#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
ARHGEF16	27237	broad.mit.edu	37	1	3394482	3394482	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:3394482G>C	ENST00000378378.4	+	11	1922	c.1517G>C	c.(1516-1518)gGa>gCa	p.G506A	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.G218A|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.G210A|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.G218A	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	506	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGAAGCGCGGAGAGCTGTTC	0.592																																						uc001akg.3		NaN																	0				ovary(1)	1						c.(1516-1518)GGA>GCA		Rho guanine exchange factor 16							63.0	67.0	66.0					1																	3394482		2187	4286	6473	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3394482G>C	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1517G>C	1.37:g.3394482G>C	ENSP00000367629:p.Gly506Ala					ARHGEF16_uc001aki.2_Missense_Mutation_p.G218A|ARHGEF16_uc001akj.2_Missense_Mutation_p.G218A|ARHGEF16_uc010nzh.1_Missense_Mutation_p.G210A	p.G506A	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	11	1765	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	506			PH.		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1517G>C	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534720	0.64972	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.97059	0.9039	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97767	1.0224	10	0.87932	D	0	-46.7214	19.0977	0.93260	0.0:0.0:1.0:0.0	.	210;506	B4DJM7;Q5VV41	.;ARHGG_HUMAN	A	506;218;218;210	ENSP00000367629:G506A;ENSP00000367624:G218A;ENSP00000367622:G218A;ENSP00000408887:G210A	ENSP00000367622:G218A	G	+	2	0	ARHGEF16	3384342	1.000000	0.71417	0.303000	0.25071	0.004000	0.04260	9.692000	0.98682	2.502000	0.84385	0.557000	0.71058	GGA		0.592	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1		NM_014448		25	46	0	0	0	1	0	25	46		
ERRFI1	54206	broad.mit.edu	37	1	8073944	8073944	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:8073944G>C	ENST00000377482.5	-	4	938	c.715C>G	c.(715-717)Cca>Gca	p.P239A	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	239					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GTCTGAGGTGGAGGAGGATTT	0.468																																						uc001aoz.2		NaN																	0				ovary(1)	1						c.(715-717)CCA>GCA		mitogen-inducible gene 6 protein							55.0	56.0	56.0					1																	8073944		2203	4300	6503	SO:0001583	missense	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8073944G>C	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.715C>G	1.37:g.8073944G>C	ENSP00000366702:p.Pro239Ala					ERRFI1_uc001apa.1_Missense_Mutation_p.P164A	p.P239A	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	964	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	239					B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	c.715C>G	CCDS94.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475457	0.26511	.	.	ENSG00000116285	ENST00000377482	T	0.13196	2.61	5.26	3.35	0.38373	.	0.418242	0.26016	N	0.026845	T	0.11196	0.0273	L	0.57536	1.79	0.20074	N	0.999931	B	0.10296	0.003	B	0.08055	0.003	T	0.35301	-0.9794	10	0.09843	T	0.71	-18.4818	6.1772	0.20451	0.1588:0.1596:0.6816:0.0	.	239	Q9UJM3	ERRFI_HUMAN	A	239	ENSP00000366702:P239A	ENSP00000366702:P239A	P	-	1	0	ERRFI1	7996531	0.188000	0.23250	0.005000	0.12908	0.960000	0.62799	2.003000	0.40844	1.187000	0.43000	0.561000	0.74099	CCA		0.468	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1		NM_018948		6	44	0	0	0	1	0	6	44		
RERE	473	broad.mit.edu	37	1	8617577	8617577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:8617577C>G	ENST00000337907.3	-	6	1162	c.528G>C	c.(526-528)aaG>aaC	p.K176N	RERE_ENST00000400908.2_Missense_Mutation_p.K176N|RERE_ENST00000400907.2_Missense_Mutation_p.K176N	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	176	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGGTCCCTCTTACTCTGAA	0.438																																						uc001ape.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(526-528)AAG>AAC		atrophin-1 like protein isoform a							98.0	80.0	86.0					1																	8617577		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8617577C>G	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.528G>C	1.37:g.8617577C>G	ENSP00000338629:p.Lys176Asn					RERE_uc001apf.2_Missense_Mutation_p.K176N|RERE_uc001aph.1_Missense_Mutation_p.K176N	p.K176N	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	6	1338	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	176			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.528G>C	CCDS95.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.336385|4.336385	0.81801|0.81801	.|.	.|.	ENSG00000142599|ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908|ENST00000514428	D;D;D|.	0.87334|.	-2.24;-2.24;-2.24|.	6.03|6.03	5.11|5.11	0.69529|0.69529	Bromo adjacent homology (BAH) domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.55832|0.55832	0.1945|0.1945	L|L	0.39898|0.39898	1.24|1.24	0.49389|0.49389	D|D	0.999786|0.999786	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.49062|0.49062	-0.8978|-0.8978	9|5	0.66056|.	D|.	0.02|.	-21.4203|-21.4203	10.5864|10.5864	0.45286|0.45286	0.0:0.866:0.0:0.134|0.0:0.866:0.0:0.134	.|.	176|.	Q9P2R6|.	RERE_HUMAN|.	N|T	176|26	ENSP00000338629:K176N;ENSP00000383699:K176N;ENSP00000383700:K176N|.	ENSP00000338629:K176N|.	K|R	-|-	3|2	2|0	RERE|RERE	8540164|8540164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.162000|3.162000	0.50755|0.50755	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.438	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1				23	59	0	0	0	1	0	23	59		
CTNNBIP1	56998	broad.mit.edu	37	1	9931317	9931317	+	Missense_Mutation	SNP	C	C	G	rs574333600		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:9931317C>G	ENST00000377263.1	-	5	426	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	CTNNBIP1_ENST00000377258.1_Missense_Mutation_p.E39Q|CTNNBIP1_ENST00000537447.1_Missense_Mutation_p.E39Q|CTNNBIP1_ENST00000400904.3_Missense_Mutation_p.E39Q|CTNNBIP1_ENST00000377256.1_Missense_Mutation_p.E39Q	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	39					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGCAGGAACTCCTCCTCGCTG	0.652																																						uc001aqk.1		NaN																	0					0						c.(115-117)GAG>CAG		catenin, beta interacting protein 1							67.0	51.0	56.0					1																	9931317		2200	4293	6493	SO:0001583	missense	56998				anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding	g.chr1:9931317C>G	AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"""beta-catenin-interacting protein ICAT"", ""inhibitor of beta-catenin and Tcf-4"""	607758	"""catenin, beta-interacting protein 1"""			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.115G>C	1.37:g.9931317C>G	ENSP00000366474:p.Glu39Gln					CTNNBIP1_uc001aql.1_Missense_Mutation_p.E39Q	p.E39Q	NM_020248	NP_064633	Q9NSA3	CNBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	5	422	-		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	39					Q5T4V2	Missense_Mutation	SNP	ENST00000377263.1	37	c.115G>C	CCDS106.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439794	0.63067	.	.	ENSG00000178585	ENST00000377263;ENST00000537447;ENST00000400904;ENST00000377258;ENST00000377256	.	.	.	5.04	5.04	0.67666	.	0.069176	0.56097	U	0.000034	T	0.59959	0.2232	.	.	.	0.45621	D	0.998559	P	0.39964	0.697	P	0.45377	0.478	T	0.58244	-0.7670	7	.	.	.	-2.9902	17.1645	0.86811	0.0:1.0:0.0:0.0	.	39	Q9NSA3	CNBP1_HUMAN	Q	39	.	.	E	-	1	0	CTNNBIP1	9853904	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.137000	0.77295	2.344000	0.79699	0.313000	0.20887	GAG		0.652	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005012.1		NM_020248		2	2	0	0	0	1	0	2	2		
C1orf127	148345	broad.mit.edu	37	1	11008292	11008292	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11008292T>C	ENST00000377008.4	-	11	1845	c.1399A>G	c.(1399-1401)Agg>Ggg	p.R467G	C1orf127_ENST00000377004.4_Missense_Mutation_p.R634G			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	467										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCCCCCTCCCTGGGGAGACCA	0.637																																						uc010oao.1		NaN																	0				ovary(1)	1						c.(1453-1455)AGG>GGG		hypothetical protein LOC148345							53.0	62.0	59.0					1																	11008292		2203	4300	6503	SO:0001583	missense	148345							g.chr1:11008292T>C	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1399A>G	1.37:g.11008292T>C	ENSP00000366207:p.Arg467Gly					C1orf127_uc001arr.1_Missense_Mutation_p.R467G|C1orf127_uc001ars.1_Missense_Mutation_p.R459G	p.R485G	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	8	1458	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	485					A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.1453A>G		.	.	.	.	.	.	.	.	.	.	T	8.013	0.757925	0.15846	.	.	ENSG00000175262	ENST00000377004;ENST00000377008	T;T	0.23754	1.89;1.89	4.68	-9.35	0.00633	.	2.156520	0.01921	N	0.040504	T	0.10208	0.0250	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.15235	-1.0444	10	0.23891	T	0.37	3.216	2.1263	0.03739	0.2425:0.1053:0.4033:0.2489	.	485;459;467	B7ZLG7;Q8N9H9-2;Q8N9H9	.;.;CA127_HUMAN	G	634;467	ENSP00000366203:R634G;ENSP00000366207:R467G	ENSP00000366203:R634G	R	-	1	2	C1orf127	10930879	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-2.657000	0.00853	-2.289000	0.00667	-0.415000	0.06103	AGG		0.637	C1orf127-202	KNOWN	basic	protein_coding	protein_coding			NM_173507		21	76	0	0	0	1	0	21	76		
TARDBP	23435	broad.mit.edu	37	1	11082329	11082329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11082329G>A	ENST00000240185.3	+	6	977	c.863G>A	c.(862-864)gGa>gAa	p.G288E	TARDBP_ENST00000315091.3_Intron|TARDBP_ENST00000439080.2_Missense_Mutation_p.G172E	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	288	Gly-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AATCAGGGTGGATTTGGTAAT	0.453																																						uc001art.2		NaN																	0				ovary(2)	2						c.(862-864)GGA>GAA		TAR DNA binding protein							87.0	87.0	87.0					1																	11082329		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11082329G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.863G>A	1.37:g.11082329G>A	ENSP00000240185:p.Gly288Glu					TARDBP_uc010oap.1_Missense_Mutation_p.G172E	p.G288E	NM_007375	NP_031401	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	6	997	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	288			Gly-rich.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.863G>A	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442808	0.83993	.	.	ENSG00000120948	ENST00000240185;ENST00000439080	T;T	0.76060	-0.99;-0.99	5.81	5.81	0.92471	.	0.045464	0.85682	D	0.000000	T	0.79621	0.4477	L	0.47716	1.5	0.54753	D	0.999984	D;P	0.69078	0.997;0.906	D;B	0.64237	0.923;0.42	T	0.76176	-0.3055	10	0.30854	T	0.27	-15.5308	13.298	0.60309	0.0719:0.0:0.9281:0.0	.	172;288	B4DJ45;Q13148	.;TADBP_HUMAN	E	288;172	ENSP00000240185:G288E;ENSP00000404666:G172E	ENSP00000240185:G288E	G	+	2	0	TARDBP	11004916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.504000	0.73704	2.746000	0.94184	0.655000	0.94253	GGA		0.453	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1		NM_007375		14	73	0	0	0	1	0	14	73		
TARDBP	23435	broad.mit.edu	37	1	11082344	11082344	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11082344G>C	ENST00000240185.3	+	6	992	c.878G>C	c.(877-879)aGa>aCa	p.R293T	TARDBP_ENST00000315091.3_Intron|TARDBP_ENST00000439080.2_Missense_Mutation_p.R177T	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	293	Gly-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GGTAATAGCAGAGGGGGTGGA	0.483																																						uc001art.2		NaN																	0				ovary(2)	2						c.(877-879)AGA>ACA		TAR DNA binding protein							84.0	84.0	84.0					1																	11082344		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11082344G>C	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.878G>C	1.37:g.11082344G>C	ENSP00000240185:p.Arg293Thr					TARDBP_uc010oap.1_Missense_Mutation_p.R177T	p.R293T	NM_007375	NP_031401	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	6	1012	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	293			Gly-rich.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.878G>C	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799749	0.50208	.	.	ENSG00000120948	ENST00000240185;ENST00000439080	D;D	0.96232	-3.95;-3.95	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.95887	0.8661	M	0.66939	2.045	0.54753	D	0.999985	P;D	0.53885	0.675;0.963	B;P	0.46885	0.173;0.53	D	0.94118	0.7377	10	0.12103	T	0.63	-31.9571	20.0825	0.97783	0.0:0.0:1.0:0.0	.	177;293	B4DJ45;Q13148	.;TADBP_HUMAN	T	293;177	ENSP00000240185:R293T;ENSP00000404666:R177T	ENSP00000240185:R293T	R	+	2	0	TARDBP	11004931	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.522000	0.98032	2.746000	0.94184	0.655000	0.94253	AGA		0.483	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1		NM_007375		11	71	0	0	0	1	0	11	71		
CLCN6	1185	broad.mit.edu	37	1	11900229	11900229	+	Silent	SNP	C	C	T	rs184749729		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11900229C>T	ENST00000346436.6	+	23	2611	c.2559C>T	c.(2557-2559)ctC>ctT	p.L853L	NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.L831L	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	853	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGCACAACCTCACCTATGAAT	0.587																																						uc001ate.3		NaN																	0					0						c.(2557-2559)CTC>CTT		chloride channel 6 isoform ClC-6a							116.0	110.0	112.0					1																	11900229		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11900229C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2559C>T	1.37:g.11900229C>T						CLCN6_uc010oat.1_Silent_p.L569L|CLCN6_uc010oau.1_Silent_p.L831L|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oaz.1_5'Flank|CLCN6_uc010oba.1_5'Flank	p.L853L	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	23	2672	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	853			CBS 2.|Cytoplasmic (By similarity).		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.2559C>T	CCDS138.1																																																																																				0.587	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2		NM_001286		39	88	0	0	0	1	0	39	88		
VPS13D	55187	broad.mit.edu	37	1	12446370	12446370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12446370G>A	ENST00000358136.3	+	60	11741	c.11611G>A	c.(11611-11613)Gaa>Aaa	p.E3871K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3846K|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCACATGCTTGAACTCAGCAT	0.428																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(11611-11613)GAA>AAA		vacuolar protein sorting 13D isoform 1							111.0	108.0	109.0					1																	12446370		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12446370G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11611G>A	1.37:g.12446370G>A	ENSP00000350854:p.Glu3871Lys					VPS13D_uc001atw.2_Missense_Mutation_p.E3846K|VPS13D_uc001atx.2_Missense_Mutation_p.E3058K|VPS13D_uc009vnl.2_RNA	p.E3871K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	60	11752	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3870						Missense_Mutation	SNP	ENST00000358136.3	37	c.11611G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352173	0.95830	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.52295	0.67;0.67	6.05	6.05	0.98169	.	0.102047	0.64402	D	0.000001	T	0.55049	0.1896	L	0.55481	1.735	0.80722	D	1	D;D	0.57257	0.978;0.979	P;P	0.53102	0.717;0.718	T	0.44757	-0.9307	10	0.06891	T	0.86	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	3846;3870	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	3846;3871	ENSP00000348666:E3846K;ENSP00000350854:E3871K	ENSP00000348666:E3846K	E	+	1	0	VPS13D	12368957	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.843000	0.92142	2.880000	0.98712	0.655000	0.94253	GAA		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		46	93	0	0	0	1	0	46	93		
PRAMEF12	390999	broad.mit.edu	37	1	12836179	12836179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12836179C>T	ENST00000357726.4	+	2	808	c.781C>T	c.(781-783)Cag>Tag	p.Q261*		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	261					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCACCTCTCAGTTCCTCAA	0.507																																						uc001aui.2		NaN																	0				ovary(3)	3						c.(781-783)CAG>TAG		PRAME family member 12							131.0	136.0	134.0					1																	12836179		2203	4300	6503	SO:0001587	stop_gained	390999							g.chr1:12836179C>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.781C>T	1.37:g.12836179C>T	ENSP00000350358:p.Gln261*						p.Q261*	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	808	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	261						Nonsense_Mutation	SNP	ENST00000357726.4	37	c.781C>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	17.66	3.444564	0.63178	.	.	ENSG00000116726	ENST00000357726	.	.	.	2.79	2.79	0.32731	.	0.224051	0.38436	N	0.001690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.2398	0.37489	0.0:1.0:0.0:0.0	.	.	.	.	X	261	.	ENSP00000350358:Q261X	Q	+	1	0	PRAMEF12	12758766	0.001000	0.12720	0.041000	0.18516	0.227000	0.25037	0.608000	0.24223	1.856000	0.53863	0.305000	0.20034	CAG		0.507	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1		XM_372760		51	127	0	0	0	1	0	51	127		
PRAMEF11	440560	broad.mit.edu	37	1	12885303	12885303	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12885303C>T	ENST00000535591.1	-	4	1003	c.808G>A	c.(808-810)Gac>Aac	p.D270N	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	270					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCTTCAAGTCTGATTCCAAA	0.468																																						uc001auk.2		NaN																	0					0						c.(808-810)GAC>AAC		PRAME family member 11							51.0	32.0	39.0					1																	12885303		571	1118	1689	SO:0001583	missense	440560							g.chr1:12885303C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.808G>A	1.37:g.12885303C>T	ENSP00000439551:p.Asp270Asn						p.D270N	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			4	1004	-			270			LRR 3.			Missense_Mutation	SNP	ENST00000535591.1	37	c.808G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	13.29	2.192179	0.38707	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.11930	2.73;2.73	1.52	1.52	0.23074	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	M	0.83953	2.67	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02244	-1.1189	10	0.87932	D	0	.	6.476	0.22037	0.0:1.0:0.0:0.0	.	270	O60813	PRA11_HUMAN	N	270;311;270	ENSP00000439551:D270N;ENSP00000391839:D270N	ENSP00000328783:D311N	D	-	1	0	PRAMEF11	12807890	0.223000	0.23663	0.004000	0.12327	0.002000	0.02628	2.226000	0.42963	1.142000	0.42291	0.407000	0.27541	GAC		0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			XM_496341		114	300	0	0	0	1	0	114	300		
EPHA2	1969	broad.mit.edu	37	1	16459790	16459790	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:16459790C>G	ENST00000358432.5	-	11	2092	c.1938G>C	c.(1936-1938)aaG>aaC	p.K646N		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	646	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTTTCAGCGTCTTGATGGCCA	0.607																																						uc001aya.1		NaN																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(1936-1938)AAG>AAC		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						98.0	89.0	92.0					1																	16459790		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16459790C>G	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1938G>C	1.37:g.16459790C>G	ENSP00000351209:p.Lys646Asn						p.K646N	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	11	2075	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	646			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).	ATP (By similarity).	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1938G>C	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860014	0.91433	.	.	ENSG00000142627	ENST00000358432	D	0.86297	-2.1	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.106321	0.41823	D	0.000812	D	0.95452	0.8523	H	0.96662	3.86	0.80722	D	1	D	0.71674	0.998	P	0.61070	0.883	D	0.96802	0.9590	10	0.87932	D	0	.	18.0794	0.89438	0.0:1.0:0.0:0.0	.	646	P29317	EPHA2_HUMAN	N	646	ENSP00000351209:K646N	ENSP00000351209:K646N	K	-	3	2	EPHA2	16332377	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	2.197000	0.42696	2.635000	0.89317	0.650000	0.86243	AAG		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1		NM_004431		9	84	0	0	0	1	0	9	84		
FBXO42	54455	broad.mit.edu	37	1	16641900	16641900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:16641900G>A	ENST00000375592.3	-	2	230	c.14C>T	c.(13-15)tCg>tTg	p.S5L	FBXO42_ENST00000478089.1_5'Flank	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	5										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTCACTGTCCGAGGAGCTGGC	0.458																																						uc001ayg.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(13-15)TCA>TTA		F-box protein 42							80.0	68.0	72.0					1																	16641900		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16641900G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.14C>T	1.37:g.16641900G>A	ENSP00000364742:p.Ser5Leu					FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.S5L	p.S5L	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	2	230	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	5					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.14C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250951	0.59212	.	.	ENSG00000037637	ENST00000375592	T	0.04275	3.66	5.81	5.81	0.92471	.	0.205302	0.43416	D	0.000576	T	0.03695	0.0105	N	0.19112	0.55	0.45139	D	0.998151	P	0.47253	0.892	B	0.27262	0.078	T	0.49735	-0.8908	10	0.72032	D	0.01	-11.4869	19.0543	0.93056	0.0:0.0:1.0:0.0	.	5	Q6P3S6	FBX42_HUMAN	L	5	ENSP00000364742:S5L	ENSP00000364742:S5L	S	-	2	0	FBXO42	16514487	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	5.533000	0.67160	2.739000	0.93911	0.563000	0.77884	TCG		0.458	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1				8	55	0	0	0	1	0	8	55		
KLHDC7A	127707	broad.mit.edu	37	1	18808297	18808297	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:18808297C>T	ENST00000400664.1	+	1	874	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	274						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGCATTTCATACAGAAGG	0.592																																						uc001bax.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(820-822)TTC>TTT		kelch domain containing 7A							80.0	83.0	82.0					1																	18808297		2203	4300	6503	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18808297C>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.822C>T	1.37:g.18808297C>T						KLHDC7A_uc009vpg.2_Silent_p.F56F	p.F274F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	874	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	274					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.822C>T	CCDS185.2																																																																																				0.592	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3		NM_152375		21	133	0	0	0	1	0	21	133		
SH2D5	400745	broad.mit.edu	37	1	21048338	21048338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:21048338G>A	ENST00000444387.2	-	10	1616	c.1219C>T	c.(1219-1221)Ctc>Ttc	p.L407F	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Missense_Mutation_p.L323F	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	407										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGGGCCGGAGAGTCCGGGGC	0.701																																						uc001bdt.1		NaN																	0					0						c.(967-969)CTC>TTC		SH2 domain containing 5 isoform 2							12.0	15.0	14.0					1																	21048338		1857	4073	5930	SO:0001583	missense	400745							g.chr1:21048338G>A	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.1219C>T	1.37:g.21048338G>A	ENSP00000406026:p.Leu407Phe					SH2D5_uc009vpy.1_Missense_Mutation_p.L407F|SH2D5_uc001bdu.1_RNA	p.L323F	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	9	1592	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	323					B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	ENST00000444387.2	37	c.967C>T	CCDS44080.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970904	0.53614	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	5.01	3.02	0.34903	.	0.309256	0.20888	N	0.083872	T	0.23171	0.0560	N	0.19112	0.55	0.09310	N	1	P	0.39157	0.662	B	0.40009	0.316	T	0.08330	-1.0727	9	0.54805	T	0.06	.	6.8901	0.24224	0.0822:0.0:0.6048:0.313	.	407	Q6ZV89	SH2D5_HUMAN	F	323;407	.	ENSP00000364171:L323F	L	-	1	0	SH2D5	20920925	0.970000	0.33590	0.988000	0.46212	0.661000	0.39034	1.125000	0.31332	1.090000	0.41315	-0.311000	0.09066	CTC		0.701	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2		XM_375698		5	22	0	0	0	1	0	5	22		
HSPG2	3339	broad.mit.edu	37	1	22157765	22157765	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:22157765G>A	ENST00000374695.3	-	84	11584	c.11505C>T	c.(11503-11505)ctC>ctT	p.L3835L	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3835	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCGTGAGGTTGAGGTCATGGA	0.687																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(11503-11505)CTC>CTT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						99.0	99.0	99.0					1																	22157765		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22157765G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11505C>T	1.37:g.22157765G>A						HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Silent_p.L3836L	p.L3835L	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	84	11545	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3835			Laminin G-like 1.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.11505C>T	CCDS30625.1																																																																																				0.687	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		11	73	0	0	0	1	0	11	73		
CELA3A	10136	broad.mit.edu	37	1	22333440	22333440	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:22333440C>A	ENST00000290122.3	+	5	451	c.432C>A	c.(430-432)ctC>ctA	p.L144L		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCGCCTCACTCCCTCCCGCTG	0.617																																						uc001bfl.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(430-432)CTC>CTA		elastase 3A, pancreatic preproprotein							127.0	112.0	117.0					1																	22333440		2200	4300	6500	SO:0001819	synonymous_variant	10136				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity	g.chr1:22333440C>A	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.432C>A	1.37:g.22333440C>A							p.L144L	NM_005747	NP_005738	P09093	CEL3A_HUMAN			5	451	+			144			Peptidase S1.		B1AQ53|Q9BRW4	Silent	SNP	ENST00000290122.3	37	c.432C>A	CCDS220.1																																																																																				0.617	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1		NM_005747		14	95	1	0	0.00185496	1	0.00189251	14	95		
LUZP1	7798	broad.mit.edu	37	1	23418777	23418777	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:23418777C>T	ENST00000302291.4	-	4	2779	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N	LUZP1_ENST00000418342.1_Missense_Mutation_p.D660N|LUZP1_ENST00000314174.5_Missense_Mutation_p.D660N|LUZP1_ENST00000374623.3_Missense_Mutation_p.D660N			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	660					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AAGTCATCATCTGAGTCTGGC	0.478																																						uc001bgk.2		NaN																	0					0						c.(1978-1980)GAT>AAT		leucine zipper protein 1							174.0	162.0	166.0					1																	23418777		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418777C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1978G>A	1.37:g.23418777C>T	ENSP00000303758:p.Asp660Asn					LUZP1_uc010odv.1_Missense_Mutation_p.D660N|LUZP1_uc001bgl.2_Missense_Mutation_p.D660N|LUZP1_uc001bgm.1_Missense_Mutation_p.D660N	p.D660N	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2362	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	660					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1978G>A	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590842	0.86851	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.17691	2.48;2.48;2.48;2.26	5.74	5.74	0.90152	.	0.128486	0.35207	N	0.003380	T	0.17365	0.0417	L	0.51422	1.61	0.30357	N	0.784217	B;P	0.35872	0.383;0.525	B;B	0.33454	0.081;0.164	T	0.13629	-1.0502	10	0.72032	D	0.01	.	12.2984	0.54860	0.0:0.9232:0.0:0.0768	.	660;660	Q86V48-2;Q86V48	.;LUZP1_HUMAN	N	660	ENSP00000393460:D660N;ENSP00000363752:D660N;ENSP00000303758:D660N;ENSP00000313705:D660N	ENSP00000303758:D660N	D	-	1	0	LUZP1	23291364	0.780000	0.28664	0.998000	0.56505	0.998000	0.95712	1.520000	0.35899	2.717000	0.92951	0.650000	0.86243	GAT		0.478	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		NM_033631		79	157	0	0	0	1	0	79	157		
CNR2	1269	broad.mit.edu	37	1	24201129	24201129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:24201129C>A	ENST00000374472.4	-	2	1140	c.979G>T	c.(979-981)Gag>Tag	p.E327*	CNR2_ENST00000536471.1_Nonsense_Mutation_p.E327*	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	327					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		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;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TCTTTTGCCTCTGACCCAAGG	0.552																																						uc001bif.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(979-981)GAG>TAG		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						97.0	103.0	101.0					1																	24201129		2203	4300	6503	SO:0001587	stop_gained	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201129C>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.979G>T	1.37:g.24201129C>A	ENSP00000363596:p.Glu327*						p.E327*	NM_001841	NP_001832	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	2	1106	-		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)	327			Cytoplasmic (Potential).		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Nonsense_Mutation	SNP	ENST00000374472.4	37	c.979G>T	CCDS245.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991954	0.74703	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	.	.	.	5.21	4.24	0.50183	.	0.714423	0.13751	N	0.365235	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	15.2082	0.73195	0.0:0.8589:0.1411:0.0	.	.	.	.	X	327	.	ENSP00000363596:E327X	E	-	1	0	CNR2	24073716	0.982000	0.34865	0.665000	0.29768	0.007000	0.05969	2.583000	0.46094	2.416000	0.81992	0.563000	0.77884	GAG		0.552	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1		NM_001841		9	105	1	0	0.000308642	1	0.0003185	9	105		
RHCE	6006	broad.mit.edu	37	1	25717274	25717274	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:25717274G>A	ENST00000294413.7	-	5	825	c.767C>T	c.(766-768)tCa>tTa	p.S256L	RHCE_ENST00000425135.1_Missense_Mutation_p.S256L|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.S256L|RHCE_ENST00000349320.3_Missense_Mutation_p.S240L|RHCE_ENST00000374352.2_Missense_Mutation_p.S240L|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000413854.1_Missense_Mutation_p.S256L|RHCE_ENST00000349438.4_Missense_Mutation_p.S256L|RHCE_ENST00000346452.4_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	256						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCAAGGATGACCCTGAGAT	0.527																																						uc001bkf.2		NaN																	0					0						c.(766-768)TCA>TTA		Rhesus blood group, CcEe antigens isoform 1							174.0	150.0	158.0					1																	25717274		2203	4300	6503	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25717274G>A	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.767C>T	1.37:g.25717274G>A	ENSP00000294413:p.Ser256Leu					RHCE_uc001bkg.2_Missense_Mutation_p.S256L|RHCE_uc001bkh.2_Intron|RHCE_uc001bki.2_Intron|RHCE_uc001bkj.2_Missense_Mutation_p.S240L	p.S256L	NM_020485	NP_065231	P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	5	853	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	256			Helical; (Potential).		A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	c.767C>T	CCDS30635.1	.	.	.	.	.	.	.	.	.	.	g	12.37	1.918995	0.33908	.	.	ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000349320;ENST00000294413;ENST00000447203;ENST00000349438	T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77	4.23	3.31	0.37934	Ammonium transporter AmtB-like (3);	0.137419	0.51477	D	0.000093	T	0.56396	0.1982	M	0.94101	3.495	0.24571	N	0.993929	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.91635	0.998;0.999;0.995	T	0.52946	-0.8507	10	0.87932	D	0	-12.7596	8.1911	0.31368	0.1109:0.0:0.8891:0.0	.	240;256;256	Q5VSJ9;Q5VSJ8;P18577	.;.;RHCE_HUMAN	L	256;198;240;256;256;240;256;256;256	ENSP00000415417:S256L;ENSP00000363472:S240L;ENSP00000243186:S256L;ENSP00000392809:S256L;ENSP00000311185:S240L;ENSP00000294413:S256L;ENSP00000334570:S256L	ENSP00000243186:S256L	S	-	2	0	RHCE	25589861	1.000000	0.71417	0.012000	0.15200	0.017000	0.09413	6.313000	0.72844	1.121000	0.41925	0.591000	0.81541	TCA		0.527	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2		NM_020485		21	141	0	0	0	1	0	21	141		
MAN1C1	57134	broad.mit.edu	37	1	25944772	25944772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:25944772G>A	ENST00000374332.4	+	1	814	c.484G>A	c.(484-486)Gat>Aat	p.D162N	MAN1C1_ENST00000263979.3_De_novo_Start_OutOfFrame	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	162					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AACGAGGGCCGATGAGAGTCA	0.652																																						uc001bkm.2		NaN																	0				skin(1)	1						c.(484-486)GAT>AAT		mannosidase, alpha, class 1C, member 1							16.0	12.0	13.0					1																	25944772		1841	3804	5645	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:25944772G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.484G>A	1.37:g.25944772G>A	ENSP00000363452:p.Asp162Asn					MAN1C1_uc009vry.1_5'UTR	p.D162N	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	1	814	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	162			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.484G>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	g	1.330	-0.597053	0.03771	.	.	ENSG00000117643	ENST00000374332	D	0.82619	-1.63	3.66	2.68	0.31781	.	1.124180	0.06791	N	0.787029	T	0.65270	0.2675	N	0.08118	0	0.09310	N	0.999991	B	0.12013	0.005	B	0.08055	0.003	T	0.52578	-0.8557	10	0.17369	T	0.5	.	6.3809	0.21533	0.1486:0.0:0.8514:0.0	.	162	Q9NR34	MA1C1_HUMAN	N	162	ENSP00000363452:D162N	ENSP00000363452:D162N	D	+	1	0	MAN1C1	25817359	0.001000	0.12720	0.003000	0.11579	0.015000	0.08874	0.451000	0.21779	1.000000	0.39049	-0.345000	0.07892	GAT		0.652	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3		NM_020379		5	15	0	0	0	1	0	5	15		
CNKSR1	10256	broad.mit.edu	37	1	26507029	26507029	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:26507029C>T	ENST00000374253.5	+	2	177	c.138C>T	c.(136-138)ctC>ctT	p.L46L	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Silent_p.L46L	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	46	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAAAGCCTCGAGGCTCTGG	0.622																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.3		NaN																	0				lung(1)|kidney(1)	2						c.(136-138)CTC>CTT		connector enhancer of kinase suppressor of Ras							62.0	67.0	66.0					1																	26507029		2203	4300	6503	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26507029C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.138C>T	1.37:g.26507029C>T						CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.L46L|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	p.L46L	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	2	196	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	46			SAM.		B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.138C>T																																																																																					0.622	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2		NM_006314		28	66	0	0	0	1	0	28	66		
AIM1L	55057	broad.mit.edu	37	1	26650797	26650797	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:26650797C>A	ENST00000308182.5	-	17	1877	c.1448G>T	c.(1447-1449)cGg>cTg	p.R483L	AIM1L_ENST00000527815.1_Missense_Mutation_p.R654L			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	483							carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAAATAAACCCGGCGCTGGTG	0.637																																						uc001bmd.3		NaN																	0				pancreas(1)	1						c.(1447-1449)CGG>CTG		absent in melanoma 1-like							26.0	26.0	26.0					1																	26650797		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26650797C>A			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1448G>T	1.37:g.26650797C>A	ENSP00000310435:p.Arg483Leu						p.R483L	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	17	1878	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	483					B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.1448G>T		.	.	.	.	.	.	.	.	.	.	C	17.19	3.326497	0.60743	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.75938	-0.98;-0.97	5.31	5.31	0.75309	Ricin B-related lectin (1);Beta/gamma crystallin (1);Ricin B lectin (1);	0.152135	0.49916	D	0.000138	T	0.69205	0.3085	L	0.58101	1.795	0.80722	D	1	P	0.35328	0.495	B	0.28553	0.091	T	0.73745	-0.3886	10	0.87932	D	0	.	14.5818	0.68298	0.0:0.8542:0.1458:0.0	.	483	Q8N1P7	AIM1L_HUMAN	L	654;483	ENSP00000433931:R654L;ENSP00000310435:R483L	ENSP00000310435:R483L	R	-	2	0	AIM1L	26523384	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.905000	0.48727	2.506000	0.84524	0.650000	0.86243	CGG		0.637	AIM1L-201	KNOWN	basic	protein_coding	protein_coding			NM_001039775.2		4	25	1	0	0.00909568	1	0.00919788	4	25		
PTAFR	5724	broad.mit.edu	37	1	28477356	28477356	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:28477356G>A	ENST00000373857.3	-	2	811	c.177C>T	c.(175-177)ctC>ctT	p.L59L	PTAFR_ENST00000539896.1_Silent_p.L59L|PTAFR_ENST00000305392.3_Silent_p.L59L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	59					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCCATGGTGAGGTTCACCA	0.498																																						uc001bpl.2		NaN																	0					0						c.(175-177)CTC>CTT		platelet-activating factor receptor							105.0	93.0	97.0					1																	28477356		2203	4300	6503	SO:0001819	synonymous_variant	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28477356G>A	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.177C>T	1.37:g.28477356G>A						PTAFR_uc001bpm.3_Silent_p.L59L|PTAFR_uc009vte.2_Silent_p.L59L	p.L59L	NM_000952	NP_000943	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	304	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	59			Helical; Name=2; (Potential).		A3KMC8|A8K2H5	Silent	SNP	ENST00000373857.3	37	c.177C>T	CCDS318.1																																																																																				0.498	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1		NM_000952		5	59	0	0	0	1	0	5	59		
MECR	51102	broad.mit.edu	37	1	29528545	29528545	+	Missense_Mutation	SNP	C	C	A	rs566564525		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:29528545C>A	ENST00000263702.6	-	6	691	c.666G>T	c.(664-666)caG>caT	p.Q222H	MECR_ENST00000489248.1_5'Flank|MECR_ENST00000373791.3_Missense_Mutation_p.Q146H			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	222					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CACTCAGCTTCTGGATATCAG	0.512																																						uc001brq.1		NaN																	0				ovary(1)	1						c.(664-666)CAG>CAT		trans-2-enoyl-CoA reductase, mitochondrial							171.0	174.0	173.0					1																	29528545		2203	4300	6503	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29528545C>A		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.666G>T	1.37:g.29528545C>A	ENSP00000263702:p.Gln222His					MECR_uc001brp.1_Missense_Mutation_p.Q146H|MECR_uc001brr.1_Missense_Mutation_p.Q146H|MECR_uc001brs.1_RNA|MECR_uc001brt.1_Missense_Mutation_p.Q146H|MECR_uc010ofz.1_Missense_Mutation_p.Q222H	p.Q222H	NM_016011	NP_057095	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	6	702	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	222					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.666G>T	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598274	0.46318	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792;ENST00000453185	T;T	0.42900	0.96;0.96	5.75	1.74	0.24563	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.387681	0.29486	N	0.012004	T	0.41050	0.1142	M	0.67397	2.05	0.26194	N	0.979548	B	0.29671	0.254	B	0.38500	0.275	T	0.44360	-0.9333	10	0.66056	D	0.02	-6.9073	3.7118	0.08423	0.1368:0.5826:0.1321:0.1485	.	222	Q9BV79	MECR_HUMAN	H	146;222;134;61	ENSP00000362896:Q146H;ENSP00000263702:Q222H	ENSP00000263702:Q222H	Q	-	3	2	MECR	29401132	0.752000	0.28338	0.971000	0.41717	0.897000	0.52465	0.079000	0.14782	0.063000	0.16370	0.561000	0.74099	CAG		0.512	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1		NM_016011		78	217	1	0	3.66258e-25	1	4.23381e-25	78	217		
TXLNA	200081	broad.mit.edu	37	1	32660659	32660659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:32660659G>A	ENST00000373609.1	+	10	1785	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	TXLNA_ENST00000373610.3_Missense_Mutation_p.E502K			P40222	TXLNA_HUMAN	taxilin alpha	502					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGTGGCCCTGAGAGGAGGCC	0.642																																						uc001bui.2		NaN																	0				ovary(2)	2						c.(1504-1506)GAG>AAG		taxilin							44.0	44.0	44.0					1																	32660659		2203	4300	6503	SO:0001583	missense	200081				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	g.chr1:32660659G>A	AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1504G>A	1.37:g.32660659G>A	ENSP00000362711:p.Glu502Lys					TXLNA_uc001buj.2_Missense_Mutation_p.E502K	p.E502K	NM_175852	NP_787048	P40222	TXLNA_HUMAN			11	1569	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	502					D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	c.1504G>A	CCDS353.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807482	0.31961	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.33216	1.42;1.42	4.74	3.73	0.42828	.	0.740122	0.12298	N	0.481418	T	0.16128	0.0388	N	0.19112	0.55	0.34493	D	0.705181	B	0.16396	0.017	B	0.13407	0.009	T	0.13818	-1.0495	10	0.06625	T	0.88	-27.083	7.9782	0.30168	0.0877:0.1636:0.7487:0.0	.	502	P40222	TXLNA_HUMAN	K	502	ENSP00000362712:E502K;ENSP00000362711:E502K	ENSP00000362711:E502K	E	+	1	0	TXLNA	32433246	.	.	0.996000	0.52242	0.793000	0.44817	.	.	2.582000	0.87167	0.563000	0.77884	GAG		0.642	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1		NM_175852		23	26	0	0	0	1	0	23	26		
YARS	8565	broad.mit.edu	37	1	33245727	33245727	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:33245727C>A	ENST00000373477.4	-	11	2201	c.1293G>T	c.(1291-1293)atG>atT	p.M431I	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	431	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CGACTCCTCTCATCTTCTGGG	0.577																																						uc001bvy.1		NaN																	0				skin(2)	2						c.(1291-1293)ATG>ATT		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						222.0	173.0	189.0					1																	33245727		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33245727C>A	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1293G>T	1.37:g.33245727C>A	ENSP00000362576:p.Met431Ile					YARS_uc001bvw.1_Missense_Mutation_p.M91I|YARS_uc001bvx.1_Missense_Mutation_p.M82I	p.M431I	NM_003680	NP_003671	P54577	SYYC_HUMAN			11	2081	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	431			tRNA-binding.		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1293G>T	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791564	0.70452	.	.	ENSG00000134684	ENST00000373477	T	0.77877	-1.13	5.09	5.09	0.68999	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.76335	0.3973	L	0.60455	1.87	0.80722	D	1	B	0.20164	0.042	B	0.15052	0.012	T	0.73199	-0.4058	10	0.51188	T	0.08	-26.843	18.9199	0.92520	0.0:1.0:0.0:0.0	.	431	P54577	SYYC_HUMAN	I	431	ENSP00000362576:M431I	ENSP00000362576:M431I	M	-	3	0	YARS	33018314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.791000	0.69045	2.542000	0.85734	0.655000	0.94253	ATG		0.577	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1		NM_003680		22	140	1	0	0.00152264	1	0.00155472	22	140		
CSMD2	114784	broad.mit.edu	37	1	34034982	34034982	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:34034982C>G	ENST00000373381.4	-	52	8299	c.8123G>C	c.(8122-8124)cGc>cCc	p.R2708P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2710	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCAAGGCAGCGGACTTCAGA	0.522																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(8128-8130)CGC>CCC		CUB and Sushi multiple domains 2							84.0	76.0	79.0					1																	34034982		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34034982C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8123G>C	1.37:g.34034982C>G	ENSP00000362479:p.Arg2708Pro					CSMD2_uc001bxm.1_Missense_Mutation_p.R2708P	p.R2710P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			53	8158	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2710			Sushi 17.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.8129G>C		.	.	.	.	.	.	.	.	.	.	C	14.13	2.444663	0.43429	.	.	ENSG00000121904	ENST00000373381	T	0.66099	-0.19	5.47	2.59	0.31030	Complement control module (2);Sushi/SCR/CCP (3);	0.139948	0.47455	D	0.000231	T	0.76793	0.4037	M	0.89715	3.055	0.80722	D	1	P;D	0.62365	0.869;0.991	P;P	0.61477	0.881;0.889	T	0.75673	-0.3236	10	0.29301	T	0.29	.	9.65	0.39892	0.0:0.7863:0.0:0.2137	.	2710;2708	Q7Z408;E7EUA6	CSMD2_HUMAN;.	P	2708	ENSP00000362479:R2708P	ENSP00000241312:R2710P	R	-	2	0	CSMD2	33807569	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	2.142000	0.42177	0.681000	0.31386	0.655000	0.94253	CGC		0.522	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896		11	44	0	0	0	1	0	11	44		
ZMYM1	79830	broad.mit.edu	37	1	35579630	35579630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:35579630C>G	ENST00000373330.1	+	11	2373	c.2199C>G	c.(2197-2199)ttC>ttG	p.F733L	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.F733L			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	733						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAGAATTCAAGAAAGAAG	0.318																																						uc001bym.2		NaN																	0					0						c.(2197-2199)TTC>TTG		zinc finger, MYM domain containing 1							51.0	51.0	51.0					1																	35579630		1797	4068	5865	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579630C>G	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2199C>G	1.37:g.35579630C>G	ENSP00000362427:p.Phe733Leu					ZMYM1_uc001byn.2_Missense_Mutation_p.F733L|ZMYM1_uc010ohu.1_Missense_Mutation_p.F714L|ZMYM1_uc001byo.2_Missense_Mutation_p.F373L|ZMYM1_uc009vut.2_Missense_Mutation_p.F658L	p.F733L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	2347	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	733					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.2199C>G	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	C	4.562	0.104344	0.08731	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.15017	2.72;2.46;2.72	4.24	2.38	0.29361	Ribonuclease H-like (1);	0.133276	0.35067	N	0.003475	T	0.14270	0.0345	L	0.51422	1.61	0.29577	N	0.849421	B;B	0.18461	0.006;0.028	B;B	0.16289	0.007;0.015	T	0.12041	-1.0563	9	.	.	.	-9.6104	8.762	0.34680	0.0:0.8103:0.0:0.1897	.	714;733	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	L	733;658;733	ENSP00000352920:F733L;ENSP00000362426:F658L;ENSP00000362427:F733L	.	F	+	3	2	ZMYM1	35352217	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	0.637000	0.24659	0.749000	0.32854	-0.262000	0.10625	TTC		0.318	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1		NM_024772		15	51	0	0	0	1	0	15	51		
TEKT2	27285	broad.mit.edu	37	1	36550615	36550615	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36550615G>C	ENST00000207457.3	+	2	220	c.93G>C	c.(91-93)caG>caC	p.Q31H	RP4-665N4.4_ENST00000446354.1_RNA	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	31					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCAGCTGCAGCGAGATGCTT	0.617																																						uc001bzr.2		NaN																	0					0						c.(91-93)CAG>CAC		tektin 2							54.0	50.0	51.0					1																	36550615		2203	4300	6503	SO:0001583	missense	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36550615G>C	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.93G>C	1.37:g.36550615G>C	ENSP00000207457:p.Gln31His					TEKT2_uc001bzs.2_5'UTR	p.Q31H	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN			2	220	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	31					A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	c.93G>C	CCDS401.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768641	0.69878	.	.	ENSG00000092850	ENST00000207457	T	0.02863	4.13	5.54	5.54	0.83059	.	0.108637	0.64402	D	0.000005	T	0.17152	0.0412	M	0.85041	2.73	0.48288	D	0.999626	D	0.89917	1.0	D	0.79108	0.992	T	0.00069	-1.2136	10	0.54805	T	0.06	.	14.7325	0.69393	0.0712:0.0:0.9288:0.0	.	31	Q9UIF3	TEKT2_HUMAN	H	31	ENSP00000207457:Q31H	ENSP00000207457:Q31H	Q	+	3	2	TEKT2	36323202	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.700000	0.47085	2.607000	0.88179	0.655000	0.94253	CAG		0.617	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1		NM_014466		9	64	0	0	0	1	0	9	64		
THRAP3	9967	broad.mit.edu	37	1	36766618	36766618	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36766618C>G	ENST00000354618.5	+	10	2659	c.2435C>G	c.(2434-2436)tCa>tGa	p.S812*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.S812*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	812	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTGACAAATCAAGACTGGGG	0.517			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3		NaN		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				ovary(5)|lung(3)|breast(1)	9						c.(2434-2436)TCA>TGA		thyroid hormone receptor associated protein 3							81.0	75.0	77.0					1																	36766618		2203	4300	6503	SO:0001587	stop_gained	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36766618C>G	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2435C>G	1.37:g.36766618C>G	ENSP00000346634:p.Ser812*					THRAP3_uc001caf.3_Nonsense_Mutation_p.S812*	p.S812*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			10	2659	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	812					D3DPS5|Q5VTK6	Nonsense_Mutation	SNP	ENST00000354618.5	37	c.2435C>G	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	40	8.472693	0.98827	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	.	.	.	5.62	4.71	0.59529	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.8143	14.1523	0.65395	0.0:0.9279:0.0:0.0721	.	.	.	.	X	812	.	ENSP00000346634:S812X	S	+	2	0	THRAP3	36539205	1.000000	0.71417	0.976000	0.42696	0.988000	0.76386	4.607000	0.61133	1.524000	0.49035	0.650000	0.86243	TCA		0.517	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2		NM_005119		5	46	0	0	0	1	0	5	46		
