300	6503	SO:0001819	synonymous_variant	79682				CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr4:185631267A>G																												ENST00000281453.5:c.756T>C	4.37:g.185631267A>G						MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_Silent_p.N252N	p.N252N	NM_024629	NP_078905	Q71F23	CENPU_HUMAN		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)	8	826	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)	252						Silent	SNP	ENST00000281453.5	37	c.756T>C	CCDS3838.1																																																																																				0.348	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2		
MTRR	4552	broad.mit.edu	37	5	7875377	7875377	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:7875377G>A	ENST00000264668.2	+	4	401	c.371G>A	c.(370-372)gGt>gAt	p.G124D	MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000341013.6_Missense_Mutation_p.V46M|MTRR_ENST00000440940.2_Missense_Mutation_p.G97D	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	124	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAGGTCTCGGTGATTCAGAA	0.348																																						uc003jed.2																			0				ovary(1)	1						c.(370-372)GGT>GAT		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						111.0	118.0	116.0					5																	7875377		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7875377G>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.371G>A	5.37:g.7875377G>A	ENSP00000264668:p.Gly124Asp					MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.G97D|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.G124D	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			4	401	+			124			FMN (By similarity).|Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.371G>A	CCDS3874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488936|3.488936	0.64074|0.64074	.|.	.|.	ENSG00000124275|ENSG00000124275	ENST00000264668;ENST00000440940;ENST00000502550;ENST00000512217|ENST00000341013	D;D;D;D|T	0.92965|0.59502	-3.14;-3.14;-3.14;-3.14|0.26	5.46|5.46	5.46|5.46	0.80206|0.80206	Flavodoxin/nitric oxide synthase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84804|0.84804	0.5553|0.5553	H|H	0.96861|0.96861	3.895|3.895	0.27365|0.27365	N|N	0.955869|0.955869	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.81387|0.81387	-0.0956|-0.0956	10|7	0.87932|0.72032	D|D	0|0.01	-34.0986|-34.0986	19.6891|19.6891	0.95991|0.95991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	124|.	Q9UBK8|.	MTRR_HUMAN|.	D|M	124;97;97;97|46	ENSP00000264668:G124D;ENSP00000402510:G97D;ENSP00000424599:G97D;ENSP00000421318:G97D|ENSP00000341918:V46M	ENSP00000264668:G124D|ENSP00000341918:V46M	G|V	+|+	2|1	0|0	MTRR|MTRR	7928377|7928377	1.000000|1.000000	0.71417|0.71417	0.795000|0.795000	0.32087|0.32087	0.062000|0.062000	0.15995|0.15995	8.304000|8.304000	0.89958|0.89958	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.348	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1		
MARCH6	10299	broad.mit.edu	37	5	10423856	10423857	+	Frame_Shift_Ins	INS	-	-	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:10423856_10423857insT	ENST00000274140.5	+	23	2425_2426	c.2293_2294insT	c.(2293-2295)cttfs	p.L765fs	MARCH6_ENST00000449913.2_Frame_Shift_Ins_p.L717fs|MARCH6_ENST00000503788.1_Frame_Shift_Ins_p.L660fs|MARCH6_ENST00000510792.1_Frame_Shift_Ins_p.L463fs	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	765					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGACTGGGCACTTGGAGTCCTG	0.361																																						uc003jet.1																			0				ovary(1)|breast(1)	2						c.(2293-2295)CTTfs		membrane-associated ring finger (C3HC4) 6																																				SO:0001589	frameshift_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10423856_10423857insT	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2295dupT	5.37:g.10423858_10423858dupT	ENSP00000274140:p.Leu765fs					MARCH6_uc011cmu.1_Frame_Shift_Ins_p.L717fs|MARCH6_uc003jeu.1_Frame_Shift_Ins_p.L463fs|MARCH6_uc011cmv.1_Frame_Shift_Ins_p.L660fs	p.L765fs	NM_005885	NP_005876	O60337	MARH6_HUMAN			23	2476_2477	+			765			Helical; (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Frame_Shift_Ins	INS	ENST00000274140.5	37	c.2293_2294insT	CCDS34135.1																																																																																				0.361	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	