CSF3R	1441	broad.mit.edu	37	1	36933439	36933439	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36933439C>T	ENST00000373106.1	-	14	2395	c.1848G>A	c.(1846-1848)ctG>ctA	p.L616L	CSF3R_ENST00000440588.2_Silent_p.L616L|CSF3R_ENST00000418048.2_Silent_p.L616L|CSF3R_ENST00000361632.4_Silent_p.L616L|CSF3R_ENST00000331941.5_Silent_p.L616L|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373103.1_Silent_p.L616L|CSF3R_ENST00000338937.5_Silent_p.L616L|CSF3R_ENST00000373104.1_Silent_p.L616L	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	616	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCAAGGTCATCAGGGTGAGGA	0.602																																						uc001caw.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1846-1848)CTG>CTA		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						89.0	99.0	95.0					1																	36933439		2203	4300	6503	SO:0001819	synonymous_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36933439C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1848G>A	1.37:g.36933439C>T						CSF3R_uc001cat.1_Silent_p.L179L|CSF3R_uc009vvc.1_Silent_p.L145L|CSF3R_uc001cau.1_Silent_p.L16L|CSF3R_uc001cav.1_Silent_p.L616L|CSF3R_uc001cax.1_Silent_p.L616L|CSF3R_uc001cay.1_Silent_p.L616L	p.L616L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			14	2026	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	616			Fibronectin type-III 5.|Extracellular (Potential).			Silent	SNP	ENST00000373106.1	37	c.1848G>A	CCDS413.1																																																																																				0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2		NM_156039		20	81	0	0	0	1	0	20	81		
GNL2	29889	broad.mit.edu	37	1	38040350	38040350	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:38040350G>T	ENST00000373062.3	-	11	1316	c.1218C>A	c.(1216-1218)atC>atA	p.I406I		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	406					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				ATGTTTTGCTGATATATTCTG	0.413																																						uc001cbk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1216-1218)ATC>ATA		guanine nucleotide binding protein-like 2							104.0	97.0	99.0					1																	38040350		2203	4300	6503	SO:0001819	synonymous_variant	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38040350G>T	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1218C>A	1.37:g.38040350G>T							p.I406I	NM_013285	NP_037417	Q13823	NOG2_HUMAN			11	1381	-		Myeloproliferative disorder(586;0.0393)	406					Q9BWN7	Silent	SNP	ENST00000373062.3	37	c.1218C>A	CCDS421.1																																																																																				0.413	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1		NM_013285		9	46	1	0	0.000673444	1	0.000690993	9	46		
GNL2	29889	broad.mit.edu	37	1	38040358	38040358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:38040358C>A	ENST00000373062.3	-	11	1308	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	404					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CTGATATATTCTGGCTTTGCT	0.403																																						uc001cbk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1210-1212)GAA>TAA		guanine nucleotide binding protein-like 2							108.0	101.0	104.0					1																	38040358		2203	4300	6503	SO:0001587	stop_gained	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38040358C>A	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1210G>T	1.37:g.38040358C>A	ENSP00000362153:p.Glu404*						p.E404*	NM_013285	NP_037417	Q13823	NOG2_HUMAN			11	1373	-		Myeloproliferative disorder(586;0.0393)	404					Q9BWN7	Nonsense_Mutation	SNP	ENST00000373062.3	37	c.1210G>T	CCDS421.1	.	.	.	.	.	.	.	.	.	.	C	37	6.272046	0.97431	.	.	ENSG00000134697	ENST00000373062	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-32.9922	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	404	.	ENSP00000362153:E404X	E	-	1	0	GNL2	37812945	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.744000	0.85034	2.941000	0.99782	0.655000	0.94253	GAA		0.403	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1		NM_013285		9	51	1	0	1.58986e-06	1	1.6848e-06	9	51		
RHBDL2	54933	broad.mit.edu	37	1	39384788	39384788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:39384788C>T	ENST00000289248.2	-	2	1105	c.97G>A	c.(97-99)Gat>Aat	p.D33N	RHBDL2_ENST00000540558.1_Missense_Mutation_p.D33N|RHBDL2_ENST00000538156.1_Missense_Mutation_p.D100N|RHBDL2_ENST00000372985.3_Missense_Mutation_p.D113N|RHBDL2_ENST00000372990.1_Missense_Mutation_p.D33N|RP5-864K19.4_ENST00000433671.2_RNA			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CCTCCCCCATCCTCTCTCATT	0.483																																						uc001ccu.1		NaN																	0					0						c.(97-99)GAT>AAT		rhomboid protease 2							235.0	215.0	222.0					1																	39384788		2203	4300	6503	SO:0001583	missense	54933				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr1:39384788C>T	AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"""rhomboid (veinlet, Drosophila)-like 2"""				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.97G>A	1.37:g.39384788C>T	ENSP00000289248:p.Asp33Asn					RHBDL2_uc010oin.1_Missense_Mutation_p.D33N|RHBDL2_uc010oio.1_Missense_Mutation_p.D113N|RHBDL2_uc001ccv.2_Missense_Mutation_p.D33N	p.D33N	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	325	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	33					B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Missense_Mutation	SNP	ENST00000289248.2	37	c.97G>A	CCDS30680.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729776	0.30684	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985;ENST00000540558	T;T;T;T	0.34859	1.47;1.47;1.35;1.34	5.62	0.276	0.15663	.	1.789490	0.02462	N	0.086641	T	0.24774	0.0601	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.11641	-1.0579	10	0.13470	T	0.59	-12.2768	6.3552	0.21397	0.0:0.5941:0.1196:0.2863	.	113;100;33	B7Z1Y9;B3KUN4;Q9NX52	.;.;RHBL2_HUMAN	N	33;33;100;113;33	ENSP00000362081:D33N;ENSP00000289248:D33N;ENSP00000439227:D100N;ENSP00000362076:D113N	ENSP00000289248:D33N	D	-	1	0	RHBDL2	39157375	0.001000	0.12720	0.000000	0.03702	0.095000	0.18619	-0.033000	0.12246	0.039000	0.15632	-0.221000	0.12465	GAT		0.483	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001216.1		NM_017821		26	109	0	0	0	1	0	26	109		
KIAA0754	643314	broad.mit.edu	37	1	39876688	39876688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:39876688G>A	ENST00000530275.1	+	1	538	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	115										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTAATGCAGGAATCCAGATT	0.502											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009vvt.1		NaN																	0					0						c.(751-753)GAA>AAA		hypothetical protein LOC643314							41.0	42.0	42.0					1																	39876688		1926	4137	6063	SO:0001583	missense	643314							g.chr1:39876688G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.343G>A	1.37:g.39876688G>A	ENSP00000431179:p.Glu115Lys		OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.E251K	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1513	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	115					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.751G>A		.	.	.	.	.	.	.	.	.	.	G	18.33	3.599659	0.66332	.	.	ENSG00000255103	ENST00000530275	T	0.32753	1.44	4.79	3.88	0.44766	.	.	.	.	.	T	0.20740	0.0499	N	0.24115	0.695	0.23089	N	0.998316	P	0.42518	0.782	B	0.34652	0.187	T	0.05954	-1.0854	9	0.87932	D	0	.	12.9479	0.58384	0.0788:0.0:0.9212:0.0	.	115	O94854	K0754_HUMAN	K	115	ENSP00000431179:E115K	ENSP00000431179:E115K	E	+	1	0	RP4-562N20.1	39649275	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.952000	0.70282	1.017000	0.39495	0.561000	0.74099	GAA		0.502	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038		11	37	0	0	0	1	0	11	37		
HPCAL4	51440	broad.mit.edu	37	1	40149690	40149690	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:40149690C>T	ENST00000372844.3	-	3	688	c.297G>A	c.(295-297)caG>caA	p.Q99Q		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	99	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGTTGAGCTTCTGCTCGAAGC	0.657																																						uc001cdr.2		NaN																	0				central_nervous_system(1)	1						c.(295-297)CAG>CAA		hippocalcin-like protein 4							53.0	54.0	54.0					1																	40149690		2203	4300	6503	SO:0001819	synonymous_variant	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40149690C>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.297G>A	1.37:g.40149690C>T						HPCAL4_uc010oix.1_Intron	p.Q99Q	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	417	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	99			EF-hand 3.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Silent	SNP	ENST00000372844.3	37	c.297G>A	CCDS441.1																																																																																				0.657	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1		NM_016257		13	47	0	0	0	1	0	13	47		
TRIT1	54802	broad.mit.edu	37	1	40323037	40323037	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:40323037C>G	ENST00000316891.5	-	2	241	c.227G>C	c.(226-228)aGa>aCa	p.R76T	TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.R76T|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.R76T	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	76					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGGCAGATTCTCTGCTCTTG	0.448																																						uc010oiz.1		NaN																	0				ovary(1)	1						c.(226-228)AGA>ACA		tRNA isopentenyltransferase 1 precursor							96.0	85.0	89.0					1																	40323037		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40323037C>G	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.227G>C	1.37:g.40323037C>G	ENSP00000321810:p.Arg76Thr					TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Intron|TRIT1_uc001cen.2_Intron|TRIT1_uc001ceo.2_Intron|TRIT1_uc001cep.2_Intron	p.R76T	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	241	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	76					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.227G>C	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476986	0.26511	.	.	ENSG00000043514	ENST00000046894;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000544981	T;T;T	0.42513	0.97;0.97;0.97	5.88	0.337	0.15966	.	0.474035	0.27147	N	0.020705	T	0.37019	0.0988	M	0.66560	2.04	0.20638	N	0.999871	B	0.13594	0.008	B	0.23275	0.045	T	0.33163	-0.9879	10	0.21540	T	0.41	-1.7006	10.1167	0.42596	0.0:0.4435:0.0:0.5565	.	76	Q9H3H1	MOD5_HUMAN	T	76;76;76;20;76	ENSP00000321810:R76T;ENSP00000361905:R76T;ENSP00000442765:R76T	ENSP00000046894:R76T	R	-	2	0	TRIT1	40095624	0.008000	0.16893	0.039000	0.18376	0.996000	0.88848	0.022000	0.13511	-0.188000	0.10499	0.561000	0.74099	AGA		0.448	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2		NM_017646		6	28	0	0	0	1	0	6	28		
PPCS	79717	broad.mit.edu	37	1	42922574	42922574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:42922574C>T	ENST00000372561.3	+	1	345	c.338C>T	c.(337-339)tCg>tTg	p.S113L	PPCS_ENST00000455780.1_Intron|ZMYND12_ENST00000372565.3_5'Flank|PPCS_ENST00000372560.3_Missense_Mutation_p.S113L|ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372556.3_Intron	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	113					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGCCCTTTCGGGCTTGCTG	0.647																																						uc001chl.2		NaN																	0					0						c.(337-339)TCG>TTG		phosphopantothenoylcysteine synthetase isoform							55.0	60.0	58.0					1																	42922574		1879	4089	5968	SO:0001583	missense	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42922574C>T	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.338C>T	1.37:g.42922574C>T	ENSP00000361642:p.Ser113Leu					ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Intron	p.S113L	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN			1	402	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	113					Q3KQT2|Q5VVM0	Missense_Mutation	SNP	ENST00000372561.3	37	c.338C>T	CCDS41311.1	.	.	.	.	.	.	.	.	.	.	C	9.234	1.036661	0.19669	.	.	ENSG00000127125	ENST00000372560;ENST00000372561	.	.	.	5.11	4.19	0.49359	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.605214	0.17816	N	0.161037	T	0.25938	0.0632	N	0.19112	0.55	0.26322	N	0.977663	B	0.32128	0.357	B	0.24541	0.054	T	0.08868	-1.0701	9	0.27082	T	0.32	1.4872	13.0104	0.58727	0.1627:0.8373:0.0:0.0	.	113	Q9HAB8	PPCS_HUMAN	L	113	.	ENSP00000361641:S113L	S	+	2	0	PPCS	42695161	0.084000	0.21492	0.185000	0.23176	0.228000	0.25075	0.677000	0.25262	1.514000	0.48869	-0.188000	0.12872	TCG		0.647	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1		NM_024664		20	87	0	0	0	1	0	20	87		
SZT2	23334	broad.mit.edu	37	1	43908528	43908528	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:43908528G>C	ENST00000562955.1	+	58	8019	c.8019G>C	c.(8017-8019)gaG>gaC	p.E2673D	SZT2_ENST00000372442.1_Missense_Mutation_p.E1831D	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2730					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGAAGTGGAGACCCTCATCC	0.612																																						uc001cjk.1		NaN																	0					0						c.(5491-5493)GAG>GAC		hypothetical protein LOC23334							104.0	103.0	104.0					1																	43908528		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43908528G>C	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8019G>C	1.37:g.43908528G>C	ENSP00000457168:p.Glu2673Asp						p.E1831D	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			44	5955	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2730					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5493G>C	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095850	0.20552	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.67	3.79	0.43588	.	0.156099	0.56097	D	0.000022	T	0.17704	0.0425	N	0.12961	0.28	0.23585	N	0.997355	B	0.14012	0.009	B	0.14023	0.01	T	0.16188	-1.0411	9	0.17369	T	0.5	.	6.0833	0.19952	0.1574:0.0:0.603:0.2396	.	2673	Q5T011-5	.	D	1831	.	ENSP00000361519:E1831D	E	+	3	2	SZT2	43681115	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.488000	0.22371	1.413000	0.46997	0.561000	0.74099	GAG		0.612	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		25	112	0	0	0	1	0	25	112		
TMEM53	79639	broad.mit.edu	37	1	45140082	45140082	+	De_novo_Start_OutOfFrame	SNP	G	G	T	rs114472931	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:45140082G>T	ENST00000372237.3	-	0	145				TMEM53_ENST00000372242.3_De_novo_Start_OutOfFrame|C1orf228_ENST00000458657.2_5'Flank|TMEM53_ENST00000372243.3_De_novo_Start_OutOfFrame|TMEM53_ENST00000372235.3_De_novo_Start_OutOfFrame|TMEM53_ENST00000476724.1_5'UTR|C1orf228_ENST00000535358.1_5'Flank|TMEM53_ENST00000372244.3_De_novo_Start_OutOfFrame	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53							integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CGCCGGCCCAGAGCACGGGTC	0.682																																						uc001cmc.2		NaN																	0				ovary(2)	2						c.(-20--16)CTCTG>CTATG		transmembrane protein 53							36.0	37.0	36.0					1																	45140082		2203	4300	6503			79639					integral to membrane		g.chr1:45140082G>T		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.-19C>A	1.37:g.45140082G>T						TMEM53_uc001cmb.1_Translation_Start_Site|TMEM53_uc001cmd.2_Translation_Start_Site|TMEM53_uc009vxh.1_5'Flank|C1orf228_uc001cmf.2_5'Flank		NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN			1	18	-	Acute lymphoblastic leukemia(166;0.155)							B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Translation_Start_Site	SNP	ENST00000372237.3	37	c.-18C>A	CCDS511.1																																																																																				0.682	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1		NM_024587		4	20	1	0	0.00909568	1	0.00919788	4	20		
TMEM69	51249	broad.mit.edu	37	1	46159475	46159475	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46159475G>T	ENST00000372025.4	+	3	1799	c.642G>T	c.(640-642)ctG>ctT	p.L214L	RP11-767N6.7_ENST00000430643.1_RNA|TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	214						integral component of membrane (GO:0016021)		p.L214L(1)		kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					TTAAAGCCCTGAGGATAGTAG	0.368																																						uc001cor.1		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(640-642)CTG>CTT		transmembrane protein 69							99.0	89.0	92.0					1																	46159475		1822	4080	5902	SO:0001819	synonymous_variant	51249					integral to membrane		g.chr1:46159475G>T	BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 154"""	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.642G>T	1.37:g.46159475G>T							p.L214L	NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN			3	838	+	Acute lymphoblastic leukemia(166;0.155)		214					Q3SWW5|Q7Z2G0|Q9P0P9	Silent	SNP	ENST00000372025.4	37	c.642G>T	CCDS41325.1																																																																																				0.368	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1		NM_016486		20	71	1	0	3.51602e-12	1	3.95199e-12	20	71		
LURAP1	541468	broad.mit.edu	37	1	46669164	46669164	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46669164G>C	ENST00000371980.3	+	1	159	c.66G>C	c.(64-66)aaG>aaC	p.K22N	POMGNT1_ENST00000396420.3_Intron|POMGNT1_ENST00000371992.1_Intron	NM_001013615.2	NP_001013633.1	Q96LR2	LURA1_HUMAN	leucine rich adaptor protein 1	22					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)											TGGGCAGGAAGACCCCTGAAG	0.692																																						uc010oma.1		NaN																	0				ovary(1)|breast(1)	2						c.(64-66)AAG>AAC		hypothetical protein LOC541468							33.0	37.0	36.0					1																	46669164		2203	4300	6503	SO:0001583	missense	541468				positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm		g.chr1:46669164G>C	AK057892	CCDS30703.1	1p34.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000171357	ENSG00000171357			32327	protein-coding gene	gene with protein product	"""leucine repeat adaptor protein 35a"""		"""chromosome 1 open reading frame 190"""	C1orf190		21048106	Standard	NM_001013615		Approved	FLJ25163, LRAP35a	uc010oma.2	Q96LR2	OTTHUMG00000007605	ENST00000371980.3:c.66G>C	1.37:g.46669164G>C	ENSP00000361048:p.Lys22Asn					POMGNT1_uc001cpg.2_Intron|POMGNT1_uc001cpf.2_Intron	p.K22N	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN			1	159	+	Acute lymphoblastic leukemia(166;0.155)		22						Missense_Mutation	SNP	ENST00000371980.3	37	c.66G>C	CCDS30703.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731826	0.89390	.	.	ENSG00000171357	ENST00000371980	.	.	.	4.91	4.91	0.64330	.	0.098018	0.64402	D	0.000002	T	0.68586	0.3017	L	0.45137	1.4	0.58432	D	0.999995	D	0.71674	0.998	D	0.66979	0.948	T	0.70234	-0.4928	9	0.56958	D	0.05	-20.3005	17.0215	0.86435	0.0:0.0:1.0:0.0	.	22	Q96LR2	LP35A_HUMAN	N	22	.	ENSP00000361048:K22N	K	+	3	2	C1orf190	46441751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.117000	0.50407	2.542000	0.85734	0.563000	0.77884	AAG		0.692	LURAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020154.1		NM_001013615		7	46	0	0	0	1	0	7	46		
LRRC41	10489	broad.mit.edu	37	1	46768814	46768814	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46768814G>A	ENST00000343304.6	-	1	466	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	UQCRH_ENST00000311672.5_5'Flank	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	61					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)					CCGCTCTCCAGAACCCCCATA	0.766																																						uc001cpn.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(181-183)CTG>TTG		MUF1 protein							6.0	8.0	8.0					1																	46768814		2121	4204	6325	SO:0001819	synonymous_variant	10489							g.chr1:46768814G>A	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.181C>T	1.37:g.46768814G>A						LRRC41_uc010omb.1_Silent_p.L61L|LRRC41_uc001cpo.1_Silent_p.L61L|UQCRH_uc001cpp.2_5'Flank|UQCRH_uc001cpq.2_5'Flank	p.L61L	NM_006369	NP_006360	Q15345	LRC41_HUMAN			1	225	-	Acute lymphoblastic leukemia(166;0.155)		61					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	ENST00000343304.6	37	c.181C>T	CCDS533.1																																																																																				0.766	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1		NM_006369		3	3	0	0	0	1	0	3	3		
CYP4B1	1580	broad.mit.edu	37	1	47284418	47284418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:47284418C>T	ENST00000271153.4	+	12	1504	c.1468C>T	c.(1468-1470)Ctt>Ttt	p.L490F	CYP4B1_ENST00000371919.4_Missense_Mutation_p.L476F|CYP4B1_ENST00000452782.2_Missense_Mutation_p.L328F|CYP4B1_ENST00000371923.4_Missense_Mutation_p.L491F			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	490					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GATGCCCCAGCTTGTCCTGCG	0.577																																						uc001cqm.3		NaN																	0				ovary(1)|skin(1)	2						c.(1468-1470)CTT>TTT		cytochrome P450, family 4, subfamily B,							132.0	117.0	122.0					1																	47284418		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47284418C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1468C>T	1.37:g.47284418C>T	ENSP00000271153:p.Leu490Phe					CYP4B1_uc001cqn.3_Missense_Mutation_p.L491F|CYP4B1_uc009vym.2_Missense_Mutation_p.L476F|CYP4B1_uc010omk.1_Missense_Mutation_p.L327F	p.L490F	NM_000779	NP_000770	P13584	CP4B1_HUMAN			12	1552	+	Acute lymphoblastic leukemia(166;0.155)		490					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1468C>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.485710	0.26686	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.74	3.67	0.42095	.	0.161118	0.42420	D	0.000717	T	0.75982	0.3924	M	0.72624	2.21	0.42803	D	0.99393	D;P;P	0.71674	0.998;0.517;0.572	D;B;B	0.71414	0.973;0.317;0.445	T	0.73972	-0.3814	9	.	.	.	.	6.5182	0.22260	0.1905:0.6304:0.1078:0.0713	.	476;491;490	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	F	491;490;476;328	ENSP00000360991:L491F;ENSP00000271153:L490F;ENSP00000360987:L476F;ENSP00000400413:L328F	.	L	+	1	0	CYP4B1	47057005	0.861000	0.29849	0.385000	0.26158	0.001000	0.01503	0.006000	0.13152	0.633000	0.30452	-0.165000	0.13383	CTT		0.577	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1		NM_000779		27	96	0	0	0	1	0	27	96		
EPS15	2060	broad.mit.edu	37	1	51934202	51934202	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:51934202C>T	ENST00000371733.3	-	5	348	c.252G>A	c.(250-252)caG>caA	p.Q84Q	EPS15_ENST00000371730.2_Silent_p.Q84Q	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	84	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CCAATCCATTCTGGGCACATG	0.358			T	MLL	ALL																																	uc001csq.1		NaN		Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)		central_nervous_system(1)	lung(1)|kidney(1)	2						c.(250-252)CAG>CAA		epidermal growth factor receptor pathway							73.0	70.0	71.0					1																	51934202		2203	4300	6503	SO:0001819	synonymous_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51934202C>T	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.252G>A	1.37:g.51934202C>T						EPS15_uc009vyz.1_Silent_p.Q84Q	p.Q84Q	NM_001981	NP_001972	P42566	EPS15_HUMAN			5	344	-			84			EH 1.		B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	37	c.252G>A	CCDS557.1																																																																																				0.358	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1		NM_001981		9	53	0	0	0	1	0	9	53		
ZCCHC11	23318	broad.mit.edu	37	1	52940569	52940569	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52940569C>A	ENST00000371544.3	-	13	2924	c.2662G>T	c.(2662-2664)Gat>Tat	p.D888Y	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D888Y	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	888					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGGTTATCATCATCATTAAGG	0.378																																						uc001ctx.2		NaN																	0				ovary(2)|skin(1)	3						c.(2662-2664)GAT>TAT		zinc finger, CCHC domain containing 11 isoform							78.0	76.0	77.0					1																	52940569		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52940569C>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2662G>T	1.37:g.52940569C>A	ENSP00000360599:p.Asp888Tyr					ZCCHC11_uc001cty.2_Missense_Mutation_p.D888Y|ZCCHC11_uc001ctz.2_Missense_Mutation_p.D888Y|ZCCHC11_uc009vze.1_Missense_Mutation_p.D888Y|ZCCHC11_uc009vzf.1_Missense_Mutation_p.D647Y|ZCCHC11_uc001cub.2_Missense_Mutation_p.D888Y	p.D888Y	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			13	2896	-			888					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2662G>T	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957756	0.53400	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.46451	0.87;0.87;0.9;0.9	5.49	5.49	0.81192	.	0.267409	0.41500	D	0.000868	T	0.36138	0.0956	N	0.14661	0.345	0.80722	D	1	P;P	0.40875	0.662;0.731	B;B	0.43360	0.232;0.417	T	0.32161	-0.9917	10	0.59425	D	0.04	.	19.3687	0.94475	0.0:1.0:0.0:0.0	.	647;888	E9PKX1;Q5TAX3	.;TUT4_HUMAN	Y	888;888;817;647	ENSP00000257177:D888Y;ENSP00000360599:D888Y;ENSP00000433486:D817Y;ENSP00000435256:D647Y	ENSP00000257177:D888Y	D	-	1	0	ZCCHC11	52713157	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.090000	0.57693	2.563000	0.86464	0.557000	0.71058	GAT		0.378	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1		XM_038288		29	45	1	0	1.7881e-09	1	1.96769e-09	29	45		
ZCCHC11	23318	broad.mit.edu	37	1	52940929	52940929	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52940929C>T	ENST00000371544.3	-	13	2564	c.2302G>A	c.(2302-2304)Gaa>Aaa	p.E768K	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E768K	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	768					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAGTCCATTTCATCACATTGA	0.388																																						uc001ctx.2		NaN																	0				ovary(2)|skin(1)	3						c.(2302-2304)GAA>AAA		zinc finger, CCHC domain containing 11 isoform							183.0	169.0	173.0					1																	52940929		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52940929C>T	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2302G>A	1.37:g.52940929C>T	ENSP00000360599:p.Glu768Lys					ZCCHC11_uc001cty.2_Missense_Mutation_p.E768K|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E768K|ZCCHC11_uc009vze.1_Missense_Mutation_p.E768K|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E527K|ZCCHC11_uc001cub.2_Missense_Mutation_p.E768K	p.E768K	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			13	2536	-			768					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2302G>A	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935571	0.34189	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.48836	0.8;0.81;0.81;0.8	5.17	3.26	0.37387	.	0.181170	0.38548	N	0.001645	T	0.32585	0.0834	L	0.29908	0.895	0.37165	D	0.902791	B;B	0.24258	0.059;0.1	B;B	0.24541	0.05;0.054	T	0.18335	-1.0340	10	0.42905	T	0.14	.	7.2911	0.26366	0.0:0.7054:0.1389:0.1557	.	527;768	E9PKX1;Q5TAX3	.;TUT4_HUMAN	K	768;768;697;527	ENSP00000257177:E768K;ENSP00000360599:E768K;ENSP00000433486:E697K;ENSP00000435256:E527K	ENSP00000257177:E768K	E	-	1	0	ZCCHC11	52713517	0.243000	0.23878	0.064000	0.19789	0.885000	0.51271	0.249000	0.18216	0.541000	0.28827	0.557000	0.71058	GAA		0.388	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1		XM_038288		45	102	0	0	0	1	0	45	102		
ZCCHC11	23318	broad.mit.edu	37	1	52941053	52941053	+	Missense_Mutation	SNP	C	C	G	rs367838640		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52941053C>G	ENST00000371544.3	-	13	2440	c.2178G>C	c.(2176-2178)gaG>gaC	p.E726D	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E726D	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	726					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTTCCCCTTCTCTCTTTTCT	0.398																																						uc001ctx.2		NaN																	0				ovary(2)|skin(1)	3						c.(2176-2178)GAG>GAC		zinc finger, CCHC domain containing 11 isoform		C	ASP/GLU,ASP/GLU	0,4406		0,0,2203	130.0	135.0	133.0		2178,2178	-3.6	0.9	1		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZCCHC11	NM_001009881.2,NM_015269.2	45,45	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	726/1646,726/1645	52941053	1,13005	2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52941053C>G	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2178G>C	1.37:g.52941053C>G	ENSP00000360599:p.Glu726Asp					ZCCHC11_uc001cty.2_Missense_Mutation_p.E726D|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E726D|ZCCHC11_uc009vze.1_Missense_Mutation_p.E726D|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E485D|ZCCHC11_uc001cub.2_Missense_Mutation_p.E726D	p.E726D	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			13	2412	-			726					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2178G>C	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963306	0.34659	0.0	1.16E-4	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.49139	0.79;0.8;0.81;0.8	5.49	-3.57	0.04612	.	0.347828	0.31167	N	0.008137	T	0.24851	0.0603	L	0.32530	0.975	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.003;0.004	T	0.04320	-1.0960	10	0.24483	T	0.36	.	2.5647	0.04780	0.196:0.2206:0.0968:0.4866	.	485;726	E9PKX1;Q5TAX3	.;TUT4_HUMAN	D	726;726;655;485	ENSP00000257177:E726D;ENSP00000360599:E726D;ENSP00000433486:E655D;ENSP00000435256:E485D	ENSP00000257177:E726D	E	-	3	2	ZCCHC11	52713641	0.794000	0.28838	0.905000	0.35620	0.983000	0.72400	-0.202000	0.09451	-1.132000	0.02907	-0.262000	0.10625	GAG		0.398	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1		XM_038288		40	116	0	0	0	1	0	40	116		
ZCCHC11	23318	broad.mit.edu	37	1	52941062	52941062	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52941062C>T	ENST00000371544.3	-	13	2431	c.2169G>A	c.(2167-2169)aaG>aaA	p.K723K	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.K723K	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	723					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TCTCTCTTTTCTTGAAATCCA	0.403																																						uc001ctx.2		NaN																	0				ovary(2)|skin(1)	3						c.(2167-2169)AAG>AAA		zinc finger, CCHC domain containing 11 isoform							118.0	123.0	121.0					1																	52941062		2203	4300	6503	SO:0001819	synonymous_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52941062C>T	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2169G>A	1.37:g.52941062C>T						ZCCHC11_uc001cty.2_Silent_p.K723K|ZCCHC11_uc001ctz.2_Silent_p.K723K|ZCCHC11_uc009vze.1_Silent_p.K723K|ZCCHC11_uc009vzf.1_Silent_p.K482K|ZCCHC11_uc001cub.2_Silent_p.K723K	p.K723K	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			13	2403	-			723					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.2169G>A	CCDS30716.1																																																																																				0.403	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1		XM_038288		39	110	0	0	0	1	0	39	110		
YIPF1	54432	broad.mit.edu	37	1	54348950	54348950	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:54348950C>T	ENST00000072644.1	-	4	368		c.e4-1		YIPF1_ENST00000469457.1_Intron|YIPF1_ENST00000371399.1_Splice_Site|YIPF1_ENST00000539954.1_Splice_Site	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1							integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TTGCCAAATTCTGAAATCAAT	0.453																																						uc001cvu.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.e4-1		Yip1 domain family, member 1							57.0	51.0	53.0					1																	54348950		2203	4300	6503	SO:0001630	splice_region_variant	54432					integral to membrane|transport vesicle		g.chr1:54348950C>T	BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.32-1G>A	1.37:g.54348950C>T						YIPF1_uc001cvv.2_Splice_Site|YIPF1_uc001cvw.2_Intron|YIPF1_uc001cvx.2_Splice_Site|YIPF1_uc001cvy.2_Splice_Site	p.E11_splice	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN			4	369	-								B2RCM7|D3DQ40|Q9NWJ1	Splice_Site	SNP	ENST00000072644.1	37	c.32_splice	CCDS584.1	.	.	.	.	.	.	.	.	.	.	C	9.035	0.988363	0.18966	.	.	ENSG00000058799	ENST00000072644;ENST00000539954;ENST00000412288	.	.	.	4.75	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9708	0.58511	0.0:0.9212:0.0:0.0788	.	.	.	.	.	-1	.	.	.	-	.	.	YIPF1	54121538	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	4.359000	0.59449	1.234000	0.43709	-0.363000	0.07495	.		0.453	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5		NM_018982	Intron	7	34	0	0	0	1	0	7	34		
DIO1	1733	broad.mit.edu	37	1	54359913	54359913	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:54359913G>A	ENST00000361921.3	+	1	54	c.30G>A	c.(28-30)ctG>ctA	p.L10L	DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000534069.1_Intron|DIO1_ENST00000532493.1_Silent_p.L10L|DIO1_ENST00000525202.1_Silent_p.L10L|DIO1_ENST00000322679.6_Silent_p.L10L|DIO1_ENST00000388876.3_Silent_p.L10L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	10					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGCTGTGGCTGAAGAGGCTCT	0.587																																						uc010onx.1		NaN																	0					0						c.(28-30)CTG>CTA		deiodinase, iodothyronine, type I isoform a							78.0	70.0	73.0					1																	54359913		2203	4300	6503	SO:0001819	synonymous_variant	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54359913G>A		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.30G>A	1.37:g.54359913G>A						DIO1_uc010onw.1_Silent_p.L10L|DIO1_uc009vzl.2_Silent_p.L10L|DIO1_uc001cwb.2_Silent_p.L10L|DIO1_uc010ony.1_Silent_p.L10L|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_RNA|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_RNA	p.L10L	NM_000792	NP_000783	P49895	IOD1_HUMAN			1	53	+			10					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Silent	SNP	ENST00000361921.3	37	c.30G>A	CCDS41339.1																																																																																				0.587	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3				12	48	0	0	0	1	0	12	48		
TTC22	55001	broad.mit.edu	37	1	55266753	55266753	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:55266753C>T	ENST00000371276.4	-	1	187	c.84G>A	c.(82-84)gaG>gaA	p.E28E	TTC22_ENST00000371274.4_Silent_p.E28E	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	28										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCAACTGCATCTCCAGGTGAA	0.687																																						uc009vzt.1		NaN																	0					0						c.(82-84)GAG>GAA		tetratricopeptide repeat domain 22 isoform 1							23.0	24.0	23.0					1																	55266753		2184	4279	6463	SO:0001819	synonymous_variant	55001						binding	g.chr1:55266753C>T	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.84G>A	1.37:g.55266753C>T						TTC22_uc001cxz.3_Silent_p.E28E	p.E28E	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN			1	189	-			28					Q9NWT4	Silent	SNP	ENST00000371276.4	37	c.84G>A	CCDS44152.1																																																																																				0.687	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1		NM_017904		9	25	0	0	0	1	0	9	25		
JUN	3725	broad.mit.edu	37	1	59248200	59248200	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:59248200C>T	ENST00000371222.2	-	1	1585	c.543G>A	c.(541-543)ctG>ctA	p.L181L	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	181					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	CGCCGCTGCTCAGCGCGCCTG	0.746			A		sarcoma																																	uc001cze.2		NaN		Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0					0						c.(541-543)CTG>CTA		jun oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						4.0	5.0	5.0					1																	59248200		1666	3483	5149	SO:0001819	synonymous_variant	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248200C>T	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.543G>A	1.37:g.59248200C>T						uc001czf.2_5'Flank|uc010oop.1_5'Flank	p.L181L	NM_002228	NP_002219	P05412	JUN_HUMAN			1	1586	-	all_cancers(7;8.55e-07)		181					Q6FHM7|Q96G93	Silent	SNP	ENST00000371222.2	37	c.543G>A	CCDS610.1																																																																																				0.746	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1		NM_002228		3	5	0	0	0	1	0	3	5		
DOCK7	85440	broad.mit.edu	37	1	63003725	63003725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:63003725G>A	ENST00000340370.5	-	27	3232	c.3215C>T	c.(3214-3216)tCa>tTa	p.S1072L	DOCK7_ENST00000251157.5_Missense_Mutation_p.S1103L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1103					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTAAAGCTTTGAAGACACCTT	0.348																																						uc001daq.2		NaN																	0				ovary(2)	2						c.(3307-3309)TCA>TTA		dedicator of cytokinesis 7							107.0	97.0	100.0					1																	63003725		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63003725G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3215C>T	1.37:g.63003725G>A	ENSP00000340742:p.Ser1072Leu					DOCK7_uc001dan.2_Missense_Mutation_p.S964L|DOCK7_uc001dao.2_Missense_Mutation_p.S964L|DOCK7_uc001dap.2_Missense_Mutation_p.S1072L|DOCK7_uc001dam.2_Missense_Mutation_p.S283L|DOCK7_uc010oov.1_5'Flank	p.S1103L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			28	3342	-			1103					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.3308C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644495	0.67358	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.25414	1.8;1.8	5.24	5.24	0.73138	.	0.126850	0.53938	D	0.000042	T	0.21347	0.0514	N	0.14661	0.345	0.58432	D	0.999995	B;B;B;B;B	0.18610	0.029;0.014;0.014;0.014;0.016	B;B;B;B;B	0.28916	0.096;0.03;0.03;0.03;0.062	T	0.06716	-1.0811	10	0.48119	T	0.1	.	19.0168	0.92897	0.0:0.0:1.0:0.0	.	1103;1072;1072;1072;1103	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	L	1103;1103;1072	ENSP00000251157:S1103L;ENSP00000340742:S1072L	ENSP00000251157:S1103L	S	-	2	0	DOCK7	62776313	1.000000	0.71417	0.999000	0.59377	0.701000	0.40568	9.578000	0.98200	2.737000	0.93849	0.561000	0.74099	TCA		0.348	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1		NM_033407		11	83	0	0	0	1	0	11	83		
DEPDC1	55635	broad.mit.edu	37	1	68948008	68948008	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:68948008C>T	ENST00000456315.2	-	8	1597	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	495					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACAACTCCTCTTGGTCTTGA	0.368																																						uc001dem.3		NaN																	0					0						c.(1483-1485)GAG>AAG		DEP domain containing 1 isoform a							64.0	58.0	60.0					1																	68948008		1568	3582	5150	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68948008C>T	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1483G>A	1.37:g.68948008C>T	ENSP00000412292:p.Glu495Lys					DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	p.E495K	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1600	-			495					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1483G>A	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765171	0.31228	.	.	ENSG00000024526	ENST00000456315	T	0.10763	2.84	5.61	5.61	0.85477	Rho GTPase activation protein (1);	0.504996	0.23291	N	0.049787	T	0.04543	0.0124	L	0.29908	0.895	0.80722	D	1	B	0.23442	0.085	B	0.19666	0.026	T	0.23440	-1.0188	10	0.45353	T	0.12	-1.6778	14.4708	0.67514	0.147:0.853:0.0:0.0	.	495	Q5TB30	DEP1A_HUMAN	K	495	ENSP00000412292:E495K	ENSP00000412292:E495K	E	-	1	0	DEPDC1	68720596	0.992000	0.36948	0.998000	0.56505	0.754000	0.42855	1.768000	0.38511	2.642000	0.89623	0.650000	0.86243	GAG		0.368	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2		NM_017779		19	74	0	0	0	1	0	19	74		
LRRIQ3	127255	broad.mit.edu	37	1	74492542	74492542	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:74492542C>T	ENST00000395089.1	-	7	1829	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V	LRRIQ3_ENST00000354431.4_Silent_p.V610V			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	610								p.V610V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AATTTGTTTTCACAATTGCTA	0.284																																						uc001dfy.3		NaN																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(1828-1830)GTG>GTA		leucine-rich repeats and IQ motif containing 3							114.0	105.0	108.0					1																	74492542		1809	4054	5863	SO:0001819	synonymous_variant	127255							g.chr1:74492542C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1830G>A	1.37:g.74492542C>T						LRRIQ3_uc001dfz.3_RNA	p.V610V	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			8	2022	-			610			Potential.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1830G>A	CCDS41350.1																																																																																				0.284	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		NM_145258		6	41	0	0	0	1	0	6	41		
ERICH3	127254	broad.mit.edu	37	1	75065508	75065508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:75065508C>T	ENST00000326665.5	-	11	1815	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	C1orf173_ENST00000420661.2_Missense_Mutation_p.D336N|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		533	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTTTTTATCATCCAAAGGT	0.398																																						uc001dgg.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1597-1599)GAT>AAT		hypothetical protein LOC127254							236.0	233.0	234.0					1																	75065508		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75065508C>T																												ENST00000326665.5:c.1597G>A	1.37:g.75065508C>T	ENSP00000322609:p.Asp533Asn					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.D327N	p.D533N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			11	1816	-			533			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1597G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263358	0.39995	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.23348	2.38;1.91	6.05	5.13	0.70059	.	.	.	.	.	T	0.31389	0.0795	L	0.52573	1.65	0.28536	N	0.912333	D;D	0.76494	0.992;0.999	P;D	0.71656	0.813;0.974	T	0.12967	-1.0527	9	0.40728	T	0.16	-17.4034	15.446	0.75232	0.0:0.9322:0.0:0.0678	.	336;533	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	N	533;336	ENSP00000322609:D533N;ENSP00000398581:D336N	ENSP00000322609:D533N	D	-	1	0	C1orf173	74838096	1.000000	0.71417	0.943000	0.38184	0.002000	0.02628	2.844000	0.48246	1.541000	0.49316	0.650000	0.86243	GAT		0.398	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1				58	115	0	0	0	1	0	58	115		
TYW3	127253	broad.mit.edu	37	1	75198988	75198988	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:75198988C>T	ENST00000370867.3	+	1	149	c.60C>T	c.(58-60)ctC>ctT	p.L20L	CRYZ_ENST00000370872.3_5'Flank|CRYZ_ENST00000340866.5_5'Flank|CRYZ_ENST00000417775.1_5'UTR|CRYZ_ENST00000370871.3_5'Flank|TYW3_ENST00000421739.2_Silent_p.L20L|TYW3_ENST00000479111.1_5'UTR|TYW3_ENST00000457880.2_Silent_p.L20L	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	20					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						AAGCGGACCTCAGCCGGAAGG	0.572																																						uc001dgn.2		NaN																	0				ovary(2)	2						c.(58-60)CTC>CTT		tRNA-yW synthesizing protein 3 homolog isoform							125.0	98.0	107.0					1																	75198988		2203	4300	6503	SO:0001819	synonymous_variant	127253				tRNA processing		methyltransferase activity	g.chr1:75198988C>T	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.60C>T	1.37:g.75198988C>T						CRYZ_uc001dgk.2_5'UTR|CRYZ_uc001dgj.2_5'UTR|CRYZ_uc001dgl.2_5'UTR|CRYZ_uc001dgm.2_5'UTR|TYW3_uc010oqw.1_Silent_p.L20L|TYW3_uc010oqx.1_Silent_p.L20L|TYW3_uc010oqy.1_RNA	p.L20L	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN			1	149	+			20					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Silent	SNP	ENST00000370867.3	37	c.60C>T	CCDS666.1																																																																																				0.572	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1		NM_138467		11	27	0	0	0	1	0	11	27		
DDAH1	23576	broad.mit.edu	37	1	85787136	85787136	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:85787136C>G	ENST00000284031.8	-	6	951	c.857G>C	c.(856-858)tGa>tCa	p.*286S	DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000539042.1_Nonstop_Mutation_p.*286S|DDAH1_ENST00000535924.2_Nonstop_Mutation_p.*183S|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000542148.1_Nonstop_Mutation_p.*186S|DDAH1_ENST00000426972.3_Nonstop_Mutation_p.*193S|RP11-131L23.1_ENST00000427819.1_RNA	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	0					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CTCTGCAGCTCAGGAGTCTAC	0.532																																						uc001dlb.2		NaN																	0					0						c.(856-858)TGA>TCA		dimethylarginine dimethylaminohydrolase 1	L-Citrulline(DB00155)						61.0	62.0	62.0					1																	85787136		2203	4300	6503	SO:0001578	stop_lost	23576				arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding	g.chr1:85787136C>G	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.857G>C	1.37:g.85787136C>G						DDAH1_uc001dlc.2_Nonstop_Mutation_p.*183S|uc001dla.1_Intron|DDAH1_uc010osb.1_Nonstop_Mutation_p.*186S|DDAH1_uc009wco.2_Nonstop_Mutation_p.*183S	p.*286S	NM_012137	NP_036269	O94760	DDAH1_HUMAN		all cancers(265;0.0318)|Epithelial(280;0.0657)	6	1018	-			286					Q5HYC8|Q86XK5	Nonstop_Mutation	SNP	ENST00000284031.8	37	c.857G>C	CCDS705.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.585870	0.66105	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.68	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8833	0.70550	0.0:0.9312:0.0:0.0688	.	.	.	.	S	286;286;183;193;186	.	.	X	-	2	2	DDAH1	85559724	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.989000	0.63870	1.545000	0.49373	0.644000	0.83932	TGA		0.532	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1				12	43	0	0	0	1	0	12	43		
LMO4	8543	broad.mit.edu	37	1	87797934	87797934	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:87797934G>C	ENST00000370544.5	+	2	1016	c.236G>C	c.(235-237)aGg>aCg	p.R79T	LMO4_ENST00000370542.1_Splice_Site_p.R79T|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	79	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GACTACATTAGGTAAGACTTT	0.537																																						uc001dmi.2		NaN																	0					0						c.(235-237)AGG>ACG		LIM domain only 4							52.0	46.0	48.0					1																	87797934		2203	4300	6503	SO:0001630	splice_region_variant	8543				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr1:87797934G>C	U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.236+1G>C	1.37:g.87797934G>C						LMO4_uc001dmj.2_Missense_Mutation_p.R79T	p.R79T	NM_006769	NP_006760	P61968	LMO4_HUMAN		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)	2	1016	+		Lung NSC(277;0.179)	79			LIM zinc-binding 1.		D3DT23|O00158|O88894	Missense_Mutation	SNP	ENST00000370544.5	37	c.236G>C	CCDS713.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607055	0.87157	.	.	ENSG00000143013	ENST00000370544;ENST00000370542	D;D	0.87966	-2.32;-2.32	5.52	5.52	0.82312	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.93739	0.7999	M	0.87328	2.875	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.94254	0.7496	10	0.87932	D	0	.	19.445	0.94843	0.0:0.0:1.0:0.0	.	79	P61968	LMO4_HUMAN	T	79	ENSP00000359575:R79T;ENSP00000359573:R79T	ENSP00000359573:R79T	R	+	2	0	LMO4	87570522	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.813000	0.86123	2.612000	0.88384	0.655000	0.94253	AGG		0.537	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2		NM_006769	Missense_Mutation	18	19	0	0	0	1	0	18	19		
ABCA4	24	broad.mit.edu	37	1	94496677	94496677	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:94496677C>G	ENST00000370225.3	-	28	4215		c.e28-1			NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGAGCACGATCTGTGGGAGAA	0.473																																						uc001dqh.2		NaN																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.e28-1		ATP-binding cassette, sub-family A member 4							118.0	97.0	104.0					1																	94496677		2203	4300	6503	SO:0001630	splice_region_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94496677C>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4129-1G>C	1.37:g.94496677C>G							p.I1377_splice	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	28	4233	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)						O15112|O60438|O60915|Q0QD48|Q4LE31	Splice_Site	SNP	ENST00000370225.3	37	c.4129_splice	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696799	0.30142	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	.	.	.	5.0	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6717	0.51406	0.0:0.9184:0.0:0.0816	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA4	94269265	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	7.538000	0.82048	1.345000	0.45676	0.655000	0.94253	.		0.473	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1		NM_000350	Intron	9	25	0	0	0	1	0	9	25		
HIAT1	64645	broad.mit.edu	37	1	100533744	100533744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:100533744C>G	ENST00000370152.3	+	6	834	c.698C>G	c.(697-699)cCt>cGt	p.P233R	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	233					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAAGCTGACCCTTTTGCGGTA	0.413																																						uc001dst.2		NaN																	0					0						c.(697-699)CCT>CGT		hippocampus abundant transcript 1							92.0	87.0	88.0					1																	100533744		2203	4300	6503	SO:0001583	missense	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100533744C>G	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.698C>G	1.37:g.100533744C>G	ENSP00000359171:p.Pro233Arg						p.P233R	NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	6	698	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	233			Extracellular (Potential).		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	c.698C>G	CCDS763.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750622	0.69533	.	.	ENSG00000156875	ENST00000370152	D	0.83163	-1.69	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93151	0.7819	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93972	0.7250	10	0.87932	D	0	-39.1899	19.8831	0.96905	0.0:1.0:0.0:0.0	.	233	Q96MC6	HIAT1_HUMAN	R	233	ENSP00000359171:P233R	ENSP00000359171:P233R	P	+	2	0	HIAT1	100306332	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	7.818000	0.86416	2.705000	0.92388	0.655000	0.94253	CCT		0.413	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1		NM_033055		6	34	0	0	0	1	0	6	34		
COL11A1	1301	broad.mit.edu	37	1	103540254	103540254	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:103540254C>T	ENST00000370096.3	-	4	883	c.571G>A	c.(571-573)Gat>Aat	p.D191N	COL11A1_ENST00000353414.4_Missense_Mutation_p.D191N|COL11A1_ENST00000512756.1_Missense_Mutation_p.D191N|COL11A1_ENST00000358392.2_Missense_Mutation_p.D191N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	191	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACTTCTATCAAGTGGTTTC	0.368																																						uc001dul.2		NaN																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(571-573)GAT>AAT		alpha 1 type XI collagen isoform A							158.0	140.0	146.0					1																	103540254		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103540254C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.571G>A	1.37:g.103540254C>T	ENSP00000359114:p.Asp191Asn					COL11A1_uc001dum.2_Missense_Mutation_p.D191N|COL11A1_uc001dun.2_Missense_Mutation_p.D191N|COL11A1_uc009weh.2_Missense_Mutation_p.D191N	p.D191N	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	4	889	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	191			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.571G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481035	0.26598	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34;4.34	5.73	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.835039	0.11170	N	0.592063	T	0.01092	0.0036	N	0.21282	0.65	0.09310	N	0.999998	B;B;B;B	0.27316	0.055;0.145;0.145;0.175	B;B;B;B	0.24701	0.055;0.033;0.033;0.055	T	0.46843	-0.9162	10	0.17369	T	0.5	.	17.1233	0.86707	0.0:0.7794:0.2206:0.0	.	191;191;191;191	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	N	191;191;191;191;191;118	ENSP00000359114:D191N;ENSP00000351163:D191N;ENSP00000302551:D191N;ENSP00000426533:D191N;ENSP00000408640:D191N;ENSP00000410177:D118N	ENSP00000302551:D191N	D	-	1	0	COL11A1	103312842	0.132000	0.22450	0.995000	0.50966	0.999000	0.98932	1.999000	0.40806	2.693000	0.91896	0.650000	0.86243	GAT		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630		21	37	0	0	0	1	0	21	37		