RAB24	53917	broad.mit.edu	37	5	176729179	176729179	+	Splice_Site	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:176729179T>C	ENST00000303251.6	-	6	853	c.434A>G	c.(433-435)aAt>aGt	p.N145S	RAB24_ENST00000393611.2_Splice_Site_p.N145S|PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000303270.6_Splice_Site_p.N116S	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	145					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTTTGATATCTGTAAAGAG	0.502																																						uc003mfv.2																			0					0						c.(433-435)AAT>AGT		RAB24 gene product							56.0	58.0	58.0					5																	176729179		2203	4300	6503	SO:0001630	splice_region_variant	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176729179T>C	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.434-1A>G	5.37:g.176729179T>C						RAB24_uc003mfu.2_Missense_Mutation_p.N116S|RAB24_uc003mfw.2_Missense_Mutation_p.N145S|PRELID1_uc003mfx.2_5'Flank|PRELID1_uc003mfy.2_5'Flank	p.N145S	NM_130781	NP_570137	Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	803	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	145					Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	c.434A>G	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399995	0.42613	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.75477	-0.94;-0.94;-0.94	4.73	4.73	0.59995	Small GTP-binding protein domain (1);	0.268464	0.34603	N	0.003839	T	0.50309	0.1608	N	0.02697	-0.525	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.48210	-0.9055	10	0.30078	T	0.28	.	12.933	0.58296	0.0:0.0:0.0:1.0	.	145;116	Q969Q5;F8W8H5	RAB24_HUMAN;.	S	145;145;116	ENSP00000377235:N145S;ENSP00000304376:N145S;ENSP00000302085:N116S	ENSP00000304376:N145S	N	-	2	0	RAB24	176661785	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.583000	0.74053	1.994000	0.58287	0.459000	0.35465	AAT		0.502	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781	Missense_Mutation
HUS1B	135458	broad.mit.edu	37	6	656375	656375	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:656375G>A	ENST00000380907.2	-	1	588	c.570C>T	c.(568-570)acC>acT	p.T190T	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	190					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CTATACTCAGGGTCATCCTGC	0.562																																						uc003mtg.2																			0					0						c.(568-570)ACC>ACT		HUS1 checkpoint protein B							88.0	97.0	94.0					6																	656375		2203	4300	6503	SO:0001819	synonymous_variant	135458							g.chr6:656375G>A	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.570C>T	6.37:g.656375G>A						EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	p.T190T	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	590	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	190					Q5T4Z2	Silent	SNP	ENST00000380907.2	37	c.570C>T	CCDS4470.1																																																																																				0.562	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959	
TTBK1	84630	broad.mit.edu	37	6	43250498	43250498	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:43250498G>T	ENST00000259750.4	+	14	2103	c.2020G>T	c.(2020-2022)Ggc>Tgc	p.G674C		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	674					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGGTGAATGGCCTCCCACG	0.612																																						uc003ouq.1																			0		p.G674G(1)		lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(2020-2022)GGC>TGC		tau tubulin kinase 1							90.0	98.0	96.0					6																	43250498		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43250498G>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2020G>T	6.37:g.43250498G>T	ENSP00000259750:p.Gly674Cys						p.G674C	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	2299	+			674					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.2020G>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.871076	0.51695	.	.	ENSG00000146216	ENST00000259750	T	0.61392	0.11	4.27	4.27	0.50696	.	0.502823	0.17589	N	0.168834	T	0.59945	0.2231	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64381	-0.6421	10	0.87932	D	0	.	9.3576	0.38175	0.1027:0.0:0.8973:0.0	.	674	Q5TCY1	TTBK1_HUMAN	C	674	ENSP00000259750:G674C	ENSP00000259750:G674C	G	+	1	0	TTBK1	43358476	1.000000	0.71417	0.848000	0.33437	0.970000	0.65996	4.621000	0.61233	1.918000	0.55548	0.555000	0.69702	GGC		0.612	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