FAM102B	284611	broad.mit.edu	37	1	109103119	109103119	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:109103119C>T	ENST00000370035.3	+	1	409	c.69C>T	c.(67-69)ttC>ttT	p.F23F	FAM102B_ENST00000405454.1_Silent_p.F23F	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	23										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CAGTGCCCTTCGTCAATGGGG	0.607																																						uc010ouy.1		NaN																	0				large_intestine(1)	1						c.(67-69)TTC>TTT		hypothetical protein LOC284611							52.0	55.0	54.0					1																	109103119		2203	4300	6503	SO:0001819	synonymous_variant	284611							g.chr1:109103119C>T	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.69C>T	1.37:g.109103119C>T							p.F23F	NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	1	149	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	23					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Silent	SNP	ENST00000370035.3	37	c.69C>T	CCDS30786.2																																																																																				0.607	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3		NM_001010883		8	33	0	0	0	1	0	8	33		
TAF13	6884	broad.mit.edu	37	1	109617651	109617651	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:109617651C>A	ENST00000338366.5	-	2	118	c.64G>T	c.(64-66)Gaa>Taa	p.E22*		NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN	TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa	22					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGTCCACCTTCTGCACCTCCT	0.294																																						uc001dwm.1		NaN																	0					0						c.(64-66)GAA>TAA		TBP-associated factor 13							251.0	272.0	265.0					1																	109617651		2203	4296	6499	SO:0001587	stop_gained	6884				transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity	g.chr1:109617651C>A	XM_496381	CCDS30788.1	1p13.3	2010-04-22	2002-08-29	2001-12-07	ENSG00000197780	ENSG00000197780			11546	protein-coding gene	gene with protein product		600774	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD"""	TAF2K		7729427	Standard	NM_005645		Approved	TAFII18	uc001dwm.1	Q15543	OTTHUMG00000042363	ENST00000338366.5:c.64G>T	1.37:g.109617651C>A	ENSP00000355051:p.Glu22*						p.E22*	NM_005645	NP_005636	Q15543	TAF13_HUMAN		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	119	-		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	22					B2R5E5|Q5TYV6	Nonsense_Mutation	SNP	ENST00000338366.5	37	c.64G>T	CCDS30788.1	.	.	.	.	.	.	.	.	.	.	C	36	5.940668	0.97128	.	.	ENSG00000197780	ENST00000338366	.	.	.	4.99	4.99	0.66335	.	0.098561	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	16.1548	0.81649	0.0:1.0:0.0:0.0	.	.	.	.	X	22	.	ENSP00000355051:E22X	E	-	1	0	TAF13	109419174	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.633000	0.61318	2.756000	0.94617	0.561000	0.74099	GAA		0.294	TAF13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100609.2		NM_005645		41	239	1	0	9.39024e-22	1	1.08151e-21	41	239		
MAGI3	260425	broad.mit.edu	37	1	114226264	114226264	+	Missense_Mutation	SNP	C	C	G	rs377346875		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:114226264C>G	ENST00000307546.9	+	21	4149	c.4074C>G	c.(4072-4074)atC>atG	p.I1358M	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1383					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAAAAAATCAAAAGAATGG	0.368																																						uc001edk.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(4072-4074)ATC>ATG		membrane-associated guanylate kinase-related  3							46.0	43.0	44.0					1																	114226264		1568	3582	5150	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114226264C>G	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.4074C>G	1.37:g.114226264C>G	ENSP00000304604:p.Ile1358Met					MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	p.I1358M	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	4255	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1383					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.4074C>G	CCDS44196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.804|8.804	0.933568|0.933568	0.18206|0.18206	.|.	.|.	ENSG00000081026|ENSG00000081026	ENST00000307546|ENST00000546156	T|.	0.54675|.	0.56|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.750309|.	0.13210|.	N|.	0.405263|.	T|.	0.43411|.	0.1246|.	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.15719|.	0.014|.	B|.	0.09377|.	0.004|.	T|.	0.55366|.	-0.8152|.	10|.	0.52906|0.72032	T|D	0.07|0.01	-7.0511|-7.0511	20.4745|20.4745	0.99168|0.99168	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1358|.	Q5TCQ9-4|.	.|.	M|X	1358|398	ENSP00000304604:I1358M|.	ENSP00000304604:I1358M|ENSP00000446449:S398X	I|S	+|+	3|2	3|0	MAGI3|MAGI3	114027787|114027787	0.001000|0.001000	0.12720|0.12720	0.179000|0.179000	0.23059|0.23059	0.143000|0.143000	0.21401|0.21401	1.275000|1.275000	0.33144|0.33144	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.368	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1		NM_152900		4	22	0	0	0	1	0	4	22		
DCLRE1B	64858	broad.mit.edu	37	1	114454730	114454730	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:114454730C>T	ENST00000369563.3	+	4	1962	c.1516C>T	c.(1516-1518)Ctg>Ttg	p.L506L	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	506					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAATATCTTCTGACTCCAGT	0.498								Other identified genes with known or suspected DNA repair function																														uc001eeg.2		NaN																	0					0						c.(1516-1518)CTG>TTG	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1B (PSO2 homolog, S.							100.0	108.0	105.0					1																	114454730		2203	4300	6503	SO:0001819	synonymous_variant	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454730C>T	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1516C>T	1.37:g.114454730C>T						DCLRE1B_uc001eeh.2_Intron|DCLRE1B_uc001eei.2_Silent_p.L380L	p.L506L	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1687	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	506	L->A: Abolishes interaction with TERF2.		TBM.		Q9H9E5	Silent	SNP	ENST00000369563.3	37	c.1516C>T	CCDS866.1																																																																																				0.498	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2		NM_022836		26	129	0	0	0	1	0	26	129		
CASQ2	845	broad.mit.edu	37	1	116260464	116260464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:116260464G>A	ENST00000261448.5	-	8	1074	c.835C>T	c.(835-837)Cca>Tca	p.P279S	CASQ2_ENST00000456138.2_Missense_Mutation_p.P208S	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	279					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCCTACCTGGATCACTCTTC	0.453																																						uc001efx.3		NaN																	0				skin(1)	1						c.(835-837)CCA>TCA		cardiac calsequestrin 2 precursor							158.0	148.0	151.0					1																	116260464		2203	4300	6503	SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116260464G>A	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.835C>T	1.37:g.116260464G>A	ENSP00000261448:p.Pro279Ser					CASQ2_uc010owu.1_Missense_Mutation_p.P208S	p.P279S	NM_001232	NP_001223	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	8	1099	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	279					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	c.835C>T	CCDS884.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941572	0.92526	.	.	ENSG00000118729	ENST00000261448;ENST00000456138	T;T	0.80653	-1.4;-1.4	5.15	5.15	0.70609	Thioredoxin-like fold (2);	0.105213	0.64402	D	0.000003	D	0.86855	0.6033	M	0.85197	2.74	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.70935	0.971;0.902	D	0.84458	0.0592	10	0.10636	T	0.68	.	18.6098	0.91281	0.0:0.0:1.0:0.0	.	208;279	B4DIB0;O14958	.;CASQ2_HUMAN	S	279;208	ENSP00000261448:P279S;ENSP00000403858:P208S	ENSP00000261448:P279S	P	-	1	0	CASQ2	116061987	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.838000	0.92115	2.566000	0.86566	0.655000	0.94253	CCA		0.453	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1		NM_001232		18	110	0	0	0	1	0	18	110		
CD101	9398	broad.mit.edu	37	1	117564240	117564240	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:117564240C>A	ENST00000256652.4	+	7	2121	c.2063C>A	c.(2062-2064)tCc>tAc	p.S688Y	CD101_ENST00000369470.1_Missense_Mutation_p.S688Y	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	688	Ig-like C2-type 6.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAAGAGCTCTCCATCAACTCC	0.358																																						uc010oxb.1		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2062-2064)TCC>TAC		immunoglobulin superfamily, member 2 precursor							81.0	77.0	78.0					1																	117564240		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117564240C>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2063C>A	1.37:g.117564240C>A	ENSP00000256652:p.Ser688Tyr					CD101_uc009whd.2_Missense_Mutation_p.S688Y|CD101_uc010oxc.1_Missense_Mutation_p.S688Y|CD101_uc010oxd.1_Missense_Mutation_p.S626Y	p.S688Y	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			7	2121	+			688			Ig-like C2-type 6.|Extracellular (Potential).		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.2063C>A	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	7.662	0.685079	0.14973	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.66995	-0.24;-0.24	4.86	3.94	0.45596	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.639081	0.14656	N	0.306262	T	0.48624	0.1510	L	0.57536	1.79	0.35410	D	0.792365	B	0.29508	0.246	B	0.34722	0.188	T	0.50329	-0.8841	10	0.41790	T	0.15	-2.3155	9.2847	0.37749	0.0:0.9018:0.0:0.0982	.	688	Q93033	IGSF2_HUMAN	Y	688	ENSP00000256652:S688Y;ENSP00000358482:S688Y	ENSP00000256652:S688Y	S	+	2	0	CD101	117365763	0.000000	0.05858	0.566000	0.28421	0.017000	0.09413	0.117000	0.15583	1.253000	0.44018	0.655000	0.94253	TCC		0.358	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1		NM_004258		5	32	1	0	0.184627	1	0.184921	5	32		
HSD3B1	3283	broad.mit.edu	37	1	120054248	120054248	+	Missense_Mutation	SNP	G	G	A	rs6684974	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:120054248G>A	ENST00000369413.3	+	3	413	c.268G>A	c.(268-270)Ggt>Agt	p.G90S	HSD3B1_ENST00000528909.1_Missense_Mutation_p.G90S|HSD3B1_ENST00000235547.6_Missense_Mutation_p.G92S			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	90			G -> S (in dbSNP:rs6684974).		androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TGATGTCTTCGGTGTCACTCA	0.502													G|||	11	0.00219649	0.0076	0.0	5008	,	,		22066	0.001		0.0	False		,,,				2504	0.0					uc001ehv.1		NaN																	0				ovary(2)	2						c.(268-270)GGT>AGT		3 beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)|Trilostane(DB01108)	G	SER/GLY	17,4389	25.3+/-52.1	0,17,2186	120.0	114.0	116.0		268	-2.6	0.0	1	dbSNP_116	116	0,8600		0,0,4300	no	missense	HSD3B1	NM_000862.2	56	0,17,6486	AA,AG,GG		0.0,0.3858,0.1307	possibly-damaging	90/374	120054248	17,12989	2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120054248G>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.268G>A	1.37:g.120054248G>A	ENSP00000358421:p.Gly90Ser					HSD3B1_uc001ehw.2_Missense_Mutation_p.G92S	p.G90S	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	3	413	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	90					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.268G>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022290	0.54683	0.003858	0.0	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.87029	-2.2;-2.2;-2.2	2.78	-2.6	0.06190	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.834491	0.10443	N	0.674022	D	0.83326	0.5230	M	0.74881	2.28	0.09310	N	1	D;P	0.61697	0.99;0.894	P;B	0.57720	0.826;0.438	T	0.74003	-0.3804	9	.	.	.	-2.7472	4.5671	0.12191	0.3851:0.1671:0.4479:0.0	rs6684974;rs6684974	92;90	Q5TDG2;P14060	.;3BHS1_HUMAN	S	90;92;90	ENSP00000358421:G90S;ENSP00000235547:G92S;ENSP00000432268:G90S	.	G	+	1	0	HSD3B1	119855771	0.037000	0.19845	0.000000	0.03702	0.003000	0.03518	2.150000	0.42254	-0.379000	0.07906	0.313000	0.20887	GGT		0.502	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3		NM_000862		20	95	0	0	0	1	0	20	95		
PDE4DIP	9659	broad.mit.edu	37	1	144882612	144882612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:144882612G>A	ENST00000369354.3	-	24	3596	c.3407C>T	c.(3406-3408)cCa>cTa	p.P1136L	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P1273L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1136L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P1273L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1136					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGAGCTCTGGAGTAAGTTT	0.463			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3406-3408)CCA>CTA		phosphodiesterase 4D interacting protein isoform							220.0	213.0	216.0					1																	144882612		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882612G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3407C>T	1.37:g.144882612G>A	ENSP00000358360:p.Pro1136Leu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.P143L	p.P1136L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	24	3698	-			1136					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3407C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479149	0.63849	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01933	4.55;4.55;4.57;4.57	5.99	5.99	0.97316	.	.	.	.	.	T	0.02807	0.0084	M	0.61703	1.905	0.80722	D	1	P	0.50066	0.931	B	0.44224	0.444	T	0.52480	-0.8570	9	0.54805	T	0.06	.	17.9695	0.89108	0.0:0.0:1.0:0.0	.	1136	Q5VU43	MYOME_HUMAN	L	1136;1136;1273;1273	ENSP00000358360:P1136L;ENSP00000358363:P1136L;ENSP00000435654:P1273L;ENSP00000358366:P1273L	ENSP00000358360:P1136L	P	-	2	0	PDE4DIP	143593969	0.939000	0.31865	0.015000	0.15790	0.171000	0.22731	5.139000	0.64801	2.847000	0.97988	0.655000	0.94253	CCA		0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		53	312	0	0	0	1	0	53	312		
BOLA1	51027	broad.mit.edu	37	1	149871751	149871751	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:149871751G>T	ENST00000369153.2	+	3	803	c.139G>T	c.(139-141)Gag>Tag	p.E47*	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369150.1_Nonsense_Mutation_p.E47*|BOLA1_ENST00000369152.5_Nonsense_Mutation_p.E47*			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	47						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTGAGCCCCGAGGTGCTAGA	0.677																																						uc001etf.2		NaN																	0				ovary(1)	1						c.(139-141)GAG>TAG		bolA-like 1							37.0	38.0	38.0					1																	149871751		2203	4299	6502	SO:0001587	stop_gained	51027					extracellular region	protein binding	g.chr1:149871751G>T	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.139G>T	1.37:g.149871751G>T	ENSP00000358149:p.Glu47*						p.E47*	NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		2	260	+	Breast(34;0.0124)|all_hematologic(923;0.127)		47					B2R7K2|D3DUZ4|Q5QNY0	Nonsense_Mutation	SNP	ENST00000369153.2	37	c.139G>T	CCDS939.1	.	.	.	.	.	.	.	.	.	.	G	38	6.964430	0.97967	.	.	ENSG00000178096	ENST00000369153;ENST00000369152;ENST00000369150	.	.	.	5.09	5.09	0.68999	.	0.067911	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-0.7332	9.9031	0.41359	0.0935:0.0:0.9065:0.0	.	.	.	.	X	47	.	ENSP00000358146:E47X	E	+	1	0	BOLA1	148138375	0.997000	0.39634	1.000000	0.80357	0.936000	0.57629	3.274000	0.51631	2.518000	0.84900	0.462000	0.41574	GAG		0.677	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2		NM_016074		8	59	1	0	1.12685e-05	1	1.18122e-05	8	59		
CIART	148523	broad.mit.edu	37	1	150259019	150259019	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150259019C>T	ENST00000290363.5	+	5	1260	c.811C>T	c.(811-813)Ctc>Ttc	p.L271F	C1orf51_ENST00000369095.1_Missense_Mutation_p.L271F|C1orf51_ENST00000369094.1_Missense_Mutation_p.L183F	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		271					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAACCCCCCTCTCAGCTCCCC	0.522																																						uc001euh.2		NaN																	0					0						c.(811-813)CTC>TTC		hypothetical protein LOC148523							230.0	185.0	201.0					1																	150259019		2203	4300	6503	SO:0001583	missense	148523							g.chr1:150259019C>T																												ENST00000290363.5:c.811C>T	1.37:g.150259019C>T	ENSP00000290363:p.Leu271Phe					C1orf51_uc001eui.2_Missense_Mutation_p.L183F|C1orf51_uc001euj.2_Missense_Mutation_p.L271F	p.L271F	NM_144697	NP_653298	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	947	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		271					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.811C>T	CCDS949.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564829	0.65651	.	.	ENSG00000159208	ENST00000447007;ENST00000369095;ENST00000369094;ENST00000417398;ENST00000290363	.	.	.	5.65	2.74	0.32292	.	1.038730	0.07600	N	0.923449	T	0.24509	0.0594	L	0.60455	1.87	0.32772	N	0.503597	B	0.32203	0.36	B	0.32022	0.139	T	0.21042	-1.0257	9	0.66056	D	0.02	-11.1109	4.4848	0.11785	0.0:0.5809:0.1647:0.2545	.	271	Q8N365	CA051_HUMAN	F	183;271;183;183;271	.	ENSP00000290363:L271F	L	+	1	0	C1orf51	148525643	0.024000	0.19004	0.633000	0.29310	0.930000	0.56654	0.159000	0.16442	0.459000	0.27016	0.655000	0.94253	CTC		0.522	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1				21	180	0	0	0	1	0	21	180		
CIART	148523	broad.mit.edu	37	1	150259021	150259021	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150259021C>T	ENST00000290363.5	+	5	1262	c.813C>T	c.(811-813)ctC>ctT	p.L271L	C1orf51_ENST00000369095.1_Silent_p.L271L|C1orf51_ENST00000369094.1_Silent_p.L183L	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		271					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCCCTCTCAGCTCCCCAG	0.527																																						uc001euh.2		NaN																	0					0						c.(811-813)CTC>CTT		hypothetical protein LOC148523							225.0	182.0	197.0					1																	150259021		2203	4300	6503	SO:0001819	synonymous_variant	148523							g.chr1:150259021C>T																												ENST00000290363.5:c.813C>T	1.37:g.150259021C>T						C1orf51_uc001eui.2_Silent_p.L183L|C1orf51_uc001euj.2_Silent_p.L271L	p.L271L	NM_144697	NP_653298	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	949	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		271					B2RD43|D3DV01|Q8N795|Q96MG6	Silent	SNP	ENST00000290363.5	37	c.813C>T	CCDS949.1																																																																																				0.527	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1				16	185	0	0	0	1	0	16	185		
TARS2	80222	broad.mit.edu	37	1	150463082	150463082	+	Missense_Mutation	SNP	C	C	G	rs199711849		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150463082C>G	ENST00000369064.3	+	4	427	c.393C>G	c.(391-393)ttC>ttG	p.F131L	TARS2_ENST00000606933.1_Missense_Mutation_p.F131L|TARS2_ENST00000369054.2_Missense_Mutation_p.F131L|TARS2_ENST00000438568.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	131					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCCAGGTGTTCTGGCACTCCA	0.488																																						uc001euq.2		NaN																	0				ovary(1)	1						c.(391-393)TTC>TTG		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						92.0	91.0	91.0					1																	150463082		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150463082C>G	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.393C>G	1.37:g.150463082C>G	ENSP00000358060:p.Phe131Leu					TARS2_uc010pcd.1_Intron|TARS2_uc001eur.2_Missense_Mutation_p.F131L|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.F131L	p.F131L	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		4	400	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		131					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.393C>G	CCDS952.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771282	0.49680	.	.	ENSG00000143374	ENST00000369054;ENST00000369064	T;T	0.04917	3.53;3.53	5.36	5.36	0.76844	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.139441	0.51477	D	0.000093	T	0.04588	0.0125	M	0.66439	2.03	0.80722	D	1	B;B	0.30406	0.278;0.0	B;B	0.27887	0.084;0.002	T	0.07635	-1.0762	10	0.51188	T	0.08	-0.2144	12.2509	0.54597	0.0:0.9222:0.0:0.0778	.	131;131	Q9H9V2;Q9BW92	.;SYTM_HUMAN	L	131	ENSP00000358050:F131L;ENSP00000358060:F131L	ENSP00000358050:F131L	F	+	3	2	TARS2	148729706	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	0.452000	0.21795	2.774000	0.95407	0.655000	0.94253	TTC		0.488	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1		NM_025150		22	125	0	0	0	1	0	22	125		
HORMAD1	84072	broad.mit.edu	37	1	150676602	150676602	+	Missense_Mutation	SNP	G	G	C	rs201423966		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150676602G>C	ENST00000361824.2	-	12	1045	c.940C>G	c.(940-942)Cat>Gat	p.H314D	HORMAD1_ENST00000322343.7_Missense_Mutation_p.H307D|HORMAD1_ENST00000368995.4_Missense_Mutation_p.H234D|RNU6-1042P_ENST00000384204.1_RNA|HORMAD1_ENST00000368993.2_Missense_Mutation_p.H314D	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	314					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACCTGAGAATGAGAAATAGAA	0.308																																						uc001evk.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(940-942)CAT>GAT		HORMA domain containing 1							26.0	28.0	27.0					1																	150676602		2199	4292	6491	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150676602G>C	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.940C>G	1.37:g.150676602G>C	ENSP00000355167:p.His314Asp					HORMAD1_uc001evl.1_Missense_Mutation_p.H307D|HORMAD1_uc001evm.1_Missense_Mutation_p.H234D	p.H314D	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		12	1046	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		314					A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.940C>G	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	1.507	-0.550537	0.03996	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.42900	0.96;1.56;1.55;1.56	5.36	5.36	0.76844	.	0.315746	0.36740	N	0.002427	T	0.09686	0.0238	N	0.12182	0.205	0.27758	N	0.943918	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.004;0.004;0.001	T	0.11567	-1.0582	10	0.12766	T	0.61	-6.5437	11.6956	0.51542	0.0:0.0:0.8235:0.1765	.	234;307;314	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	D	234;314;243;234;307;314	ENSP00000357991:H234D;ENSP00000357989:H314D;ENSP00000326489:H307D;ENSP00000355167:H314D	ENSP00000326489:H307D	H	-	1	0	HORMAD1	148943226	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	2.106000	0.41835	2.510000	0.84645	0.650000	0.86243	CAT		0.308	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1		NM_032132		13	10	0	0	0	1	0	13	10		
SETDB1	9869	broad.mit.edu	37	1	150936790	150936790	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150936790G>C	ENST00000271640.5	+	22	4016	c.3826G>C	c.(3826-3828)Gag>Cag	p.E1276Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.E1275Q|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_3'UTR|CERS2_ENST00000345896.4_5'Flank	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1276	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGGCAAGGAGCTACTCTG	0.507																																						uc001evu.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(3826-3828)GAG>CAG		SET domain, bifurcated 1 isoform 1							183.0	141.0	155.0					1																	150936790		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936790G>C	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3826G>C	1.37:g.150936790G>C	ENSP00000271640:p.Glu1276Gln					SETDB1_uc001evv.2_Missense_Mutation_p.E1275Q	p.E1276Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		22	4016	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1276			Post-SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3826G>C	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138316	0.37728	.	.	ENSG00000143379	ENST00000271640;ENST00000368969	D;D	0.87729	-2.28;-2.29	4.81	4.81	0.61882	Post-SET domain (2);	0.167783	0.50627	D	0.000103	T	0.60196	0.2250	N	0.05351	-0.065	0.80722	D	1	P;P	0.45902	0.868;0.608	B;B	0.38225	0.268;0.205	T	0.66602	-0.5882	10	0.23891	T	0.37	.	11.2196	0.48846	0.0851:0.0:0.9149:0.0	.	1275;1276	Q15047-3;Q15047	.;SETB1_HUMAN	Q	1276;1275	ENSP00000271640:E1276Q;ENSP00000357965:E1275Q	ENSP00000271640:E1276Q	E	+	1	0	SETDB1	149203414	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.694000	0.84235	2.493000	0.84123	0.462000	0.41574	GAG		0.507	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2				10	60	0	0	0	1	0	10	60		
PIP5K1A	8394	broad.mit.edu	37	1	151214948	151214948	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151214948G>C	ENST00000368888.4	+	14	1967	c.1545G>C	c.(1543-1545)caG>caC	p.Q515H	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.Q453H|PIP5K1A_ENST00000414290.2_Intron|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.Q503H|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.Q475H	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	515					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTTACCTCAGACTCCACCTT	0.458																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1543-1545)CAG>CAC		phosphatidylinositol-4-phosphate 5-kinase, type							91.0	88.0	89.0					1																	151214948		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151214948G>C	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.1545G>C	1.37:g.151214948G>C	ENSP00000357883:p.Gln515His					PIP5K1A_uc001exi.2_Missense_Mutation_p.Q502H|PIP5K1A_uc010pcu.1_Missense_Mutation_p.Q475H|PIP5K1A_uc001exk.2_Missense_Mutation_p.Q453H|PIP5K1A_uc010pcv.1_Intron	p.Q515H	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		14	1997	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		515					A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.1545G>C	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403160	0.62288	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.35421	1.67;1.66;1.39;1.31;1.66	4.33	2.45	0.29901	.	0.141721	0.44285	D	0.000463	T	0.28167	0.0695	M	0.69823	2.125	0.80722	D	1	P;D;P;D	0.54601	0.941;0.958;0.835;0.967	P;P;P;P	0.54312	0.735;0.748;0.615;0.748	T	0.17077	-1.0381	10	0.18276	T	0.48	.	5.6129	0.17416	0.3111:0.0:0.6889:0.0	.	475;453;515;502	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	H	502;503;475;453;515	ENSP00000271663:Q502H;ENSP00000386432:Q503H;ENSP00000415648:Q475H;ENSP00000357885:Q453H;ENSP00000357883:Q515H	ENSP00000271663:Q502H	Q	+	3	2	PIP5K1A	149481572	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.221000	0.32503	1.190000	0.43042	-0.137000	0.14449	CAG		0.458	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2		NM_003557		37	132	0	0	0	1	0	37	132		
ZNF687	57592	broad.mit.edu	37	1	151259814	151259814	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151259814C>T	ENST00000368879.2	+	2	1145	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAACTCAGGTCCCCTCAGATC	0.562																																						uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(1045-1047)GTC>GTT		zinc finger protein 687							65.0	62.0	63.0					1																	151259814		2203	4300	6503	SO:0001819	synonymous_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259814C>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1047C>T	1.37:g.151259814C>T						ZNF687_uc001exp.1_Silent_p.V358V|ZNF687_uc009wmo.2_Silent_p.V349V|ZNF687_uc009wmp.2_Silent_p.V349V	p.V349V	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1145	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		349					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP	ENST00000368879.2	37	c.1047C>T																																																																																					0.562	ZNF687-201	KNOWN	basic	protein_coding	protein_coding			NM_020832		39	60	0	0	0	1	0	39	60		
LINGO4	339398	broad.mit.edu	37	1	151773919	151773919	+	Missense_Mutation	SNP	C	C	T	rs143154971		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151773919C>T	ENST00000368820.3	-	2	2199	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	421	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AATGACCCATCGAGGCCCCGA	0.607																																						uc001ezf.1		NaN																	0				large_intestine(1)	1						c.(1261-1263)CGA>CAA		leucine rich repeat and Ig domain containing 4		C	GLN/ARG	0,4406		0,0,2203	52.0	53.0	53.0		1262	5.5	0.1	1	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense	LINGO4	NM_001004432.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	421/594	151773919	1,13005	2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151773919C>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1262G>A	1.37:g.151773919C>T	ENSP00000357810:p.Arg421Gln						p.R421Q	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1452	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		421			Extracellular (Potential).|Ig-like C2-type.			Missense_Mutation	SNP	ENST00000368820.3	37	c.1262G>A	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	C	4.751	0.139569	0.09083	0.0	1.16E-4	ENSG00000213171	ENST00000368820	T	0.66995	-0.24	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000483	T	0.23054	0.0557	N	0.04132	-0.27	0.46521	D	0.999089	B	0.28971	0.229	B	0.22601	0.04	T	0.38929	-0.9638	10	0.02654	T	1	.	17.0271	0.86450	0.0:1.0:0.0:0.0	.	421	Q6UY18	LIGO4_HUMAN	Q	421	ENSP00000357810:R421Q	ENSP00000357810:R421Q	R	-	2	0	LINGO4	150040543	1.000000	0.71417	0.103000	0.21229	0.965000	0.64279	3.990000	0.56965	2.884000	0.98904	0.655000	0.94253	CGA		0.607	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1		XM_291387		13	126	0	0	0	1	0	13	126		
TCHH	7062	broad.mit.edu	37	1	152083292	152083292	+	Nonsense_Mutation	SNP	C	C	A	rs200637350		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:152083292C>A	ENST00000368804.1	-	2	2400	c.2401G>T	c.(2401-2403)Gag>Tag	p.E801*		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	801					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCGCTCCTCGGCCCTCAGC	0.682																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2401-2403)GAG>TAG		trichohyalin							23.0	29.0	27.0					1																	152083292		2014	4167	6181	SO:0001587	stop_gained	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083292C>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2401G>T	1.37:g.152083292C>A	ENSP00000357794:p.Glu801*					TCHH_uc009wne.1_Nonsense_Mutation_p.E801*	p.E801*	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2401	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		801					Q5VUI3	Nonsense_Mutation	SNP	ENST00000368804.1	37	c.2401G>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	28.6	4.930250	0.92389	.	.	ENSG00000159450	ENST00000368804	.	.	.	4.67	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-2.3011	6.6591	0.23004	0.0:0.7707:0.0:0.2293	.	.	.	.	X	801	.	ENSP00000357794:E801X	E	-	1	0	TCHH	150349916	0.000000	0.05858	0.162000	0.22713	0.092000	0.18411	-0.821000	0.04452	0.904000	0.36572	0.306000	0.20318	GAG		0.682	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		16	95	1	0	2.23348e-06	1	2.36288e-06	16	95		
FLG	2312	broad.mit.edu	37	1	152279889	152279889	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:152279889A>C	ENST00000368799.1	-	3	7508	c.7473T>G	c.(7471-7473)caT>caG	p.H2491Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2491	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGCTGTGATGAGACCCTG	0.542									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7471-7473)CAT>CAG		filaggrin							327.0	309.0	315.0					1																	152279889		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279889A>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7473T>G	1.37:g.152279889A>C	ENSP00000357789:p.His2491Gln						p.H2491Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7509	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2491			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7473T>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	1.751	-0.489297	0.04352	.	.	ENSG00000143631	ENST00000368799	T	0.04015	3.73	2.27	-4.54	0.03452	.	.	.	.	.	T	0.01287	0.0042	M	0.80982	2.52	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.49457	-0.8938	9	0.13470	T	0.59	.	2.1349	0.03759	0.2559:0.4627:0.1257:0.1557	.	2491	P20930	FILA_HUMAN	Q	2491	ENSP00000357789:H2491Q	ENSP00000357789:H2491Q	H	-	3	2	FLG	150546513	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-4.093000	0.00296	-2.890000	0.00315	0.254000	0.18369	CAT		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		186	609	0	0	0	1	0	186	609		
NUP210L	91181	broad.mit.edu	37	1	154076593	154076593	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:154076593G>A	ENST00000368559.3	-	13	1785	c.1714C>T	c.(1714-1716)Cac>Tac	p.H572Y	NUP210L_ENST00000271854.3_Missense_Mutation_p.H572Y|MIR5698_ENST00000577643.1_RNA	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	572					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTATTTATGTGATACATTGCA	0.388																																						uc001fdw.2		NaN																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(1714-1716)CAC>TAC		nucleoporin 210kDa-like isoform 1							168.0	153.0	158.0					1																	154076593		1865	4108	5973	SO:0001583	missense	91181					integral to membrane		g.chr1:154076593G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1714C>T	1.37:g.154076593G>A	ENSP00000357547:p.His572Tyr					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.H572Y	p.H572Y	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		13	1786	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		572					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1714C>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	3.454	-0.111386	0.06881	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05580	3.42;3.42	4.83	4.83	0.62350	.	0.200582	0.35151	N	0.003420	T	0.01523	0.0049	L	0.44542	1.39	0.29528	N	0.852983	B;B	0.28713	0.22;0.1	B;B	0.19148	0.024;0.024	T	0.41233	-0.9520	10	0.02654	T	1	-7.8955	10.7198	0.46034	0.0902:0.0:0.9098:0.0	.	572;572	E7EP56;Q5VU65	.;P210L_HUMAN	Y	572	ENSP00000357547:H572Y;ENSP00000271854:H572Y	ENSP00000271854:H572Y	H	-	1	0	NUP210L	152343217	0.995000	0.38212	0.994000	0.49952	0.810000	0.45777	3.250000	0.51445	2.508000	0.84585	0.650000	0.86243	CAC		0.388	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3		NM_207308		20	126	0	0	0	1	0	20	126		
ADAR	103	broad.mit.edu	37	1	154573729	154573729	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:154573729C>T	ENST00000368474.4	-	2	1588	c.1389G>A	c.(1387-1389)ttG>ttA	p.L463L	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Silent_p.L506L|ADAR_ENST00000368471.3_Silent_p.L168L	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	463					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGATACTATTCAAGTCATCTG	0.498																																						uc001ffh.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1387-1389)TTG>TTA		adenosine deaminase, RNA-specific isoform a							121.0	106.0	111.0					1																	154573729		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154573729C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1389G>A	1.37:g.154573729C>T						ADAR_uc001ffj.2_Silent_p.L463L|ADAR_uc001ffi.2_Silent_p.L463L|ADAR_uc001ffk.2_Silent_p.L168L|ADAR_uc001ffl.1_Silent_p.L168L	p.L463L	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	1589	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		463					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.1389G>A	CCDS1071.1																																																																																				0.498	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2		NM_001111		8	68	0	0	0	1	0	8	68		
TRIM46	80128	broad.mit.edu	37	1	155149435	155149435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:155149435G>A	ENST00000334634.4	+	4	697	c.697G>A	c.(697-699)Gag>Aag	p.E233K	TRIM46_ENST00000368382.1_Missense_Mutation_p.E210K|TRIM46_ENST00000368383.3_Missense_Mutation_p.E233K|TRIM46_ENST00000543729.1_Missense_Mutation_p.E240K|TRIM46_ENST00000545012.1_Missense_Mutation_p.E107K|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.E233K|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000392451.2_Missense_Mutation_p.E233K	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	233						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCACAAGGAAGAGGTGACCCA	0.557											OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fhs.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(697-699)GAG>AAG		tripartite motif-containing 46							162.0	153.0	156.0					1																	155149435		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155149435G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.697G>A	1.37:g.155149435G>A	ENSP00000334657:p.Glu233Lys		OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1768	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.E220K|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.E233K|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.E107K|TRIM46_uc001fhu.1_Missense_Mutation_p.E210K|TRIM46_uc009wpg.1_Missense_Mutation_p.E220K|TRIM46_uc001fhv.3_Missense_Mutation_p.E220K|TRIM46_uc001fhw.1_RNA	p.E233K	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	780	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		233			B box-type.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.697G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547821	0.45383	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.43	5.43	0.79202	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	N	0.00894	-1.105	0.41219	D	0.986498	D;B;P;B;D	0.67145	0.996;0.008;0.573;0.005;0.996	D;B;B;B;D	0.77557	0.981;0.011;0.23;0.007;0.99	T	0.39396	-0.9616	10	0.02654	T	1	.	10.5332	0.44988	0.0882:0.0:0.9118:0.0	.	220;233;210;233;233	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	K	240;220;233;107;233;233;210;233	ENSP00000442719:E240K;ENSP00000357369:E233K;ENSP00000440254:E107K;ENSP00000376245:E233K;ENSP00000357367:E233K;ENSP00000357366:E210K;ENSP00000334657:E233K	ENSP00000334657:E233K	E	+	1	0	TRIM46	153416059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.838000	0.55828	2.722000	0.93159	0.655000	0.94253	GAG		0.557	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1		NM_025058		50	93	0	0	0	1	0	50	93		
RUSC1	23623	broad.mit.edu	37	1	155294700	155294700	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:155294700G>A	ENST00000368352.5	+	3	1573	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Silent_p.Q5Q|RUSC1_ENST00000368349.4_Silent_p.Q5Q|RUSC1_ENST00000368347.4_Silent_p.Q64Q|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Silent_p.Q474Q	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	474	Interaction with TRAF6.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAGAAGCCCAGAGTGGGACTG	0.642											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fkj.2		NaN																	0				ovary(2)	2						c.(1420-1422)CAG>CAA		RUN and SH3 domain containing 1 isoform a							114.0	121.0	119.0					1																	155294700		2203	4300	6503	SO:0001819	synonymous_variant	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155294700G>A	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1422G>A	1.37:g.155294700G>A			OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1769	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Silent_p.Q474Q|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Silent_p.Q5Q|RUSC1_uc001fkl.2_Silent_p.Q64Q|RUSC1_uc001fkp.2_Silent_p.Q5Q|RUSC1_uc001fkq.2_Silent_p.Q5Q|RUSC1_uc010pgb.1_Silent_p.Q5Q|RUSC1_uc009wqp.1_5'UTR|RUSC1_uc001fkn.2_Intron|RUSC1_uc001fko.2_Intron|RUSC1_uc001fkr.2_Silent_p.Q5Q|RUSC1_uc001fks.2_5'Flank	p.Q474Q	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		3	1651	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		474					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	c.1422G>A	CCDS41410.1																																																																																				0.642	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1				34	122	0	0	0	1	0	34	122		
FCRL2	79368	broad.mit.edu	37	1	157738293	157738293	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:157738293A>G	ENST00000361516.3	-	5	842	c.794T>C	c.(793-795)gTg>gCg	p.V265A	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.V265A|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	265	Ig-like C2-type 3.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTCTCTTTCACAGCTGGGAT	0.507																																						uc001fre.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(793-795)GTG>GCG		Fc receptor-like 2 precursor							186.0	183.0	184.0					1																	157738293		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157738293A>G	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.794T>C	1.37:g.157738293A>G	ENSP00000355157:p.Val265Ala					FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.V265A|FCRL2_uc009wsp.2_Intron	p.V265A	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	853	-	all_hematologic(112;0.0378)		265			Ig-like C2-type 3.|Extracellular (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.794T>C	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.415677	0.42817	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.15017	2.46;2.46	3.89	-0.00323	0.14026	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.534882	0.14705	N	0.303319	T	0.10252	0.0251	L	0.56280	1.765	0.09310	N	1	P;D	0.54397	0.616;0.966	P;P	0.58391	0.449;0.838	T	0.09443	-1.0674	10	0.28530	T	0.3	.	2.7239	0.05208	0.5862:0.0:0.2222:0.1916	.	265;265	B4DVJ9;Q96LA5	.;FCRL2_HUMAN	A	265	ENSP00000355157:V265A;ENSP00000376100:V265A	ENSP00000355157:V265A	V	-	2	0	FCRL2	156004917	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.417000	0.21214	-0.112000	0.11979	0.533000	0.62120	GTG		0.507	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2		NM_030764		56	247	0	0	0	1	0	56	247		
CD1B	910	broad.mit.edu	37	1	158299235	158299235	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158299235C>A	ENST00000368168.3	-	4	918	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	271	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCCTCCCCATCTGCCACATCC	0.592																																						uc001frx.2		NaN																	0				ovary(2)	2						c.(811-813)GAT>TAT		CD1B antigen precursor							104.0	96.0	98.0					1																	158299235		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299235C>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.811G>T	1.37:g.158299235C>A	ENSP00000357150:p.Asp271Tyr					CD1B_uc001frw.2_Intron	p.D271Y	NM_001764	NP_001755	P29016	CD1B_HUMAN			4	919	-	all_hematologic(112;0.0378)		271			Extracellular (Potential).|Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.811G>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	C	2.694	-0.272566	0.05716	.	.	ENSG00000158485	ENST00000368168	T	0.02709	4.19	4.26	1.19	0.21007	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.348794	0.21007	N	0.081742	T	0.00637	0.0021	N	0.24115	0.695	0.09310	N	1	B	0.30068	0.267	B	0.20767	0.031	T	0.48875	-0.8996	10	0.87932	D	0	-1.3776	4.9242	0.13885	0.3732:0.5242:0.0:0.1026	.	271	P29016	CD1B_HUMAN	Y	271	ENSP00000357150:D271Y	ENSP00000357150:D271Y	D	-	1	0	CD1B	156565859	0.001000	0.12720	0.000000	0.03702	0.071000	0.16799	0.061000	0.14366	0.149000	0.19098	-0.182000	0.12963	GAT		0.592	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2		NM_001764		12	235	1	0	3.27435e-08	1	3.53832e-08	12	235		
SPTA1	6708	broad.mit.edu	37	1	158607885	158607885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158607885C>G	ENST00000368147.4	-	36	5307	c.5127G>C	c.(5125-5127)ttG>ttC	p.L1709F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1709					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGCCTCTTTCAATTTTTCGT	0.423																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5125-5127)TTG>TTC		spectrin, alpha, erythrocytic 1							132.0	123.0	126.0					1																	158607885		1889	4115	6004	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158607885C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5127G>C	1.37:g.158607885C>G	ENSP00000357129:p.Leu1709Phe						p.L1709F	NM_003126	NP_003117	P02549	SPTA1_HUMAN			36	5326	-	all_hematologic(112;0.0378)		1709			Spectrin 16.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5127G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224403	0.58668	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.80738	-1.41;-1.41	5.45	3.5	0.40072	.	0.000000	0.26265	N	0.025368	D	0.87537	0.6202	M	0.88377	2.95	0.44254	D	0.997105	D	0.89917	1.0	D	0.97110	1.0	D	0.88897	0.3350	10	0.87932	D	0	.	9.6245	0.39741	0.0:0.7321:0.1824:0.0855	.	1709	P02549	SPTA1_HUMAN	F	1709	ENSP00000357130:L1709F;ENSP00000357129:L1709F	ENSP00000357129:L1709F	L	-	3	2	SPTA1	156874509	0.992000	0.36948	0.999000	0.59377	0.762000	0.43233	0.258000	0.18387	1.525000	0.49052	0.655000	0.94253	TTG		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		16	186	0	0	0	1	0	16	186		
OR6N2	81442	broad.mit.edu	37	1	158746673	158746673	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158746673G>A	ENST00000339258.1	-	1	752	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGCTCCCAAAGAAGATGAGGA	0.458																																						uc010pir.1		NaN																	0					0						c.(751-753)TTC>TTT		olfactory receptor, family 6, subfamily N,							86.0	84.0	85.0					1																	158746673		2203	4300	6503	SO:0001819	synonymous_variant	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746673G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.753C>T	1.37:g.158746673G>A							p.F251F	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	753	-	all_hematologic(112;0.0378)		251			Helical; Name=6; (Potential).		Q6IFR2	Silent	SNP	ENST00000339258.1	37	c.753C>T	CCDS30906.1																																																																																				0.458	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1				9	115	0	0	0	1	0	9	115		
KCNJ9	3765	broad.mit.edu	37	1	160054012	160054012	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:160054012C>T	ENST00000368088.3	+	2	434	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	64					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTTGTTCTTCGTCCTGGCCT	0.657																																						uc001fuy.1		NaN																	0				ovary(1)|skin(1)	2						c.(190-192)TTC>TTT		potassium inwardly-rectifying channel subfamily							72.0	49.0	57.0					1																	160054012		2203	4300	6503	SO:0001819	synonymous_variant	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054012C>T	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.192C>T	1.37:g.160054012C>T							p.F64F	NM_004983	NP_004974	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	434	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		64			Helical; Name=M1; (By similarity).		Q5JW75	Silent	SNP	ENST00000368088.3	37	c.192C>T	CCDS1194.1																																																																																				0.657	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1		NM_004983		7	46	0	0	0	1	0	7	46		
PPOX	5498	broad.mit.edu	37	1	161138284	161138284	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161138284C>T	ENST00000367999.4	+	6	800	c.534C>T	c.(532-534)ctC>ctT	p.L178L	PPOX_ENST00000352210.5_Silent_p.L178L|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	178			L -> V (in VP; strongly decreases enzyme activity). {ECO:0000269|PubMed:11102990}.		heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCGTGAGCTCAGCATCAGGT	0.542																																						uc001fyj.2		NaN																	0				ovary(1)	1						c.(532-534)CTC>CTT		protoporphyrinogen oxidase							141.0	123.0	129.0					1																	161138284		2203	4300	6503	SO:0001819	synonymous_variant	5498	Porphyria_Variegata			heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161138284C>T	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.534C>T	1.37:g.161138284C>T						PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Silent_p.L178L|PPOX_uc001fyl.2_Silent_p.L144L|PPOX_uc001fym.2_Intron|PPOX_uc001fyk.2_Silent_p.L16L|PPOX_uc001fyh.2_Silent_p.L16L|PPOX_uc010pkg.1_Silent_p.L16L|PPOX_uc009wuc.1_Silent_p.L16L|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Silent_p.L16L	p.L178L	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		6	824	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		178					D3DVG0|Q5VTW8	Silent	SNP	ENST00000367999.4	37	c.534C>T	CCDS1221.1																																																																																				0.542	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1		NM_000309		17	232	0	0	0	1	0	17	232		
PPOX	5498	broad.mit.edu	37	1	161139803	161139803	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161139803C>G	ENST00000367999.4	+	9	1242	c.976C>G	c.(976-978)Ctg>Gtg	p.L326V	PPOX_ENST00000352210.5_Missense_Mutation_p.L326V|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	326					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGGAGCCCATCTGCCTGTCCA	0.582																																						uc001fyj.2		NaN																	0				ovary(1)	1						c.(976-978)CTG>GTG		protoporphyrinogen oxidase							53.0	45.0	48.0					1																	161139803		2203	4300	6503	SO:0001583	missense	5498	Porphyria_Variegata			heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161139803C>G	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.976C>G	1.37:g.161139803C>G	ENSP00000356978:p.Leu326Val					PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.L326V|PPOX_uc001fyl.2_Missense_Mutation_p.L292V|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.L164V|PPOX_uc001fyh.2_Missense_Mutation_p.L164V|PPOX_uc010pkg.1_Missense_Mutation_p.L164V|PPOX_uc009wuc.1_Missense_Mutation_p.L164V|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Missense_Mutation_p.L164V	p.L326V	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	1266	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		326					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.976C>G	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.43|17.43	3.387766|3.387766	0.61956|0.61956	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537829|ENST00000352210;ENST00000367999;ENST00000435935	.|D;D	.|0.92545	.|-3.06;-3.06	5.43|5.43	4.53|4.53	0.55603|0.55603	.|Amine oxidase (1);	.|0.149327	.|0.45867	.|D	.|0.000323	D|D	0.90205|0.90205	0.6938|0.6938	L|L	0.53780|0.53780	1.695|1.695	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.46578	.|0.756;0.88;0.771	.|B;P;P	.|0.55112	.|0.401;0.769;0.456	D|D	0.89439|0.89439	0.3722|0.3722	5|10	.|0.39692	.|T	.|0.17	2.3477|2.3477	9.778|9.778	0.40632|0.40632	0.0:0.9082:0.0:0.0918|0.0:0.9082:0.0:0.0918	.|.	.|293;164;326	.|B4DY76;B3KT30;P50336	.|.;.;PPOX_HUMAN	M|V	48|326;326;293	.|ENSP00000343943:L326V;ENSP00000356978:L326V	.|ENSP00000343943:L326V	I|L	+|+	3|1	3|2	PPOX|PPOX	159406427|159406427	0.892000|0.892000	0.30473|0.30473	0.892000|0.892000	0.35008|0.35008	0.592000|0.592000	0.36648|0.36648	1.679000|1.679000	0.37597|0.37597	1.530000|1.530000	0.49136|0.49136	0.650000|0.650000	0.86243|0.86243	ATC|CTG		0.582	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1		NM_000309		10	58	0	0	0	1	0	10	58		
PPOX	5498	broad.mit.edu	37	1	161140823	161140823	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161140823G>C	ENST00000367999.4	+	13	1557		c.e13-1		PPOX_ENST00000352210.5_Splice_Site|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000544598.1_Splice_Site|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTTCCTTCCAGAGTCAGCTAG	0.517																																						uc001fyj.2		NaN																	0				ovary(1)	1						c.e13-1		protoporphyrinogen oxidase							121.0	127.0	125.0					1																	161140823		2203	4300	6503	SO:0001630	splice_region_variant	5498	Porphyria_Variegata			heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161140823G>C	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1292-1G>C	1.37:g.161140823G>C						PPOX_uc001fyn.2_Splice_Site_p.E139_splice|PPOX_uc001fyg.2_Splice_Site_p.E431_splice|PPOX_uc001fyl.2_Splice_Site_p.E397_splice|PPOX_uc001fym.2_Splice_Site|PPOX_uc001fyk.2_Splice_Site_p.E269_splice|PPOX_uc001fyh.2_Splice_Site_p.E269_splice|PPOX_uc010pkg.1_Splice_Site_p.E269_splice|PPOX_uc009wuc.1_Splice_Site_p.E232_splice|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron	p.E431_splice	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		13	1582	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)							D3DVG0|Q5VTW8	Splice_Site	SNP	ENST00000367999.4	37	c.1292_splice	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	8.976	0.974059	0.18736	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000544598;ENST00000435935;ENST00000537523	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9888	0.58606	0.0:0.1628:0.8372:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPOX	159407447	1.000000	0.71417	0.994000	0.49952	0.330000	0.28571	5.844000	0.69430	2.582000	0.87167	0.650000	0.86243	.		0.517	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1		NM_000309	Intron	35	350	0	0	0	1	0	35	350		
SDHC	6391	broad.mit.edu	37	1	161298268	161298268	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161298268C>A	ENST00000367975.2	+	3	309	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	SDHC_ENST00000392169.2_Intron|SDHC_ENST00000432287.2_Intron|SDHC_ENST00000342751.4_Missense_Mutation_p.P54T|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000513009.1_Intron	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	54					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TCCTCTGTCTCCCCACATTAC	0.443			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																													uc001gag.2		NaN	yes	Rec		Familial paraganglioma	1	1q21	6391	Mis|N|F	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""			O		paraganglioma|pheochromocytoma			0					0						c.(160-162)CCC>ACC		succinate dehydrogenase complex, subunit C	Succinic acid(DB00139)						97.0	97.0	97.0					1																	161298268		2203	4300	6503	SO:0001583	missense	6391	Familial_Paragangliomas|Carney-Stratakis_syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity	g.chr1:161298268C>A	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.160C>A	1.37:g.161298268C>A	ENSP00000356953:p.Pro54Thr					SDHC_uc001gai.2_Missense_Mutation_p.P54T|SDHC_uc001gaj.2_Intron|SDHC_uc001gak.2_Intron|SDHC_uc001gah.2_Intron	p.P54T	NM_003001	NP_002992	Q99643	C560_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	190	+	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		54			Mitochondrial matrix (By similarity).		O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Missense_Mutation	SNP	ENST00000367975.2	37	c.160C>A	CCDS1230.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662301	0.67700	.	.	ENSG00000143252	ENST00000367975;ENST00000342751	D;D	0.99143	-5.48;-5.48	5.72	5.72	0.89469	Succinate dehydrogenase, cytochrome b subunit, conserved site (1);	0.101842	0.64402	D	0.000002	D	0.99641	0.9868	H	0.98178	4.165	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97735	1.0205	9	0.87932	D	0	.	17.3691	0.87371	0.0:1.0:0.0:0.0	.	54;54	Q99643-2;Q99643	.;C560_HUMAN	T	54	ENSP00000356953:P54T;ENSP00000356952:P54T	ENSP00000356952:P54T	P	+	1	0	SDHC	159564892	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	5.408000	0.66368	2.699000	0.92147	0.591000	0.81541	CCC		0.443	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2		NM_003001		122	75	1	0	3.35115e-56	1	3.90244e-56	122	75		
ADCY10	55811	broad.mit.edu	37	1	167815465	167815465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:167815465G>A	ENST00000367851.4	-	20	2658	c.2474C>T	c.(2473-2475)tCc>tTc	p.S825F	ADCY10_ENST00000545172.1_Missense_Mutation_p.S672F|ADCY10_ENST00000367848.1_Missense_Mutation_p.S733F	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	825					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATTTGGTGGGAAAGTCTCAT	0.418																																						uc001ger.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(2473-2475)TCC>TTC		adenylate cyclase 10							128.0	128.0	128.0					1																	167815465		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167815465G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2474C>T	1.37:g.167815465G>A	ENSP00000356825:p.Ser825Phe					ADCY10_uc009wvk.2_Missense_Mutation_p.S733F|ADCY10_uc010plj.1_Missense_Mutation_p.S672F|ADCY10_uc009wvl.2_Missense_Mutation_p.S824F	p.S825F	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			20	2772	-			825					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.2474C>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416816	0.42918	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.32515	1.45;1.46;1.45	5.69	5.69	0.88448	.	0.454594	0.21371	N	0.075626	T	0.42017	0.1184	M	0.70595	2.14	0.30080	N	0.8092630000000001	P;P;P	0.48589	0.853;0.912;0.747	P;P;B	0.56960	0.679;0.81;0.422	T	0.35276	-0.9795	9	0.59425	D	0.04	-14.3826	15.3821	0.74664	0.0:0.0:1.0:0.0	.	672;733;825	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	F	672;825;733	ENSP00000441992:S672F;ENSP00000356825:S825F;ENSP00000356822:S733F	ENSP00000356822:S733F	S	-	2	0	ADCY10	166082089	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	3.568000	0.53820	2.703000	0.92315	0.555000	0.69702	TCC		0.418	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1		NM_018417		32	278	0	0	0	1	0	32	278		
PRDX6	9588	broad.mit.edu	37	1	173454569	173454569	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:173454569C>T	ENST00000340385.5	+	3	454	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	108	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						TGATAGGAATCGGGAGCTTGC	0.448																																						uc001giy.1		NaN																	0				central_nervous_system(1)	1						c.(322-324)CGG>TGG		peroxiredoxin 6							139.0	130.0	133.0					1																	173454569		2203	4300	6503	SO:0001583	missense	9588				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	g.chr1:173454569C>T	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.322C>T	1.37:g.173454569C>T	ENSP00000342026:p.Arg108Trp						p.R108W	NM_004905	NP_004896	P30041	PRDX6_HUMAN			3	373	+			108			Thioredoxin.		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	37	c.322C>T	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087953	0.55968	.	.	ENSG00000117592	ENST00000340385	T	0.33216	1.42	5.27	3.2	0.36748	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	H	0.98133	4.155	0.80722	D	1	D	0.59357	0.985	P	0.59825	0.864	T	0.73914	-0.3832	10	0.66056	D	0.02	-7.5403	12.78	0.57472	0.3057:0.6943:0.0:0.0	.	108	P30041	PRDX6_HUMAN	W	108	ENSP00000342026:R108W	ENSP00000342026:R108W	R	+	1	2	PRDX6	171721192	0.598000	0.26882	0.996000	0.52242	0.336000	0.28762	1.189000	0.32114	1.284000	0.44531	0.650000	0.86243	CGG		0.448	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1		NM_004905		25	66	0	0	0	1	0	25	66		
SLC9C2	284525	broad.mit.edu	37	1	173486775	173486775	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:173486775C>A	ENST00000367714.3	-	23	3230	c.2808G>T	c.(2806-2808)atG>atT	p.M936I	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	936					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ACTCTGTAAACATGTCTCTGG	0.403																																						uc001giz.2		NaN																	0				ovary(2)	2						c.(2806-2808)ATG>ATT		solute carrier family 9, member 11							143.0	148.0	147.0					1																	173486775		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173486775C>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2808G>T	1.37:g.173486775C>A	ENSP00000356687:p.Met936Ile					SLC9A11_uc009wwe.2_Missense_Mutation_p.M494I	p.M936I	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			23	3231	-			936			cNMP.		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.2808G>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	0.286	-0.982990	0.02180	.	.	ENSG00000162753	ENST00000367714	T	0.38887	1.11	5.01	-1.09	0.09904	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	1.128570	0.06649	N	0.762427	T	0.03651	0.0104	N	0.01874	-0.695	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.29150	-1.0021	10	0.15499	T	0.54	-3.543	0.5005	0.00579	0.326:0.3027:0.159:0.2123	.	936	Q5TAH2	S9A11_HUMAN	I	936	ENSP00000356687:M936I	ENSP00000356687:M936I	M	-	3	0	SLC9A11	171753398	0.001000	0.12720	0.021000	0.16686	0.017000	0.09413	0.072000	0.14617	0.127000	0.18452	-0.182000	0.12963	ATG		0.403	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1		NM_178527		15	123	1	0	3.27435e-08	1	3.53832e-08	15	123		
CEP350	9857	broad.mit.edu	37	1	179989239	179989239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:179989239C>G	ENST00000367607.3	+	12	2748	c.2330C>G	c.(2329-2331)tCt>tGt	p.S777C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	777					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATTTTGAATCTATTTTACCA	0.408																																						uc001gnt.2		NaN																	0				ovary(4)	4						c.(2329-2331)TCT>TGT		centrosome-associated protein 350							107.0	108.0	107.0					1																	179989239		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989239C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2330C>G	1.37:g.179989239C>G	ENSP00000356579:p.Ser777Cys					CEP350_uc009wxl.2_Missense_Mutation_p.S776C|CEP350_uc001gnu.2_Missense_Mutation_p.S611C	p.S777C	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			12	2713	+			777					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2330C>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170445	0.38315	.	.	ENSG00000135837	ENST00000367607	T	0.58940	0.3	6.02	6.02	0.97574	.	0.000000	0.48767	D	0.000173	T	0.49081	0.1536	L	0.29908	0.895	0.38733	D	0.953702	P;B	0.43412	0.806;0.353	B;B	0.40602	0.334;0.056	T	0.47381	-0.9122	9	.	.	.	.	18.3138	0.90210	0.0:1.0:0.0:0.0	.	777;777	E7EU22;Q5VT06	.;CE350_HUMAN	C	777	ENSP00000356579:S777C	.	S	+	2	0	CEP350	178255862	0.938000	0.31826	0.997000	0.53966	0.719000	0.41307	5.038000	0.64177	2.865000	0.98341	0.655000	0.94253	TCT		0.408	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		12	109	0	0	0	1	0	12	109		
CEP350	9857	broad.mit.edu	37	1	179989832	179989832	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:179989832C>G	ENST00000367607.3	+	12	3341	c.2923C>G	c.(2923-2925)Ctt>Gtt	p.L975V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	975					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAAAATATCTCTTGGTTCCAG	0.473																																						uc001gnt.2		NaN																	0				ovary(4)	4						c.(2923-2925)CTT>GTT		centrosome-associated protein 350							127.0	134.0	131.0					1																	179989832		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989832C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2923C>G	1.37:g.179989832C>G	ENSP00000356579:p.Leu975Val					CEP350_uc009wxl.2_Missense_Mutation_p.L974V|CEP350_uc001gnu.2_Missense_Mutation_p.L809V	p.L975V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			12	3306	+			975					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2923C>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829312	0.32329	.	.	ENSG00000135837	ENST00000367607	T	0.25085	1.82	6.02	4.12	0.48240	.	0.155329	0.29321	N	0.012488	T	0.17916	0.0430	L	0.27053	0.805	0.36973	D	0.893909	B;B	0.17852	0.024;0.006	B;B	0.12837	0.008;0.003	T	0.09079	-1.0691	9	.	.	.	.	13.1242	0.59344	0.1284:0.7483:0.1232:0.0	.	975;975	E7EU22;Q5VT06	.;CE350_HUMAN	V	975	ENSP00000356579:L975V	.	L	+	1	0	CEP350	178256455	0.111000	0.22076	0.990000	0.47175	0.926000	0.56050	1.722000	0.38042	0.853000	0.35312	-0.152000	0.13540	CTT		0.473	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		23	145	0	0	0	1	0	23	145		
RGS16	6004	broad.mit.edu	37	1	182572430	182572430	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:182572430G>A	ENST00000367558.5	-	2	237	c.89C>T	c.(88-90)tCa>tTa	p.S30L		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	30					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GCCCAGCTCTGATTTGTGAAG	0.488																																						uc001gpl.3		NaN																	0				ovary(1)	1						c.(88-90)TCA>TTA		regulator of G-protein signalling 16							174.0	157.0	163.0					1																	182572430		2203	4300	6503	SO:0001583	missense	6004				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:182572430G>A	U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.89C>T	1.37:g.182572430G>A	ENSP00000356529:p.Ser30Leu					RGS16_uc010pnv.1_Missense_Mutation_p.S30L	p.S30L	NM_002928	NP_002919	O15492	RGS16_HUMAN			2	243	-			30					B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	c.89C>T	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860821	0.71834	.	.	ENSG00000143333	ENST00000367558	T	0.56611	0.45	5.25	5.25	0.73442	.	1.258290	0.05280	N	0.519229	T	0.59742	0.2216	M	0.68593	2.085	0.31446	N	0.671341	P;B	0.37548	0.599;0.087	B;B	0.35607	0.206;0.11	T	0.62464	-0.6849	10	0.59425	D	0.04	.	17.6306	0.88106	0.0:0.0:1.0:0.0	.	30;30	B4DVW5;O15492	.;RGS16_HUMAN	L	30	ENSP00000356529:S30L	ENSP00000356529:S30L	S	-	2	0	RGS16	180839053	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.985000	0.76193	2.451000	0.82905	0.561000	0.74099	TCA		0.488	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1		NM_002928		49	63	0	0	0	1	0	49	63		
LAMC1	3915	broad.mit.edu	37	1	183086694	183086694	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:183086694G>C	ENST00000258341.4	+	10	1970	c.1713G>C	c.(1711-1713)ttG>ttC	p.L571F		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	571	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AGCAGGTGTTGAGTTATGGTC	0.502																																						uc001gpy.3		NaN																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(1711-1713)TTG>TTC		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						144.0	129.0	134.0					1																	183086694		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183086694G>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1713G>C	1.37:g.183086694G>C	ENSP00000258341:p.Leu571Phe						p.L571F	NM_002293	NP_002284	P11047	LAMC1_HUMAN			10	1970	+			571			Laminin IV type A.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1713G>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083977	0.55861	.	.	ENSG00000135862	ENST00000258341	T	0.38887	1.11	5.04	4.13	0.48395	Laminin B type IV (2);Laminin B, subgroup (1);	0.307233	0.31507	N	0.007522	T	0.26048	0.0635	N	0.25890	0.77	0.53688	D	0.999979	B	0.16396	0.017	B	0.18561	0.022	T	0.05131	-1.0904	10	0.09843	T	0.71	.	9.6256	0.39748	0.1594:0.0:0.8406:0.0	.	571	P11047	LAMC1_HUMAN	F	571	ENSP00000258341:L571F	ENSP00000258341:L571F	L	+	3	2	LAMC1	181353317	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	3.629000	0.54266	1.122000	0.41944	0.591000	0.81541	TTG		0.502	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2		NM_002293		12	68	0	0	0	1	0	12	68		
HMCN1	83872	broad.mit.edu	37	1	186151338	186151338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:186151338G>A	ENST00000271588.4	+	105	16562	c.16333G>A	c.(16333-16335)Gag>Aag	p.E5445K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E5328K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5445	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGCCAGCATGAGTGTAAGAA	0.423																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(16333-16335)GAG>AAG		hemicentin 1 precursor							148.0	142.0	144.0					1																	186151338		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186151338G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16333G>A	1.37:g.186151338G>A	ENSP00000271588:p.Glu5445Lys					HMCN1_uc001grs.1_Missense_Mutation_p.E897K	p.E5445K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			105	16562	+			5445			EGF-like 7; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.16333G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844251	0.51164	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.87256	-2.23;-2.23;-2.23	5.53	5.53	0.82687	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.093526	0.64402	D	0.000001	T	0.73179	0.3554	N	0.03917	-0.325	0.24931	N	0.991912	P	0.42827	0.791	B	0.34652	0.187	T	0.68800	-0.5313	10	0.40728	T	0.16	.	19.4713	0.94963	0.0:0.0:1.0:0.0	.	5445	Q96RW7	HMCN1_HUMAN	K	5445;5328;120	ENSP00000271588:E5445K;ENSP00000356462:E5328K;ENSP00000406205:E120K	ENSP00000271588:E5445K	E	+	1	0	HMCN1	184417961	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.562000	0.98145	2.587000	0.87381	0.563000	0.77884	GAG		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		41	81	0	0	0	1	0	41	81		
CFHR1	3078	broad.mit.edu	37	1	196797300	196797300	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:196797300G>A	ENST00000320493.5	+	4	619	c.531G>A	c.(529-531)agG>agA	p.R177R	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	177	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ATGAATGTAGGAGCCCTTATG	0.393																																						uc001gtn.2		NaN																	0					0						c.(529-531)AGG>AGA		complement factor H-related 1 precursor							67.0	99.0	89.0					1																	196797300		1798	4102	5900	SO:0001819	synonymous_variant	3078				complement activation	extracellular space		g.chr1:196797300G>A	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.531G>A	1.37:g.196797300G>A						CFHR1_uc001gtm.2_Silent_p.R81R	p.R177R	NM_002113	NP_002104	Q03591	FHR1_HUMAN			4	645	+			177			Sushi 3.		A8K465|Q3B774|Q9UJ17	Silent	SNP	ENST00000320493.5	37	c.531G>A	CCDS1386.1																																																																																				0.393	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2		NM_002113		19	31	0	0	0	1	0	19	31		
CFHR2	3080	broad.mit.edu	37	1	196883726	196883726	+	Intron	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:196883726G>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Nonsense_Mutation_p.E181*|CFHR4_ENST00000367416.2_Nonsense_Mutation_p.E427*|CFHR4_ENST00000367418.2_Nonsense_Mutation_p.E181*|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CGATGGATATGAAATCAGTTA	0.388																																						uc001gto.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(541-543)GAA>TAA		complement factor H-related 4 precursor							96.0	90.0	92.0					1																	196883726		1924	4165	6089	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196883726G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34859G>T	1.37:g.196883726G>T						CFHR4_uc009wyy.2_Nonsense_Mutation_p.E427*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.E428*	p.E181*	NM_006684	NP_006675	Q92496	FHR4_HUMAN			4	610	+			181			Sushi 3.		Q14310|Q5T9T1	Nonsense_Mutation	SNP	ENST00000367421.3	37	c.541G>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.320114	0.81469	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	.	.	.	3.53	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	10.7447	0.46172	0.0:0.0:1.0:0.0	.	.	.	.	X	427;181;181;181	.	ENSP00000251424:E181X	E	+	1	0	CFHR4	195150349	0.145000	0.22656	0.719000	0.30619	0.029000	0.11900	0.747000	0.26290	1.973000	0.57446	0.406000	0.27484	GAA		0.388	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_005666		16	60	1	0	1.02788e-11	1	1.15021e-11	16	60		
KIF14	9928	broad.mit.edu	37	1	200587334	200587334	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200587334G>C	ENST00000367350.4	-	2	956	c.518C>G	c.(517-519)tCt>tGt	p.S173C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	173	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.S173C(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GGCAACAAAAGAGTTTTTAGC	0.358																																						uc010ppk.1		NaN																	1	Substitution - Missense(1)		endometrium(1)	breast(3)|ovary(2)|skin(2)	7						c.(517-519)TCT>TGT		kinesin family member 14							98.0	101.0	100.0					1																	200587334		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587334G>C	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.518C>G	1.37:g.200587334G>C	ENSP00000356319:p.Ser173Cys					KIF14_uc010ppj.1_5'UTR	p.S173C	NM_014875	NP_055690	Q15058	KIF14_HUMAN			2	957	-			173			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.518C>G	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327817	0.41197	.	.	ENSG00000118193	ENST00000367350	T	0.74842	-0.88	5.68	2.81	0.32909	.	1.125280	0.06546	N	0.744143	T	0.61664	0.2365	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.50915	-0.8771	10	0.59425	D	0.04	.	4.9153	0.13842	0.1341:0.1123:0.6245:0.129	.	173	Q15058	KIF14_HUMAN	C	173	ENSP00000356319:S173C	ENSP00000356319:S173C	S	-	2	0	KIF14	198853957	0.001000	0.12720	0.000000	0.03702	0.435000	0.31806	0.893000	0.28336	0.339000	0.23719	-0.137000	0.14449	TCT		0.358	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1		NM_014875		37	75	0	0	0	1	0	37	75		
KIF14	9928	broad.mit.edu	37	1	200587382	200587382	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200587382G>C	ENST00000367350.4	-	2	908	c.470C>G	c.(469-471)tCt>tGt	p.S157C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	157	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ACTTTCCTTAGAAACACCATT	0.353																																						uc010ppk.1		NaN																	0				breast(3)|ovary(2)|skin(2)	7						c.(469-471)TCT>TGT		kinesin family member 14							81.0	85.0	84.0					1																	200587382		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587382G>C	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.470C>G	1.37:g.200587382G>C	ENSP00000356319:p.Ser157Cys					KIF14_uc010ppj.1_5'UTR	p.S157C	NM_014875	NP_055690	Q15058	KIF14_HUMAN			2	909	-			157			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.470C>G	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227500	0.58668	.	.	ENSG00000118193	ENST00000367350	T	0.75050	-0.9	5.68	4.58	0.56647	.	0.980576	0.08324	N	0.963275	T	0.71169	0.3308	L	0.27053	0.805	0.09310	N	0.999999	D	0.63880	0.993	P	0.49999	0.628	T	0.61544	-0.7041	10	0.49607	T	0.09	.	11.9612	0.53009	0.1477:0.0:0.8523:0.0	.	157	Q15058	KIF14_HUMAN	C	157	ENSP00000356319:S157C	ENSP00000356319:S157C	S	-	2	0	KIF14	198854005	0.104000	0.21937	0.225000	0.23894	0.186000	0.23388	2.242000	0.43106	2.674000	0.91012	0.655000	0.94253	TCT		0.353	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1		NM_014875		24	61	0	0	0	1	0	24	61		
CAMSAP2	23271	broad.mit.edu	37	1	200819297	200819297	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200819297G>A	ENST00000236925.4	+	12	3482	c.3433G>A	c.(3433-3435)Gat>Aat	p.D1145N	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.D1134N|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.D1118N			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1145					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TGAAAAATATGATGGAGAAAG	0.373																																						uc001gvl.2		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(3433-3435)GAT>AAT		calmodulin regulated spectrin-associated protein							109.0	121.0	117.0					1																	200819297		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200819297G>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3433G>A	1.37:g.200819297G>A	ENSP00000236925:p.Asp1145Asn					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.D1134N|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.D1118N	p.D1145N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			12	3703	+			1145					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3433G>A		.	.	.	.	.	.	.	.	.	.	G	13.81	2.346791	0.41599	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.15372	2.43;2.43;2.43	5.62	5.62	0.85841	.	0.304873	0.39759	N	0.001270	T	0.16471	0.0396	N	0.24115	0.695	0.24154	N	0.99568	B;B;B	0.18741	0.03;0.01;0.008	B;B;B	0.28011	0.085;0.024;0.053	T	0.16276	-1.0408	10	0.30854	T	0.27	-23.3933	20.0247	0.97519	0.0:0.0:1.0:0.0	.	1118;1145;1134	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	N	1134;1118;1145	ENSP00000351684:D1134N;ENSP00000416800:D1118N;ENSP00000236925:D1145N	ENSP00000236925:D1145N	D	+	1	0	CAMSAP1L1	199085920	1.000000	0.71417	0.895000	0.35142	0.997000	0.91878	9.799000	0.99117	2.804000	0.96469	0.655000	0.94253	GAT		0.373	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2		NM_203459		26	110	0	0	0	1	0	26	110		
KIF21B	23046	broad.mit.edu	37	1	200954093	200954093	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200954093C>T	ENST00000422435.2	-	27	4013	c.3697G>A	c.(3697-3699)Gat>Aat	p.D1233N	KIF21B_ENST00000360529.5_Missense_Mutation_p.D1233N|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1233N|KIF21B_ENST00000332129.2_Missense_Mutation_p.D1233N	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1233					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AATCCCACATCTGTGGACCTG	0.612																																						uc001gvs.1		NaN																	0				ovary(3)|skin(3)	6						c.(3697-3699)GAT>AAT		kinesin family member 21B							74.0	67.0	69.0					1																	200954093		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200954093C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3697G>A	1.37:g.200954093C>T	ENSP00000411831:p.Asp1233Asn					KIF21B_uc001gvr.1_Missense_Mutation_p.D1233N|KIF21B_uc009wzl.1_Missense_Mutation_p.D1233N|KIF21B_uc010ppn.1_Missense_Mutation_p.D1233N	p.D1233N	NM_017596	NP_060066	O75037	KI21B_HUMAN			27	4014	-			1233					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.3697G>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289112	0.80914	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72725	-0.38;-0.68;-0.64;-0.32	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	L	0.51422	1.61	0.58432	D	0.999996	D;P;P;P	0.57899	0.981;0.799;0.89;0.763	P;B;B;B	0.52109	0.69;0.276;0.419;0.311	T	0.74556	-0.3626	10	0.40728	T	0.16	.	19.5116	0.95144	0.0:1.0:0.0:0.0	.	1233;1233;1233;1233	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	N	1233	ENSP00000328494:D1233N;ENSP00000353724:D1233N;ENSP00000433808:D1233N;ENSP00000411831:D1233N	ENSP00000328494:D1233N	D	-	1	0	KIF21B	199220716	1.000000	0.71417	0.222000	0.23844	0.412000	0.31113	7.168000	0.77570	2.615000	0.88500	0.561000	0.74099	GAT		0.612	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1		XM_371332		8	40	0	0	0	1	0	8	40		
CACNA1S	779	broad.mit.edu	37	1	201030512	201030512	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:201030512G>A	ENST00000362061.3	-	25	3364	c.3138C>T	c.(3136-3138)atC>atT	p.I1046I	CACNA1S_ENST00000367338.3_Silent_p.I1046I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1046	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGATGTAGATGATGAAGAAGA	0.517																																						uc001gvv.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3136-3138)ATC>ATT		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						215.0	179.0	192.0					1																	201030512		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201030512G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3138C>T	1.37:g.201030512G>A							p.I1046I	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			25	3365	-			1046			III.|Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.3138C>T	CCDS1407.1																																																																																				0.517	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069		13	54	0	0	0	1	0	13	54		
CACNA1S	779	broad.mit.edu	37	1	201035414	201035414	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:201035414C>T	ENST00000362061.3	-	21	2914	c.2688G>A	c.(2686-2688)ctG>ctA	p.L896L	CACNA1S_ENST00000367338.3_Silent_p.L896L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	896					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGCACCCTCAGGATCTTCA	0.662																																						uc001gvv.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2686-2688)CTG>CTA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						69.0	70.0	70.0					1																	201035414		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201035414C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2688G>A	1.37:g.201035414C>T							p.L896L	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			21	2915	-			896			III.|Helical; Name=S4 of repeat III; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.2688G>A	CCDS1407.1																																																																																				0.662	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069		12	65	0	0	0	1	0	12	65		
LGR6	59352	broad.mit.edu	37	1	202272426	202272426	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202272426G>T	ENST00000367278.3	+	10	1038	c.949G>T	c.(949-951)Gac>Tac	p.D317Y	LGR6_ENST00000439764.2_Missense_Mutation_p.D178Y|LGR6_ENST00000255432.7_Missense_Mutation_p.D265Y|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	317					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGTGCCATGGACATCCAGGA	0.502																																						uc001gxu.2		NaN																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(949-951)GAC>TAC		leucine-rich repeat-containing G protein-coupled							139.0	127.0	131.0					1																	202272426		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202272426G>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.949G>T	1.37:g.202272426G>T	ENSP00000356247:p.Asp317Tyr					LGR6_uc001gxv.2_Missense_Mutation_p.D265Y|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.D178Y|LGR6_uc009xac.1_RNA	p.D317Y	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			10	949	+			317			LRR 10.|Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.949G>T	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335961	0.41398	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542;ENST00000439764	T;T;T;T	0.24908	5.48;4.34;1.83;1.85	5.8	5.8	0.92144	.	0.113133	0.64402	D	0.000013	T	0.37705	0.1013	N	0.22421	0.69	0.39674	D	0.970796	D;P;D	0.89917	1.0;0.917;0.968	D;P;P	0.78314	0.991;0.755;0.823	T	0.19877	-1.0292	10	0.56958	D	0.05	.	15.5467	0.76108	0.0:0.0:1.0:0.0	.	178;265;317	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	Y	317;265;171;171;178	ENSP00000356247:D317Y;ENSP00000255432:D265Y;ENSP00000402284:D171Y;ENSP00000387869:D178Y	ENSP00000255432:D265Y	D	+	1	0	LGR6	200539049	1.000000	0.71417	0.944000	0.38274	0.074000	0.17049	3.576000	0.53878	2.729000	0.93468	0.563000	0.77884	GAC		0.502	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1		NM_021636		17	62	1	0	5.35267e-07	1	5.71072e-07	17	62		
LGR6	59352	broad.mit.edu	37	1	202273726	202273726	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202273726G>C	ENST00000367278.3	+	11	1127	c.1038G>C	c.(1036-1038)ggG>ggC	p.G346G	LGR6_ENST00000439764.2_Silent_p.G207G|LGR6_ENST00000255432.7_Silent_p.G294G|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	346					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCCCATCGGGGATGTGCCAAC	0.632																																						uc001gxu.2		NaN																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(1036-1038)GGG>GGC		leucine-rich repeat-containing G protein-coupled							51.0	55.0	54.0					1																	202273726		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202273726G>C	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1038G>C	1.37:g.202273726G>C						LGR6_uc001gxv.2_Silent_p.G294G|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.G207G|LGR6_uc009xac.1_RNA	p.G346G	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			11	1038	+			346			LRR 11.|Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.1038G>C	CCDS30971.1																																																																																				0.632	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1		NM_021636		6	40	0	0	0	1	0	6	40		
LGR6	59352	broad.mit.edu	37	1	202278242	202278242	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202278242G>A	ENST00000367278.3	+	15	1433	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	LGR6_ENST00000439764.2_Silent_p.L309L|LGR6_ENST00000255432.7_Silent_p.L396L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	448					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGATGCATCTGAAGCTCAAAG	0.567																																						uc001gxu.2		NaN																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(1342-1344)CTG>CTA		leucine-rich repeat-containing G protein-coupled							124.0	101.0	109.0					1																	202278242		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202278242G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1344G>A	1.37:g.202278242G>A						LGR6_uc001gxv.2_Silent_p.L396L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.L309L	p.L448L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			15	1344	+			448			Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.1344G>A	CCDS30971.1																																																																																				0.567	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1		NM_021636		5	51	0	0	0	1	0	5	51		
LGR6	59352	broad.mit.edu	37	1	202283965	202283965	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202283965G>T	ENST00000367278.3	+	17	1692	c.1603G>T	c.(1603-1605)Gag>Tag	p.E535*	LGR6_ENST00000439764.2_Nonsense_Mutation_p.E396*|LGR6_ENST00000255432.7_Nonsense_Mutation_p.E483*	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	535					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCTGGAGATGGAGGACTCAAA	0.572																																						uc001gxu.2		NaN																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(1603-1605)GAG>TAG		leucine-rich repeat-containing G protein-coupled							105.0	93.0	97.0					1																	202283965		2203	4300	6503	SO:0001587	stop_gained	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202283965G>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1603G>T	1.37:g.202283965G>T	ENSP00000356247:p.Glu535*					LGR6_uc001gxv.2_Nonsense_Mutation_p.E483*|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Nonsense_Mutation_p.E396*	p.E535*	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			17	1603	+			535			Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Nonsense_Mutation	SNP	ENST00000367278.3	37	c.1603G>T	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298288	0.95574	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	.	.	.	5.46	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.0857	0.81045	0.0:0.1344:0.8656:0.0	.	.	.	.	X	535;483;396	.	ENSP00000255432:E483X	E	+	1	0	LGR6	200550588	1.000000	0.71417	0.994000	0.49952	0.377000	0.30045	7.904000	0.87408	1.268000	0.44264	0.644000	0.83932	GAG		0.572	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1		NM_021636		7	30	1	0	0.00198382	1	0.0020207	7	30		
CDK18	5129	broad.mit.edu	37	1	205492313	205492313	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:205492313G>T	ENST00000360066.2	+	2	319	c.18G>T	c.(16-18)atG>atT	p.M6I	CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Missense_Mutation_p.M6I|CDK18_ENST00000506784.1_Missense_Mutation_p.M6I	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	4							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGAACAAGATGAAGAACTTTA	0.517																																					Pancreas(180;489 2072 28461 40831 44265)	uc001hcr.2		NaN																	0				stomach(2)	2						c.(16-18)ATG>ATT		PCTAIRE protein kinase 3 isoform a							81.0	84.0	83.0					1																	205492313		2203	4300	6503	SO:0001583	missense	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205492313G>T	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.18G>T	1.37:g.205492313G>T	ENSP00000353176:p.Met6Ile					CDK18_uc009xbk.1_Intron|CDK18_uc009xbl.1_Intron|CDK18_uc010pri.1_5'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.M6I|CDK18_uc001hcq.2_Missense_Mutation_p.M6I|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'Flank	p.M6I	NM_212503	NP_997668	Q07002	CDK18_HUMAN			2	237	+			4					Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	c.18G>T	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791792	0.70452	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000443813;ENST00000419301	T;T;T;T;T	0.72282	-0.44;-0.64;-0.44;1.24;1.32	4.97	4.97	0.65823	.	0.041017	0.85682	D	0.000000	T	0.70456	0.3226	L	0.60455	1.87	0.58432	D	0.999999	B;B	0.20261	0.043;0.017	B;B	0.27076	0.076;0.025	T	0.70182	-0.4942	10	0.72032	D	0.01	-29.7059	16.966	0.86286	0.0:0.0:1.0:0.0	.	6;6	Q07002-3;Q07002-2	.;.	I	6	ENSP00000399082:M6I;ENSP00000423665:M6I;ENSP00000353176:M6I;ENSP00000397831:M6I;ENSP00000391324:M6I	ENSP00000353176:M6I	M	+	3	0	CDK18	203758936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.912000	0.92726	2.578000	0.87016	0.655000	0.94253	ATG		0.517	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2		NM_002596		8	53	1	0	0.0477658	1	0.0481479	8	53		
CD46	4179	broad.mit.edu	37	1	207940986	207940986	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:207940986G>C	ENST00000358170.2	+	7	1047	c.891G>C	c.(889-891)ttG>ttC	p.L297F	CD46_ENST00000480003.1_Intron|CD46_ENST00000367041.1_Intron|CD46_ENST00000360212.2_Intron|CD46_ENST00000367042.1_Intron|CD46_ENST00000441839.2_Intron|CD46_ENST00000361067.1_Missense_Mutation_p.L297F|CD46_ENST00000322875.4_Missense_Mutation_p.L297F|CD46_ENST00000367047.1_Missense_Mutation_p.L234F|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000357714.1_Intron|CD46_ENST00000354848.1_Intron|CD46_ENST00000322918.5_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	297					adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						CTCCAGCTTTGAGTCATTCAG	0.368																																						uc001hgc.2		NaN																	0				large_intestine(2)|lung(1)|central_nervous_system(1)	4						c.(889-891)TTG>TTC		CD46 antigen, complement regulatory protein							203.0	201.0	201.0					1																	207940986		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207940986G>C	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.891G>C	1.37:g.207940986G>C	ENSP00000350893:p.Leu297Phe					CD46_uc001hgd.2_Intron|CD46_uc001hge.2_Intron|CD46_uc001hgf.2_Intron|CD46_uc001hgg.2_Intron|CD46_uc001hgh.2_Intron|CD46_uc001hgi.2_Intron|CD46_uc001hgj.2_Missense_Mutation_p.L297F|CD46_uc001hgk.2_Missense_Mutation_p.L297F|CD46_uc001hgl.2_Intron|CD46_uc001hgm.2_Intron|CD46_uc001hgn.2_Intron|CD46_uc001hgo.2_Missense_Mutation_p.L297F|CD46_uc001hgp.2_Intron	p.L297F	NM_002389	NP_002380	P15529	MCP_HUMAN			7	1047	+			297			Extracellular (Potential).		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.891G>C	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	G	7.299	0.612680	0.14066	.	.	ENSG00000117335	ENST00000358170;ENST00000322875;ENST00000367047;ENST00000361067	T;T;T;T	0.37752	1.21;1.24;1.19;1.18	4.12	-6.06	0.02165	.	.	.	.	.	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B;B;B;B	0.28233	0.204;0.204;0.204;0.13	B;B;B;B	0.33846	0.171;0.106;0.106;0.049	T	0.35500	-0.9786	9	0.10902	T	0.67	.	7.1482	0.25595	0.3353:0.4818:0.1829:0.0	.	297;297;297;297	P15529-5;P15529-13;P15529-2;P15529	.;.;.;MCP_HUMAN	F	297;297;234;297	ENSP00000350893:L297F;ENSP00000313875:L297F;ENSP00000356014:L234F;ENSP00000354358:L297F	ENSP00000313875:L297F	L	+	3	2	CD46	206007609	0.000000	0.05858	0.000000	0.03702	0.352000	0.29268	-0.493000	0.06459	-1.372000	0.02137	0.591000	0.81541	TTG		0.368	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3		NM_172361		21	102	0	0	0	1	0	21	102		
IRF6	3664	broad.mit.edu	37	1	209964141	209964141	+	Silent	SNP	A	A	G	rs41303263	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:209964141A>G	ENST00000367021.3	-	7	931	c.759T>C	c.(757-759)taT>taC	p.Y253Y	IRF6_ENST00000542854.1_Silent_p.Y158Y	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	253					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCAGGTCCCCATAGAAGAGTC	0.567										HNSCC(57;0.16)			A|||	10	0.00199681	0.0	0.0	5008	,	,		21479	0.004		0.005	False		,,,				2504	0.001					uc001hhq.1		NaN																	0				ovary(2)	2	GRCh37	CM022396	IRF6	M	rs41303263	c.(757-759)TAT>TAC		interferon regulatory factor 6		A	,	6,4400	11.4+/-27.6	0,6,2197	68.0	66.0	67.0		474,759	2.8	1.0	1	dbSNP_127	67	38,8562	25.7+/-73.6	0,38,4262	no	coding-synonymous,coding-synonymous	IRF6	NM_001206696.1,NM_006147.3	,	0,44,6459	GG,GA,AA		0.4419,0.1362,0.3383	,	158/373,253/468	209964141	44,12962	2203	4300	6503	SO:0001819	synonymous_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209964141A>G	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.759T>C	1.37:g.209964141A>G		HNSCC(57;0.16)				IRF6_uc010psm.1_Silent_p.Y158Y|IRF6_uc009xct.1_Silent_p.Y253Y	p.Y253Y	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	1022	-			253					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Silent	SNP	ENST00000367021.3	37	c.759T>C	CCDS1492.1																																																																																				0.567	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1		NM_006147		6	74	0	0	0	1	0	6	74		
TATDN3	128387	broad.mit.edu	37	1	212965324	212965324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:212965324G>C	ENST00000366974.4	+	1	155	c.61G>C	c.(61-63)Gac>Cac	p.D21H	TATDN3_ENST00000526997.1_Missense_Mutation_p.D21H|TATDN3_ENST00000532324.1_Missense_Mutation_p.D21H|TATDN3_ENST00000526641.1_Missense_Mutation_p.D21H|NSL1_ENST00000366976.1_5'Flank|NSL1_ENST00000366977.3_5'Flank|NSL1_ENST00000473995.1_5'Flank|TATDN3_ENST00000531963.1_Missense_Mutation_p.D21H|TATDN3_ENST00000530441.1_Missense_Mutation_p.D21H|NSL1_ENST00000422588.2_5'Flank|NSL1_ENST00000366978.1_5'Flank|TATDN3_ENST00000366973.4_Missense_Mutation_p.D21H|NSL1_ENST00000366975.6_5'Flank	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	21					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CCCGGACTTTGACCGCGTATG	0.657																																						uc001hjo.2		NaN																	0					0						c.(61-63)GAC>CAC		TatD DNase domain containing 3 isoform 1							37.0	42.0	40.0					1																	212965324		2203	4300	6503	SO:0001583	missense	128387					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr1:212965324G>C	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.61G>C	1.37:g.212965324G>C	ENSP00000355941:p.Asp21His					NSL1_uc001hjm.2_5'Flank|NSL1_uc001hjn.2_5'Flank|NSL1_uc010pti.1_5'Flank|TATDN3_uc010ptj.1_Missense_Mutation_p.D21H|TATDN3_uc010ptk.1_Missense_Mutation_p.D21H|TATDN3_uc001hjp.2_Missense_Mutation_p.D21H|TATDN3_uc010ptl.1_Missense_Mutation_p.D21H	p.D21H	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)	1	155	+			21					A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	ENST00000366974.4	37	c.61G>C	CCDS31019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.71|15.71	2.913124|2.913124	0.52439|0.52439	.|.	.|.	ENSG00000203705|ENSG00000203705	ENST00000532324;ENST00000366974;ENST00000530441;ENST00000526641;ENST00000531963;ENST00000366973;ENST00000526997|ENST00000488246	.|.	.|.	.|.	5.11|5.11	4.18|4.18	0.49190|0.49190	.|.	0.185627|.	0.42548|.	D|.	0.000685|.	T|.	0.60637|.	0.2284|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.22800|.	0.057;0.012;0.075;0.029;0.015|.	B;B;B;B;B|.	0.30716|.	0.119;0.039;0.051;0.036;0.032|.	T|.	0.56589|.	-0.7954|.	9|.	0.72032|.	D|.	0.01|.	-18.8393|-18.8393	11.7112|11.7112	0.51626|0.51626	0.0879:0.0:0.9121:0.0|0.0879:0.0:0.9121:0.0	.|.	21;21;21;21;21|.	E9PNH3;G3V151;E9PJE5;Q17R31-2;Q17R31|.	.;.;.;.;TATD3_HUMAN|.	H|S	21|20	.|.	ENSP00000355940:D21H|.	D|X	+|+	1|2	0|2	TATDN3|TATDN3	211031947|211031947	0.946000|0.946000	0.32159|0.32159	1.000000|1.000000	0.80357|0.80357	0.123000|0.123000	0.20343|0.20343	0.911000|0.911000	0.28584|0.28584	2.660000|2.660000	0.90430|0.90430	0.313000|0.313000	0.20887|0.20887	GAC|TGA		0.657	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2		XM_375838		6	18	0	0	0	1	0	6	18		
CENPF	1063	broad.mit.edu	37	1	214813365	214813365	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:214813365G>C	ENST00000366955.3	+	12	1852	c.1684G>C	c.(1684-1686)Gat>Cat	p.D562H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGCTGTGGCTGATCTGGAAAA	0.363																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NaN																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(1684-1686)GAT>CAT		centromere protein F							104.0	115.0	111.0					1																	214813365		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214813365G>C	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1684G>C	1.37:g.214813365G>C	ENSP00000355922:p.Asp562His						p.D562H	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	1858	+			562			Potential.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.1684G>C	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950521	0.53186	.	.	ENSG00000117724	ENST00000366955	T	0.09538	2.97	4.95	4.95	0.65309	.	0.196730	0.24813	N	0.035386	T	0.31765	0.0807	.	.	.	0.41024	D	0.985107	D	0.89917	1.0	D	0.83275	0.996	T	0.02574	-1.1139	9	0.72032	D	0.01	.	12.0035	0.53246	0.0804:0.0:0.9196:0.0	.	562	P49454	CENPF_HUMAN	H	562	ENSP00000355922:D562H	ENSP00000355922:D562H	D	+	1	0	CENPF	212879988	1.000000	0.71417	0.618000	0.29105	0.827000	0.46813	6.466000	0.73543	2.459000	0.83118	0.543000	0.68304	GAT		0.363	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343		39	146	0	0	0	1	0	39	146		
CENPF	1063	broad.mit.edu	37	1	214826227	214826227	+	Silent	SNP	C	C	A	rs528261470		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:214826227C>A	ENST00000366955.3	+	16	8385	c.8217C>A	c.(8215-8217)ctC>ctA	p.L2739L	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2835	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAATGTCTCAGTTCACAGA	0.328																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NaN																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(8215-8217)CTC>CTA		centromere protein F							85.0	88.0	87.0					1																	214826227		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214826227C>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8217C>A	1.37:g.214826227C>A							p.L2739L	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	16	8391	+			2835			Potential.|Sufficient for self-association.|Sufficient for centromere localization.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.8217C>A	CCDS31023.1																																																																																				0.328	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343		17	72	1	0	8.00594e-06	1	8.41325e-06	17	72		
TP53BP2	7159	broad.mit.edu	37	1	223983917	223983917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:223983917G>T	ENST00000343537.7	-	13	2615	c.2324C>A	c.(2323-2325)tCa>tAa	p.S775*	TP53BP2_ENST00000391879.2_Nonsense_Mutation_p.S8*|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Nonsense_Mutation_p.S646*	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	769					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GGATGGGTATGATGGGACAGA	0.478																																						uc010pvb.1		NaN																	0				ovary(2)|lung(1)	3						c.(2323-2325)TCA>TAA		tumor protein p53 binding protein, 2 isoform 1							154.0	161.0	159.0					1																	223983917		2203	4300	6503	SO:0001587	stop_gained	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223983917G>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2324C>A	1.37:g.223983917G>T	ENSP00000341957:p.Ser775*					TP53BP2_uc001hod.2_Nonsense_Mutation_p.S646*|TP53BP2_uc010puz.1_Nonsense_Mutation_p.S8*|TP53BP2_uc010pva.1_Nonsense_Mutation_p.S414*	p.S775*	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2616	-			769					B4DG66|Q12892|Q86X75|Q96KQ3	Nonsense_Mutation	SNP	ENST00000343537.7	37	c.2324C>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	41	8.747928	0.98939	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	.	.	.	5.47	5.47	0.80525	.	0.386217	0.29369	N	0.012357	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	17.5195	0.87783	0.0:0.0:1.0:0.0	.	.	.	.	X	646;775;8	.	ENSP00000341957:S775X	S	-	2	0	TP53BP2	222050540	0.808000	0.29022	0.010000	0.14722	0.994000	0.84299	4.632000	0.61311	2.593000	0.87608	0.655000	0.94253	TCA		0.478	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3		NM_001031685, NM_005426		25	126	1	0	6.12954e-19	1	7.0211e-19	25	126		
TP53BP2	7159	broad.mit.edu	37	1	223983926	223983926	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:223983926G>C	ENST00000343537.7	-	13	2606	c.2315C>G	c.(2314-2316)tCt>tGt	p.S772C	TP53BP2_ENST00000391879.2_Missense_Mutation_p.S5C|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.S643C	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	766					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TGATGGGACAGAGATGGTCTC	0.468																																						uc010pvb.1		NaN																	0				ovary(2)|lung(1)	3						c.(2314-2316)TCT>TGT		tumor protein p53 binding protein, 2 isoform 1							153.0	160.0	158.0					1																	223983926		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223983926G>C	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2315C>G	1.37:g.223983926G>C	ENSP00000341957:p.Ser772Cys					TP53BP2_uc001hod.2_Missense_Mutation_p.S643C|TP53BP2_uc010puz.1_Missense_Mutation_p.S5C|TP53BP2_uc010pva.1_Missense_Mutation_p.S411C	p.S772C	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2607	-			766					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.2315C>G	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822506	0.50739	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.59083	0.66;0.83;0.29	5.68	5.68	0.88126	.	0.097817	0.64402	D	0.000001	T	0.56321	0.1977	L	0.56769	1.78	0.58432	D	0.999999	B;B	0.18461	0.028;0.021	B;B	0.15870	0.009;0.014	T	0.52419	-0.8578	10	0.46703	T	0.11	.	16.7605	0.85510	0.0:0.1287:0.8713:0.0	.	772;766	B4DG66;Q13625	.;ASPP2_HUMAN	C	643;772;5	ENSP00000375750:S643C;ENSP00000341957:S772C;ENSP00000375751:S5C	ENSP00000341957:S772C	S	-	2	0	TP53BP2	222050549	1.000000	0.71417	0.963000	0.40424	0.998000	0.95712	3.671000	0.54576	2.702000	0.92279	0.655000	0.94253	TCT		0.468	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3		NM_001031685, NM_005426		25	115	0	0	0	1	0	25	115		
OBSCN	84033	broad.mit.edu	37	1	228495976	228495976	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:228495976G>T	ENST00000422127.1	+	47	12675	c.12631G>T	c.(12631-12633)Gat>Tat	p.D4211Y	OBSCN_ENST00000366707.4_Missense_Mutation_p.D1845Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D4211Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D1330Y|OBSCN_ENST00000570156.2_Missense_Mutation_p.D5168Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4211	Ig-like 43.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTGTGCGGGATGGCCGCAT	0.632																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(12631-12633)GAT>TAT		obscurin, cytoskeletal calmodulin and							54.0	60.0	58.0					1																	228495976		2149	4239	6388	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228495976G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12631G>T	1.37:g.228495976G>T	ENSP00000409493:p.Asp4211Tyr					OBSCN_uc001hsn.2_Missense_Mutation_p.D4211Y	p.D4211Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			47	12675	+		Prostate(94;0.0405)	4211			Ig-like 43.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.12631G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521923	0.44866	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.94	4.97	0.65823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.588693	0.16846	N	0.197127	T	0.79975	0.4539	M	0.86805	2.84	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.68943	0.961;0.943	T	0.73244	-0.4044	10	0.72032	D	0.01	.	4.8645	0.13602	0.1762:0.191:0.6328:0.0	.	4211;4211	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	4211;4211;1845;1330	ENSP00000284548:D4211Y;ENSP00000409493:D4211Y;ENSP00000355668:D1845Y;ENSP00000355670:D1330Y	ENSP00000284548:D4211Y	D	+	1	0	OBSCN	226562599	0.068000	0.21057	0.009000	0.14445	0.059000	0.15707	2.659000	0.46741	2.817000	0.96982	0.563000	0.77884	GAT		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		13	16	1	0	4.36969e-10	1	4.83815e-10	13	16		