SYNE1	23345	broad.mit.edu	37	6	152779932	152779932	+	Missense_Mutation	SNP	C	C	G	rs191723029	byFrequency	TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:152779932C>G	ENST00000367255.5	-	22	3129	c.2528G>C	c.(2527-2529)cGt>cCt	p.R843P	SYNE1_ENST00000413186.2_Missense_Mutation_p.R843P|SYNE1_ENST00000423061.1_Missense_Mutation_p.R850P|SYNE1_ENST00000448038.1_Missense_Mutation_p.R850P|SYNE1_ENST00000341594.5_Missense_Mutation_p.R850P|SYNE1_ENST00000367248.3_Missense_Mutation_p.R833P|SYNE1_ENST00000367253.4_Missense_Mutation_p.R843P|SYNE1_ENST00000265368.4_Missense_Mutation_p.R843P|SYNE1_ENST00000495090.2_Missense_Mutation_p.R410P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	843					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGTGCCTCACGCTCAAGAAC	0.403										HNSCC(10;0.0054)																												uc010kiw.2																			0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(2527-2529)CGT>CCT		spectrin repeat containing, nuclear envelope 1							123.0	115.0	117.0					6																	152779932		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152779932C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2528G>C	6.37:g.152779932C>G	ENSP00000356224:p.Arg843Pro	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R850P|SYNE1_uc003qou.3_Missense_Mutation_p.R843P|SYNE1_uc010kjb.1_Missense_Mutation_p.R826P|SYNE1_uc003qow.2_Missense_Mutation_p.R138P|SYNE1_uc003qox.1_Missense_Mutation_p.R359P|SYNE1_uc003qoz.2_Missense_Mutation_p.R275P|SYNE1_uc003qoy.2_Missense_Mutation_p.R410P	p.R843P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	22	3130	-		Ovarian(120;0.0955)	843			Cytoplasmic (Potential).|Potential.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2528G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371239	0.24771	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.49139	1.35;1.35;1.35;1.35;0.79;1.35;1.35;1.35;1.35	5.34	-5.98	0.02220	.	0.833365	0.10450	N	0.673167	T	0.10121	0.0248	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.001;0.0;0.001;0.001;0.002;0.0;0.002	T	0.29058	-1.0024	10	0.27785	T	0.31	.	12.4994	0.55948	0.0:0.5636:0.115:0.3214	.	826;843;410;833;843;843;850	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	P	843;850;843;850;850;843;833;843;410	ENSP00000356224:R843P;ENSP00000396024:R850P;ENSP00000265368:R843P;ENSP00000390975:R850P;ENSP00000341887:R850P;ENSP00000356222:R843P;ENSP00000356217:R833P;ENSP00000414510:R843P;ENSP00000438508:R410P	ENSP00000265368:R843P	R	-	2	0	SYNE1	152821625	0.009000	0.17119	0.029000	0.17559	0.931000	0.56810	-0.003000	0.12901	-0.896000	0.03915	-0.300000	0.09419	CGT		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
GIMAP2	26157	broad.mit.edu	37	7	150390248	150390248	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr7:150390248C>T	ENST00000223293.5	+	3	968	c.874C>T	c.(874-876)Cac>Tac	p.H292Y		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	292						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGCATACTGCACAGCATGTG	0.328																																						uc003who.2																			0				skin(1)	1						c.(874-876)CAC>TAC		GTPase, IMAP family member 2							118.0	109.0	112.0					7																	150390248		2203	4300	6503	SO:0001583	missense	26157					integral to membrane	GTP binding	g.chr7:150390248C>T	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.874C>T	7.37:g.150390248C>T	ENSP00000223293:p.His292Tyr					GIMAP1_uc003whp.2_Intron	p.H292Y	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	962	+			292					Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	c.874C>T	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.809161	0.00606	.	.	ENSG00000106560	ENST00000223293	T	0.05996	3.36	3.32	-6.63	0.01807	.	3.919420	0.00783	N	0.001294	T	0.02688	0.0081	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45234	-0.9275	10	0.02654	T	1	.	10.8793	0.46929	0.0:0.7016:0.0:0.2984	.	292	Q9UG22	GIMA2_HUMAN	Y	292	ENSP00000223293:H292Y	ENSP00000223293:H292Y	H	+	1	0	GIMAP2	150021181	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.890000	0.04140	-1.317000	0.02292	-1.105000	0.02106	CAC		0.328	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660	