EXOC8	149371	broad.mit.edu	37	1	231472148	231472148	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:231472148G>A	ENST00000360394.2	-	1	1430	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	EXOC8_ENST00000366645.1_Silent_p.I444I|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	448					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I448M(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGGCACCTTCGATGCGAAGCT	0.488																																						uc001huq.2		NaN																	1	Substitution - Missense(1)		cervix(1)	skin(1)	1						c.(1342-1344)ATC>ATT		exocyst complex 84-kDa subunit							55.0	53.0	54.0					1																	231472148		2203	4300	6503	SO:0001819	synonymous_variant	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231472148G>A	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1344C>T	1.37:g.231472148G>A							p.I448I	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN			1	1431	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	448					B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	c.1344C>T	CCDS1593.1																																																																																				0.488	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_175876		15	67	0	0	0	1	0	15	67		
EXOC8	149371	broad.mit.edu	37	1	231473029	231473029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:231473029C>T	ENST00000360394.2	-	1	549	c.463G>A	c.(463-465)Gag>Aag	p.E155K	EXOC8_ENST00000366645.1_Missense_Mutation_p.E151K|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'UTR|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	155					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TTTCCTTCCTCGCCTGGACCG	0.677																																						uc001huq.2		NaN																	0				skin(1)	1						c.(463-465)GAG>AAG		exocyst complex 84-kDa subunit							26.0	29.0	28.0					1																	231473029		2203	4300	6503	SO:0001583	missense	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231473029C>T	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.463G>A	1.37:g.231473029C>T	ENSP00000353564:p.Glu155Lys						p.E155K	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN			1	550	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	155					B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	c.463G>A	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755512	0.69648	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.79141	-1.24;-1.23	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85089	0.5617	L	0.55103	1.725	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.81317	-0.0987	10	0.24483	T	0.36	-20.416	19.5081	0.95127	0.0:1.0:0.0:0.0	.	155	Q8IYI6	EXOC8_HUMAN	K	155;151	ENSP00000353564:E155K;ENSP00000355605:E151K	ENSP00000353564:E155K	E	-	1	0	EXOC8	229539652	1.000000	0.71417	0.998000	0.56505	0.657000	0.38888	7.361000	0.79497	2.601000	0.87937	0.563000	0.77884	GAG		0.677	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_175876		12	19	0	0	0	1	0	12	19		
HEATR1	55127	broad.mit.edu	37	1	236744562	236744562	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:236744562C>T	ENST00000366582.3	-	20	2829	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	HEATR1_ENST00000366581.2_Silent_p.K905K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	905					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TACACTGTGTCTTCTGAGAAG	0.408																																						uc001hyd.1		NaN																	0				ovary(2)|skin(1)	3						c.(2713-2715)AAG>AAA		protein BAP28							157.0	149.0	152.0					1																	236744562		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236744562C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2715G>A	1.37:g.236744562C>T						HEATR1_uc009xgh.1_Silent_p.K148K	p.K905K	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		20	2840	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	905					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.2715G>A	CCDS31066.1																																																																																				0.408	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1		XM_375853		25	107	0	0	0	1	0	25	107		
RYR2	6262	broad.mit.edu	37	1	237872849	237872849	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:237872849C>T	ENST00000366574.2	+	70	10529	c.10212C>T	c.(10210-10212)atC>atT	p.I3404I	RYR2_ENST00000542537.1_Silent_p.I3388I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.I3402I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3404					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGTGTTTATCTACTGGTCGA	0.453																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10210-10212)ATC>ATT		cardiac muscle ryanodine receptor							97.0	96.0	96.0					1																	237872849		1951	4149	6100	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237872849C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10212C>T	1.37:g.237872849C>T						RYR2_uc010pxz.1_Silent_p.I359I	p.I3404I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		70	10332	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3404					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.10212C>T	CCDS55691.1																																																																																				0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		5	13	0	0	0	1	0	5	13		
AKR1E2	83592	broad.mit.edu	37	10	4877927	4877927	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:4877927C>G	ENST00000298375.7	+	4	456	c.385C>G	c.(385-387)Cga>Gga	p.R129G	AKR1E2_ENST00000532248.1_Missense_Mutation_p.R129G|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.R129G|AKR1E2_ENST00000334019.4_Missense_Mutation_p.R129G	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	129						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)	p.R129*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTCACATCCTCGAGTGCAGGA	0.527																																					NSCLC(43;343 1097 20371 28813 45509)	uc001ihi.2		NaN																	1	Substitution - Nonsense(1)		large_intestine(1)		0						c.(385-387)CGA>GGA		aldo-keto reductase family 1, member E2							117.0	89.0	99.0					10																	4877927		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4877927C>G	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.385C>G	10.37:g.4877927C>G	ENSP00000298375:p.Arg129Gly					AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Missense_Mutation_p.R90G|AKR1E2_uc001ihh.1_Missense_Mutation_p.R129G|AKR1E2_uc009xhw.2_Missense_Mutation_p.R129G|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.R129G	p.R129G	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN			4	500	+			129					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.385C>G	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	c	9.423	1.083580	0.20309	.	.	ENSG00000165568	ENST00000462718;ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.31510	2.1;1.49;1.79;1.93;2.42	4.12	2.29	0.28610	NADP-dependent oxidoreductase domain (3);	0.054940	0.64402	N	0.000001	T	0.04182	0.0116	N	0.00055	-2.375	0.21579	N	0.999634	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0	T	0.41893	-0.9483	10	0.02654	T	1	.	6.141	0.20259	0.1016:0.1905:0.708:0.0	.	90;129;129;129;129	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	G	25;133;129;129;129;129	ENSP00000435436:R133G;ENSP00000298375:R129G;ENSP00000432947:R129G;ENSP00000335034:R129G;ENSP00000335603:R129G	ENSP00000298375:R129G	R	+	1	2	AKR1E2	4867927	1.000000	0.71417	0.093000	0.20910	0.011000	0.07611	3.968000	0.56809	0.705000	0.31890	-0.949000	0.02662	CGA		0.527	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4		NM_031436		18	59	0	0	0	1	0	18	59		
PRKCQ	5588	broad.mit.edu	37	10	6540507	6540507	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:6540507C>A	ENST00000263125.5	-	5	492	c.393G>T	c.(391-393)atG>atT	p.M131I	PRKCQ_ENST00000539722.1_Missense_Mutation_p.M6I|PRKCQ_ENST00000397176.2_Missense_Mutation_p.M131I	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	131					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CAAATTCATTCATGTCCTTTG	0.527																																					Ovarian(50;572 1126 10530 25349 30594)	uc001ijj.1		NaN																	0				ovary(3)|lung(2)|large_intestine(1)	6						c.(391-393)ATG>ATT		protein kinase C, theta							135.0	117.0	123.0					10																	6540507		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6540507C>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.393G>T	10.37:g.6540507C>A	ENSP00000263125:p.Met131Ile					PRKCQ_uc009xim.1_Missense_Mutation_p.M131I|PRKCQ_uc001iji.1_Missense_Mutation_p.M164I|PRKCQ_uc009xin.1_Missense_Mutation_p.M95I|PRKCQ_uc010qax.1_Missense_Mutation_p.M6I	p.M131I	NM_006257	NP_006248	Q04759	KPCT_HUMAN			5	468	-			131					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.393G>T	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	C	2.635	-0.285418	0.05605	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.67171	-0.25;-0.2;-0.23	5.62	3.41	0.39046	.	0.828435	0.11274	N	0.581179	T	0.46600	0.1401	N	0.14661	0.345	0.26443	N	0.975735	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30909	-0.9962	10	0.35671	T	0.21	.	6.9494	0.24536	0.1373:0.6492:0.0:0.2135	.	6;131;131	B4DF52;Q04759-2;Q04759	.;.;KPCT_HUMAN	I	131;131;6	ENSP00000263125:M131I;ENSP00000380361:M131I;ENSP00000441752:M6I	ENSP00000263125:M131I	M	-	3	0	PRKCQ	6580513	0.011000	0.17503	0.998000	0.56505	0.181000	0.23173	0.688000	0.25422	1.341000	0.45600	0.655000	0.94253	ATG		0.527	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1		NM_006257		18	30	1	0	3.52763e-06	1	3.72263e-06	18	30		
BEND7	222389	broad.mit.edu	37	10	13534731	13534731	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:13534731C>G	ENST00000396900.2	-	5	716	c.717G>C	c.(715-717)gaG>gaC	p.E239D	BEND7_ENST00000378605.3_Missense_Mutation_p.E200D|BEND7_ENST00000341083.3_Missense_Mutation_p.E187D|BEND7_ENST00000396898.2_Missense_Mutation_p.E252D			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	239						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TTTTCTCCATCTCTGACCCAC	0.532																																						uc001imm.2		NaN																	0				ovary(1)|breast(1)	2						c.(559-561)GAG>GAC		BEN domain containing 7 isoform 1							113.0	118.0	116.0					10																	13534731		2203	4300	6503	SO:0001583	missense	222389						protein binding	g.chr10:13534731C>G	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.717G>C	10.37:g.13534731C>G	ENSP00000380108:p.Glu239Asp					BEND7_uc001imo.3_Missense_Mutation_p.E200D	p.E187D	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN			5	858	-			239					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37	c.561G>C		.	.	.	.	.	.	.	.	.	.	C	5.600	0.295486	0.10622	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.50001	0.76;0.76;0.79;0.8	5.57	-3.22	0.05125	.	0.390644	0.30510	N	0.009472	T	0.37571	0.1008	L	0.59436	1.845	0.09310	N	0.999997	B;B	0.27559	0.022;0.181	B;B	0.26864	0.011;0.074	T	0.37502	-0.9703	10	0.56958	D	0.05	-13.3523	9.6942	0.40147	0.0:0.5737:0.2624:0.1638	.	252;187	E5RFC0;Q8N7W2-3	.;.	D	239;187;252;200	ENSP00000380108:E239D;ENSP00000345773:E187D;ENSP00000380107:E252D;ENSP00000367868:E200D	ENSP00000345773:E187D	E	-	3	2	BEND7	13574737	0.059000	0.20769	0.000000	0.03702	0.002000	0.02628	0.167000	0.16602	-0.370000	0.08016	-0.806000	0.03193	GAG		0.532	BEND7-202	KNOWN	basic	protein_coding	protein_coding			NM_152751		24	186	0	0	0	1	0	24	186		
CACNB2	783	broad.mit.edu	37	10	18690931	18690931	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:18690931G>C	ENST00000324631.7	+	3	352	c.292G>C	c.(292-294)Gaa>Caa	p.E98Q	CACNB2_ENST00000377319.3_Missense_Mutation_p.E43Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.E50Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.E98Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.E70Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.E44Q|CACNB2_ENST00000377328.1_Missense_Mutation_p.E98Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.E70Q|CACNB2_ENST00000396576.2_Missense_Mutation_p.E43Q	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	98					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTGCGCAGAGAAGCGGAGCG	0.542																																						uc001ipr.2		NaN																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(292-294)GAA>CAA		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						73.0	63.0	66.0					10																	18690931		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18690931G>C	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.292G>C	10.37:g.18690931G>C	ENSP00000320025:p.Glu98Gln					CACNB2_uc009xjz.1_Missense_Mutation_p.E98Q|CACNB2_uc001ips.2_Missense_Mutation_p.E98Q|CACNB2_uc001ipt.2_Missense_Mutation_p.E98Q|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.E70Q|CACNB2_uc001ipv.2_Missense_Mutation_p.E70Q|CACNB2_uc009xka.1_Missense_Mutation_p.E70Q|CACNB2_uc001ipw.2_Missense_Mutation_p.E43Q|CACNB2_uc001ipx.2_Missense_Mutation_p.E43Q|CACNB2_uc009xkb.1_Missense_Mutation_p.E44Q|CACNB2_uc010qcm.1_Missense_Mutation_p.E44Q|CACNB2_uc001ipz.2_Missense_Mutation_p.E44Q|CACNB2_uc001ipy.2_Missense_Mutation_p.E44Q|CACNB2_uc010qcn.1_Missense_Mutation_p.E50Q|CACNB2_uc010qco.1_Missense_Mutation_p.E50Q|CACNB2_uc001iqa.2_Missense_Mutation_p.E50Q	p.E98Q	NM_201596	NP_963890	Q08289	CACB2_HUMAN			3	352	+			98					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.292G>C	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297156	0.81025	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83250	-1.7;1.96;-1.7;-1.7;1.96;-1.7;-1.7;-1.7;-1.7	5.87	5.87	0.94306	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	M	0.85041	2.73	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;0.996;0.99;0.996;1.0;0.996;1.0;0.995;0.999;0.999;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.992;0.995;0.968;0.995;0.998;0.993;0.998;0.991;0.969;0.995;0.999;0.996;0.996;0.999;0.998	D	0.92107	0.5693	10	0.59425	D	0.04	-28.6582	20.5827	0.99408	0.0:0.0:1.0:0.0	.	50;50;44;44;70;98;50;44;44;54;43;70;70;98;98;98	B7Z1U5;B7Z2U3;Q5QJ99;Q6TME0;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	Q	98;98;98;70;70;43;43;44;50	ENSP00000320025:E98Q;ENSP00000344474:E98Q;ENSP00000366545:E98Q;ENSP00000282343:E70Q;ENSP00000366548:E70Q;ENSP00000379821:E43Q;ENSP00000366536:E43Q;ENSP00000366546:E44Q;ENSP00000366532:E50Q	ENSP00000282343:E70Q	E	+	1	0	CACNB2	18730937	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.767000	0.98960	2.941000	0.99782	0.655000	0.94253	GAA		0.542	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2		NM_000724		6	71	0	0	0	1	0	6	71		
ANKRD26	22852	broad.mit.edu	37	10	27318254	27318254	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:27318254G>C	ENST00000376087.4	-	26	4004	c.3839C>G	c.(3838-3840)gCt>gGt	p.A1280G	ANKRD26_ENST00000376070.3_Missense_Mutation_p.A837G|ANKRD26_ENST00000436985.2_Missense_Mutation_p.A1296G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1279					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACATCTGACAGCTTCTGTATG	0.338																																						uc001ith.2		NaN																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(3835-3837)GCT>GGT		ankyrin repeat domain 26							146.0	119.0	127.0					10																	27318254		1849	4110	5959	SO:0001583	missense	22852					centrosome		g.chr10:27318254G>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3839C>G	10.37:g.27318254G>C	ENSP00000365255:p.Ala1280Gly					ANKRD26_uc001itg.2_Missense_Mutation_p.A966G|ANKRD26_uc009xku.1_Missense_Mutation_p.A1280G	p.A1279G	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			26	4008	-			1279			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3836C>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797186	0.50208	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.80824	-1.42;-1.42;-1.42	5.22	-0.557	0.11800	.	0.960694	0.08523	N	0.933220	T	0.78323	0.4265	L	0.59436	1.845	0.09310	N	1	P;P;D	0.57257	0.728;0.608;0.979	B;B;P	0.49387	0.425;0.244;0.609	T	0.66372	-0.5940	10	0.62326	D	0.03	.	3.7804	0.08679	0.2677:0.0:0.4491:0.2833	.	1280;1279;1296	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	G	837;1280;1296	ENSP00000365238:A837G;ENSP00000365255:A1280G;ENSP00000405112:A1296G	ENSP00000365238:A837G	A	-	2	0	ANKRD26	27358260	0.041000	0.20044	0.000000	0.03702	0.246000	0.25737	2.049000	0.41288	-0.006000	0.14370	0.543000	0.68304	GCT		0.338	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1				10	27	0	0	0	1	0	10	27		
SYT15	83849	broad.mit.edu	37	10	46963916	46963916	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:46963916G>A	ENST00000374321.4	-	7	1113	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Silent_p.F402F|SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000503753.1_Silent_p.F349F|SYT15_ENST00000374325.3_Silent_p.F349F	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	349	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCTTGAAGCTGAAGGTCTCAT	0.532																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.2		NaN																	0					0						c.(1045-1047)TTC>TTT		synaptotagmin XV isoform a							126.0	127.0	127.0					10																	46963916		2109	4236	6345	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46963916G>A	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1047C>T	10.37:g.46963916G>A						SYT15_uc001jdz.2_Silent_p.F349F|SYT15_uc001jeb.2_Silent_p.F227F|SYT15_uc010qfp.1_RNA	p.F349F	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			7	1200	-			349			Cytoplasmic (Potential).|C2 2.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.1047C>T	CCDS44376.1																																																																																				0.532	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1		NM_031912		6	48	0	0	0	1	0	6	48		
GDF10	2662	broad.mit.edu	37	10	48429210	48429210	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:48429210C>A	ENST00000224605.2	-	2	941	c.676G>T	c.(676-678)Gat>Tat	p.D226Y		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	226					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TCCTCAGAATCCAGCTGGGCG	0.697																																						uc001jfb.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(676-678)GAT>TAT		growth differentiation factor 10 precursor							10.0	15.0	14.0					10																	48429210		2167	4284	6451	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429210C>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.676G>T	10.37:g.48429210C>A	ENSP00000224605:p.Asp226Tyr					GDF10_uc009xnp.2_Missense_Mutation_p.D225Y|GDF10_uc009xnq.1_Missense_Mutation_p.D226Y	p.D226Y	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	1132	-			226					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.676G>T	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744467	0.69418	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.77489	-1.1	5.44	5.44	0.79542	.	0.148439	0.64402	D	0.000015	D	0.85048	0.5608	M	0.68952	2.095	0.58432	D	0.999995	D;D	0.89917	0.994;1.0	P;D	0.72075	0.733;0.976	D	0.84234	0.0468	10	0.41790	T	0.15	.	11.6835	0.51472	0.0:0.9194:0.0:0.0806	.	36;226	Q8N6T2;P55107	.;BMP3B_HUMAN	Y	36;226	ENSP00000224605:D226Y	ENSP00000224605:D226Y	D	-	1	0	GDF10	48049216	0.998000	0.40836	0.988000	0.46212	0.729000	0.41735	3.886000	0.56190	2.568000	0.86640	0.555000	0.69702	GAT		0.697	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1		NM_004962		3	12	1	0	1	1	1	3	12		
JMJD1C	221037	broad.mit.edu	37	10	64937590	64937590	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:64937590C>T	ENST00000399262.2	-	23	7329	c.7111G>A	c.(7111-7113)Gat>Aat	p.D2371N	JMJD1C_ENST00000402544.1_Missense_Mutation_p.D2134N|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D2189N|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2371	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCATCCAAATCTTCTTCCTCA	0.363																																						uc001jmn.2		NaN																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(7111-7113)GAT>AAT		jumonji domain containing 1C isoform a							122.0	112.0	115.0					10																	64937590		1835	4082	5917	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64937590C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7111G>A	10.37:g.64937590C>T	ENSP00000382204:p.Asp2371Asn					JMJD1C_uc001jml.2_Missense_Mutation_p.D2134N|JMJD1C_uc001jmm.2_Missense_Mutation_p.D2083N|JMJD1C_uc010qiq.1_Missense_Mutation_p.D2189N|JMJD1C_uc009xpi.2_Missense_Mutation_p.D2189N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmk.2_5'Flank|JMJD1C_uc001jmo.2_Missense_Mutation_p.D278N	p.D2371N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			23	7411	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2371			JmjC.		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.7111G>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346830	0.95807	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.58652	0.65;0.32;0.66	6.05	6.05	0.98169	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.094683	0.64402	D	0.000001	T	0.69178	0.3082	M	0.71036	2.16	0.80722	D	1	P;P;B	0.52577	0.954;0.954;0.302	P;P;B	0.50136	0.511;0.632;0.174	T	0.70753	-0.4786	10	0.62326	D	0.03	-15.387	20.1963	0.98243	0.0:1.0:0.0:0.0	.	2189;2371;2189	B7ZLC8;Q15652;A0T124	.;JHD2C_HUMAN;.	N	2371;2134;2189	ENSP00000382204:D2371N;ENSP00000384990:D2134N;ENSP00000444682:D2189N	ENSP00000382204:D2371N	D	-	1	0	JMJD1C	64607596	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.426000	0.80270	2.878000	0.98634	0.650000	0.86243	GAT		0.363	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241		5	16	0	0	0	1	0	5	16		
SIRT1	23411	broad.mit.edu	37	10	69672284	69672284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:69672284C>T	ENST00000212015.6	+	8	1464	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y	SIRT1_ENST00000403579.1_Missense_Mutation_p.H168Y|SIRT1_ENST00000432464.1_Missense_Mutation_p.H176Y|SIRT1_ENST00000406900.1_Missense_Mutation_p.H168Y	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	471	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ACCTTTGCCTCATCTGCATTT	0.378																																						uc001jnd.2		NaN																	0					0						c.(1411-1413)CAT>TAT		sirtuin 1 isoform a							110.0	111.0	111.0					10																	69672284		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69672284C>T	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1411C>T	10.37:g.69672284C>T	ENSP00000212015:p.His471Tyr					SIRT1_uc010qis.1_Missense_Mutation_p.H176Y|SIRT1_uc009xpp.2_Missense_Mutation_p.H279Y|SIRT1_uc001jne.2_Missense_Mutation_p.H168Y	p.H471Y	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN			8	1464	+			471			Deacetylase sirtuin-type.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.1411C>T	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704371	0.88924	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.92	5.92	0.95590	.	0.049524	0.85682	D	0.000000	T	0.28300	0.0699	L	0.48986	1.54	0.80722	D	1	P;P	0.42010	0.705;0.768	P;P	0.46452	0.464;0.517	T	0.00286	-1.1847	10	0.62326	D	0.03	-15.8033	19.9317	0.97122	0.0:1.0:0.0:0.0	.	168;471	B0QZ35;Q96EB6	.;SIRT1_HUMAN	Y	471;176;168;168	ENSP00000212015:H471Y;ENSP00000409208:H176Y;ENSP00000384508:H168Y;ENSP00000384063:H168Y	ENSP00000212015:H471Y	H	+	1	0	SIRT1	69342290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.810000	0.96702	0.650000	0.86243	CAT		0.378	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1				30	33	0	0	0	1	0	30	33		
DDX50	79009	broad.mit.edu	37	10	70670973	70670973	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:70670973G>C	ENST00000373585.3	+	4	717	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	204	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAGAAATCAAGAAACAATTAA	0.368																																						uc001jou.2		NaN																	0				ovary(1)	1						c.(610-612)GAA>CAA		nucleolar protein GU2							82.0	88.0	86.0					10																	70670973		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70670973G>C	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.610G>C	10.37:g.70670973G>C	ENSP00000362687:p.Glu204Gln					DDX50_uc001jot.2_Missense_Mutation_p.E204Q|DDX50_uc010qjc.1_Missense_Mutation_p.E204Q	p.E204Q	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN			4	717	+			204			Helicase ATP-binding.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.610G>C	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	6.176	0.400597	0.11696	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.15487	2.42	5.31	5.31	0.75309	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.383806	0.31734	N	0.007159	T	0.12220	0.0297	L	0.27944	0.81	0.32954	D	0.520171	B;B	0.25904	0.137;0.025	B;B	0.30401	0.115;0.023	T	0.05920	-1.0856	10	0.06236	T	0.91	-14.9823	14.0128	0.64507	0.0:0.2709:0.7291:0.0	.	204;204	Q9BQ39;B4DED6	DDX50_HUMAN;.	Q	204	ENSP00000362687:E204Q	ENSP00000362687:E204Q	E	+	1	0	DDX50	70340979	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.252000	0.58785	2.645000	0.89757	0.556000	0.70494	GAA		0.368	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1		NM_024045		17	83	0	0	0	1	0	17	83		
PPP3CB	5532	broad.mit.edu	37	10	75239090	75239090	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:75239090C>G	ENST00000360663.5	-	2	382	c.271G>C	c.(271-273)Gaa>Caa	p.E91Q	PPP3CB_ENST00000545874.1_Missense_Mutation_p.E5Q|PPP3CB_ENST00000394828.2_Missense_Mutation_p.E91Q|PPP3CB_ENST00000342558.3_Missense_Mutation_p.E91Q|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E91Q|PPP3CB_ENST00000394822.2_Missense_Mutation_p.E91Q			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	91	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					ATTGGAGCTTCTACTTCTATC	0.368																																						uc001jue.2		NaN																	0				skin(1)	1						c.(271-273)GAA>CAA		protein phosphatase 3, catalytic subunit, beta							194.0	188.0	190.0					10																	75239090		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75239090C>G	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.271G>C	10.37:g.75239090C>G	ENSP00000353881:p.Glu91Gln					PPP3CB_uc001juf.2_Missense_Mutation_p.E91Q|PPP3CB_uc001jug.2_Missense_Mutation_p.E91Q|PPP3CB_uc001jui.2_Missense_Mutation_p.E91Q|PPP3CB_uc001juh.2_Missense_Mutation_p.E5Q	p.E91Q	NM_021132	NP_066955	P16298	PP2BB_HUMAN			2	406	-	Prostate(51;0.0119)		91			Catalytic.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.271G>C	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558433	0.65538	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000545874;ENST00000394822	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;3.41;-0.03	5.72	5.72	0.89469	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000008	T	0.66829	0.2829	M	0.79123	2.44	0.80722	D	1	B;B;B;B;B	0.34103	0.033;0.013;0.233;0.437;0.059	B;B;B;B;B	0.35550	0.049;0.041;0.041;0.205;0.027	T	0.64499	-0.6393	10	0.26408	T	0.33	.	19.8965	0.96963	0.0:1.0:0.0:0.0	.	91;5;91;91;91	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	Q	91;91;91;91;5;91	ENSP00000353881:E91Q;ENSP00000378306:E91Q;ENSP00000378305:E91Q;ENSP00000343147:E91Q;ENSP00000439876:E5Q;ENSP00000378299:E91Q	ENSP00000343147:E91Q	E	-	1	0	PPP3CB	74909096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.717000	0.92951	0.655000	0.94253	GAA		0.368	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1		NM_021132		40	134	0	0	0	1	0	40	134		
POLR3A	11128	broad.mit.edu	37	10	79781696	79781696	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:79781696C>G	ENST00000372371.3	-	7	1107	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	324					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCGAGAGCTCACTGTTAATG	0.542																																						uc001jzn.2		NaN																	0					0						c.(970-972)GAG>CAG		polymerase (RNA) III (DNA directed) polypeptide							81.0	75.0	77.0					10																	79781696		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79781696C>G	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.970G>C	10.37:g.79781696C>G	ENSP00000361446:p.Glu324Gln						p.E324Q	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		7	1064	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		324					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.970G>C	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645512	0.67358	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.69306	-0.39	5.72	5.72	0.89469	RNA polymerase, N-terminal (1);RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	M	0.80847	2.515	0.80722	D	1	B	0.30563	0.285	B	0.29176	0.099	T	0.68577	-0.5372	9	.	.	.	-38.6788	19.877	0.96880	0.0:1.0:0.0:0.0	.	324	O14802	RPC1_HUMAN	Q	324	ENSP00000361446:E324Q	.	E	-	1	0	POLR3A	79451702	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.479000	0.81095	2.696000	0.92011	0.650000	0.86243	GAG		0.542	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1		NM_007055		5	47	0	0	0	1	0	5	47		
LIPJ	142910	broad.mit.edu	37	10	90356673	90356673	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:90356673G>T	ENST00000371939.3	+	8	1017	c.703G>T	c.(703-705)Gac>Tac	p.D235Y		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	235					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GTTTGGATATGACCCAAAAAA	0.274																																						uc001kff.2		NaN																	0				ovary(1)	1						c.(703-705)GAC>TAC		lipase, family member J							55.0	63.0	60.0					10																	90356673		2203	4293	6496	SO:0001583	missense	142910				lipid catabolic process		hydrolase activity	g.chr10:90356673G>T	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.703G>T	10.37:g.90356673G>T	ENSP00000361007:p.Asp235Tyr						p.D235Y	NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)	8	1017	+		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)	235					A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	c.703G>T	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132856	0.37630	.	.	ENSG00000204022	ENST00000371939	T	0.62105	0.05	4.12	2.14	0.27477	Alpha/beta hydrolase fold-1 (1);	0.462954	0.18016	N	0.154401	T	0.79621	0.4477	M	0.93462	3.42	0.36198	D	0.850533	D	0.89917	1.0	D	0.79108	0.992	T	0.78986	-0.1987	10	0.87932	D	0	-1.9552	3.6462	0.08186	0.2959:0.1934:0.5107:0.0	.	235	Q5W064	LIPJ_HUMAN	Y	235	ENSP00000361007:D235Y	ENSP00000361007:D235Y	D	+	1	0	LIPJ	90346653	0.989000	0.36119	0.105000	0.21289	0.024000	0.10985	1.434000	0.34958	0.449000	0.26747	0.585000	0.79938	GAC		0.274	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2		XM_084377		17	81	1	0	1.15088e-07	1	1.23835e-07	17	81		
PANK1	53354	broad.mit.edu	37	10	91353615	91353615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:91353615C>T	ENST00000307534.4	-	4	1597	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	PANK1_ENST00000342512.3_Missense_Mutation_p.G256E|PANK1_ENST00000322191.6_Intron|MIR107_ENST00000362127.1_RNA|PANK1_ENST00000371774.2_Missense_Mutation_p.G283E	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	481					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TTCATAGTCTCCTCCGTAAAT	0.463																																						uc001kgp.1		NaN																	0					0						c.(1441-1443)GGA>GAA		pantothenate kinase 1 isoform alpha	Bezafibrate(DB01393)						231.0	198.0	209.0					10																	91353615		2203	4300	6503	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91353615C>T	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1442G>A	10.37:g.91353615C>T	ENSP00000302108:p.Gly481Glu					PANK1_uc001kgn.1_Missense_Mutation_p.G256E|PANK1_uc001kgo.1_Intron|PANK1_uc009xtu.1_Missense_Mutation_p.G283E|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	p.G481E	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN			4	1598	-			481					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.1442G>A	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840764	0.91197	.	.	ENSG00000152782	ENST00000342512;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D	0.99507	-6.04;-6.04;-6.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.976;0.999;0.976	D	0.98942	1.0791	10	0.54805	T	0.06	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	283;481;256	Q8TE04-4;Q8TE04;Q8TE04-2	.;PANK1_HUMAN;.	E	256;283;481;344	ENSP00000345118:G256E;ENSP00000360839:G283E;ENSP00000302108:G481E	ENSP00000302108:G481E	G	-	2	0	PANK1	91343595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.941000	0.99782	0.655000	0.94253	GGA		0.463	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding					72	159	0	0	0	1	0	72	159		
CEP55	55165	broad.mit.edu	37	10	95266787	95266787	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:95266787C>G	ENST00000371485.3	+	4	806	c.502C>G	c.(502-504)Cat>Gat	p.H168D		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	168	Interaction with PDCD6IP.|Interaction with TSG101.				establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAATAATATTCATGAAATGGA	0.318																																						uc009xug.2		NaN																	0					0						c.(502-504)CAT>GAT		centrosomal protein 55kDa							114.0	114.0	114.0					10																	95266787		2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95266787C>G	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.502C>G	10.37:g.95266787C>G	ENSP00000360540:p.His168Asp					CEP55_uc001kiq.3_Missense_Mutation_p.H168D	p.H168D	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN			4	684	+		Colorectal(252;0.207)	168			Interaction with PDCD6IP.|Potential.|Interaction with TSG101.		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.502C>G	CCDS7428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.988|3.988	-0.005028|-0.005028	0.07773|0.07773	.|.	.|.	ENSG00000138180|ENSG00000138180	ENST00000445435|ENST00000371485;ENST00000358339	.|T	.|0.18016	.|2.24	5.5|5.5	3.53|3.53	0.40419|0.40419	.|.	.|0.637368	.|0.16668	.|N	.|0.204478	T|T	0.13286|0.13286	0.0322|0.0322	L|L	0.54323|0.54323	1.7|1.7	0.26055|0.26055	N|N	0.981432|0.981432	.|B	.|0.26672	.|0.156	.|B	.|0.16722	.|0.016	T|T	0.15665|0.15665	-1.0429|-1.0429	5|10	.|0.27082	.|T	.|0.32	-11.8931|-11.8931	4.1294|4.1294	0.10143|0.10143	0.2001:0.5859:0.1297:0.0844|0.2001:0.5859:0.1297:0.0844	.|.	.|168	.|Q53EZ4	.|CEP55_HUMAN	L|D	7|168	.|ENSP00000360540:H168D	.|ENSP00000351102:H168D	F|H	+|+	3|1	2|0	CEP55|CEP55	95256777|95256777	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	1.046000|1.046000	0.30354|0.30354	1.451000|1.451000	0.47736|0.47736	0.650000|0.650000	0.86243|0.86243	TTC|CAT		0.318	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1		NM_018131		13	46	0	0	0	1	0	13	46		
RRP12	23223	broad.mit.edu	37	10	99125901	99125901	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:99125901C>T	ENST00000370992.4	-	29	3592	c.3481G>A	c.(3481-3483)Gac>Aac	p.D1161N	RRP12_ENST00000315563.6_Missense_Mutation_p.D1061N|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.D1100N|RRP12_ENST00000536831.1_Missense_Mutation_p.D879N	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1161						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTGTTGCCGTCTGCCTCCTCC	0.597																																						uc001knf.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3481-3483)GAC>AAC		ribosomal RNA processing 12 homolog isoform 1							199.0	151.0	167.0					10																	99125901		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99125901C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3481G>A	10.37:g.99125901C>T	ENSP00000360031:p.Asp1161Asn					RRP12_uc001kne.2_Missense_Mutation_p.D176N|RRP12_uc009xvl.2_Missense_Mutation_p.D278N|RRP12_uc009xvm.2_Missense_Mutation_p.D879N|RRP12_uc010qou.1_Missense_Mutation_p.D1100N|RRP12_uc009xvn.2_Missense_Mutation_p.D1061N	p.D1161N	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	29	3620	-		Colorectal(252;0.162)	1161					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.3481G>A	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412637	0.62511	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.36699	1.26;1.27;1.27;1.24	5.47	5.47	0.80525	.	0.356159	0.34628	N	0.003807	T	0.35248	0.0925	L	0.54323	1.7	0.35859	D	0.82733	B;B;P;B	0.36282	0.215;0.02;0.546;0.07	B;B;B;B	0.32583	0.064;0.027;0.148;0.031	T	0.45585	-0.9251	10	0.38643	T	0.18	-5.2879	17.1009	0.86649	0.0:1.0:0.0:0.0	.	1100;1061;879;1161	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	N	1161;1061;1100;879	ENSP00000360031:D1161N;ENSP00000324315:D1061N;ENSP00000414863:D1100N;ENSP00000446184:D879N	ENSP00000324315:D1061N	D	-	1	0	RRP12	99115891	1.000000	0.71417	0.013000	0.15412	0.099000	0.18886	7.318000	0.79029	2.563000	0.86464	0.555000	0.69702	GAC		0.597	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4		NM_015179		27	74	0	0	0	1	0	27	74		
BLOC1S2	282991	broad.mit.edu	37	10	102045915	102045915	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:102045915G>A	ENST00000370372.2	-	2	163	c.111C>T	c.(109-111)atC>atT	p.I37I	BLOC1S2_ENST00000361832.2_5'UTR|BLOC1S2_ENST00000441611.1_5'UTR	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	37					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|melanosome organization (GO:0032438)|microtubule nucleation (GO:0007020)|mitochondrial outer membrane permeabilization (GO:0097345)|neuron projection development (GO:0031175)|platelet dense granule organization (GO:0060155)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	BLOC-1 complex (GO:0031083)|centrosome (GO:0005813)|gamma-tubulin complex (GO:0000930)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	gamma-tubulin binding (GO:0043015)|protein C-terminus binding (GO:0008022)			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		AGAGCTCAGTGATGTCAGCTT	0.602																																						uc001kqw.1		NaN																	0				ovary(1)	1						c.(109-111)ATC>ATT		biogenesis of lysosome-related organelles							112.0	97.0	102.0					10																	102045915		2203	4300	6503	SO:0001819	synonymous_variant	282991				melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding	g.chr10:102045915G>A	AK054697	CCDS7490.1, CCDS73179.1	10q24.31	2012-08-01	2008-08-11		ENSG00000196072	ENSG00000196072		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20984	protein-coding gene	gene with protein product	"""centrosome protein oncogene"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 2"", ""BLOC-1 subunit 2"""	609768				11483580, 15102850	Standard	NM_173809		Approved	MGC10120, FLJ30135, BLOS2	uc001kqw.2	Q6QNY1	OTTHUMG00000018908	ENST00000370372.2:c.111C>T	10.37:g.102045915G>A						BLOC1S2_uc001kqv.1_5'UTR	p.I37I	NM_173809	NP_776170	Q6QNY1	BL1S2_HUMAN		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)	2	134	-		Colorectal(252;0.117)	37					B4DQV2|Q5W040|Q8WUI8	Silent	SNP	ENST00000370372.2	37	c.111C>T	CCDS7490.1																																																																																				0.602	BLOC1S2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049861.2		NM_173809		17	62	0	0	0	1	0	17	62		
GBF1	8729	broad.mit.edu	37	10	104129979	104129979	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:104129979G>C	ENST00000369983.3	+	27	3645	c.3385G>C	c.(3385-3387)Gag>Cag	p.E1129Q		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1129					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTCCAGCTGGAGTCACTACA	0.463																																						uc001kux.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3385-3387)GAG>CAG		golgi-specific brefeldin A resistant guanine							146.0	162.0	156.0					10																	104129979		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104129979G>C	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3385G>C	10.37:g.104129979G>C	ENSP00000359000:p.Glu1129Gln					GBF1_uc001kuy.1_Missense_Mutation_p.E1129Q|GBF1_uc001kuz.1_Missense_Mutation_p.E1130Q	p.E1129Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	27	3625	+		Colorectal(252;0.0236)	1129					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.3385G>C	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496199	0.85069	.	.	ENSG00000107862	ENST00000369983	T	0.13196	2.61	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.993	D;D;D	0.72982	0.939;0.964;0.979	T	0.12604	-1.0541	10	0.54805	T	0.06	-19.4407	19.5125	0.95148	0.0:0.0:1.0:0.0	.	1129;1129;1129	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Q	1129	ENSP00000359000:E1129Q	ENSP00000359000:E1129Q	E	+	1	0	GBF1	104119969	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.657000	0.98554	2.840000	0.97914	0.655000	0.94253	GAG		0.463	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1				94	114	0	0	0	1	0	94	114		
CALHM2	51063	broad.mit.edu	37	10	105207100	105207100	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:105207100C>T	ENST00000260743.5	-	4	1304	c.781G>A	c.(781-783)Gag>Aag	p.E261K	CALHM2_ENST00000494180.1_5'Flank|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.E261K	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	261					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ATCAGTTCCTCATCATCCTTG	0.607																																						uc001kwz.2		NaN																	0				skin(1)	1						c.(781-783)GAG>AAG		calcium homeostasis modulator 2							103.0	89.0	94.0					10																	105207100		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105207100C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.781G>A	10.37:g.105207100C>T	ENSP00000260743:p.Glu261Lys					CALHM2_uc001kxa.2_Missense_Mutation_p.E261K|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Missense_Mutation_p.E261K	p.E261K	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			3	1167	-			261					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.781G>A	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	7.908	0.735828	0.15574	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.16457	2.34;2.34	5.37	4.35	0.52113	.	0.050625	0.85682	D	0.000000	T	0.02156	0.0067	N	0.00052	-2.395	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.43130	-0.9410	10	0.02654	T	1	-27.4453	6.2672	0.20934	0.0:0.7295:0.0:0.2705	.	261	Q9HA72	CAHM2_HUMAN	K	261	ENSP00000358803:E261K;ENSP00000260743:E261K	ENSP00000260743:E261K	E	-	1	0	CALHM2	105197090	0.999000	0.42202	0.983000	0.44433	0.824000	0.46624	3.471000	0.53107	2.529000	0.85273	0.561000	0.74099	GAG		0.607	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1		NM_015916		13	67	0	0	0	1	0	13	67		
C10orf82	143379	broad.mit.edu	37	10	118425186	118425186	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:118425186G>C	ENST00000369210.3	-	3	261	c.207C>G	c.(205-207)gtC>gtG	p.V69V	C10orf82_ENST00000588184.1_Silent_p.V69V	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	69										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CCTCGGAGTTGACAGGTTTCA	0.567																																						uc001lcr.2		NaN																	0					0						c.(205-207)GTC>GTG		hypothetical protein LOC143379							120.0	109.0	113.0					10																	118425186		2203	4300	6503	SO:0001819	synonymous_variant	143379							g.chr10:118425186G>C	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.207C>G	10.37:g.118425186G>C						C10orf82_uc001lcs.1_Silent_p.V69V	p.V69V	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	3	262	-			69					B3KUM9|D3DRC3	Silent	SNP	ENST00000369210.3	37	c.207C>G	CCDS7596.1																																																																																				0.567	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1		NM_144661		9	42	0	0	0	1	0	9	42		
WDR11	55717	broad.mit.edu	37	10	122622425	122622425	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:122622425G>A	ENST00000263461.6	+	5	951	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TCACTCAAGAGAAACCTAGGT	0.368																																						uc010qtf.1		NaN																	0					0						c.(703-705)GAG>GAA		bromodomain and WD repeat domain containing 2							49.0	56.0	54.0					10																	122622425		2203	4300	6503	SO:0001819	synonymous_variant	55717					integral to membrane		g.chr10:122622425G>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.705G>A	10.37:g.122622425G>A						WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	p.E235E	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			5	943	+			235					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	c.705G>A	CCDS7619.1																																																																																				0.368	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2				25	39	0	0	0	1	0	25	39		
C10orf90	118611	broad.mit.edu	37	10	128193522	128193522	+	Missense_Mutation	SNP	G	G	T	rs200624892		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:128193522G>T	ENST00000284694.7	-	3	367	c.247C>A	c.(247-249)Cac>Aac	p.H83N	C10orf90_ENST00000356858.3_Missense_Mutation_p.H36N|C10orf90_ENST00000544758.1_Missense_Mutation_p.H180N|C10orf90_ENST00000392694.1_Missense_Mutation_p.H36N|C10orf90_ENST00000454341.1_Missense_Mutation_p.H83N|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	83					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGCTTGGCGTGATGTGCACGA	0.517																																						uc001ljq.2		NaN																	0				ovary(1)|skin(1)	2						c.(247-249)CAC>AAC		hypothetical protein LOC118611							155.0	125.0	135.0					10																	128193522		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193522G>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.247C>A	10.37:g.128193522G>T	ENSP00000284694:p.His83Asn					C10orf90_uc001ljp.2_Missense_Mutation_p.H36N|C10orf90_uc010qum.1_Missense_Mutation_p.H180N|C10orf90_uc009yao.2_Missense_Mutation_p.H180N|C10orf90_uc001ljs.1_Missense_Mutation_p.H36N	p.H83N	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	368	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	83					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.247C>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010788	0.19277	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.22945	2.25;2.25;2.26;2.26;1.93	4.76	2.92	0.33932	.	1.088660	0.07000	N	0.823134	T	0.21841	0.0526	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P	0.43352	0.744;0.804;0.744;0.744;0.531	B;B;B;B;B	0.44044	0.341;0.184;0.439;0.341;0.259	T	0.22173	-1.0224	10	0.23302	T	0.38	-0.8036	9.8978	0.41329	0.163:0.0:0.837:0.0	.	180;180;36;83;83	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	N	36;83;83;180;83;36;36	ENSP00000284694:H83N;ENSP00000398786:H83N;ENSP00000444369:H180N;ENSP00000405995:H83N;ENSP00000376459:H36N	ENSP00000284694:H83N	H	-	1	0	C10orf90	128183512	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	1.495000	0.35627	0.627000	0.30340	-0.258000	0.10820	CAC		0.517	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001004298		28	81	1	0	5.60225e-13	1	6.33079e-13	28	81		
MKI67	4288	broad.mit.edu	37	10	129913840	129913840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:129913840C>G	ENST00000368654.3	-	7	1207	c.832G>C	c.(832-834)Gat>Cat	p.D278H	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	278					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTAAACCATCAGCACTTTCT	0.448																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(832-834)GAT>CAT		antigen identified by monoclonal antibody Ki-67							90.0	95.0	93.0					10																	129913840		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913840C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.832G>C	10.37:g.129913840C>G	ENSP00000357643:p.Asp278His					MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.D278H	NM_002417	NP_002408	P46013	KI67_HUMAN			7	1027	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	278					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.832G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	7.037	0.561726	0.13498	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.23754	1.89	2.98	1.02	0.19986	.	0.733493	0.11682	N	0.539753	T	0.16214	0.0390	N	0.19112	0.55	0.09310	N	1	P	0.36733	0.567	B	0.37198	0.243	T	0.17198	-1.0377	10	0.87932	D	0	.	7.5269	0.27660	0.4659:0.534:0.0:0.0	.	278	P46013	KI67_HUMAN	H	278	ENSP00000357643:D278H	ENSP00000357643:D278H	D	-	1	0	MKI67	129803830	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.222000	0.09190	0.283000	0.22279	-0.169000	0.13324	GAT		0.448	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		17	32	0	0	0	1	0	17	32		
GPR123	84435	broad.mit.edu	37	10	134942263	134942263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:134942263G>A	ENST00000392607.3	+	7	1367	c.931G>A	c.(931-933)Gag>Aag	p.E311K	GPR123_ENST00000392606.2_Missense_Mutation_p.E214K|GPR123_ENST00000607359.1_Missense_Mutation_p.E1030K	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	311					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGCCAAGCGTGAGGACGTGTG	0.692																																						uc001llx.3		NaN																	0					0						c.(931-933)GAG>AAG		G protein-coupled receptor 123							40.0	32.0	34.0					10																	134942263		2191	4280	6471	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942263G>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.931G>A	10.37:g.134942263G>A	ENSP00000376384:p.Glu311Lys					GPR123_uc001llw.2_Missense_Mutation_p.E1030K	p.E311K	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	7	1367	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	311			Cytoplasmic (Potential).		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.931G>A	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	19.64	3.866339	0.71949	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.35236	1.32	4.91	3.99	0.46301	GPCR, family 2, secretin-like, conserved site (1);	0.103999	0.39759	N	0.001280	T	0.35307	0.0927	L	0.40543	1.245	0.26932	N	0.966441	B;P	0.44690	0.066;0.841	B;P	0.48598	0.071;0.583	T	0.10870	-1.0611	10	0.32370	T	0.25	-30.7185	10.5803	0.45252	0.095:0.0:0.905:0.0	.	311;1030	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	K	1030;311;215	ENSP00000376384:E311K	ENSP00000357566:E1030K	E	+	1	0	GPR123	134792253	1.000000	0.71417	0.978000	0.43139	0.876000	0.50452	4.357000	0.59436	2.442000	0.82660	0.561000	0.74099	GAG		0.692	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2				9	18	0	0	0	1	0	9	18		
RNH1	6050	broad.mit.edu	37	11	498609	498609	+	Silent	SNP	G	G	A	rs139771148	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:498609G>A	ENST00000534797.1	-	6	2211	c.804C>T	c.(802-804)atC>atT	p.I268I	RNH1_ENST00000397615.2_Silent_p.I268I|RNH1_ENST00000354420.2_Silent_p.I268I|RNH1_ENST00000397604.3_Silent_p.I268I|RNH1_ENST00000533410.1_Silent_p.I268I|RNH1_ENST00000356187.5_Silent_p.I268I|RNH1_ENST00000397614.1_Silent_p.I268I|RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000438658.2_Silent_p.I268I			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGGCAGTGATGCCACACT	0.647																																						uc001lpk.1		NaN																	0					0						c.(802-804)ATC>ATT		ribonuclease/angiogenin inhibitor							63.0	64.0	64.0					11																	498609		2203	4300	6503	SO:0001819	synonymous_variant	6050				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	g.chr11:498609G>A		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.804C>T	11.37:g.498609G>A						RNH1_uc001lpl.1_Silent_p.I268I|RNH1_uc001lpm.1_Silent_p.I268I|RNH1_uc001lpn.1_Silent_p.I268I|RNH1_uc001lpo.1_Silent_p.I268I|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.I268I|RNH1_uc001lpt.1_Silent_p.I25I|RNH1_uc001lpq.1_Silent_p.I268I|RNH1_uc001lpr.1_Silent_p.I268I|RNH1_uc001lps.1_Silent_p.I268I	p.I268I	NM_203389	NP_976323	P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	2212	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	268			LRR 9.		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	ENST00000534797.1	37	c.804C>T	CCDS7697.1																																																																																				0.647	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1		NM_203389		34	45	0	0	0	1	0	34	45		
MUC6	4588	broad.mit.edu	37	11	1028259	1028259	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1028259C>G	ENST00000421673.2	-	14	1770	c.1720G>C	c.(1720-1722)Gag>Cag	p.E574Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	574	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTCAGTCTCACGCTCCAGA	0.662																																						uc001lsw.2		NaN																	0				ovary(1)	1						c.(1720-1722)GAG>CAG		mucin 6, gastric							21.0	27.0	25.0					11																	1028259		1950	4124	6074	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028259C>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1720G>C	11.37:g.1028259C>G	ENSP00000406861:p.Glu574Gln						p.E574Q	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1771	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	574			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1720G>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066754	0.55539	.	.	ENSG00000184956	ENST00000421673	T	0.19669	2.13	4.52	4.52	0.55395	von Willebrand factor, type D domain (1);	0.000000	0.31177	U	0.008110	T	0.18923	0.0454	N	0.17674	0.51	0.32742	N	0.507532	P	0.51351	0.944	P	0.47044	0.535	T	0.07558	-1.0766	10	0.19147	T	0.46	.	17.6138	0.88063	0.0:1.0:0.0:0.0	.	574	Q6W4X9	MUC6_HUMAN	Q	574	ENSP00000406861:E574Q	ENSP00000406861:E574Q	E	-	1	0	MUC6	1018259	0.580000	0.26733	0.953000	0.39169	0.956000	0.61745	2.871000	0.48459	2.261000	0.74972	0.491000	0.48974	GAG		0.662	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540		4	7	0	0	0	1	0	4	7		
CTSD	1509	broad.mit.edu	37	11	1775286	1775286	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1775286G>C	ENST00000236671.2	-	7	1042	c.910C>G	c.(910-912)Ccg>Gcg	p.P304A	RP11-295K3.1_ENST00000427721.1_Silent_p.A174A	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	304					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCATCCACCGGGCCCACCATG	0.711																																						uc001luc.1		NaN																	0					0						c.(910-912)CCG>GCG		cathepsin D preproprotein	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						50.0	37.0	41.0					11																	1775286		2201	4298	6499	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1775286G>C	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.910C>G	11.37:g.1775286G>C	ENSP00000236671:p.Pro304Ala					CTSD_uc009yda.1_RNA	p.P304A	NM_001909	NP_001900	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	7	1043	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	304					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.910C>G	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	g	15.67	2.900822	0.52227	.	.	ENSG00000117984	ENST00000236671;ENST00000429746;ENST00000438213	T;T;T	0.69435	-0.4;0.14;0.14	4.25	2.36	0.29203	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.110733	0.64402	D	0.000006	D	0.83986	0.5373	H	0.95645	3.7	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	D	0.85632	0.1271	10	0.87932	D	0	.	10.1603	0.42847	0.1638:0.0:0.8362:0.0	.	304	P07339	CATD_HUMAN	A	304;81;289	ENSP00000236671:P304A;ENSP00000402586:P81A;ENSP00000415036:P289A	ENSP00000236671:P304A	P	-	1	0	CTSD	1731862	1.000000	0.71417	0.976000	0.42696	0.169000	0.22640	7.247000	0.78257	0.557000	0.29117	0.462000	0.41574	CCG		0.711	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5		NM_001909		6	22	0	0	0	1	0	6	22		
TNNI2	7136	broad.mit.edu	37	11	1862395	1862395	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1862395G>C	ENST00000381906.1	+	7	480	c.411G>C	c.(409-411)ctG>ctC	p.L137L	TNNI2_ENST00000381905.3_Silent_p.L137L|TNNI2_ENST00000252898.7_Silent_p.L137L|TNNI2_ENST00000381911.1_Silent_p.L137L	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	137					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCATGGACCTGAGGGCCAACC	0.652																																						uc010qxe.1		NaN																	0					0						c.(409-411)CTG>CTC		fast-twitch skeletal muscle troponin I isoform							57.0	49.0	51.0					11																	1862395		2202	4299	6501	SO:0001819	synonymous_variant	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1862395G>C	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.411G>C	11.37:g.1862395G>C						TNNI2_uc010qxc.1_Silent_p.L135L|TNNI2_uc010qxd.1_Silent_p.L135L	p.L137L	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	5	433	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	137					A6NIV8|A6NJU5	Silent	SNP	ENST00000381906.1	37	c.411G>C	CCDS31333.1																																																																																				0.652	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2		NM_003282		16	24	0	0	0	1	0	16	24		
TRPM5	29850	broad.mit.edu	37	11	2432724	2432724	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:2432724C>A	ENST00000155858.6	-	18	2648	c.2640G>T	c.(2638-2640)ctG>ctT	p.L880L	TRPM5_ENST00000528453.1_Silent_p.L880L|TRPM5_ENST00000452833.1_Silent_p.L882L|TRPM5_ENST00000533060.1_Silent_p.L880L	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCACACGCTCAGAAAGAAGA	0.672																																					NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2638-2640)CTG>CTT		transient receptor potential cation channel,							33.0	38.0	36.0					11																	2432724		2201	4289	6490	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2432724C>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2640G>T	11.37:g.2432724C>A						TRPM5_uc010qxl.1_Silent_p.L880L|TRPM5_uc009ydn.2_Silent_p.L882L	p.L880L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	18	2649	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	880			Helical; (Potential).			Silent	SNP	ENST00000155858.6	37	c.2640G>T	CCDS31340.1																																																																																				0.672	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1		NM_014555		15	68	1	0	0.000566183	1	0.000583312	15	68		
OR51V1	283111	broad.mit.edu	37	11	5221178	5221178	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:5221178G>A	ENST00000321255.1	-	1	752	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	251					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTGGGAGATGCAGGTCT	0.483																																						uc010qyz.1		NaN																	0				skin(1)	1						c.(751-753)ATC>ATT		olfactory receptor, family 51, subfamily V,							133.0	118.0	123.0					11																	5221178		2201	4298	6499	SO:0001819	synonymous_variant	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221178G>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.753C>T	11.37:g.5221178G>A							p.I251I	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	753	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	251			Helical; Name=6; (Potential).			Silent	SNP	ENST00000321255.1	37	c.753C>T	CCDS31375.1																																																																																				0.483	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1		NM_001004760		22	52	0	0	0	1	0	22	52		
ZNF214	7761	broad.mit.edu	37	11	7021665	7021665	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:7021665C>G	ENST00000278314.4	-	3	1564	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.E417Q	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CCACAGTCTTCACATTTATAA	0.398																																					Ovarian(22;251 657 736 21522 46864)	uc001mfa.2		NaN																	0				skin(1)	1						c.(1249-1251)GAA>CAA		zinc finger protein 214							85.0	90.0	88.0					11																	7021665		2201	4296	6497	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021665C>G	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1249G>C	11.37:g.7021665C>G	ENSP00000278314:p.Glu417Gln					ZNF214_uc010ray.1_Missense_Mutation_p.E417Q|ZNF214_uc009yfh.1_Missense_Mutation_p.E417Q	p.E417Q	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1552	-			417			C2H2-type 6.		B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1249G>C	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	6.514	0.463099	0.12402	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.07688	3.17;3.17	3.44	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.842933	0.09971	N	0.732299	T	0.05318	0.0141	N	0.16602	0.42	0.09310	N	1	B	0.24721	0.11	B	0.24006	0.05	T	0.37934	-0.9684	10	0.49607	T	0.09	.	4.3214	0.11018	0.2233:0.6571:0.0:0.1195	.	417	Q9UL59	ZN214_HUMAN	Q	417	ENSP00000278314:E417Q;ENSP00000445373:E417Q	ENSP00000278314:E417Q	E	-	1	0	ZNF214	6978241	0.000000	0.05858	0.984000	0.44739	0.930000	0.56654	-1.909000	0.01586	1.023000	0.39654	0.655000	0.94253	GAA		0.398	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1				54	79	0	0	0	1	0	54	79		
ADM	133	broad.mit.edu	37	11	10327968	10327968	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:10327968G>A	ENST00000528655.1	+	3	955	c.338G>A	c.(337-339)gGg>gAg	p.G113E	ADM_ENST00000525063.1_Missense_Mutation_p.G113E|ADM_ENST00000530439.1_Missense_Mutation_p.G45E|ADM_ENST00000534464.1_Missense_Mutation_p.G66E|ADM_ENST00000526492.1_Silent_p.R123R|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000278175.5_Missense_Mutation_p.G113E			P35318	ADML_HUMAN	adrenomedullin	113					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		TGCCGCTTCGGGACGTGCACG	0.637																																						uc001mik.1		NaN																	0				central_nervous_system(1)	1						c.(337-339)GGG>GAG		adrenomedullin precursor							35.0	36.0	36.0					11																	10327968		2201	4294	6495	SO:0001583	missense	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327968G>A	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.338G>A	11.37:g.10327968G>A	ENSP00000436607:p.Gly113Glu					ADM_uc001mil.1_Missense_Mutation_p.G113E|ADM_uc001mim.1_Missense_Mutation_p.G66E	p.G113E	NM_001124	NP_001115	P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	3	955	+			113					B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	c.338G>A	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372469	0.95923	.	.	ENSG00000148926	ENST00000278175;ENST00000534464;ENST00000530439;ENST00000528655;ENST00000525063	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.60183	0.2249	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63440	-0.6637	10	0.87932	D	0	-20.9067	19.5644	0.95388	0.0:0.0:1.0:0.0	.	113	P35318	ADML_HUMAN	E	113;66;45;113;113	ENSP00000278175:G113E;ENSP00000431438:G66E;ENSP00000436837:G45E;ENSP00000436607:G113E;ENSP00000435124:G113E	ENSP00000278175:G113E	G	+	2	0	ADM	10284544	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.708000	0.74660	2.633000	0.89246	0.561000	0.74099	GGG		0.637	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1		NM_001124		10	33	0	0	0	1	0	10	33		
PIK3C2A	5286	broad.mit.edu	37	11	17139154	17139154	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:17139154G>C	ENST00000265970.7	-	18	3099	c.3100C>G	c.(3100-3102)Ctc>Gtc	p.L1034V	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L654V|PIK3C2A_ENST00000531428.1_Intron|RNU6-593P_ENST00000364716.1_RNA	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1034	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ACTGACAGGAGAGCACCCAAA	0.413																																						uc001mmq.3		NaN																	0				lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(3100-3102)CTC>GTC		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						113.0	108.0	110.0					11																	17139154		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17139154G>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3100C>G	11.37:g.17139154G>C	ENSP00000265970:p.Leu1034Val					PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.L654V|PIK3C2A_uc001mmr.3_Intron	p.L1034V	NM_002645	NP_002636	O00443	P3C2A_HUMAN			18	3166	-			1034					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.3100C>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544275	0.65198	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.68479	-0.33;-0.33	5.4	4.38	0.52667	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.132210	0.56097	D	0.000037	T	0.69160	0.3080	M	0.78456	2.415	0.58432	D	0.999995	P	0.40000	0.698	P	0.45753	0.492	T	0.73072	-0.4098	10	0.72032	D	0.01	-6.1636	6.4653	0.21977	0.2172:0.0:0.7828:0.0	.	1034	O00443	P3C2A_HUMAN	V	1034;654	ENSP00000265970:L1034V;ENSP00000438687:L654V	ENSP00000265970:L1034V	L	-	1	0	PIK3C2A	17095730	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.456000	0.60081	2.526000	0.85167	0.591000	0.81541	CTC		0.413	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1		NM_002645		14	61	0	0	0	1	0	14	61		
ANO3	63982	broad.mit.edu	37	11	26463525	26463525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:26463525C>T	ENST00000256737.3	+	2	959	c.107C>T	c.(106-108)tCc>tTc	p.S36F	ANO3_ENST00000525139.1_Missense_Mutation_p.S20F|ANO3_ENST00000537978.1_Missense_Mutation_p.S20F|ANO3_ENST00000531646.1_Missense_Mutation_p.S36F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	36					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCTCGGAGATCCCTGCCTTGC	0.438																																						uc001mqt.3		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(106-108)TCC>TTC		transmembrane protein 16C							144.0	147.0	146.0					11																	26463525		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26463525C>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.107C>T	11.37:g.26463525C>T	ENSP00000256737:p.Ser36Phe					ANO3_uc010rdr.1_Missense_Mutation_p.S20F	p.S36F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			2	252	+			36			Cytoplasmic (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.107C>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116230	0.77323	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.24	5.24	0.73138	.	0.141593	0.49916	D	0.000123	T	0.67692	0.2920	N	0.24115	0.695	0.51012	D	0.999906	D	0.71674	0.998	D	0.78314	0.991	T	0.70901	-0.4746	10	0.87932	D	0	.	15.0504	0.71865	0.0:1.0:0.0:0.0	.	36	Q9BYT9	ANO3_HUMAN	F	20;20;36;36	ENSP00000440737:S20F;ENSP00000432576:S20F;ENSP00000256737:S36F;ENSP00000435275:S36F	ENSP00000256737:S36F	S	+	2	0	ANO3	26420101	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.172000	0.58243	2.831000	0.97527	0.650000	0.86243	TCC		0.438	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1		NM_031418		29	127	0	0	0	1	0	29	127		
CCDC34	91057	broad.mit.edu	37	11	27378991	27378991	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:27378991C>T	ENST00000328697.6	-	2	1130	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	CCDC34_ENST00000317945.6_Missense_Mutation_p.E153K	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	153										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TCTTCTTTTTCTTTGCCAATA	0.433																																						uc001mrh.1		NaN																	0					0						c.(457-459)GAA>AAA		coiled-coil domain containing 34 isoform 1							148.0	141.0	144.0					11																	27378991		2202	4299	6501	SO:0001583	missense	91057							g.chr11:27378991C>T	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.457G>A	11.37:g.27378991C>T	ENSP00000330240:p.Glu153Lys					CCDC34_uc001mri.1_Missense_Mutation_p.E153K	p.E153K	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN			2	511	-			153			Potential.		B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	c.457G>A	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105352	0.94245	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.23348	1.91;1.91	5.61	5.61	0.85477	.	0.070461	0.56097	D	0.000037	T	0.50463	0.1617	L	0.61218	1.895	0.43021	D	0.994577	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.47947	-0.9077	10	0.72032	D	0.01	-11.2396	17.7741	0.88502	0.0:1.0:0.0:0.0	.	153;153	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	K	153	ENSP00000330240:E153K;ENSP00000321563:E153K	ENSP00000321563:E153K	E	-	1	0	CCDC34	27335567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.484000	0.60271	2.802000	0.96397	0.655000	0.94253	GAA		0.433	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2		NM_030771		16	92	0	0	0	1	0	16	92		
ABTB2	25841	broad.mit.edu	37	11	34189480	34189480	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:34189480C>A	ENST00000435224.2	-	6	2047	c.1623G>T	c.(1621-1623)ttG>ttT	p.L541F	ABTB2_ENST00000298992.2_Missense_Mutation_p.L355F	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	541					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CAGCATCAATCAACATCTGGA	0.562																																						uc001mvl.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1063-1065)CTG>CTT		ankyrin repeat and BTB (POZ) domain containing							191.0	118.0	143.0					11																	34189480		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34189480C>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1623G>T	11.37:g.34189480C>A	ENSP00000410157:p.Leu541Phe						p.L355L	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			6	1295	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	355					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.1065G>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743614	0.69418	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.74842	-0.88;-0.88	5.03	0.788	0.18601	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000002	T	0.80171	0.4574	M	0.70903	2.155	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.75964	-0.3132	10	0.87932	D	0	-19.4391	3.2559	0.06831	0.1482:0.5047:0.2021:0.145	.	355	Q8N961	ABTB2_HUMAN	F	541;355	ENSP00000410157:L541F;ENSP00000298992:L355F	ENSP00000298992:L355F	L	-	3	2	ABTB2	34146056	0.740000	0.28207	0.991000	0.47740	0.987000	0.75469	-0.028000	0.12350	0.130000	0.18549	0.491000	0.48974	TTG		0.562	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3		NM_145804		3	16	1	0	0.004672	1	0.00473971	3	16		
LDLRAD3	143458	broad.mit.edu	37	11	36248961	36248961	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:36248961G>T	ENST00000315571.5	+	5	802	c.781G>T	c.(781-783)Gag>Tag	p.E261*	LDLRAD3_ENST00000524419.1_Nonsense_Mutation_p.E251*|LDLRAD3_ENST00000528989.1_Nonsense_Mutation_p.E212*|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	261					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CTCCTACTCCGAGGCCTTGCT	0.577																																						uc001mwk.1		NaN																	0				central_nervous_system(1)	1						c.(781-783)GAG>TAG		low density lipoprotein receptor class A domain							54.0	50.0	52.0					11																	36248961		2202	4298	6500	SO:0001587	stop_gained	143458					integral to membrane	receptor activity	g.chr11:36248961G>T	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.781G>T	11.37:g.36248961G>T	ENSP00000318607:p.Glu261*					LDLRAD3_uc010rey.1_Nonsense_Mutation_p.E212*|LDLRAD3_uc010rez.1_Nonsense_Mutation_p.E140*|LDLRAD3_uc010rfa.1_Intron	p.E261*	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN			5	818	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	261			Cytoplasmic (Potential).		B7Z1U3|B9EG81|Q8NBJ0	Nonsense_Mutation	SNP	ENST00000315571.5	37	c.781G>T	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128753	0.77549	.	.	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	.	.	.	5.31	5.31	0.75309	.	0.062020	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.988	0.92780	0.0:0.0:1.0:0.0	.	.	.	.	X	212;251;261	.	ENSP00000318607:E261X	E	+	1	0	LDLRAD3	36205537	1.000000	0.71417	0.984000	0.44739	0.845000	0.48019	3.995000	0.57001	2.476000	0.83614	0.655000	0.94253	GAG		0.577	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1		NM_174902		10	97	1	0	0.000442599	1	0.000456363	10	97		
OR4X1	390113	broad.mit.edu	37	11	48285748	48285748	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:48285748C>G	ENST00000320048.1	+	1	336	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	112						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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AGGCCTTTCTCCTGATGGTGA	0.493																																						uc010rht.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(334-336)CTC>CTG		olfactory receptor, family 4, subfamily X,							76.0	72.0	73.0					11																	48285748		2201	4298	6499	SO:0001819	synonymous_variant	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285748C>G	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.336C>G	11.37:g.48285748C>G							p.L112L	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			1	336	+			112			Helical; Name=3; (Potential).		Q6IF74	Silent	SNP	ENST00000320048.1	37	c.336C>G	CCDS31487.1																																																																																				0.493	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1		NM_001004726		9	56	0	0	0	1	0	9	56		
OR5D18	219438	broad.mit.edu	37	11	55587800	55587800	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:55587800T>C	ENST00000333976.4	+	1	715	c.695T>C	c.(694-696)gTc>gCc	p.V232A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATGCGTTCAGTCAGTGGGCGC	0.498																																						uc010rin.1		NaN																	0				skin(2)|ovary(1)	3						c.(694-696)GTC>GCC		olfactory receptor, family 5, subfamily D,							147.0	123.0	131.0					11																	55587800		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587800T>C	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.695T>C	11.37:g.55587800T>C	ENSP00000335025:p.Val232Ala						p.V232A	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	695	+		all_epithelial(135;0.208)	232			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.695T>C	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.528901	0.00147	.	.	ENSG00000186119	ENST00000333976	T	0.00028	8.92	4.78	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.193725	0.25738	N	0.028626	T	0.00039	0.0001	N	0.00227	-1.8	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28235	-1.0050	10	0.02654	T	1	-8.807	10.3934	0.44185	0.0:0.8347:0.0:0.1653	.	232	Q8NGL1	OR5DI_HUMAN	A	232	ENSP00000335025:V232A	ENSP00000335025:V232A	V	+	2	0	OR5D18	55344376	0.000000	0.05858	0.030000	0.17652	0.064000	0.16182	-0.405000	0.07196	0.578000	0.29487	-0.419000	0.06015	GTC		0.498	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1		NM_001001952		16	105	0	0	0	1	0	16	105		
OR5AS1	219447	broad.mit.edu	37	11	55798344	55798344	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:55798344C>T	ENST00000313555.1	+	1	450	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGGCATATTTCAGTGGAAGTA	0.453																																						uc010riw.1		NaN																	0				ovary(3)|liver(1)|skin(1)	5						c.(448-450)TTC>TTT		olfactory receptor, family 5, subfamily AS,							227.0	200.0	209.0					11																	55798344		2201	4296	6497	SO:0001819	synonymous_variant	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798344C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.450C>T	11.37:g.55798344C>T							p.F150F	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	450	+	Esophageal squamous(21;0.00693)		150			Helical; Name=4; (Potential).		Q6IFB8	Silent	SNP	ENST00000313555.1	37	c.450C>T	CCDS31516.1																																																																																				0.453	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1		NM_001001921		17	235	0	0	0	1	0	17	235		
OR5M10	390167	broad.mit.edu	37	11	56345151	56345152	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:56345151_56345152CC>TT	ENST00000526812.2	-	1	111_112	c.46_47GG>AA	c.(46-48)GGa>AAa	p.G16K		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTCTGTCAGTCCTAAGAGAATG	0.455																																						uc001niz.1		NaN																	0					0						c.(46-48)GGA>AAA		olfactory receptor, family 5, subfamily M,																																				SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345151_56345152CC>TT	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.46_47delinsTT	11.37:g.56345151_56345152delinsTT	ENSP00000436004:p.Gly16Lys						p.G16K	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	46_47	-			16			Extracellular (Potential).		B9EIL9	Missense_Mutation	DNP	ENST00000526812.2	37	c.46_47GG>AA	CCDS53630.1																																																																																				0.455	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1		NM_001004741		29	74	0	0	0	1	0	29	74		
SSRP1	6749	broad.mit.edu	37	11	57099862	57099862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:57099862C>T	ENST00000278412.2	-	7	1133	c.867G>A	c.(865-867)atG>atA	p.M289I		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	289					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCACTCGTTCATGTTCAGAG	0.522																																					Colon(89;1000 1340 6884 23013 41819)	uc001njt.2		NaN																	0				ovary(2)	2						c.(865-867)ATG>ATA		structure specific recognition protein 1							219.0	166.0	184.0					11																	57099862		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57099862C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.867G>A	11.37:g.57099862C>T	ENSP00000278412:p.Met289Ile						p.M289I	NM_003146	NP_003137	Q08945	SSRP1_HUMAN			7	1134	-			289					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.867G>A	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221071	0.58560	.	.	ENSG00000149136	ENST00000278412;ENST00000526696	T;T	0.39056	1.1;1.1	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.43701	1.375	0.80722	D	1	B	0.22414	0.069	B	0.15870	0.014	T	0.08973	-1.0696	10	0.38643	T	0.18	-34.2391	19.5069	0.95121	0.0:1.0:0.0:0.0	.	289	Q08945	SSRP1_HUMAN	I	289;192	ENSP00000278412:M289I;ENSP00000431154:M192I	ENSP00000278412:M289I	M	-	3	0	SSRP1	56856438	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.239000	0.78182	2.941000	0.99782	0.655000	0.94253	ATG		0.522	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1		NM_003146		26	129	0	0	0	1	0	26	129		
CNTF	1270	broad.mit.edu	37	11	58391557	58391557	+	Silent	SNP	G	G	A	rs202164698		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:58391557G>A	ENST00000361987.4	+	2	245	c.165G>A	c.(163-165)ggG>ggA	p.G55G	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	55					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTGCGGATGGGATGCCAGTGG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19902	0.0		0.001	False		,,,				2504	0.0					uc001nna.3		NaN																	0				ovary(1)	1						c.(163-165)GGG>GGA		ciliary neurotrophic factor							120.0	109.0	113.0					11																	58391557		2201	4295	6496	SO:0001819	synonymous_variant	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58391557G>A	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.165G>A	11.37:g.58391557G>A						ZFP91-CNTF_uc010rkm.1_RNA	p.G55G	NM_000614	NP_000605	P26441	CNTF_HUMAN			2	245	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	55					B2RAB2	Silent	SNP	ENST00000361987.4	37	c.165G>A	CCDS31554.1																																																																																				0.527	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1		NM_000614		11	75	0	0	0	1	0	11	75		
CNTF	1270	broad.mit.edu	37	11	58391595	58391595	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:58391595C>A	ENST00000361987.4	+	2	283	c.203C>A	c.(202-204)aCc>aAc	p.T68N	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	68					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGTGAGCTGACCGAGGCAGAG	0.537																																						uc001nna.3		NaN																	0				ovary(1)	1						c.(202-204)ACC>AAC		ciliary neurotrophic factor							130.0	114.0	119.0					11																	58391595		2201	4295	6496	SO:0001583	missense	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58391595C>A	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.203C>A	11.37:g.58391595C>A	ENSP00000355370:p.Thr68Asn					ZFP91-CNTF_uc010rkm.1_RNA	p.T68N	NM_000614	NP_000605	P26441	CNTF_HUMAN			2	283	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	68					B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	c.203C>A	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511256	0.44660	.	.	ENSG00000242689	ENST00000361987	T	0.39997	1.05	5.82	0.496	0.16896	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.35508	0.0934	M	0.64997	1.995	0.09310	N	0.999997	B	0.14012	0.009	B	0.12156	0.007	T	0.28839	-1.0031	9	0.31617	T	0.26	-1.6574	6.1237	0.20167	0.1294:0.4243:0.3761:0.0702	.	68	P26441	CNTF_HUMAN	N	68	ENSP00000355370:T68N	ENSP00000447778:T68N	T	+	2	0	CNTF	58148171	0.069000	0.21087	0.070000	0.20053	0.974000	0.67602	0.311000	0.19380	-0.143000	0.11334	-0.176000	0.13171	ACC		0.537	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1		NM_000614		13	68	1	0	2.27111e-07	1	2.43748e-07	13	68		
OR5AN1	390195	broad.mit.edu	37	11	59132261	59132261	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:59132261G>C	ENST00000313940.2	+	1	377	c.330G>C	c.(328-330)ctG>ctC	p.L110L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CGATGGGACTGAGTGAGTCTT	0.443																																						uc010rks.1		NaN																	0				ovary(1)	1						c.(328-330)CTG>CTC		olfactory receptor, family 5, subfamily AN,							236.0	208.0	217.0					11																	59132261		2201	4295	6496	SO:0001819	synonymous_variant	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132261G>C	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.330G>C	11.37:g.59132261G>C							p.L110L	NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN			1	330	+			110			Helical; Name=3; (Potential).		B9EIS2|Q6IEV4	Silent	SNP	ENST00000313940.2	37	c.330G>C	CCDS31559.1																																																																																				0.443	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1		NM_001004729		19	194	0	0	0	1	0	19	194		
OR5A1	219982	broad.mit.edu	37	11	59211279	59211279	+	Missense_Mutation	SNP	C	C	T	rs574597111		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:59211279C>T	ENST00000302030.2	+	1	663	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S213L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GGAGGAACATCGTTCCTCCAA	0.542																																						uc001nnx.1		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(1)|central_nervous_system(1)	2						c.(637-639)TCG>TTG		olfactory receptor, family 5, subfamily A,							226.0	212.0	217.0					11																	59211279		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211279C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.638C>T	11.37:g.59211279C>T	ENSP00000303096:p.Ser213Leu						p.S213L	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	638	+			213			Helical; Name=5; (Potential).		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.638C>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.172239	0.57584	.	.	ENSG00000172320	ENST00000302030	T	0.36878	1.23	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.148247	0.31438	N	0.007653	T	0.63390	0.2507	M	0.75615	2.305	0.47123	D	0.999328	D	0.89917	1.0	D	0.97110	1.0	T	0.64279	-0.6445	10	0.87932	D	0	-10.1382	19.0362	0.92980	0.0:1.0:0.0:0.0	.	213	Q8NGJ0	OR5A1_HUMAN	L	213	ENSP00000303096:S213L	ENSP00000303096:S213L	S	+	2	0	OR5A1	58967855	0.000000	0.05858	0.825000	0.32803	0.044000	0.14063	0.784000	0.26816	2.835000	0.97688	0.650000	0.86243	TCG		0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1		NM_001004728		39	215	0	0	0	1	0	39	215		
PGA5	5222	broad.mit.edu	37	11	61017253	61017253	+	Missense_Mutation	SNP	G	G	T	rs139795742		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61017253G>T	ENST00000312403.5	+	7	1071	c.886G>T	c.(886-888)Gac>Tac	p.D296Y	CTD-2331C18.5_ENST00000537594.1_RNA|PGA5_ENST00000541528.1_Missense_Mutation_p.D36Y|PGA4_ENST00000422676.2_Missense_Mutation_p.D296Y|PGA5_ENST00000451616.2_Missense_Mutation_p.D142Y	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	296					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|skin(1)	2						CATCCAGAGCGACATCGGAGC	0.612																																						uc001nqz.2		NaN																	0				skin(1)	1						c.(886-888)GAC>TAC		pepsinogen 5, group I precursor							142.0	146.0	145.0					11																	61017253		2202	4296	6498	SO:0001583	missense	5222				digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr11:61017253G>T	BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.886G>T	11.37:g.61017253G>T	ENSP00000309542:p.Asp296Tyr						p.D296Y	NM_014224	NP_055039	P00790	PEPA_HUMAN			7	916	+			296					A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	ENST00000312403.5	37	c.886G>T	CCDS8001.1	.	.	.	.	.	.	.	.	.	.	G	4.081	0.012935	0.07912	.	.	ENSG00000229183;ENSG00000256713;ENSG00000256713;ENSG00000256713;ENSG00000256713;ENSG00000256713	ENST00000422676;ENST00000312403;ENST00000537359;ENST00000544083;ENST00000451616;ENST00000541528	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	2.91	-5.82	0.02333	.	0.506909	0.18694	N	0.133763	T	0.10594	0.0259	N	0.00666	-1.275	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32613	-0.9900	10	0.07030	T	0.85	.	0.5903	0.00726	0.2704:0.122:0.2813:0.3263	.	296	B7ZW62	.	Y	296;296;253;155;142;36	ENSP00000395402:D296Y;ENSP00000309542:D296Y;ENSP00000408739:D142Y;ENSP00000441981:D36Y	ENSP00000395402:D296Y	D	+	1	0	PGA4;PGA5	60773829	0.000000	0.05858	0.000000	0.03702	0.565000	0.35776	-0.827000	0.04424	-1.340000	0.02227	-0.851000	0.03033	GAC		0.612	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397972.1		NM_014224		41	196	1	0	6.48837e-15	1	7.37181e-15	41	196		
MYRF	745	broad.mit.edu	37	11	61548506	61548506	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61548506C>G	ENST00000278836.5	+	20	2657	c.2561C>G	c.(2560-2562)tCt>tGt	p.S854C	MYRF_ENST00000389602.4_Missense_Mutation_p.S245C|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.S819C	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	854					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATACAGCCCTCTTTGCTGCTG	0.617																																						uc001nsc.1		NaN																	0				breast(1)	1						c.(2560-2562)TCT>TGT		myelin gene regulatory factor isoform 2							75.0	71.0	73.0					11																	61548506		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61548506C>G		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2561C>G	11.37:g.61548506C>G	ENSP00000278836:p.Ser854Cys					C11orf9_uc001nse.1_Missense_Mutation_p.S819C|C11orf9_uc010rll.1_Missense_Mutation_p.S245C	p.S854C	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			20	2657	+			854					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.2561C>G	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438030	0.62955	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.39787	1.19;1.4;1.06	4.9	4.9	0.64082	.	0.540436	0.20770	N	0.086002	T	0.46444	0.1393	L	0.47716	1.5	0.80722	D	1	P;B;D	0.59357	0.856;0.004;0.985	B;B;P	0.49999	0.219;0.006;0.628	T	0.44050	-0.9353	10	0.56958	D	0.05	-14.8367	14.3121	0.66422	0.0:1.0:0.0:0.0	.	245;819;854	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	C	854;819;245	ENSP00000278836:S854C;ENSP00000265460:S819C;ENSP00000374253:S245C	ENSP00000265460:S819C	S	+	2	0	C11orf9	61305082	0.002000	0.14202	0.085000	0.20634	0.842000	0.47809	1.576000	0.36504	2.644000	0.89710	0.655000	0.94253	TCT		0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2		NM_013279		10	44	0	0	0	1	0	10	44		
FADS2	9415	broad.mit.edu	37	11	61624491	61624491	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61624491G>C	ENST00000278840.4	+	6	1383	c.753G>C	c.(751-753)aaG>aaC	p.K251N	FADS2_ENST00000522056.1_Missense_Mutation_p.K220N|FADS2_ENST00000257261.6_Missense_Mutation_p.K229N|FADS2_ENST00000521849.1_Missense_Mutation_p.K251N	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	251					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AGTACGGCAAGAAGAAGCTGA	0.577																																						uc001nsl.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(751-753)AAG>AAC		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						190.0	155.0	167.0					11																	61624491		2202	4299	6501	SO:0001583	missense	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61624491G>C	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.753G>C	11.37:g.61624491G>C	ENSP00000278840:p.Lys251Asn					FADS2_uc001nsj.2_Missense_Mutation_p.K229N|FADS2_uc010rlo.1_Missense_Mutation_p.K220N|FADS2_uc001nsk.2_Missense_Mutation_p.K251N	p.K251N	NM_004265	NP_004256	O95864	FADS2_HUMAN			6	903	+			251			Cytoplasmic (Potential).		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	c.753G>C	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338488	0.60963	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840;ENST00000521849;ENST00000521571;ENST00000355484	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.25	5.25	0.73442	Fatty acid desaturase, type 1 (1);	0.249725	0.29737	N	0.011331	T	0.72220	0.3433	M	0.72479	2.2	0.42742	D	0.993744	P;P;P;P	0.47484	0.741;0.741;0.896;0.889	P;P;P;P	0.54210	0.454;0.574;0.745;0.66	T	0.69146	-0.5222	10	0.21540	T	0.41	-14.6768	9.9505	0.41636	0.0929:0.0:0.9071:0.0	.	220;251;251;229	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	N	229;220;251;251;17;17	ENSP00000257261:K229N;ENSP00000429500:K220N;ENSP00000278840:K251N;ENSP00000431091:K251N;ENSP00000443867:K17N;ENSP00000437965:K17N	ENSP00000257261:K229N	K	+	3	2	FADS2	61381067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.211000	0.51137	2.460000	0.83146	0.561000	0.74099	AAG		0.577	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2		NM_004265		13	71	0	0	0	1	0	13	71		
FADS3	3995	broad.mit.edu	37	11	61646279	61646279	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61646279G>C	ENST00000278829.2	-	4	715	c.563C>G	c.(562-564)tCc>tGc	p.S188C	FADS3_ENST00000525588.1_Missense_Mutation_p.S160C|FADS3_ENST00000540820.1_Missense_Mutation_p.S188C|FADS3_ENST00000527697.1_Missense_Mutation_p.S64C	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	188					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTGAAGATGGAGGCATGGCC	0.642																																						uc001nsm.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(562-564)TCC>TGC		fatty acid desaturase 3							75.0	64.0	67.0					11																	61646279		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61646279G>C		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.563C>G	11.37:g.61646279G>C	ENSP00000278829:p.Ser188Cys					FADS3_uc001nsn.2_Missense_Mutation_p.S64C	p.S188C	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN			4	716	-			188			Cytoplasmic (Potential).		O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.563C>G	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054552	0.55218	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19	5.66	5.66	0.87406	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.59018	0.2163	M	0.93978	3.48	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.73708	0.981;0.981	T	0.69420	-0.5150	9	0.72032	D	0.01	-3.4821	18.3381	0.90295	0.0:0.0:1.0:0.0	.	64;188	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	C	64;188;188;160;64;64	ENSP00000431533:S64C;ENSP00000278829:S188C;ENSP00000439308:S188C;ENSP00000432206:S160C;ENSP00000436890:S64C;ENSP00000434551:S64C	ENSP00000278829:S188C	S	-	2	0	FADS3	61402855	1.000000	0.71417	0.076000	0.20297	0.006000	0.05464	8.812000	0.91959	2.666000	0.90696	0.655000	0.94253	TCC		0.642	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1				7	44	0	0	0	1	0	7	44		
GANAB	23193	broad.mit.edu	37	11	62402467	62402467	+	Missense_Mutation	SNP	G	G	C	rs368377884		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:62402467G>C	ENST00000356638.3	-	5	402	c.386C>G	c.(385-387)tCt>tGt	p.S129C	GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000346178.4_Missense_Mutation_p.S129C|GANAB_ENST00000534779.1_Missense_Mutation_p.S15C|GANAB_ENST00000540933.1_Missense_Mutation_p.S32C	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	129					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	ACCAGAGACAGAAAGCCTGGG	0.463																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(385-387)TCT>TGT		neutral alpha-glucosidase AB isoform 2							103.0	96.0	98.0					11																	62402467		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62402467G>C	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.386C>G	11.37:g.62402467G>C	ENSP00000349053:p.Ser129Cys					GANAB_uc001nua.2_Missense_Mutation_p.S129C|GANAB_uc001nuc.2_Missense_Mutation_p.S32C|GANAB_uc010rma.1_Missense_Mutation_p.S15C|GANAB_uc010rmb.1_Missense_Mutation_p.S15C	p.S129C	NM_198334	NP_938148	Q14697	GANAB_HUMAN			5	419	-			129					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.386C>G	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926738	0.73327	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933;ENST00000525994	D;D;D;D;T	0.89270	-2.09;-2.09;-2.49;-2.09;1.27	5.25	5.25	0.73442	Glycoside hydrolase-type carbohydrate-binding (1);	0.419791	0.26715	N	0.022869	D	0.92625	0.7657	M	0.70275	2.135	0.53005	D	0.999961	D;D;B;D	0.63046	0.992;0.983;0.43;0.991	P;P;B;P	0.57776	0.827;0.827;0.222;0.818	D	0.92718	0.6189	10	0.56958	D	0.05	-16.8381	16.3956	0.83604	0.0:0.0:1.0:0.0	.	15;15;129;129	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	C	129;129;15;32;15	ENSP00000340466:S129C;ENSP00000349053:S129C;ENSP00000435306:S15C;ENSP00000442962:S32C;ENSP00000434805:S15C	ENSP00000340466:S129C	S	-	2	0	GANAB	62159043	1.000000	0.71417	0.976000	0.42696	0.959000	0.62525	6.426000	0.73374	2.749000	0.94314	0.655000	0.94253	TCT		0.463	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334		16	76	0	0	0	1	0	16	76		
SLC22A8	9376	broad.mit.edu	37	11	62763271	62763271	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:62763271C>T	ENST00000336232.2	-	7	1041	c.906G>A	c.(904-906)caG>caA	p.Q302Q	SLC22A8_ENST00000430500.2_Silent_p.Q302Q|SLC22A8_ENST00000545207.1_Silent_p.Q211Q|SLC22A8_ENST00000311438.8_Silent_p.Q302Q|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000535878.1_Silent_p.Q179Q	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	302					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AGATCTCCTTCTGCAGGTTGA	0.587																																						uc001nwo.2		NaN																	0				skin(2)|ovary(1)	3						c.(904-906)CAG>CAA		solute carrier family 22 member 8							137.0	128.0	131.0					11																	62763271		2201	4298	6499	SO:0001819	synonymous_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62763271C>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.906G>A	11.37:g.62763271C>T						SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Silent_p.Q302Q|SLC22A8_uc009yom.2_Silent_p.Q179Q|SLC22A8_uc010rmm.1_Silent_p.Q211Q|SLC22A8_uc009yon.2_Silent_p.Q302Q	p.Q302Q	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			7	1042	-			302			Cytoplasmic (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	c.906G>A	CCDS8042.1																																																																																				0.587	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1		NM_004254		22	84	0	0	0	1	0	22	84		
RTN3	10313	broad.mit.edu	37	11	63520106	63520106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:63520106G>C	ENST00000377819.5	+	5	3020	c.2866G>C	c.(2866-2868)Gac>Cac	p.D956H	RTN3_ENST00000540798.1_Missense_Mutation_p.D844H|RTN3_ENST00000537981.1_Missense_Mutation_p.D160H|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D937H|RTN3_ENST00000341307.2_Missense_Mutation_p.D160H|RTN3_ENST00000356000.3_Missense_Mutation_p.D179H	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	956	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGATCTGGTTGACTCCTTGAA	0.413																																						uc001nxq.2		NaN																	0				ovary(1)	1						c.(2866-2868)GAC>CAC		reticulon 3 isoform b							180.0	171.0	174.0					11																	63520106		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63520106G>C	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2866G>C	11.37:g.63520106G>C	ENSP00000367050:p.Asp956His					RTN3_uc001nxo.2_Missense_Mutation_p.D160H|RTN3_uc001nxm.2_Missense_Mutation_p.D179H|RTN3_uc001nxn.2_Missense_Mutation_p.D937H|RTN3_uc001nxp.2_Missense_Mutation_p.D160H|RTN3_uc009yov.2_Missense_Mutation_p.D844H|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	p.D956H	NM_201428	NP_958831	O95197	RTN3_HUMAN			5	3053	+			956			Helical; (Potential).|Reticulon.		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.2866G>C	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999280	0.93227	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	M	0.92077	3.27	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.998;0.999;0.999	T	0.82335	-0.0508	10	0.87932	D	0	-18.0557	17.1877	0.86870	0.0:0.0:1.0:0.0	.	844;956;160;160;937;179	F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;RTN3_HUMAN;.;.;.;.	H	160;179;956;937;844;160	ENSP00000340903:D160H;ENSP00000348279:D179H;ENSP00000367050:D956H;ENSP00000344106:D937H;ENSP00000442733:D844H;ENSP00000440874:D160H	ENSP00000344106:D937H	D	+	1	0	RTN3	63276682	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.605000	0.98321	2.660000	0.90430	0.455000	0.32223	GAC		0.413	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1		NM_006054		36	144	0	0	0	1	0	36	144		
C11orf84	144097	broad.mit.edu	37	11	63594565	63594565	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:63594565C>A	ENST00000294244.4	+	6	1399	c.1100C>A	c.(1099-1101)tCc>tAc	p.S367Y		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	367										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTGTCAGAATCCAGCACCACT	0.612																																						uc001nxt.2		NaN																	0					0						c.(1099-1101)TCC>TAC		hypothetical protein LOC144097							64.0	55.0	58.0					11																	63594565		2201	4298	6499	SO:0001583	missense	144097							g.chr11:63594565C>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.1100C>A	11.37:g.63594565C>A	ENSP00000294244:p.Ser367Tyr					C11orf84_uc001nxu.1_RNA	p.S367Y	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN			6	1336	+			367					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.1100C>A	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711349	0.48517	.	.	ENSG00000168005	ENST00000294244	T	0.53206	0.63	5.66	5.66	0.87406	.	1.296880	0.04910	N	0.453044	T	0.65739	0.2720	L	0.50333	1.59	0.38210	D	0.940459	D	0.58620	0.983	P	0.60415	0.874	T	0.52358	-0.8586	10	0.87932	D	0	-18.843	15.2482	0.73523	0.0:1.0:0.0:0.0	.	367	Q9BUA3	CK084_HUMAN	Y	367	ENSP00000294244:S367Y	ENSP00000294244:S367Y	S	+	2	0	C11orf84	63351141	0.901000	0.30685	0.998000	0.56505	0.204000	0.24138	3.464000	0.53057	2.668000	0.90789	0.655000	0.94253	TCC		0.612	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1		NM_138471		8	33	1	0	0.000157383	1	0.00016281	8	33		
PLCB3	5331	broad.mit.edu	37	11	64033997	64033997	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:64033997C>T	ENST00000540288.1	+	29	3490	c.3387C>T	c.(3385-3387)atC>atT	p.I1129I	PLCB3_ENST00000325234.5_Silent_p.I1062I|PLCB3_ENST00000279230.6_Silent_p.I1129I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1129					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTCGGCACATCACTGAGTCAG	0.632																																						uc001nzb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(3385-3387)ATC>ATT		phospholipase C beta 3							116.0	103.0	108.0					11																	64033997		2201	4297	6498	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033997C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3387C>T	11.37:g.64033997C>T						PLCB3_uc009ypg.1_Silent_p.I1129I|PLCB3_uc009yph.1_Silent_p.I1062I|PLCB3_uc009ypi.2_Silent_p.I1129I	p.I1129I	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			29	3387	+			1129					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.3387C>T	CCDS8064.1																																																																																				0.632	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				16	36	0	0	0	1	0	16	36		
MEN1	4221	broad.mit.edu	37	11	64573830	64573830	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:64573830G>A	ENST00000337652.1	-	7	1441	c.938C>T	c.(937-939)tCa>tTa	p.S313L	MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000443283.1_Missense_Mutation_p.S313L|MEN1_ENST00000312049.6_Missense_Mutation_p.S308L|MEN1_ENST00000377316.2_Missense_Mutation_p.S308L|MEN1_ENST00000377321.1_Missense_Mutation_p.S273L|MEN1_ENST00000394374.2_Missense_Mutation_p.S313L|MEN1_ENST00000315422.4_Missense_Mutation_p.S308L|MEN1_ENST00000377326.3_Missense_Mutation_p.S308L|MEN1_ENST00000377313.1_Missense_Mutation_p.S313L|MEN1_ENST00000394376.1_Missense_Mutation_p.S313L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	313	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGTCTTGGCTGAGGCAATGCC	0.622			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.2		NaN	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		0				parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238	GRCh37	CM970932	MEN1	M		c.(937-939)TCA>TTA		menin isoform 1							223.0	201.0	208.0					11																	64573830		2201	4297	6498	SO:0001583	missense	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64573830G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.938C>T	11.37:g.64573830G>A	ENSP00000337088:p.Ser313Leu		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	MEN1_uc001obk.2_Missense_Mutation_p.S313L|MEN1_uc001obl.2_Missense_Mutation_p.S273L|MEN1_uc001obm.2_Missense_Mutation_p.S308L|MEN1_uc001obn.2_Missense_Mutation_p.S313L|MEN1_uc001obo.2_Missense_Mutation_p.S313L|MEN1_uc001obp.2_Missense_Mutation_p.S308L|MEN1_uc001obq.2_Missense_Mutation_p.S313L|MEN1_uc001obr.2_Missense_Mutation_p.S313L	p.S313L	NM_130800	NP_570712	O00255	MEN1_HUMAN			7	1011	-			313			Interaction with FANCD2.		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.938C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185621	0.78677	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873	D;D;D;D;D;D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	3.92	3.92	0.45320	.	0.000000	0.64402	U	0.000002	D	0.99020	0.9665	L	0.59436	1.845	0.80722	D	1	P;P;P	0.48694	0.831;0.914;0.86	B;P;P	0.49451	0.384;0.611;0.519	D	0.98829	1.0750	10	0.72032	D	0.01	-6.609	13.8807	0.63680	0.0:0.0:1.0:0.0	.	308;273;313	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	L	308;273;308;308;308;313;313;313;313;313;308	ENSP00000366533:S308L;ENSP00000366538:S273L;ENSP00000366543:S308L;ENSP00000308975:S308L;ENSP00000323747:S308L;ENSP00000337088:S313L;ENSP00000377901:S313L;ENSP00000377899:S313L;ENSP00000396940:S313L;ENSP00000366530:S313L;ENSP00000413944:S308L	ENSP00000308975:S308L	S	-	2	0	MEN1	64330406	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.771000	0.74996	1.927000	0.55829	0.456000	0.33151	TCA		0.622	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1				42	78	0	0	0	1	0	42	78		
LTBP3	4054	broad.mit.edu	37	11	65325173	65325173	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:65325173C>G	ENST00000301873.5	-	1	526	c.258G>C	c.(256-258)caG>caC	p.Q86H	LTBP3_ENST00000536982.1_5'UTR|LTBP3_ENST00000322147.4_Missense_Mutation_p.Q86H	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	86	Gly-rich.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTTGGAGCCCTGCTGACAAC	0.692																																						uc001oej.2		NaN																	0				central_nervous_system(2)|lung(1)	3						c.(256-258)CAG>CAC		latent transforming growth factor beta binding							66.0	56.0	59.0					11																	65325173		2200	4297	6497	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65325173C>G	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.258G>C	11.37:g.65325173C>G	ENSP00000301873:p.Gln86His					LTBP3_uc010roi.1_5'UTR|LTBP3_uc001oei.2_Missense_Mutation_p.Q86H|LTBP3_uc010roj.1_Missense_Mutation_p.Q72H|LTBP3_uc010rok.1_5'UTR	p.Q86H	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			1	527	-			86			Gly-rich.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.258G>C	CCDS44647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.24|16.24	3.068141|3.068141	0.55539|0.55539	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000526927|ENST00000322147;ENST00000301873	.|T;D	.|0.81821	.|-1.46;-1.54	4.07|4.07	2.05|2.05	0.26809|0.26809	.|.	.|0.247838	.|0.33272	.|N	.|0.005087	T|T	0.63827|0.63827	0.2544|0.2544	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12013	.|0.005;0.0	.|B;B	.|0.08055	.|0.003;0.002	T|T	0.54754|0.54754	-0.8246|-0.8246	5|10	.|0.59425	.|D	.|0.04	.|.	6.2304|6.2304	0.20732|0.20732	0.0:0.524:0.3718:0.1042|0.0:0.524:0.3718:0.1042	.|.	.|86;86	.|Q9NS15;Q9NS15-2	.|LTBP3_HUMAN;.	R|H	22|86	.|ENSP00000326647:Q86H;ENSP00000301873:Q86H	.|ENSP00000301873:Q86H	G|Q	-|-	1|3	0|2	LTBP3|LTBP3	65081749|65081749	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.769000|1.769000	0.38522|0.38522	0.261000|0.261000	0.21753|0.21753	0.561000|0.561000	0.74099|0.74099	GGG|CAG		0.692	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1		NM_021070		6	71	0	0	0	1	0	6	71		