GIMAP5	55340	broad.mit.edu	37	7	150440111	150440111	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr7:150440111T>A	ENST00000358647.3	+	3	1251	c.884T>A	c.(883-885)cTt>cAt	p.L295H	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	295					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGCATACTTTTTTTCATT	0.368																																						uc003whr.1																			0				ovary(1)|central_nervous_system(1)	2						c.(883-885)CTT>CAT		GTPase, IMAP family member 5							48.0	43.0	45.0					7																	150440111		2202	4299	6501	SO:0001583	missense	55340					integral to membrane|mitochondrial outer membrane	GTP binding	g.chr7:150440111T>A	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.884T>A	7.37:g.150440111T>A	ENSP00000351473:p.Leu295His					GIMAP5_uc010lpu.2_Missense_Mutation_p.L153H	p.L295H	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1236	+			295			Helical; Anchor for type IV membrane protein; (Potential).		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.884T>A	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329848	0.24167	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.06849	3.25	3.72	-0.0938	0.13647	.	2.059020	0.02069	N	0.051394	T	0.06781	0.0173	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	B	0.37550	0.253	T	0.36432	-0.9748	10	0.87932	D	0	.	6.0289	0.19669	0.0:0.4055:0.0:0.5945	.	295	Q96F15	GIMA5_HUMAN	H	295;331	ENSP00000351473:L295H	ENSP00000351473:L295H	L	+	2	0	GIMAP5	150071044	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.599000	0.24089	0.108000	0.17862	0.377000	0.23210	CTT		0.368	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384	
XKR5	389610	broad.mit.edu	37	8	6681094	6681094	+	RNA	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr8:6681094T>A	ENST00000518724.1	-	0	736							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGAACCAGACTCAGCACGCGG	0.542																																						uc003wqp.2																			0					0						c.(586-588)AGT>TGT		XK-related protein 5a							40.0	46.0	44.0					8																	6681094		2017	4172	6189			389610					integral to membrane		g.chr8:6681094T>A	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6681094T>A						XKR5_uc003wqq.2_Missense_Mutation_p.S33C|XKR5_uc003wqr.1_RNA	p.S196C	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	4	608	-			196					Q5GH74	Missense_Mutation	SNP	ENST00000518724.1	37	c.586A>T																																																																																					0.542	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411	
Unknown	0	broad.mit.edu	37	8	73150397	73150397	+	IGR	SNP	A	A	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr8:73150397A>T								RP11-142A23.1 (35893 upstream) : RNA5SP271 (119565 downstream)																							GTTATCCACAAAGTTGATGTG	0.403																																						uc010lzg.2																			0											c.(310-312)TTT>TAT		Homo sapiens cDNA, FLJ99767.																																				SO:0001628	intergenic_variant	0							g.chr8:73150397A>T																													8.37:g.73150397A>T							p.F104Y							7	847	-									Missense_Mutation	SNP		37	c.311T>A																																																																																				0	0.403								
PTPRD	5789	broad.mit.edu	37	9	8389318	8389318	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:8389318C>T	ENST00000381196.4	-	34	4843	c.4300G>A	c.(4300-4302)Gaa>Aaa	p.E1434K	PTPRD_ENST00000360074.4_Missense_Mutation_p.E1421K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1412K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1027K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E1027K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E1024K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1434K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1434K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1027K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1024K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1028K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1434	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAATGTTTCGGGGAGAGAT	0.418										TSP Lung(15;0.13)																												uc003zkk.2																			0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(4300-4302)GAA>AAA		protein tyrosine phosphatase, receptor type, D							178.0	170.0	173.0					9																	8389318		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8389318C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4300G>A	9.37:g.8389318C>T	ENSP00000370593:p.Glu1434Lys	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.E1028K|PTPRD_uc003zkq.2_Missense_Mutation_p.E1027K|PTPRD_uc003zkr.2_Missense_Mutation_p.E1018K|PTPRD_uc003zks.2_Missense_Mutation_p.E1027K|PTPRD_uc003zkl.2_Missense_Mutation_p.E1425K|PTPRD_uc003zkm.2_Missense_Mutation_p.E1421K|PTPRD_uc003zkn.2_Missense_Mutation_p.E1023K|PTPRD_uc003zko.2_Missense_Mutation_p.E1024K	p.E1434K	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	36	5011	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1434			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4300G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629974	0.96671	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.58428	1.81	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0;0.996;1.0;1.0;1.0	P;P;P;P;D;P;D;D;D	0.85130	0.629;0.629;0.629;0.629;0.976;0.496;0.986;0.997;0.978	T	0.43376	-0.9395	9	.	