PACS1	55690	broad.mit.edu	37	11	65998061	65998061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:65998061C>G	ENST00000320580.4	+	12	1450	c.1417C>G	c.(1417-1419)Ctg>Gtg	p.L473V	PACS1_ENST00000529757.1_Missense_Mutation_p.L9V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	473					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CAGCACGAGTCTGGTTGTGCC	0.542																																						uc001oha.1		NaN																	0				ovary(6)	6						c.(1417-1419)CTG>GTG		phosphofurin acidic cluster sorting protein 1							104.0	99.0	101.0					11																	65998061		2200	4295	6495	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65998061C>G	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1417C>G	11.37:g.65998061C>G	ENSP00000316454:p.Leu473Val					PACS1_uc010rou.1_Missense_Mutation_p.L9V	p.L473V	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			12	1551	+			473					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.1417C>G	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	8.683	0.905610	0.17760	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	T;T	0.42131	2.26;0.98	4.43	3.49	0.39957	.	0.760340	0.11947	N	0.514110	T	0.25494	0.0620	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09552	-1.0669	10	0.16896	T	0.51	-14.6448	7.2344	0.26062	0.0:0.8101:0.0:0.1899	.	473	Q6VY07	PACS1_HUMAN	V	473;9	ENSP00000316454:L473V;ENSP00000432858:L9V	ENSP00000316454:L473V	L	+	1	2	PACS1	65754637	0.997000	0.39634	1.000000	0.80357	0.607000	0.37147	1.191000	0.32138	2.300000	0.77407	0.511000	0.50034	CTG		0.542	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2		NM_018026		9	52	0	0	0	1	0	9	52		
RBM4B	83759	broad.mit.edu	37	11	66444533	66444533	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66444533G>A	ENST00000525754.1	-	1	686	c.18C>T	c.(16-18)atC>atT	p.I6I	RBM4B_ENST00000531036.2_Silent_p.I6I|RBM4B_ENST00000531969.1_Silent_p.I6I|RBM4B_ENST00000310046.4_Silent_p.I6I|RBM4B_ENST00000524637.1_Silent_p.I6I			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	6	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						GAAGGTTTCCGATGAACAGCT	0.502																																						uc001oja.2		NaN																	0					0						c.(16-18)ATC>ATT		RNA binding motif protein 4B							95.0	92.0	93.0					11																	66444533		2200	4295	6495	SO:0001819	synonymous_variant	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66444533G>A	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.18C>T	11.37:g.66444533G>A						RBM4B_uc001ojb.2_Silent_p.I6I	p.I6I	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN			1	687	-			6			RRM 1.		B3KT83	Silent	SNP	ENST00000525754.1	37	c.18C>T	CCDS8149.1																																																																																				0.502	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1		NM_031492		21	139	0	0	0	1	0	21	139		
SPTBN2	6712	broad.mit.edu	37	11	66466202	66466202	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66466202C>T	ENST00000533211.1	-	20	4253	c.3922G>A	c.(3922-3924)Gag>Aag	p.E1308K	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1308K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1308K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1308					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTGCGGGCCTCGTCATAGGAC	0.562																																						uc001ojd.2		NaN																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(3922-3924)GAG>AAG		spectrin, beta, non-erythrocytic 2							102.0	93.0	96.0					11																	66466202		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66466202C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3922G>A	11.37:g.66466202C>T	ENSP00000432568:p.Glu1308Lys						p.E1308K	NM_006946	NP_008877	O15020	SPTN2_HUMAN			19	3994	-			1308			Spectrin 10.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3922G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381492	0.95945	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35421	1.31;1.31;1.31	4.72	4.72	0.59763	.	0.059560	0.64402	D	0.000004	T	0.65238	0.2672	M	0.88310	2.945	0.80722	D	1	D	0.69078	0.997	D	0.67548	0.952	T	0.73193	-0.4060	10	0.66056	D	0.02	.	16.6316	0.85035	0.0:1.0:0.0:0.0	.	1308	O15020	SPTN2_HUMAN	K	1308	ENSP00000432568:E1308K;ENSP00000311489:E1308K;ENSP00000433593:E1308K	ENSP00000311489:E1308K	E	-	1	0	SPTBN2	66222778	1.000000	0.71417	0.973000	0.42090	0.895000	0.52256	7.604000	0.82830	2.445000	0.82738	0.655000	0.94253	GAG		0.562	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2		NM_006946		12	69	0	0	0	1	0	12	69		
LRFN4	78999	broad.mit.edu	37	11	66627177	66627177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627177C>A	ENST00000309602.4	+	2	1662	c.1419C>A	c.(1417-1419)tgC>tgA	p.C473*	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	473	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						ATGACCTCTGCCTGCTGGCCT	0.687																																						uc001ojr.2		NaN																	0					0						c.(1417-1419)TGC>TGA		leucine rich repeat and fibronectin type III							42.0	35.0	37.0					11																	66627177		2198	4295	6493	SO:0001587	stop_gained	78999					integral to membrane		g.chr11:66627177C>A	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1419C>A	11.37:g.66627177C>A	ENSP00000312535:p.Cys473*					PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	p.C473*	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			2	1759	+			473			Extracellular (Potential).|Fibronectin type-III.		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Nonsense_Mutation	SNP	ENST00000309602.4	37	c.1419C>A	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	C	38	7.004373	0.97994	.	.	ENSG00000173621	ENST00000309602	.	.	.	4.86	3.89	0.44902	.	0.000000	0.49305	D	0.000153	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5026	0.44815	0.0:0.897:0.0:0.103	.	.	.	.	X	473	.	ENSP00000312535:C473X	C	+	3	2	LRFN4	66383753	0.921000	0.31238	1.000000	0.80357	0.992000	0.81027	0.104000	0.15313	0.937000	0.37394	0.462000	0.41574	TGC		0.687	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1		NM_024036		8	20	1	0	1.12685e-05	1	1.18122e-05	8	20		
LRFN4	78999	broad.mit.edu	37	11	66627252	66627252	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627252C>A	ENST00000309602.4	+	2	1737	c.1494C>A	c.(1492-1494)tcC>tcA	p.S498S	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	498	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CCCATTTCTCCACGCTGCCGG	0.716																																						uc001ojr.2		NaN																	0					0						c.(1492-1494)TCC>TCA		leucine rich repeat and fibronectin type III							30.0	25.0	27.0					11																	66627252		2190	4287	6477	SO:0001819	synonymous_variant	78999					integral to membrane		g.chr11:66627252C>A	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1494C>A	11.37:g.66627252C>A						PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	p.S498S	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			2	1834	+			498			Extracellular (Potential).		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Silent	SNP	ENST00000309602.4	37	c.1494C>A	CCDS8153.1																																																																																				0.716	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1		NM_024036		6	12	1	0	0.00116845	1	0.00119403	6	12		
LRFN4	78999	broad.mit.edu	37	11	66627354	66627354	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627354C>G	ENST00000309602.4	+	2	1839	c.1596C>G	c.(1594-1596)gtC>gtG	p.V532V	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	532						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CCTTACTGGTCTTCACTGTGG	0.721																																						uc001ojr.2		NaN																	0					0						c.(1594-1596)GTC>GTG		leucine rich repeat and fibronectin type III							36.0	29.0	31.0					11																	66627354		2191	4284	6475	SO:0001819	synonymous_variant	78999					integral to membrane		g.chr11:66627354C>G	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1596C>G	11.37:g.66627354C>G						PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	p.V532V	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			2	1936	+			532			Helical; (Potential).		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Silent	SNP	ENST00000309602.4	37	c.1596C>G	CCDS8153.1																																																																																				0.721	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1		NM_024036		9	25	0	0	0	1	0	9	25		
LRFN4	78999	broad.mit.edu	37	11	66627411	66627411	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627411C>G	ENST00000309602.4	+	2	1896	c.1653C>G	c.(1651-1653)ctC>ctG	p.L551L	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	551						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GCCTCCCCCTCAAGCTCAGCC	0.726																																						uc001ojr.2		NaN																	0					0						c.(1651-1653)CTC>CTG		leucine rich repeat and fibronectin type III							18.0	17.0	17.0					11																	66627411		2173	4260	6433	SO:0001819	synonymous_variant	78999					integral to membrane		g.chr11:66627411C>G	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1653C>G	11.37:g.66627411C>G						PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	p.L551L	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			2	1993	+			551			Cytoplasmic (Potential).		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Silent	SNP	ENST00000309602.4	37	c.1653C>G	CCDS8153.1																																																																																				0.726	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1		NM_024036		10	19	0	0	0	1	0	10	19		
NDUFV1	4723	broad.mit.edu	37	11	67377958	67377958	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:67377958G>C	ENST00000322776.6	+	5	770	c.617G>C	c.(616-618)tGt>tCt	p.C206S	NDUFV1_ENST00000415352.2_Missense_Mutation_p.C199S|NDUFV1_ENST00000532303.1_Missense_Mutation_p.C105S|NDUFV1_ENST00000526169.1_3'UTR|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000529927.1_Missense_Mutation_p.C197S	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	206					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GCCTACATCTGTGGAGAGGAG	0.602																																						uc001omj.2		NaN																	0				skin(1)	1						c.(616-618)TGT>TCT		NADH dehydrogenase ubiquinone flavoprotein 1	NADH(DB00157)						133.0	117.0	122.0					11																	67377958		2200	4294	6494	SO:0001583	missense	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67377958G>C	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.617G>C	11.37:g.67377958G>C	ENSP00000322450:p.Cys206Ser					NDUFV1_uc010rpv.1_Missense_Mutation_p.C105S|NDUFV1_uc001oml.2_Missense_Mutation_p.C199S|NDUFV1_uc001omk.3_Missense_Mutation_p.C197S|NDUFV1_uc009yrz.1_Missense_Mutation_p.C105S|NDUFV1_uc010rpw.1_5'Flank	p.C206S	NM_007103	NP_009034	P49821	NDUV1_HUMAN			5	770	+			206			FMN (By similarity).		O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	c.617G>C	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476364	0.84640	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000415352	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	4.42	4.42	0.53409	NADH:ubiquinone oxidoreductase, 51kDa subunit, conserved site (1);NADH:ubiquinone oxidoreductase, 51kDa subunit (1);	0.000000	0.85682	D	0.000000	D	0.93993	0.8076	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	0.97;0.994;0.994;1.0	D;P;P;D	0.91635	0.913;0.858;0.858;0.999	D	0.95066	0.8200	10	0.87932	D	0	-18.7396	15.7615	0.78082	0.0:0.0:1.0:0.0	.	105;199;197;206	B4DE93;G3V0I5;P49821-2;P49821	.;.;.;NDUV1_HUMAN	S	206;105;105;197;199	ENSP00000322450:C206S;ENSP00000432015:C105S;ENSP00000435202:C105S;ENSP00000436766:C197S;ENSP00000395368:C199S	ENSP00000322450:C206S	C	+	2	0	NDUFV1	67134534	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.503000	0.97984	2.285000	0.76669	0.561000	0.74099	TGT		0.602	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1		NM_007103		44	106	0	0	0	1	0	44	106		
KRTAP5-7	440050	broad.mit.edu	37	11	71238672	71238672	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:71238672C>G	ENST00000398536.4	+	1	360	c.326C>G	c.(325-327)tCa>tGa	p.S109*		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	109	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						ggctgtgggtcatcctgctgc	0.622																																						uc001oqq.1		NaN																	0					0						c.(325-327)TCA>TGA		keratin associated protein 5-7							77.0	93.0	88.0					11																	71238672		2200	4294	6494	SO:0001587	stop_gained	440050					keratin filament		g.chr11:71238672C>G	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.326C>G	11.37:g.71238672C>G	ENSP00000417330:p.Ser109*						p.S109*	NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN			1	360	+			109			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Nonsense_Mutation	SNP	ENST00000398536.4	37	c.326C>G	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	11.46	1.645218	0.29246	.	.	ENSG00000244411	ENST00000398536	.	.	.	1.66	0.446	0.16602	.	.	.	.	.	.	.	.	.	.	.	0.30271	N	0.792286	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.5251	0.11978	0.6213:0.3787:0.0:0.0	.	.	.	.	X	109	.	ENSP00000417330:S109X	S	+	2	0	KRTAP5-7	70916320	0.031000	0.19500	0.003000	0.11579	0.081000	0.17604	0.279000	0.18771	0.126000	0.18424	0.281000	0.19383	TCA		0.622	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1				71	198	0	0	0	1	0	71	198		
NUMA1	4926	broad.mit.edu	37	11	71726869	71726869	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:71726869C>G	ENST00000393695.3	-	15	2011	c.1680G>C	c.(1678-1680)ctG>ctC	p.L560L	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.L560L|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCTTCTGCTTCAGGCTACTGC	0.612			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001orl.1		NaN		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(1678-1680)CTG>CTC		nuclear mitotic apparatus protein 1							148.0	147.0	147.0					11																	71726869		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71726869C>G	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1680G>C	11.37:g.71726869C>G			OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1132	NUMA1_uc009ysw.1_Silent_p.L123L|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.L560L|NUMA1_uc001orn.2_Silent_p.L123L|NUMA1_uc009ysx.1_Silent_p.L560L|NUMA1_uc001oro.1_Silent_p.L560L	p.L560L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	1852	-			560			Potential.			Silent	SNP	ENST00000393695.3	37	c.1680G>C	CCDS31633.1																																																																																				0.612	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1				26	150	0	0	0	1	0	26	150		
STARD10	10809	broad.mit.edu	37	11	72466776	72466776	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:72466776C>T	ENST00000334805.6	-	6	1519	c.600G>A	c.(598-600)gtG>gtA	p.V200V	STARD10_ENST00000543304.1_Silent_p.V200V|STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000538536.1_Silent_p.V154V|STARD10_ENST00000545082.1_Silent_p.V171V|ARAP1_ENST00000359373.5_Intron	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	200	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AAGATTTATTCACCACCCACT	0.592																																						uc001osy.2		NaN																	0					0						c.(598-600)GTG>GTA		START domain containing 10							59.0	64.0	62.0					11																	72466776		1916	4130	6046	SO:0001819	synonymous_variant	10809							g.chr11:72466776C>T	AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"""StAR-related lipid transfer (START) domain containing"""	10666	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 28"", ""START domain containing 10"""	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.600G>A	11.37:g.72466776C>T						ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Silent_p.V200V|STARD10_uc001ota.2_Silent_p.V154V|STARD10_uc001otb.2_Silent_p.V200V	p.V200V	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.08e-07)		6	891	-			200			START.		O60532	Silent	SNP	ENST00000334805.6	37	c.600G>A	CCDS41688.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315866	0.23908	.	.	ENSG00000214530	ENST00000400925	.	.	.	5.19	4.22	0.49857	.	.	.	.	.	T	0.64080	0.2566	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62431	-0.6856	4	.	.	.	-11.5611	12.8284	0.57733	0.0:0.7055:0.2945:0.0	.	.	.	.	K	47	.	.	E	-	1	0	STARD10	72144424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.482000	0.45224	2.417000	0.82017	0.491000	0.48974	GAA		0.592	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397254.1				13	35	0	0	0	1	0	13	35		
UCP2	7351	broad.mit.edu	37	11	73686631	73686631	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:73686631C>T	ENST00000310473.3	-	7	1562	c.720G>A	c.(718-720)acG>acA	p.T240T	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Intron	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	240					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					TCATGTATCTCGTCTTGACCA	0.592																																					Colon(191;388 2040 43557 45622 48925)	uc001oup.1		NaN																	0					0						c.(718-720)ACG>ACA		uncoupling protein 2							126.0	111.0	116.0					11																	73686631		2200	4293	6493	SO:0001819	synonymous_variant	7351				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73686631C>T	U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.720G>A	11.37:g.73686631C>T						UCP2_uc001ouq.1_Intron	p.T240T	NM_003355	NP_003346	P55851	UCP2_HUMAN			7	1100	-	Breast(11;0.000112)		240			Solcar 3.		Q4PJH8|Q53HM3	Silent	SNP	ENST00000310473.3	37	c.720G>A	CCDS8228.1																																																																																				0.592	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1		NM_003355		31	101	0	0	0	1	0	31	101		
CAPN5	726	broad.mit.edu	37	11	76825378	76825378	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:76825378G>C	ENST00000278559.3	+	5	786	c.597G>C	c.(595-597)ctG>ctC	p.L199L	CAPN5_ENST00000529629.1_Silent_p.L199L|CAPN5_ENST00000456580.2_Silent_p.L239L|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	199	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CCATCGACCTGACCGAGGGTG	0.582											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oxx.2		NaN																	0					0						c.(595-597)CTG>CTC		calpain 5							278.0	258.0	264.0					11																	76825378		2200	4292	6492	SO:0001819	synonymous_variant	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76825378G>C		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.597G>C	11.37:g.76825378G>C			OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	CAPN5_uc009yup.2_Silent_p.L239L|CAPN5_uc009yuq.2_Silent_p.L235L|CAPN5_uc001oxy.2_Silent_p.L239L	p.L199L	NM_004055	NP_004046	O15484	CAN5_HUMAN			5	782	+			199			Calpain catalytic.		O00263	Silent	SNP	ENST00000278559.3	37	c.597G>C	CCDS8248.1																																																																																				0.582	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2		NM_004055		44	309	0	0	0	1	0	44	309		
MYO7A	4647	broad.mit.edu	37	11	76869381	76869381	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:76869381C>T	ENST00000409709.3	+	9	1180	c.908C>T	c.(907-909)tCc>tTc	p.S303F	MYO7A_ENST00000409893.1_Missense_Mutation_p.S303F|MYO7A_ENST00000409619.2_Missense_Mutation_p.S292F|MYO7A_ENST00000458637.2_Missense_Mutation_p.S303F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	303	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AACATCCGCTCCGCCATGAAG	0.607																																						uc001oyb.2		NaN																	0				ovary(3)|breast(1)	4						c.(907-909)TCC>TTC		myosin VIIA isoform 1							50.0	56.0	54.0					11																	76869381		2149	4251	6400	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76869381C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.908C>T	11.37:g.76869381C>T	ENSP00000386331:p.Ser303Phe					MYO7A_uc010rsl.1_Missense_Mutation_p.S303F|MYO7A_uc010rsm.1_Missense_Mutation_p.S292F|MYO7A_uc001oyc.2_Missense_Mutation_p.S303F	p.S303F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			9	1180	+			303			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.908C>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838201	0.91117	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.72	5.72	0.89469	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	M	0.87827	2.91	0.80722	D	1	D;D;P	0.61080	0.967;0.989;0.94	D;D;D	0.64877	0.918;0.93;0.928	D	0.95359	0.8454	10	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	303;303;303	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	F	303;303;303;292;302;302;302	ENSP00000386331:S303F;ENSP00000386689:S303F;ENSP00000392185:S303F;ENSP00000386635:S292F	ENSP00000340325:S302F	S	+	2	0	MYO7A	76547029	1.000000	0.71417	0.916000	0.36221	0.926000	0.56050	6.008000	0.70739	2.711000	0.92665	0.655000	0.94253	TCC		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1		NM_000260		12	33	0	0	0	1	0	12	33		
AQP11	282679	broad.mit.edu	37	11	77301476	77301476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:77301476C>T	ENST00000313578.3	+	1	797	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	147					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.H147Y(1)		kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GACCCAGTATCACGTCAGCGA	0.592																																						uc001oyj.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(439-441)CAC>TAC		aquaporin 11							98.0	80.0	87.0					11																	77301476		2200	4292	6492	SO:0001583	missense	282679					cell surface|integral to membrane	transporter activity	g.chr11:77301476C>T	AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.439C>T	11.37:g.77301476C>T	ENSP00000318770:p.His147Tyr					AQP11_uc009yuu.2_Intron	p.H147Y	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		1	797	+	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		147						Missense_Mutation	SNP	ENST00000313578.3	37	c.439C>T	CCDS8251.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215919	0.79352	.	.	ENSG00000178301	ENST00000313578	D	0.84370	-1.84	5.54	5.54	0.83059	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.91392	0.7284	M	0.80982	2.52	0.54753	D	0.999989	D	0.89917	1.0	D	0.83275	0.996	D	0.89427	0.3714	10	0.25751	T	0.34	-18.8252	12.7803	0.57472	0.0:0.9252:0.0:0.0748	.	147	Q8NBQ7	AQP11_HUMAN	Y	147	ENSP00000318770:H147Y	ENSP00000318770:H147Y	H	+	1	0	AQP11	76979124	0.999000	0.42202	0.974000	0.42286	0.772000	0.43724	4.632000	0.61311	2.606000	0.88127	0.491000	0.48974	CAC		0.592	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382582.1		NM_173039		30	54	0	0	0	1	0	30	54		
NARS2	79731	broad.mit.edu	37	11	78270590	78270590	+	Missense_Mutation	SNP	G	G	C	rs34384168		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:78270590G>C	ENST00000281038.5	-	5	964	c.589C>G	c.(589-591)Ctt>Gtt	p.L197V	NARS2_ENST00000528850.1_5'UTR|RP11-843A23.1_ENST00000526976.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	197					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CTTACTTCAAGTTGAAAAAGT	0.353																																						uc001ozi.2		NaN																	0				ovary(2)	2						c.(589-591)CTT>GTT		asparaginyl-tRNA synthetase 2, mitochondrial	L-Asparagine(DB00174)						144.0	142.0	143.0					11																	78270590		2200	4292	6492	SO:0001583	missense	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78270590G>C	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.589C>G	11.37:g.78270590G>C	ENSP00000281038:p.Leu197Val					NARS2_uc010rsq.1_5'UTR	p.L197V	NM_024678	NP_078954	Q96I59	SYNM_HUMAN			5	965	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		197					G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	c.589C>G	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	G	1.420	-0.573007	0.03882	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.72942	-0.7;-0.7	5.57	2.71	0.32032	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.193952	0.44902	N	0.000407	T	0.27663	0.0680	N	0.00355	-1.605	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37820	-0.9689	10	0.02654	T	1	-5.7619	7.8179	0.29271	0.0:0.7079:0.1405:0.1517	.	197	Q96I59	SYNM_HUMAN	V	197	ENSP00000281038:L197V;ENSP00000432240:L197V	ENSP00000281038:L197V	L	-	1	0	NARS2	77948238	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	1.636000	0.37144	0.311000	0.23014	-1.097000	0.02148	CTT		0.353	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2		NM_024678		26	142	0	0	0	1	0	26	142		
TENM4	26011	broad.mit.edu	37	11	78433937	78433937	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:78433937C>G	ENST00000278550.7	-	24	4038	c.3576G>C	c.(3574-3576)gaG>gaC	p.E1192D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1192					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CAAACTGGTTCTCCCCATTCC	0.552																																						uc001ozl.3		NaN																	0				ovary(2)|pancreas(2)	4						c.(3574-3576)GAG>GAC		odz, odd Oz/ten-m homolog 4							67.0	72.0	70.0					11																	78433937		2015	4181	6196	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78433937C>G	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3576G>C	11.37:g.78433937C>G	ENSP00000278550:p.Glu1192Asp						p.E1192D	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			24	4039	-			1192			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3576G>C	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110893	0.77210	.	.	ENSG00000149256	ENST00000278550	D	0.90385	-2.66	5.6	2.71	0.32032	.	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.76838	2.35	0.49915	D	0.999835	D	0.64830	0.994	D	0.70716	0.97	D	0.92270	0.5824	9	.	.	.	.	8.7258	0.34469	0.0:0.6595:0.0:0.3405	.	1192	Q6N022	TEN4_HUMAN	D	1192	ENSP00000278550:E1192D	.	E	-	3	2	ODZ4	78111585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.399000	0.44495	0.938000	0.37419	0.644000	0.83932	GAG		0.552	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2				24	33	0	0	0	1	0	24	33		
NAALAD2	10003	broad.mit.edu	37	11	89885637	89885637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:89885637G>A	ENST00000534061.1	+	6	1011	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	NAALAD2_ENST00000375944.3_Missense_Mutation_p.G261S|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G261S|NAALAD2_ENST00000525171.1_Missense_Mutation_p.G261S	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	261					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTCACTCCAGGCTATCCAGC	0.448																																						uc001pdf.3		NaN																	0				pancreas(1)|skin(1)	2						c.(781-783)GGC>AGC		N-acetylated alpha-linked acidic dipeptidase 2							67.0	64.0	65.0					11																	89885637		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89885637G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.781G>A	11.37:g.89885637G>A	ENSP00000432481:p.Gly261Ser					NAALAD2_uc009yvx.2_Missense_Mutation_p.G261S|NAALAD2_uc009yvy.2_Missense_Mutation_p.G261S|NAALAD2_uc001pdd.2_Missense_Mutation_p.G261S|NAALAD2_uc001pde.2_Missense_Mutation_p.G261S	p.G261S	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			6	890	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	261			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.781G>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726297	0.89298	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T	0.63913	0.62;0.62;-0.07;0.62	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	H	0.98089	4.145	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.971;0.997;1.0;0.999	D;P;D;D;D	0.91635	0.977;0.857;0.925;0.999;0.937	D	0.92353	0.5891	9	.	.	.	-12.064	18.7686	0.91882	0.0:0.0:1.0:0.0	.	261;261;261;261;261	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	S	261	ENSP00000432481:G261S;ENSP00000320083:G261S;ENSP00000435249:G261S;ENSP00000365111:G261S	.	G	+	1	0	NAALAD2	89525285	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.091000	0.94151	2.435000	0.82474	0.655000	0.94253	GGC		0.448	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2		NM_005467		16	33	0	0	0	1	0	16	33		
CCDC67	159989	broad.mit.edu	37	11	93097339	93097339	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:93097339C>G	ENST00000298050.3	+	5	411	c.311C>G	c.(310-312)aCa>aGa	p.T104R		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	104					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TCCAAACTAACAAATAACTTT	0.303																																						uc001pdq.2		NaN																	0				ovary(1)	1						c.(310-312)ACA>AGA		coiled-coil domain containing 67							43.0	39.0	40.0					11																	93097339		1792	4053	5845	SO:0001583	missense	159989							g.chr11:93097339C>G	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.311C>G	11.37:g.93097339C>G	ENSP00000298050:p.Thr104Arg					CCDC67_uc001pdo.1_Missense_Mutation_p.T104R|CCDC67_uc001pdp.2_Missense_Mutation_p.T104R	p.T104R	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			5	411	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	104			Potential.		Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.311C>G	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883579	0.51908	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819	T;T;T	0.22134	1.97;1.97;1.97	5.53	5.53	0.82687	.	0.077561	0.53938	D	0.000052	T	0.34221	0.0890	L	0.45581	1.43	0.39426	D	0.966991	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.67103	0.929;0.949;0.949	T	0.03728	-1.1009	10	0.15499	T	0.54	.	12.9576	0.58438	0.0:0.923:0.0:0.077	.	104;104;96	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	R	104	ENSP00000432111:T104R;ENSP00000298050:T104R;ENSP00000434635:T104R	ENSP00000298050:T104R	T	+	2	0	CCDC67	92736987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.153000	0.50685	2.614000	0.88457	0.591000	0.81541	ACA		0.303	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_181645		5	25	0	0	0	1	0	5	25		
PIWIL4	143689	broad.mit.edu	37	11	94328539	94328539	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:94328539C>G	ENST00000299001.6	+	10	1426	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	405					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGACACGTCTCAGTCCTTCAG	0.502																																						uc001pfa.2		NaN																	0				skin(1)	1						c.(1213-1215)CTC>CTG		piwi-like 4							106.0	98.0	100.0					11																	94328539		2201	4298	6499	SO:0001819	synonymous_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94328539C>G	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1215C>G	11.37:g.94328539C>G						PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	p.L405L	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			10	1426	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	405					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.1215C>G	CCDS31656.1																																																																																				0.502	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1		NM_152431		19	116	0	0	0	1	0	19	116		
JRKL	8690	broad.mit.edu	37	11	96124003	96124003	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:96124003C>G	ENST00000332349.4	+	2	437	c.190C>G	c.(190-192)Ctt>Gtt	p.L64V	CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.L64V|CCDC82_ENST00000278520.5_5'Flank|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	64					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		TTCCACAAGTCTTTTGGCCAA	0.398																																						uc009ywu.2		NaN																	0					0						c.(190-192)CTT>GTT		jerky homolog-like							74.0	73.0	73.0					11																	96124003		2201	4298	6499	SO:0001583	missense	8690				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:96124003C>G	AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.190C>G	11.37:g.96124003C>G	ENSP00000333350:p.Leu64Val					CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.L64V	p.L64V	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.148)	2	442	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	64					A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	c.190C>G	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412811	0.25465	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.24350	1.86;1.86	4.64	2.59	0.31030	Homeodomain-like (1);	0.000000	0.35585	N	0.003105	T	0.15305	0.0369	L	0.38175	1.15	0.26118	N	0.980594	P	0.47762	0.9	B	0.37833	0.259	T	0.15665	-1.0429	10	0.11794	T	0.64	-12.0291	10.4415	0.44469	0.0:0.6139:0.3861:0.0	.	64	Q9Y4A0	JERKL_HUMAN	V	64	ENSP00000333350:L64V;ENSP00000389989:L64V	ENSP00000333350:L64V	L	+	1	0	JRKL	95763651	0.991000	0.36638	0.997000	0.53966	0.987000	0.75469	2.703000	0.47110	0.934000	0.37316	0.400000	0.26472	CTT		0.398	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2		NM_003772		18	104	0	0	0	1	0	18	104		
CNTN5	53942	broad.mit.edu	37	11	99827554	99827554	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:99827554G>T	ENST00000524871.1	+	8	980	c.690G>T	c.(688-690)tgG>tgT	p.W230C	CNTN5_ENST00000528682.1_Missense_Mutation_p.W230C|CNTN5_ENST00000418526.2_Missense_Mutation_p.W156C|CNTN5_ENST00000279463.3_Missense_Mutation_p.W230C|CNTN5_ENST00000527185.1_Missense_Mutation_p.W230C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	230	Ig-like C2-type 2.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTATAGCTGGGTATTTAATG	0.393																																						uc001pga.2		NaN																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(688-690)TGG>TGT		contactin 5 isoform long							90.0	83.0	85.0					11																	99827554		1836	4084	5920	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99827554G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.690G>T	11.37:g.99827554G>T	ENSP00000435637:p.Trp230Cys					CNTN5_uc009ywv.1_Missense_Mutation_p.W230C|CNTN5_uc001pfz.2_Missense_Mutation_p.W230C|CNTN5_uc001pgb.2_Missense_Mutation_p.W156C	p.W230C	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	8	1029	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	230			Ig-like C2-type 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.690G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743105	0.69418	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	5.47	5.47	0.80525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.138580	0.56097	D	0.000030	D	0.99121	0.9697	H	0.97491	4.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99123	1.0850	10	0.87932	D	0	.	18.6577	0.91460	0.0:0.0:1.0:0.0	.	230;156;230	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	C	230;230;230;156;230	ENSP00000433575:W230C;ENSP00000436185:W230C;ENSP00000435637:W230C;ENSP00000393229:W156C;ENSP00000279463:W230C	ENSP00000279463:W230C	W	+	3	0	CNTN5	99332764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.711000	0.92665	0.585000	0.79938	TGG		0.393	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2		NM_014361		19	48	1	0	8.00594e-06	1	8.41325e-06	19	48		
YAP1	10413	broad.mit.edu	37	11	102100566	102100566	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:102100566G>C	ENST00000282441.5	+	9	1798	c.1410G>C	c.(1408-1410)ctG>ctC	p.L470L	RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000531439.1_Silent_p.L454L|YAP1_ENST00000526343.1_Silent_p.L416L|YAP1_ENST00000537274.1_Silent_p.L458L|YAP1_ENST00000524575.1_Silent_p.L292L|YAP1_ENST00000345877.2_Silent_p.L420L|YAP1_ENST00000528834.1_3'UTR	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	470	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GAGAGGAGCTGATGCCAAGTC	0.463																																					Colon(50;247 1103 7861 28956)	uc001pgt.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1408-1410)CTG>CTC		Yes-associated protein 1, 65kDa isoform 1							134.0	128.0	130.0					11																	102100566		2203	4299	6502	SO:0001819	synonymous_variant	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102100566G>C		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1410G>C	11.37:g.102100566G>C						YAP1_uc001pgs.2_Silent_p.L420L|YAP1_uc001pgu.2_Silent_p.L454L|YAP1_uc001pgv.2_Silent_p.L416L|YAP1_uc010ruo.1_Silent_p.L292L|YAP1_uc001pgw.2_Silent_p.L294L|YAP1_uc010rup.1_Silent_p.L235L	p.L470L	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	9	1780	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	470			Transactivation domain.		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	37	c.1410G>C	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	G	6.844	0.524940	0.13066	.	.	ENSG00000137693	ENST00000529029	.	.	.	6.17	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6771	0.23100	0.0678:0.2058:0.6093:0.1171	.	.	.	.	S	224	.	.	X	+	2	2	YAP1	101605776	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	2.891000	0.48617	2.941000	0.99782	0.655000	0.94253	TGA		0.463	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1		NM_006106		14	104	0	0	0	1	0	14	104		
CUL5	8065	broad.mit.edu	37	11	107959270	107959270	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:107959270C>G	ENST00000393094.2	+	12	1811	c.1195C>G	c.(1195-1197)Cag>Gag	p.Q399E		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	399					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTAAAAACTCAGCCTGAATC	0.338																																						uc001pjv.2		NaN																	0				ovary(1)	1						c.(1195-1197)CAG>GAG		Vasopressin-activated calcium-mobilizing							80.0	84.0	82.0					11																	107959270		2201	4298	6499	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107959270C>G	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1195C>G	11.37:g.107959270C>G	ENSP00000376808:p.Gln399Glu					CUL5_uc001pju.2_RNA	p.Q399E	NM_003478	NP_003469	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	12	1862	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	399					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.1195C>G	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238918	0.39598	.	.	ENSG00000166266	ENST00000393094	T	0.68903	-0.36	4.86	4.86	0.63082	Cullin, N-terminal (1);Cullin homology (1);	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	L	0.60455	1.87	0.80722	D	1	B	0.23249	0.082	B	0.17722	0.019	T	0.59637	-0.7417	10	0.06625	T	0.88	-5.6664	18.0006	0.89196	0.0:1.0:0.0:0.0	.	399	Q93034	CUL5_HUMAN	E	399	ENSP00000376808:Q399E	ENSP00000376808:Q399E	Q	+	1	0	CUL5	107464480	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.728000	0.84847	2.224000	0.72417	0.655000	0.94253	CAG		0.338	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1				13	76	0	0	0	1	0	13	76		
EXPH5	23086	broad.mit.edu	37	11	108381565	108381565	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:108381565C>G	ENST00000265843.4	-	6	4779	c.4669G>C	c.(4669-4671)Gat>Cat	p.D1557H	EXPH5_ENST00000443411.1_Missense_Mutation_p.D1369H|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.D1481H|EXPH5_ENST00000525344.1_Missense_Mutation_p.D1550H	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1557					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGCATTTCATCTTCAGCCTTC	0.418																																						uc001pkk.2		NaN																	0				skin(3)|ovary(2)	5						c.(4669-4671)GAT>CAT		exophilin 5 isoform a							123.0	114.0	117.0					11																	108381565		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381565C>G		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4669G>C	11.37:g.108381565C>G	ENSP00000265843:p.Asp1557His					EXPH5_uc010rvy.1_Missense_Mutation_p.D1369H|EXPH5_uc010rvz.1_Missense_Mutation_p.D1401H|EXPH5_uc010rwa.1_Missense_Mutation_p.D1481H	p.D1557H	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4780	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1557					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4669G>C	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380787	0.61845	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.04156	3.91;3.83;3.69;3.91;3.74	5.74	2.89	0.33648	.	0.929541	0.09156	N	0.840806	T	0.15478	0.0373	M	0.67953	2.075	0.09310	N	1	D	0.89917	1.0	D	0.69479	0.964	T	0.19386	-1.0307	10	0.72032	D	0.01	-0.2127	3.9484	0.09358	0.2122:0.4803:0.0:0.3075	.	1557	Q8NEV8	EXPH5_HUMAN	H	1557;1481;1369;1550;1481	ENSP00000265843:D1557H;ENSP00000391966:D1481H;ENSP00000411390:D1369H;ENSP00000432546:D1550H;ENSP00000432683:D1481H	ENSP00000265843:D1557H	D	-	1	0	EXPH5	107886775	0.001000	0.12720	0.000000	0.03702	0.396000	0.30629	0.258000	0.18387	0.368000	0.24481	0.655000	0.94253	GAT		0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065		21	117	0	0	0	1	0	21	117		
RDX	5962	broad.mit.edu	37	11	110134918	110134918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:110134918G>C	ENST00000343115.4	-	5	553	c.234C>G	c.(232-234)ttC>ttG	p.F78L	RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Missense_Mutation_p.F46L|RDX_ENST00000528498.1_Missense_Mutation_p.F78L|RDX_ENST00000544551.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.F78L	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	78	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTCTAAACTTGAACTGTAAAG	0.303																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	uc001pku.2		NaN																	0					0						c.(232-234)TTC>TTG		radixin							36.0	37.0	36.0					11																	110134918		2201	4297	6498	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110134918G>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.234C>G	11.37:g.110134918G>C	ENSP00000342830:p.Phe78Leu					RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.F78L|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Missense_Mutation_p.F46L|RDX_uc010rwe.1_Intron	p.F78L	NM_002906	NP_002897	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	5	544	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	78			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.234C>G	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589561	0.66105	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000530301;ENST00000343115;ENST00000532118;ENST00000533991	T;T;T;T;D;D	0.84660	-0.55;-0.55;-0.55;-0.55;-1.88;-1.88	4.99	4.99	0.66335	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.83635	0.5297	L	0.42686	1.345	0.80722	D	1	B;P;B	0.44816	0.004;0.844;0.425	B;P;B	0.50109	0.085;0.631;0.282	T	0.83031	-0.0162	10	0.46703	T	0.11	.	9.2057	0.37287	0.1702:0.0:0.8298:0.0	.	46;78;78	A7YIK0;A7YIJ8;P35241	.;.;RADI_HUMAN	L	78;78;78;46;78;67;67	ENSP00000432112:F78L;ENSP00000384136:F78L;ENSP00000436277:F46L;ENSP00000342830:F78L;ENSP00000437140:F67L;ENSP00000432572:F67L	ENSP00000342830:F78L	F	-	3	2	RDX	109640128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.006000	0.40874	2.454000	0.82982	0.650000	0.86243	TTC		0.303	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2		NM_002906		21	30	0	0	0	1	0	21	30		
ARHGAP20	57569	broad.mit.edu	37	11	110450129	110450129	+	Missense_Mutation	SNP	C	C	T	rs148304862	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:110450129C>T	ENST00000260283.4	-	16	3825	c.3541G>A	c.(3541-3543)Gac>Aac	p.D1181N	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D724N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D1158N|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D1155N|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D1145N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D1145N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D1155N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1181					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(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTCAATGTCGCAGACCACT	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		20394	0.0		0.001	False		,,,				2504	0.001					uc001pkz.1		NaN																	0				ovary(3)|kidney(2)	5						c.(3541-3543)GAC>AAC		Rho GTPase activating protein 20		C	ASN/ASP	0,4402		0,0,2201	132.0	138.0	136.0		3541	2.1	0.0	11	dbSNP_134	136	2,8594	2.2+/-6.3	0,2,4296	yes	missense	ARHGAP20	NM_020809.2	23	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	benign	1181/1192	110450129	2,12996	2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450129C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3541G>A	11.37:g.110450129C>T	ENSP00000260283:p.Asp1181Asn					ARHGAP20_uc001pky.1_Missense_Mutation_p.D1158N|ARHGAP20_uc009yyb.1_Missense_Mutation_p.D1145N|ARHGAP20_uc001pla.1_Missense_Mutation_p.D1145N|ARHGAP20_uc001plb.2_Missense_Mutation_p.D724N	p.D1181N	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3826	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	1181					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.3541G>A	CCDS31673.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.353	0.831383	0.16820	0.0	2.33E-4	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.10960	2.82;2.82;2.88;2.82;2.83;2.82;2.83	5.28	2.08	0.27032	.	0.735809	0.12432	N	0.469464	T	0.07503	0.0189	L	0.31294	0.92	0.09310	N	1	B;B;B	0.21821	0.061;0.004;0.014	B;B;B	0.13407	0.009;0.002;0.006	T	0.32241	-0.9914	10	0.38643	T	0.18	.	5.9618	0.19303	0.0:0.604:0.0:0.396	.	1155;1181;1158	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	N	1181;1155;724;1158;1145;1155;1145	ENSP00000260283:D1181N;ENSP00000349660:D1155N;ENSP00000437905:D724N;ENSP00000432076:D1158N;ENSP00000436319:D1145N;ENSP00000436522:D1155N;ENSP00000431399:D1145N	ENSP00000260283:D1181N	D	-	1	0	ARHGAP20	109955339	0.010000	0.17322	0.001000	0.08648	0.054000	0.15201	0.303000	0.19210	0.722000	0.32252	0.655000	0.94253	GAC		0.448	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1		NM_020809		23	125	0	0	0	1	0	23	125		
SDHD	6392	broad.mit.edu	37	11	111965691	111965691	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:111965691C>G	ENST00000375549.3	+	4	612	c.477C>G	c.(475-477)ctC>ctG	p.L159L	SDHD_ENST00000526592.1_3'UTR|SDHD_ENST00000528182.1_3'UTR|SDHD_ENST00000528048.1_3'UTR|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000528021.1_Intron|SDHD_ENST00000525291.1_Silent_p.L120L	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	159					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	TGTGGAAGCTCTGACCTTTTT	0.423			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													uc001pmz.2		NaN	yes	Rec		Familial paraganglioma	11	11q23	6392	Mis|N|F|S	"""succinate dehydrogenase complex, subunit D, integral membrane protein"""			O		paraganglioma|pheochromocytoma			0					0						c.(475-477)CTC>CTG		succinate dehydrogenase complex, subunit D	Succinic acid(DB00139)						33.0	30.0	31.0					11																	111965691		2150	4138	6288	SO:0001819	synonymous_variant	6392	Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding	g.chr11:111965691C>G	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"""Mitochondrial respiratory chain complex / Complex II"""	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.477C>G	11.37:g.111965691C>G							p.L159L	NM_003002	NP_002993	O14521	DHSD_HUMAN		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	4	538	+		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	159			Mitochondrial intermembrane (By similarity).		A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Silent	SNP	ENST00000375549.3	37	c.477C>G	CCDS31678.1																																																																																				0.423	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392351.1		NM_003002		24	66	0	0	0	1	0	24	66		
PAFAH1B2	5049	broad.mit.edu	37	11	117023231	117023231	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:117023231G>C	ENST00000527958.1	+	2	227	c.68G>C	c.(67-69)cGa>cCa	p.R23P	PAFAH1B2_ENST00000419197.2_Missense_Mutation_p.R23P|PAFAH1B2_ENST00000530272.1_Missense_Mutation_p.R23P|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Missense_Mutation_p.R23P	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	23					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		GGAGATGACCGATGGATGTCT	0.413			T	IGH@	MLCLS																																	uc001pqe.1		NaN		Dom	yes		11	11q23	5049	T	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"""			L	IGH@		MLCLS		0				kidney(1)	1						c.(67-69)CGA>CCA		platelet-activating factor acetylhydrolase,							131.0	115.0	120.0					11																	117023231		2201	4296	6497	SO:0001583	missense	5049				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity	g.chr11:117023231G>C	D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 2 subunit"""	602508	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"""			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.68G>C	11.37:g.117023231G>C	ENSP00000435289:p.Arg23Pro					PAFAH1B2_uc009yzk.1_Missense_Mutation_p.R23P|PAFAH1B2_uc009yzl.1_Missense_Mutation_p.R23P|PAFAH1B2_uc009yzm.2_RNA|PAFAH1B2_uc009yzn.2_RNA|PAFAH1B2_uc009yzj.1_Intron	p.R23P	NM_002572	NP_002563	P68402	PA1B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)	2	170	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)	23					A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Missense_Mutation	SNP	ENST00000527958.1	37	c.68G>C	CCDS8380.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751245	0.89753	.	.	ENSG00000168092	ENST00000527958;ENST00000419197;ENST00000529887;ENST00000530272	T;T;T	0.48522	0.81;0.93;0.93	5.37	5.37	0.77165	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.994	T	0.72581	-0.4250	10	0.59425	D	0.04	-10.6981	18.7116	0.91659	0.0:0.0:1.0:0.0	.	23;23;23	E9PLP3;A8DPS6;P68402	.;.;PA1B2_HUMAN	P	23	ENSP00000435289:R23P;ENSP00000388742:R23P;ENSP00000431365:R23P	ENSP00000388742:R23P	R	+	2	0	PAFAH1B2	116528441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.637000	0.91014	2.514000	0.84764	0.655000	0.94253	CGA		0.413	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392826.1		NM_002572		6	55	0	0	0	1	0	6	55		
IL10RA	3587	broad.mit.edu	37	11	117859132	117859132	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:117859132G>C	ENST00000227752.3	+	2	223	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	IL10RA_ENST00000541785.1_Missense_Mutation_p.E15Q|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_5'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	35					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGTGTGGTTTGAAGCAGAATT	0.542																																						uc001prv.2		NaN																	0				ovary(1)	1						c.(103-105)GAA>CAA		interleukin 10 receptor, alpha precursor							126.0	118.0	120.0					11																	117859132		2201	4296	6497	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117859132G>C	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.103G>C	11.37:g.117859132G>C	ENSP00000227752:p.Glu35Gln					IL10RA_uc010rxl.1_Missense_Mutation_p.E15Q|IL10RA_uc010rxm.1_Missense_Mutation_p.E15Q|IL10RA_uc010rxn.1_5'UTR|IL10RA_uc001prw.2_5'UTR	p.E35Q	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	2	180	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	35			Extracellular (Potential).		A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.103G>C	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755137	0.69648	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	T;T	0.72282	-0.64;-0.64	5.13	1.75	0.24633	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.761384	0.12911	N	0.428939	T	0.62085	0.2399	N	0.21097	0.63	0.80722	D	1	D;D	0.57257	0.974;0.979	P;P	0.55577	0.596;0.779	T	0.54702	-0.8254	10	0.10111	T	0.7	-3.9509	7.4646	0.27314	0.3255:0.0:0.6745:0.0	.	15;35	F5GYV8;Q13651	.;I10R1_HUMAN	Q	35;15;15	ENSP00000227752:E35Q;ENSP00000441397:E15Q	ENSP00000227752:E35Q	E	+	1	0	IL10RA	117364342	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	0.327000	0.19663	0.559000	0.29153	0.555000	0.69702	GAA		0.542	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1				30	110	0	0	0	1	0	30	110		