.	.	.	20.119	0.97953	0.0:1.0:0.0:0.0	.	1027;1018;1027;1028;1024;1024;1421;1434;1434	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	1434;1434;1421;1412;1028;1027;1024;1024;905;1434;1027;1027	ENSP00000370593:E1434K;ENSP00000348812:E1434K;ENSP00000353187:E1421K;ENSP00000351293:E1412K;ENSP00000347373:E1028K;ENSP00000380741:E1027K;ENSP00000380735:E1024K;ENSP00000440515:E1024K;ENSP00000438164:E1434K;ENSP00000417093:E1027K;ENSP00000380731:E1027K	.	E	-	1	0	PTPRD	8379318	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.776000	0.85560	2.763000	0.94921	0.555000	0.69702	GAA		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
SLC28A3	64078	broad.mit.edu	37	9	86924627	86924627	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:86924627A>T	ENST00000376238.4	-	3	208	c.159T>A	c.(157-159)gaT>gaA	p.D53E	SLC28A3_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	53					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	CCTGTTCTTCATCCTGGAAAT	0.428																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2																			0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(157-159)GAT>GAA		concentrative Na+-nucleoside cotransporter							237.0	195.0	209.0					9																	86924627		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86924627A>T	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.159T>A	9.37:g.86924627A>T	ENSP00000365413:p.Asp53Glu					SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Missense_Mutation_p.D53E|SLC28A3_uc010mqb.2_5'UTR	p.D53E	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			3	284	-			53			Cytoplasmic (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.159T>A	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	A	2.664	-0.279038	0.05642	.	.	ENSG00000197506	ENST00000376238	T	0.01516	4.81	5.18	-10.4	0.00318	.	0.914555	0.09227	N	0.831143	T	0.00967	0.0032	L	0.31294	0.92	0.37836	D	0.928905	B	0.02656	0.0	B	0.01281	0.0	T	0.56251	-0.8010	10	0.02654	T	1	2.7368	4.312	0.10976	0.0888:0.1741:0.3697:0.3674	.	53	Q9HAS3	S28A3_HUMAN	E	53	ENSP00000365413:D53E	ENSP00000365413:D53E	D	-	3	2	SLC28A3	86114447	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.074000	0.00300	-4.706000	0.00035	-0.411000	0.06167	GAT		0.428	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	
KIAA1958	158405	broad.mit.edu	37	9	115336719	115336719	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:115336719G>T	ENST00000337530.6	+	2	655	c.359G>T	c.(358-360)tGt>tTt	p.C120F	KIAA1958_ENST00000374244.3_Missense_Mutation_p.C120F|KIAA1958_ENST00000536272.1_Missense_Mutation_p.C120F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	120										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGAGACTCTTGTGACTTCTCC	0.473																																						uc004bgf.1																			0				skin(1)	1						c.(358-360)TGT>TTT		hypothetical protein LOC158405							159.0	153.0	155.0					9																	115336719		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115336719G>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.359G>T	9.37:g.115336719G>T	ENSP00000336940:p.Cys120Phe					KIAA1958_uc011lwx.1_Missense_Mutation_p.C120F	p.C120F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN			2	534	+			120					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.359G>T	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581743	0.65992	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.80764	0.994;0.986	T	0.68633	-0.5357	9	0.62326	D	0.03	-25.8562	20.6439	0.99570	0.0:0.0:1.0:0.0	.	120;120	B7ZKW6;Q8N8K9	.;K1958_HUMAN	F	120	.	ENSP00000336940:C120F	C	+	2	0	KIAA1958	114376540	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.193000	0.89719	2.884000	0.98904	0.655000	0.94253	TGT		0.473	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465	
NUP62CL	54830	broad.mit.edu	37	X	106397360	106397360	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:106397360G>C	ENST00000372466.4	-	5	562	c.311C>G	c.(310-312)gCt>gGt	p.A104G	NUP62CL_ENST00000372461.3_Intron	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	104					protein transport (GO:0015031)	nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			lung(4)	4						ATGGTCCCAAGCATTGACCTG	0.388																																						uc004ena.2																			0					0						c.(310-312)GCT>GGT		nucleoporin 62kDa C-terminal like							106.0	90.0	95.0					X																	106397360		2203	4300	6503	SO:0001583	missense	54830				protein transport	nuclear pore	structural constituent of nuclear pore	g.chrX:106397360G>C	AK000137	CCDS14527.1	Xq22.3	2008-02-05			ENSG00000198088	ENSG00000198088			25960	protein-coding gene	gene with protein product						12477932	Standard	NM_017681		Approved	FLJ20130	uc004ena.3	Q9H1M0	OTTHUMG00000022159	ENST00000372466.4:c.311C>G	X.37:g.106397360G>C	ENSP00000361544:p.Ala104Gly					NUP62CL_uc004enb.2_Intron	p.A104G	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN			5	570	-			104					D3DUX4|Q8WVL6|Q9NXP2	Missense_Mutation	SNP	ENST00000372466.4	37	c.311C>G	CCDS14527.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.13|14.13	2.444068|2.444068	0.43429|0.43429	.|.	.|.	ENSG00000198088|ENSG00000198088	ENST00000372466;ENST00000372465;ENST00000421752|ENST00000432145	T;T|.	0.78126|.	-1.15;-1.15|.	5.81|5.81	0.0799|0.0799	0.14418|0.14418	Nucleoporin, NSP1-like, C-terminal (2);|.	0.310878|.	0.38837|.	N|.	0.001557|.	T|T	0.72195|0.72195	0.3430|0.3430	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	D|.	0.60160|.	0.987|.	D|.	0.67231|.	0.95|.	T|T	0.67658|0.67658	-0.5614|-0.5614	10|5	0.46703|.	T|.	0.11|.	0.0776|0.0776	7.1351|7.1351	0.25523|0.25523	0.0939:0.0:0.3712:0.5349|0.0939:0.0:0.3712:0.5349	.|.	104|.	Q9H1M0|.	N62CL_HUMAN|.	G|W	104|35	ENSP00000361544:A104G;ENSP00000405906:A104G|.	ENSP00000361543:A104G|.	A|C	-|-	2|3	0|2	NUP62CL|NUP62CL	106284016|106284016	1.000000|1.000000	0.71417|0.71417	0.029000|0.029000	0.17559|0.17559	0.213000|0.213000	0.24496|0.24496	3.261000|3.261000	0.51530|0.51530	-0.461000|-0.461000	0.06993|0.06993	0.523000|0.523000	0.50628|0.50628	GCT|TGC		0.388	NUP62CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057828.1	NM_017681	
UBE2NL	389898	broad.mit.edu	37	X	142967486	142967487	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:142967486_142967487AG>TA	ENST00000370494.1	+	1	314_315	c.284_285AG>TA	c.(283-285)aAG>aTA	p.K95I		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	95						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAAAGATAAGTGGTCCCCAG	0.421																																						uc004fca.2																			0					0						c.(283-285)AAG>ATA		ubiquitin-conjugating enzyme E2N-like																																				SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967486_142967487AG>TA			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	Exception_encountered	X.37:g.142967486_142967487delinsTA	ENSP00000359525:p.Lys95Ile						p.K95I	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	314_315	+	Acute lymphoblastic leukemia(192;6.56e-05)		95					E9KL27	Missense_Mutation	DNP	ENST00000370494.1	37	c.284_285AG>TA	CCDS35420.1																																																																																				0.421	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989	
GABRQ	55879	broad.mit.edu	37	X	151808911	151808911	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:151808911G>A	ENST00000370306.2	+	2	242	c.222G>A	c.(220-222)ctG>ctA	p.L74L		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	74					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGTCCGCCTGAGACCGAATT	0.463																																						uc004ffp.1																			0				ovary(2)|pancreas(1)	3						c.(220-222)CTG>CTA		gamma-aminobutyric acid (GABA) receptor, theta							154.0	131.0	139.0					X																	151808911		2203	4300	6503	SO:0001819	synonymous_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151808911G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.222G>A	X.37:g.151808911G>A							p.L74L	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			2	242	+	Acute lymphoblastic leukemia(192;6.56e-05)		74			Extracellular (Potential).		A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	c.222G>A	CCDS14707.1																																																																																				0.463	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