CD3G	917	broad.mit.edu	37	11	118221328	118221328	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118221328C>T	ENST00000532917.1	+	4	437	c.369C>T	c.(367-369)atC>atT	p.I123I	CD3G_ENST00000392883.2_Intron|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	123					cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TTGCTGAAATCGTCAGCATTT	0.463																																						uc001psu.2		NaN																	0					0						c.(367-369)ATC>ATT		CD3G antigen, gamma polypeptide precursor							191.0	165.0	174.0					11																	118221328		2200	4296	6496	SO:0001819	synonymous_variant	917				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	g.chr11:118221328C>T	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.369C>T	11.37:g.118221328C>T						CD3G_uc009zaa.1_Silent_p.I63I	p.I123I	NM_000073	NP_000064	P09693	CD3G_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	4	449	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	123			Helical; (Potential).		Q2HIZ6	Silent	SNP	ENST00000532917.1	37	c.369C>T	CCDS8395.1																																																																																				0.463	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1		NM_000073		27	103	0	0	0	1	0	27	103		
KMT2A	4297	broad.mit.edu	37	11	118369132	118369132	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118369132C>T	ENST00000389506.5	+	22	5841	c.5841C>T	c.(5839-5841)ctC>ctT	p.L1947L	KMT2A_ENST00000354520.4_Silent_p.L1909L|KMT2A_ENST00000534358.1_Silent_p.L1950L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1947					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GTTGCTGTCTCACATCCTGCA	0.423																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(5839-5841)CTC>CTT		myeloid/lymphoid or mixed-lineage leukemia							192.0	206.0	201.0					11																	118369132		2200	4296	6496	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118369132C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5841C>T	11.37:g.118369132C>T						MLL_uc001ptb.2_Silent_p.L1950L	p.L1947L	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	22	5864	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1947					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.5841C>T	CCDS31686.1																																																																																				0.423	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		105	191	0	0	0	1	0	105	191		
KMT2A	4297	broad.mit.edu	37	11	118375134	118375134	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118375134G>A	ENST00000389506.5	+	27	8518	c.8518G>A	c.(8518-8520)Gac>Aac	p.D2840N	KMT2A_ENST00000354520.4_Missense_Mutation_p.D2802N|KMT2A_ENST00000534358.1_Missense_Mutation_p.D2843N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2840					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAACAGTGATGACTGTGGGAA	0.443																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(8518-8520)GAC>AAC		myeloid/lymphoid or mixed-lineage leukemia							99.0	95.0	97.0					11																	118375134		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118375134G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8518G>A	11.37:g.118375134G>A	ENSP00000374157:p.Asp2840Asn					MLL_uc001ptb.2_Missense_Mutation_p.D2843N	p.D2840N	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	8541	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2840					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8518G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232140	0.58777	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.89617	-2.54;-2.54;-2.49	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.93216	0.7839	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.93034	0.6451	10	0.87932	D	0	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	2843;2840	E9PQG7;Q03164	.;MLL1_HUMAN	N	2843;2840;2802;1750	ENSP00000436786:D2843N;ENSP00000374157:D2840N;ENSP00000346516:D2802N	ENSP00000346516:D2802N	D	+	1	0	MLL	117880344	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.352000	0.97076	2.871000	0.98454	0.655000	0.94253	GAC		0.443	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		56	129	0	0	0	1	0	56	129		
KMT2A	4297	broad.mit.edu	37	11	118390358	118390358	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118390358G>A	ENST00000389506.5	+	32	11163	c.11163G>A	c.(11161-11163)ggG>ggA	p.G3721G	RP11-770J1.3_ENST00000525992.2_RNA|KMT2A_ENST00000354520.4_Silent_p.G3683G|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000534358.1_Silent_p.G3724G			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3721	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GGATGCTGGGGATTCTCCATG	0.493																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(11161-11163)GGG>GGA		myeloid/lymphoid or mixed-lineage leukemia							222.0	199.0	207.0					11																	118390358		2200	4295	6495	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118390358G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11163G>A	11.37:g.118390358G>A						MLL_uc001ptb.2_Silent_p.G3724G	p.G3721G	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	32	11186	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3721			FYR C-terminal.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.11163G>A	CCDS31686.1																																																																																				0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		22	151	0	0	0	1	0	22	151		
KMT2A	4297	broad.mit.edu	37	11	118390449	118390449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118390449G>T	ENST00000389506.5	+	32	11254	c.11254G>T	c.(11254-11256)Gag>Tag	p.E3752*	RP11-770J1.3_ENST00000525992.2_RNA|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.E3714*|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.E3755*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3752					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAAGCCAGAGGAGGCCAATGA	0.522																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(11254-11256)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia							123.0	117.0	119.0					11																	118390449		2200	4295	6495	SO:0001587	stop_gained	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118390449G>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11254G>T	11.37:g.118390449G>T	ENSP00000374157:p.Glu3752*					MLL_uc001ptb.2_Nonsense_Mutation_p.E3755*	p.E3752*	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	32	11277	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3752					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.11254G>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	52	20.012036	0.99926	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.82	5.82	0.92795	.	0.051818	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	.	.	.	X	3755;3752;3714;2662	.	ENSP00000346516:E3714X	E	+	1	0	MLL	117895659	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.476000	0.97823	2.756000	0.94617	0.563000	0.77884	GAG		0.522	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		16	107	1	0	3.45872e-05	1	3.61359e-05	16	107		
UPK2	7379	broad.mit.edu	37	11	118827612	118827612	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118827612C>G	ENST00000264031.2	+	2	131	c.96C>G	c.(94-96)ctC>ctG	p.L32L	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	32					epithelial cell differentiation (GO:0030855)|membrane organization (GO:0061024)|multicellular organismal development (GO:0007275)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCTCAAGCCTCTCTGGTCTGC	0.627											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001puh.2		NaN																	0				skin(1)	1						c.(94-96)CTC>CTG		uroplakin 2 precursor							70.0	64.0	66.0					11																	118827612		2200	4295	6495	SO:0001819	synonymous_variant	7379				cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane		g.chr11:118827612C>G	Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375			12579	protein-coding gene	gene with protein product	"""uroplakin II"", ""uroplakin-2"""	611558				9515818, 9846985	Standard	NM_006760		Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.96C>G	11.37:g.118827612C>G			OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1491		p.L32L	NM_006760	NP_006751	O00526	UPK2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	2	131	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)	32					B0YJ92|O00457|Q53YV0	Silent	SNP	ENST00000264031.2	37	c.96C>G	CCDS8404.1																																																																																				0.627	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389311.1		NM_006760		12	68	0	0	0	1	0	12	68		
UPK2	7379	broad.mit.edu	37	11	118827675	118827675	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118827675C>T	ENST00000264031.2	+	2	194	c.159C>T	c.(157-159)ctC>ctT	p.L53L	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	53					epithelial cell differentiation (GO:0030855)|membrane organization (GO:0061024)|multicellular organismal development (GO:0007275)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCTGTCACCTCACAGGAGGCA	0.592											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001puh.2		NaN																	0				skin(1)	1						c.(157-159)CTC>CTT		uroplakin 2 precursor							107.0	92.0	97.0					11																	118827675		2200	4295	6495	SO:0001819	synonymous_variant	7379				cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane		g.chr11:118827675C>T	Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375			12579	protein-coding gene	gene with protein product	"""uroplakin II"", ""uroplakin-2"""	611558				9515818, 9846985	Standard	NM_006760		Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.159C>T	11.37:g.118827675C>T			OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1491		p.L53L	NM_006760	NP_006751	O00526	UPK2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	2	194	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)	53					B0YJ92|O00457|Q53YV0	Silent	SNP	ENST00000264031.2	37	c.159C>T	CCDS8404.1																																																																																				0.592	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389311.1		NM_006760		10	79	0	0	0	1	0	10	79		
TRAPPC4	51399	broad.mit.edu	37	11	118889918	118889918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118889918G>C	ENST00000533632.1	+	2	605	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000434101.2_Missense_Mutation_p.E81Q|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.E81Q|TRAPPC4_ENST00000528230.1_Intron|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.E81Q|RPS25_ENST00000527673.1_5'Flank|TRAPPC4_ENST00000525303.1_Intron	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	81					dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CGACGGGAAAGAGGTGCTGGA	0.562																																						uc010ryo.1		NaN																	0					0						c.(241-243)GAG>CAG		trafficking protein particle complex 4							123.0	101.0	108.0					11																	118889918		2200	4295	6495	SO:0001583	missense	51399				dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding	g.chr11:118889918G>C	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296		ENST00000533632.1:c.241G>C	11.37:g.118889918G>C	ENSP00000436005:p.Glu81Gln					RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.E81Q|TRAPPC4_uc010ryp.1_Missense_Mutation_p.E81Q|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.E81Q	p.E81Q	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	2	506	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	81					A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	c.241G>C	CCDS8407.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973530	0.74246	.	.	ENSG00000196655	ENST00000533632;ENST00000434101;ENST00000359005;ENST00000533058	T;T;T;T	0.49432	2.14;0.78;2.14;2.14	5.86	5.86	0.93980	Longin-like (1);	0.088868	0.85682	D	0.000000	T	0.55321	0.1913	L	0.38838	1.175	0.80722	D	1	B;P;B;P	0.44344	0.157;0.833;0.07;0.563	B;P;B;B	0.53760	0.163;0.734;0.029;0.108	T	0.40979	-0.9534	10	0.31617	T	0.26	-24.9583	20.1796	0.98194	0.0:0.0:1.0:0.0	.	81;81;81;81	B4DF86;B4DME1;Q9Y296;B4DF36	.;.;TPPC4_HUMAN;.	Q	81	ENSP00000436005:E81Q;ENSP00000405033:E81Q;ENSP00000351896:E81Q;ENSP00000432920:E81Q	ENSP00000351896:E81Q	E	+	1	0	TRAPPC4	118395128	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.630000	0.98420	2.784000	0.95788	0.655000	0.94253	GAG		0.562	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1		NM_016146		13	62	0	0	0	1	0	13	62		
CBL	867	broad.mit.edu	37	11	119149302	119149302	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:119149302G>T	ENST00000264033.4	+	9	1686	c.1310G>T	c.(1309-1311)aGa>aTa	p.R437I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	437	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTTGATCCTAGAGGGAGTGGC	0.483			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2		NaN		"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					1	Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(1309-1311)AGA>ATA		Cas-Br-M (murine) ecotropic retroviral							113.0	109.0	110.0					11																	119149302		2199	4295	6494	SO:0001583	missense	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149302G>T	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1310G>T	11.37:g.119149302G>T	ENSP00000264033:p.Arg437Ile						p.R437I	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1448	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	437			Asp/Glu-rich (acidic).		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.1310G>T	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168173	0.57476	.	.	ENSG00000110395	ENST00000264033	T	0.79141	-1.24	5.96	5.96	0.96718	.	0.047332	0.85682	D	0.000000	T	0.80439	0.4623	M	0.72894	2.215	0.80722	D	1	P	0.43973	0.823	B	0.41510	0.359	T	0.81765	-0.0783	10	0.56958	D	0.05	-32.5213	20.422	0.99049	0.0:0.0:1.0:0.0	.	437	P22681	CBL_HUMAN	I	437	ENSP00000264033:R437I	ENSP00000264033:R437I	R	+	2	0	CBL	118654512	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.943000	0.75934	2.832000	0.97577	0.655000	0.94253	AGA		0.483	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4		NM_005188		36	78	1	0	1.36615e-20	1	1.57057e-20	36	78		
CBL	867	broad.mit.edu	37	11	119149399	119149399	+	Missense_Mutation	SNP	G	G	A	rs138277394		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:119149399G>A	ENST00000264033.4	+	9	1783	c.1407G>A	c.(1405-1407)atG>atA	p.M469I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	469	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M469I(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTCTCTTCATGATGAAGGAAT	0.463			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2		NaN		"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					2	Substitution - Missense(1)|Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(1405-1407)ATG>ATA		Cas-Br-M (murine) ecotropic retroviral							80.0	84.0	82.0					11																	119149399		2199	4295	6494	SO:0001583	missense	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149399G>A	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1407G>A	11.37:g.119149399G>A	ENSP00000264033:p.Met469Ile						p.M469I	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1545	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	469			Asp/Glu-rich (acidic).		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.1407G>A	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250660	0.39797	.	.	ENSG00000110395	ENST00000264033	T	0.77229	-1.08	5.96	4.09	0.47781	.	0.038855	0.85682	D	0.000000	T	0.67107	0.2858	L	0.32530	0.975	0.45118	D	0.998135	B	0.02656	0.0	B	0.01281	0.0	T	0.60378	-0.7275	10	0.38643	T	0.18	-27.799	12.0497	0.53500	0.0651:0.1218:0.813:0.0	.	469	P22681	CBL_HUMAN	I	469	ENSP00000264033:M469I	ENSP00000264033:M469I	M	+	3	0	CBL	118654609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.440000	0.59975	0.855000	0.35359	0.655000	0.94253	ATG		0.463	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4		NM_005188		21	55	0	0	0	1	0	21	55		
SORL1	6653	broad.mit.edu	37	11	121384943	121384943	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:121384943C>G	ENST00000260197.7	+	8	1253	c.1124C>G	c.(1123-1125)tCa>tGa	p.S375*	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	375					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTATACATCTCAGAGGCAGAG	0.512																																						uc001pxx.2		NaN																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(1123-1125)TCA>TGA		sortilin-related receptor containing LDLR class							107.0	98.0	101.0					11																	121384943		2203	4299	6502	SO:0001587	stop_gained	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121384943C>G	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1124C>G	11.37:g.121384943C>G	ENSP00000260197:p.Ser375*						p.S375*	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	8	1204	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	375			Extracellular (Potential).		B2RNX7|Q92856	Nonsense_Mutation	SNP	ENST00000260197.7	37	c.1124C>G	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	40	8.244648	0.98724	.	.	ENSG00000137642	ENST00000260197	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.76	0.96311	0.0:1.0:0.0:0.0	.	.	.	.	X	375	.	ENSP00000260197:S375X	S	+	2	0	SORL1	120890153	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.786000	0.85741	2.666000	0.90696	0.655000	0.94253	TCA		0.512	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2		NM_003105		15	70	0	0	0	1	0	15	70		
SORL1	6653	broad.mit.edu	37	11	121424706	121424706	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:121424706C>T	ENST00000260197.7	+	17	2456	c.2327C>T	c.(2326-2328)tCg>tTg	p.S776L		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	776					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACCTGGCCTCGGGAGCCACC	0.567																																						uc001pxx.2		NaN																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(2326-2328)TCG>TTG		sortilin-related receptor containing LDLR class							164.0	157.0	160.0					11																	121424706		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121424706C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2327C>T	11.37:g.121424706C>T	ENSP00000260197:p.Ser776Leu						p.S776L	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	17	2407	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	776			Extracellular (Potential).		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2327C>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935776	0.73442	.	.	ENSG00000137642	ENST00000260197	D	0.91740	-2.9	4.86	4.86	0.63082	Six-bladed beta-propeller, TolB-like (1);	0.364604	0.28225	N	0.016136	D	0.91310	0.7260	M	0.68952	2.095	0.80722	D	1	B	0.19935	0.04	B	0.11329	0.006	D	0.89055	0.3458	10	0.62326	D	0.03	.	18.1886	0.89799	0.0:1.0:0.0:0.0	.	776	Q92673	SORL_HUMAN	L	776	ENSP00000260197:S776L	ENSP00000260197:S776L	S	+	2	0	SORL1	120929916	1.000000	0.71417	0.934000	0.37439	0.864000	0.49448	7.409000	0.80053	2.517000	0.84864	0.491000	0.48974	TCG		0.567	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2		NM_003105		47	134	0	0	0	1	0	47	134		
BSX	390259	broad.mit.edu	37	11	122848503	122848503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:122848503C>A	ENST00000343035.2	-	3	604	c.556G>T	c.(556-558)Gag>Tag	p.E186*		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	186					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGGCTGCCCTCGGGGCTTTCT	0.647																																						uc010rzs.1		NaN																	0					0						c.(556-558)GAG>TAG		brain specific homeobox							36.0	40.0	39.0					11																	122848503		1858	4089	5947	SO:0001587	stop_gained	390259							g.chr11:122848503C>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.556G>T	11.37:g.122848503C>A	ENSP00000344285:p.Glu186*						p.E186*	NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	556	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	186						Nonsense_Mutation	SNP	ENST00000343035.2	37	c.556G>T	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587487	0.66105	.	.	ENSG00000188909	ENST00000343035	.	.	.	5.4	3.36	0.38483	.	0.642175	0.16202	N	0.224852	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	17.492	0.87707	0.0:0.7512:0.2488:0.0	.	.	.	.	X	186	.	ENSP00000344285:E186X	E	-	1	0	BSX	122353713	0.450000	0.25697	0.981000	0.43875	0.619000	0.37552	0.998000	0.29744	1.235000	0.43724	0.561000	0.74099	GAG		0.647	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1		NM_001098169		8	32	1	0	0.00307968	1	0.00313441	8	32		
SLC37A2	219855	broad.mit.edu	37	11	124933296	124933296	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:124933296C>T	ENST00000403796.2	+	1	334	c.33C>T	c.(31-33)ttC>ttT	p.F11F	SLC37A2_ENST00000407458.1_Silent_p.F11F|SLC37A2_ENST00000298280.5_Silent_p.F11F|SLC37A2_ENST00000308074.4_Silent_p.F11F	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	11					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GAGTCTGGTTCTTCCGGGCCT	0.711																																					Melanoma(11;373 620 21213 26083 47768)	uc001qbn.2		NaN																	0				ovary(2)	2						c.(31-33)TTC>TTT		solute carrier family 37 (glycerol-3-phosphate							45.0	43.0	44.0					11																	124933296		2201	4299	6500	SO:0001819	synonymous_variant	219855				carbohydrate transport|transmembrane transport	integral to membrane		g.chr11:124933296C>T	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.33C>T	11.37:g.124933296C>T						SLC37A2_uc010sau.1_Silent_p.F11F	p.F11F	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)	1	284	+	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)	11					A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	c.33C>T	CCDS44757.1																																																																																				0.711	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1		XM_166184		5	12	0	0	0	1	0	5	12		
NFRKB	4798	broad.mit.edu	37	11	129752028	129752028	+	Missense_Mutation	SNP	G	G	A	rs201205390		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:129752028G>A	ENST00000446488.3	-	10	1247	c.1144C>T	c.(1144-1146)Ctt>Ttt	p.L382F	NFRKB_ENST00000304521.5_Missense_Mutation_p.L382F|NFRKB_ENST00000524794.1_Missense_Mutation_p.L407F|NFRKB_ENST00000524746.1_Missense_Mutation_p.L382F	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	382	Winged-helix like domain.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCTAATAGAAGAGAGAAGAAG	0.403											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qfi.2		NaN																	0				ovary(3)	3						c.(1144-1146)CTT>TTT		nuclear factor related to kappaB binding protein							35.0	38.0	37.0					11																	129752028		2200	4297	6497	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129752028G>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1144C>T	11.37:g.129752028G>A	ENSP00000400476:p.Leu382Phe		OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1574	NFRKB_uc001qfg.2_Missense_Mutation_p.L407F|NFRKB_uc001qfh.2_Missense_Mutation_p.L405F|NFRKB_uc010sbw.1_Missense_Mutation_p.L394F	p.L382F	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	11	1345	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	382					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1144C>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057754	0.55325	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.85	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	M	0.66939	2.045	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.77536	-0.2551	9	0.87932	D	0	-16.2385	12.6238	0.56618	0.1346:0.0:0.8654:0.0	.	394;382;382;407	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	F	382;382;407;382;394	.	ENSP00000303800:L382F	L	-	1	0	NFRKB	129257238	1.000000	0.71417	0.821000	0.32701	0.970000	0.65996	3.245000	0.51407	0.817000	0.34445	0.655000	0.94253	CTT		0.403	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2		NM_006165		16	16	0	0	0	1	0	16	16		
B4GALNT3	283358	broad.mit.edu	37	12	674518	674518	+	IGR	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:674518G>A	ENST00000266383.5	+	0	5068				NINJ2_ENST00000537416.1_5'Flank|NINJ2_ENST00000397265.3_Silent_p.L97L|NINJ2_ENST00000305108.4_Silent_p.L150L|NINJ2_ENST00000542920.1_Silent_p.L68L	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTGCGTTGTTGAGCTGGTTGA	0.557																																						uc001qil.2		NaN																	0				ovary(2)	2						c.(448-450)CTC>CTT		ninjurin 2							151.0	132.0	139.0					12																	674518		2203	4300	6503	SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:674518G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.674518G>A							p.L150L	NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		3	541	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		104			Cytoplasmic (Potential).		Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.450C>T	CCDS8504.1																																																																																				0.557	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2		NM_173593		18	93	0	0	0	1	0	18	93		
CACNA1C	775	broad.mit.edu	37	12	2797857	2797857	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:2797857G>T	ENST00000347598.4	+	48	6173	c.6173G>T	c.(6172-6174)aGa>aTa	p.R2058I	CACNA1C_ENST00000399649.1_Missense_Mutation_p.R2016I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R2081I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R2029I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R2018I|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R2018I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R2029I|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R2010I|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R2038I|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R2010I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R2029I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R2010I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R2045I|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R2081I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R2010I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R2010I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R2035I|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R2051I|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R2010I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R2027I|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R2045I|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R2030I|CACNA1C-AS1_ENST00000501371.1_RNA	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2093					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCGCCCGGAGAGTCCGGCCC	0.692																																						uc009zdu.1		NaN																	0				ovary(10)|central_nervous_system(1)	11						c.(6277-6279)AGA>ATA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						17.0	21.0	20.0					12																	2797857		1907	4097	6004	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2797857G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6173G>T	12.37:g.2797857G>T	ENSP00000266376:p.Arg2058Ile					CACNA1C_uc009zdv.1_Missense_Mutation_p.R2007I|CACNA1C_uc001qkb.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkc.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qke.2_Missense_Mutation_p.R1999I|CACNA1C_uc001qkf.2_Missense_Mutation_p.R2018I|CACNA1C_uc001qjz.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkd.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qkg.2_Missense_Mutation_p.R2016I|CACNA1C_uc009zdw.1_Missense_Mutation_p.R2051I|CACNA1C_uc001qkh.2_Missense_Mutation_p.R2018I|CACNA1C_uc001qkl.2_Missense_Mutation_p.R2058I|CACNA1C_uc001qkn.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qko.2_Missense_Mutation_p.R2030I|CACNA1C_uc001qkp.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkr.2_Missense_Mutation_p.R2027I|CACNA1C_uc001qku.2_Missense_Mutation_p.R2045I|CACNA1C_uc001qkq.2_Missense_Mutation_p.R2038I|CACNA1C_uc001qks.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkt.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qki.1_Missense_Mutation_p.R1817I|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1781I|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1746I|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1806I|CACNA1C_uc010sea.1_Missense_Mutation_p.R701I|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.R328I	p.R2093I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	49	6591	+			2093			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.6278G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	6.603	0.479547	0.12581	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.21	1.3	0.21679	.	0.368951	0.25227	N	0.032191	T	0.52948	0.1766	N	0.22421	0.69	0.38004	D	0.934335	B;D;B;B;P;B;B;B;B;B;P;B;P;B;B;B;P;B;P;B;B;B;P;B;B	0.76494	0.399;0.999;0.302;0.138;0.951;0.404;0.355;0.404;0.018;0.284;0.546;0.302;0.731;0.404;0.201;0.415;0.731;0.04;0.546;0.043;0.355;0.404;0.546;0.302;0.302	B;D;B;B;P;B;B;B;B;B;B;B;P;B;B;B;P;B;B;B;B;B;B;B;B	0.67548	0.067;0.952;0.101;0.065;0.742;0.286;0.065;0.195;0.098;0.131;0.286;0.075;0.468;0.286;0.075;0.205;0.468;0.133;0.286;0.037;0.065;0.286;0.195;0.101;0.101	T	0.55218	-0.8175	10	0.52906	T	0.07	.	10.1409	0.42734	0.3377:0.0:0.6623:0.0	.	701;2051;2007;2093;2045;2029;2010;2027;2038;2010;2030;2010;2041;2058;2010;2045;2081;2018;2016;2018;1999;2029;2029;2010;2010	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	2035;2010;2010;2038;2010;2029;2029;2018;2010;2058;2030;2010;2051;2027;2045;2016;2029;2010;2081;2045;2081;2018;1911	ENSP00000336982:R2035I;ENSP00000382563:R2010I;ENSP00000382552:R2010I;ENSP00000382547:R2038I;ENSP00000382506:R2010I;ENSP00000382530:R2029I;ENSP00000382546:R2029I;ENSP00000382500:R2018I;ENSP00000382549:R2010I;ENSP00000266376:R2058I;ENSP00000382515:R2030I;ENSP00000382510:R2010I;ENSP00000341092:R2051I;ENSP00000382537:R2027I;ENSP00000329877:R2045I;ENSP00000382557:R2016I;ENSP00000385724:R2029I;ENSP00000382512:R2010I;ENSP00000382542:R2081I;ENSP00000382526:R2045I;ENSP00000385896:R2081I;ENSP00000382504:R2018I	ENSP00000323129:R1911I	R	+	2	0	CACNA1C	2668118	1.000000	0.71417	0.965000	0.40720	0.043000	0.13939	1.696000	0.37773	0.221000	0.20879	-0.369000	0.07265	AGA		0.692	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719		6	33	1	0	0.00116845	1	0.00119403	6	33		
C12orf4	57102	broad.mit.edu	37	12	4643350	4643350	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:4643350C>T	ENST00000261250.3	-	3	384	c.297G>A	c.(295-297)gcG>gcA	p.A99A	C12orf4_ENST00000545746.1_Silent_p.A99A	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	99										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CCCATGTACTCGCCAGCTGAT	0.393																																						uc001qms.2		NaN																	0					0						c.(295-297)GCG>GCA		hypothetical protein LOC57102							85.0	79.0	81.0					12																	4643350		2203	4300	6503	SO:0001819	synonymous_variant	57102							g.chr12:4643350C>T	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.297G>A	12.37:g.4643350C>T						C12orf4_uc001qmt.2_Silent_p.A99A	p.A99A	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	3	385	-			99					D3DUQ8|Q6MZH5	Silent	SNP	ENST00000261250.3	37	c.297G>A	CCDS8528.1																																																																																				0.393	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1		NM_020374		32	55	0	0	0	1	0	32	55		
NOP2	4839	broad.mit.edu	37	12	6675398	6675398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6675398C>A	ENST00000322166.5	-	5	464	c.343G>T	c.(343-345)Gag>Tag	p.E115*	NOP2_ENST00000541778.1_Nonsense_Mutation_p.E111*|NOP2_ENST00000382421.3_Nonsense_Mutation_p.E115*|NOP2_ENST00000537442.1_Nonsense_Mutation_p.E115*|NOP2_ENST00000545200.1_Nonsense_Mutation_p.E111*|NOP2_ENST00000399466.2_Nonsense_Mutation_p.E111*|NOP2_ENST00000542015.1_Intron	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	115					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TCCTCCTCCTCTTCCTCATCA	0.562																																						uc001qpk.1		NaN																	0				ovary(2)	2						c.(343-345)GAG>TAG		Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.							56.0	59.0	58.0					12																	6675398		2042	4187	6229	SO:0001587	stop_gained	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6675398C>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.343G>T	12.37:g.6675398C>A	ENSP00000313272:p.Glu115*					NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Nonsense_Mutation_p.E111*|NOP2_uc001qpi.1_Nonsense_Mutation_p.E111*|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Nonsense_Mutation_p.E115*|NOP2_uc001qpm.1_Nonsense_Mutation_p.E115*	p.E115*			P46087	NOP2_HUMAN			4	387	-			115					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Nonsense_Mutation	SNP	ENST00000322166.5	37	c.343G>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846093	0.91277	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542867;ENST00000536124;ENST00000545492	.	.	.	3.75	3.75	0.43078	.	0.363424	0.30752	N	0.008948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-12.7709	11.4428	0.50107	0.0:1.0:0.0:0.0	.	.	.	.	X	115;115;111;111;115;111;111;115;115	.	ENSP00000313272:E115X	E	-	1	0	NOP2	6545659	0.408000	0.25360	0.986000	0.45419	0.989000	0.77384	3.399000	0.52586	1.822000	0.53115	0.591000	0.81541	GAG		0.562	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1		NM_006170		11	34	1	0	1.33987e-11	1	1.49799e-11	11	34		
PIANP	196500	broad.mit.edu	37	12	6804697	6804697	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6804697G>T	ENST00000540656.1	-	5	1064	c.726C>A	c.(724-726)ttC>ttA	p.F242L	PIANP_ENST00000320591.5_Missense_Mutation_p.F242L|PIANP_ENST00000534837.1_Missense_Mutation_p.F242L	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	242						integral component of membrane (GO:0016021)		p.F242F(2)									GTGAGTCCCCGAAGGCCCCCA	0.692																																						uc001qqf.1		NaN																	2	Substitution - coding silent(2)		lung(2)		0						c.(724-726)TTC>TTA		hypothetical protein LOC196500 precursor							32.0	34.0	34.0					12																	6804697		1949	4130	6079	SO:0001583	missense	196500					integral to membrane		g.chr12:6804697G>T	BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"""PILR-associating neural protein"""		"""chromosome 12 open reading frame 53"""	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.726C>A	12.37:g.6804697G>T	ENSP00000442157:p.Phe242Leu					C12orf53_uc001qqg.1_Missense_Mutation_p.F242L	p.F242L	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN			5	802	-			242			Cytoplasmic (Potential).		A8K0T3|B3KPF7|B3KRI6|Q6UX35	Missense_Mutation	SNP	ENST00000540656.1	37	c.726C>A	CCDS44818.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146272	0.37923	.	.	ENSG00000139200	ENST00000540656;ENST00000320591;ENST00000534837;ENST00000439553	T;T;T	0.49432	0.78;0.78;0.78	3.58	-0.267	0.12938	.	0.073837	0.56097	U	0.000035	T	0.22551	0.0544	N	0.08118	0	0.26531	N	0.974253	B	0.13145	0.007	B	0.06405	0.002	T	0.11036	-1.0604	10	0.37606	T	0.19	-6.642	7.8961	0.29708	0.344:0.0:0.656:0.0	.	242	Q8IYJ0	CL053_HUMAN	L	242;242;242;216	ENSP00000442157:F242L;ENSP00000317818:F242L;ENSP00000443919:F242L	ENSP00000317818:F242L	F	-	3	2	C12orf53	6674958	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	0.661000	0.25023	-0.308000	0.08792	0.313000	0.20887	TTC		0.692	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400524.1		NM_153685		11	45	1	0	0.000673444	1	0.000690993	11	45		
GNB3	2784	broad.mit.edu	37	12	6954828	6954828	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6954828G>A	ENST00000229264.3	+	10	1183	c.778G>A	c.(778-780)Gag>Aag	p.E260K	CDCA3_ENST00000604599.1_5'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.E259K|CDCA3_ENST00000422785.3_3'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	260					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGCAGACCAGGAGCTGATCTG	0.607																																						uc001qrd.2		NaN																	0					0						c.(778-780)GAG>AAG		guanine nucleotide-binding protein, beta-3							128.0	116.0	120.0					12																	6954828		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954828G>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.778G>A	12.37:g.6954828G>A	ENSP00000229264:p.Glu260Lys					GNB3_uc001qrc.2_Missense_Mutation_p.E216K|GNB3_uc009zfe.2_Missense_Mutation_p.E259K|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA	p.E260K	NM_002075	NP_002066	P16520	GBB3_HUMAN			10	1183	+			260					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.778G>A	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806403	0.70682	.	.	ENSG00000111664	ENST00000229264;ENST00000435982;ENST00000537035	T;T;T	0.01313	5.02;5.02;5.03	4.49	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052597	0.85682	D	0.000000	T	0.07413	0.0187	M	0.69248	2.105	0.80722	D	1	D;D	0.67145	0.996;0.992	D;P	0.69479	0.964;0.872	T	0.12116	-1.0560	10	0.56958	D	0.05	-6.3783	17.3724	0.87382	0.0:0.0:1.0:0.0	.	259;260	E9PCP0;P16520	.;GBB3_HUMAN	K	260;259;219	ENSP00000229264:E260K;ENSP00000414734:E259K;ENSP00000445967:E219K	ENSP00000229264:E260K	E	+	1	0	GNB3	6825089	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	9.657000	0.98554	2.313000	0.78055	0.561000	0.74099	GAG		0.607	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1		NM_002075		47	135	0	0	0	1	0	47	135		
ZNF705A	440077	broad.mit.edu	37	12	8329747	8329747	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:8329747C>G	ENST00000359286.4	+	5	560	c.471C>G	c.(469-471)ttC>ttG	p.F157L		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		GTAATCTTTTCTCCCCTAAAC	0.373																																						uc001qud.1		NaN																	0					0						c.(469-471)TTC>TTG		zinc finger protein 705A							160.0	172.0	168.0					12																	8329747		2203	4300	6503	SO:0001583	missense	440077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:8329747C>G	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"""Zinc fingers, C2H2-type"", ""-"""	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.471C>G	12.37:g.8329747C>G	ENSP00000352233:p.Phe157Leu						p.F157L	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN		Kidney(36;0.0877)	5	543	+			157						Missense_Mutation	SNP	ENST00000359286.4	37	c.471C>G	CCDS31737.1	.	.	.	.	.	.	.	.	.	.	.	0.053	-1.244048	0.01481	.	.	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.11063	2.81;2.81	1.35	-2.7	0.06004	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37079	-0.9721	9	0.51188	T	0.08	.	3.9469	0.09352	0.4181:0.4217:0.1602:0.0	.	157	Q6ZN79	Z705A_HUMAN	L	157	ENSP00000379816:F157L;ENSP00000352233:F157L	ENSP00000352233:F157L	F	+	3	2	ZNF705A	8221014	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.431000	0.00036	-1.113000	0.02981	-1.524000	0.00929	TTC		0.373	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1		NM_001004328		43	227	0	0	0	1	0	43	227		
PZP	5858	broad.mit.edu	37	12	9305777	9305777	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:9305777C>G	ENST00000261336.2	-	30	3965	c.3937G>C	c.(3937-3939)Gag>Cag	p.E1313Q	PZP_ENST00000381997.2_Missense_Mutation_p.E1099Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1313					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCAGGGAGCTCTGGCAATGAG	0.433																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(3937-3939)GAG>CAG		pregnancy-zone protein precursor							159.0	160.0	160.0					12																	9305777		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9305777C>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3937G>C	12.37:g.9305777C>G	ENSP00000261336:p.Glu1313Gln					PZP_uc009zgl.2_Missense_Mutation_p.E1099Q	p.E1313Q	NM_002864	NP_002855					30	3966	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.3937G>C	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	2.139	-0.397285	0.04899	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.34072	1.57;1.38	3.92	-0.382	0.12481	.	0.181808	0.33144	U	0.005235	T	0.22360	0.0539	N	0.25245	0.725	0.09310	N	0.999999	P;B	0.49635	0.926;0.04	P;B	0.47626	0.552;0.04	T	0.21518	-1.0243	10	0.21540	T	0.41	.	4.8578	0.13568	0.1409:0.4542:0.0:0.4049	.	1099;1313	P20742-2;P20742	.;PZP_HUMAN	Q	1313;1099	ENSP00000261336:E1313Q;ENSP00000371427:E1099Q	ENSP00000261336:E1313Q	E	-	1	0	PZP	9197044	0.000000	0.05858	0.563000	0.28383	0.190000	0.23558	-0.383000	0.07398	-0.190000	0.10465	0.557000	0.71058	GAG		0.433	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1		NM_002864		60	137	0	0	0	1	0	60	137		
PZP	5858	broad.mit.edu	37	12	9321515	9321515	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:9321515G>C	ENST00000261336.2	-	17	2085	c.2057C>G	c.(2056-2058)tCa>tGa	p.S686*	PZP_ENST00000381997.2_Nonsense_Mutation_p.S555*|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	686	Bait region.				female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGGGATGACTGAACACGACTT	0.368																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(2056-2058)TCA>TGA		pregnancy-zone protein precursor							127.0	127.0	127.0					12																	9321515		2203	4300	6503	SO:0001587	stop_gained	5858							g.chr12:9321515G>C	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2057C>G	12.37:g.9321515G>C	ENSP00000261336:p.Ser686*					PZP_uc009zgl.2_Nonsense_Mutation_p.S555*|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_Nonsense_Mutation_p.S18*	p.S686*	NM_002864	NP_002855					17	2086	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Nonsense_Mutation	SNP	ENST00000261336.2	37	c.2057C>G	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009596	0.54361	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	.	.	.	2.24	0.355	0.16069	.	0.378699	0.21485	U	0.073764	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	4.2456	0.10670	0.3621:0.0:0.6379:0.0	.	.	.	.	X	686;555	.	ENSP00000261336:S686X	S	-	2	0	PZP	9212782	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.225000	0.02956	0.078000	0.16900	-0.253000	0.11424	TCA		0.368	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1		NM_002864		12	84	0	0	0	1	0	12	84		
DUSP16	80824	broad.mit.edu	37	12	12673996	12673996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:12673996C>T	ENST00000228862.2	-	2	668	c.37G>A	c.(37-39)Gag>Aag	p.E13K	DUSP16_ENST00000298573.4_Missense_Mutation_p.E13K	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	13					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ACCAACCTCTCAGTAACAATT	0.438																																					Ovarian(158;443 1896 15437 36069 46477)	uc001rao.1		NaN																	0					0						c.(37-39)GAG>AAG		dual specificity phosphatase 16							128.0	111.0	117.0					12																	12673996		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12673996C>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.37G>A	12.37:g.12673996C>T	ENSP00000228862:p.Glu13Lys					DUSP16_uc001ran.1_5'UTR	p.E13K	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	2	669	-		Prostate(47;0.0687)	13					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.37G>A	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045218	0.36085	.	.	ENSG00000111266	ENST00000228862;ENST00000298573;ENST00000539940	T;T;T	0.76839	0.82;0.82;-1.05	5.74	4.85	0.62838	Rhodanese-like (3);	0.133060	0.50627	D	0.000106	T	0.68824	0.3043	L	0.39245	1.2	0.50632	D	0.999883	B	0.20368	0.044	B	0.25759	0.063	T	0.62253	-0.6893	10	0.09590	T	0.72	.	14.6629	0.68885	0.0:0.9302:0.0:0.0698	.	13	Q9BY84	DUS16_HUMAN	K	13	ENSP00000228862:E13K;ENSP00000298573:E13K;ENSP00000443039:E13K	ENSP00000228862:E13K	E	-	1	0	DUSP16	12565263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.311000	0.65786	1.414000	0.47017	0.655000	0.94253	GAG		0.438	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1		NM_030640		7	31	0	0	0	1	0	7	31		
KIAA1467	57613	broad.mit.edu	37	12	13238096	13238096	+	IGR	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:13238096G>C	ENST00000197268.8	+	0	4808				GSG1_ENST00000337630.6_Missense_Mutation_p.F240L|GSG1_ENST00000537302.1_Missense_Mutation_p.F212L|GSG1_ENST00000351606.6_Missense_Mutation_p.Q318E|GSG1_ENST00000324458.8_Missense_Mutation_p.F276L|GSG1_ENST00000396302.3_Missense_Mutation_p.Q282E|GSG1_ENST00000432710.2_Missense_Mutation_p.F253L|GSG1_ENST00000457134.2_Missense_Mutation_p.F189L|GSG1_ENST00000396310.2_Missense_Mutation_p.F209L	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCTTGCACTTGAACTCCAGCA	0.557																																						uc001rbn.2		NaN																	0					0						c.(826-828)TTC>TTG		germ cell associated 1 isoform 4							93.0	64.0	74.0					12																	13238096		2203	4300	6503	SO:0001628	intergenic_variant	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13238096G>C	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67			12.37:g.13238096G>C						GSG1_uc001rbj.2_Missense_Mutation_p.F240L|GSG1_uc001rbk.2_Missense_Mutation_p.Q282E|GSG1_uc001rbl.2_Missense_Mutation_p.F212L|GSG1_uc001rbm.2_Missense_Mutation_p.F189L|GSG1_uc001rbo.2_Missense_Mutation_p.Q318E|GSG1_uc001rbp.2_Missense_Mutation_p.F253L|GSG1_uc001rbq.1_Missense_Mutation_p.Q318E	p.F276L	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	7	1001	-		Prostate(47;0.183)	263					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.828C>G	CCDS31750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.336408|4.336408	0.81801|0.81801	.|.	.|.	ENSG00000111305|ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000457134;ENST00000432710;ENST00000537302|ENST00000396302;ENST00000351606	T;T;T;T;T;T|T;T	0.36699|0.34472	1.45;1.4;1.26;1.24;1.43;1.26|1.37;1.36	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.201768|.	0.33127|.	U|.	0.005256|.	T|T	0.36853|0.36853	0.0982|0.0982	M|M	0.79123|0.79123	2.44|2.44	0.51012|0.51012	D|D	0.999905|0.999905	D;D;D;D;D|P;P;P	0.71674|0.42518	0.998;0.995;0.99;0.99;0.995|0.782;0.782;0.675	D;D;P;P;D|B;B;B	0.66847|0.38712	0.947;0.94;0.857;0.899;0.94|0.28;0.28;0.091	T|T	0.24693|0.24693	-1.0153|-1.0153	10|9	0.29301|0.09338	T|T	0.29|0.73	.|.	12.9995|12.9995	0.58667|0.58667	0.0735:0.0:0.9265:0.0|0.0735:0.0:0.9265:0.0	.|.	253;263;189;212;240|318;318;282	Q2KHT4-6;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A1|Q2KHT4-7;G3XAB9;F1T0A0	.;GSG1_HUMAN;.;.;.|.;.;.	L|E	240;276;209;189;253;212|282;318	ENSP00000336816:F240L;ENSP00000320838:F276L;ENSP00000379604:F209L;ENSP00000398384:F189L;ENSP00000405032:F253L;ENSP00000441718:F212L|ENSP00000379596:Q282E;ENSP00000336857:Q318E	ENSP00000320838:F276L|ENSP00000336857:Q318E	F|Q	-|-	3|1	2|0	GSG1|GSG1	13129363|13129363	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.465000|5.465000	0.66725|0.66725	2.665000|2.665000	0.90641|0.90641	0.561000|0.561000	0.74099|0.74099	TTC|CAA		0.557	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1		NM_020853		6	58	0	0	0	1	0	6	58		
C2CD5	9847	broad.mit.edu	37	12	22697070	22697070	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:22697070C>T	ENST00000333957.4	-	2	270	c.15G>A	c.(13-15)ctG>ctA	p.L5L	C2CD5_ENST00000396028.2_Silent_p.L5L|C2CD5_ENST00000542676.1_Silent_p.L5L|C2CD5_ENST00000446597.1_Silent_p.L5L|C2CD5_ENST00000536386.1_Silent_p.L5L|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000545552.1_Silent_p.L5L	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	5	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTTTCACCTTCAGCTTCCCTG	0.627																																						uc001rfq.2		NaN																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(13-15)CTG>CTA		hypothetical protein LOC9847							157.0	120.0	133.0					12																	22697070		2203	4300	6503	SO:0001819	synonymous_variant	9847						protein binding	g.chr12:22697070C>T	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.15G>A	12.37:g.22697070C>T						KIAA0528_uc010sis.1_Silent_p.L5L|KIAA0528_uc010sit.1_Silent_p.L5L|KIAA0528_uc010siu.1_Silent_p.L5L|KIAA0528_uc001rfr.2_Silent_p.L5L|KIAA0528_uc009ziy.1_Silent_p.L5L	p.L5L	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			2	243	-			5			C2.		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	ENST00000333957.4	37	c.15G>A	CCDS31758.1																																																																																				0.627	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1		NM_014802		21	51	0	0	0	1	0	21	51		
ITPR2	3709	broad.mit.edu	37	12	26714780	26714780	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:26714780C>A	ENST00000381340.3	-	35	5152	c.4736G>T	c.(4735-4737)aGa>aTa	p.R1579I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1579					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGCTGATAGTCTCCAACCCAT	0.448																																						uc001rhg.2		NaN																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(4735-4737)AGA>ATA		inositol 1,4,5-triphosphate receptor, type 2							62.0	61.0	61.0					12																	26714780		1886	4131	6017	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26714780C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4736G>T	12.37:g.26714780C>A	ENSP00000370744:p.Arg1579Ile						p.R1579I	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			35	5153	-	Colorectal(261;0.0847)		1579			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.4736G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637467	0.67130	.	.	ENSG00000123104	ENST00000381340	T	0.62639	0.01	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	L	0.56769	1.78	0.80722	D	1	P	0.36944	0.574	P	0.49192	0.602	T	0.69647	-0.5089	10	0.38643	T	0.18	.	17.7356	0.88391	0.0:1.0:0.0:0.0	.	1579	Q14571	ITPR2_HUMAN	I	1579	ENSP00000370744:R1579I	ENSP00000370744:R1579I	R	-	2	0	ITPR2	26606047	1.000000	0.71417	0.931000	0.37212	0.987000	0.75469	7.275000	0.78548	2.409000	0.81822	0.655000	0.94253	AGA		0.448	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223		9	52	1	0	3.09899e-07	1	3.31189e-07	9	52		
OVCH1	341350	broad.mit.edu	37	12	29604325	29604325	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:29604325G>C	ENST00000318184.5	-	22	2707	c.2708C>G	c.(2707-2709)tCa>tGa	p.S903*	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	903	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AATTAGAACTGAGTCTTGACA	0.438																																						uc001rix.1		NaN																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(2707-2709)TCA>TGA		ovochymase 1 precursor							68.0	64.0	65.0					12																	29604325		1881	4108	5989	SO:0001587	stop_gained	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29604325G>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2708C>G	12.37:g.29604325G>C	ENSP00000326708:p.Ser903*						p.S903*	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			22	2708	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		903			CUB 3.			Nonsense_Mutation	SNP	ENST00000318184.5	37	c.2708C>G		.	.	.	.	.	.	.	.	.	.	G	34	5.351191	0.95830	.	.	ENSG00000187950	ENST00000318184	.	.	.	2.89	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.6886	0.17817	0.1513:0.0:0.8487:0.0	.	.	.	.	X	903	.	ENSP00000326708:S903X	S	-	2	0	OVCH1	29495592	0.164000	0.22935	0.011000	0.14972	0.173000	0.22820	1.250000	0.32850	0.782000	0.33613	0.455000	0.32223	TCA		0.438	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2		NM_183378		6	36	0	0	0	1	0	6	36		
KIF21A	55605	broad.mit.edu	37	12	39726897	39726897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:39726897G>A	ENST00000361418.5	-	19	2515	c.2500C>T	c.(2500-2502)Cgt>Tgt	p.R834C	KIF21A_ENST00000544797.2_Missense_Mutation_p.R821C|KIF21A_ENST00000395670.3_Missense_Mutation_p.R834C|KIF21A_ENST00000361961.3_Missense_Mutation_p.R821C|KIF21A_ENST00000541463.2_Missense_Mutation_p.R798C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	834					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ACTTGCCGACGAAGAGCCGTA	0.448																																						uc001rly.2		NaN																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(2500-2502)CGT>TGT		kinesin family member 21A							127.0	122.0	123.0					12																	39726897		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39726897G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2500C>T	12.37:g.39726897G>A	ENSP00000354878:p.Arg834Cys					KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.R151C|KIF21A_uc001rlx.2_Missense_Mutation_p.R821C|KIF21A_uc001rlz.2_Missense_Mutation_p.R798C|KIF21A_uc010skl.1_Missense_Mutation_p.R821C	p.R834C	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			19	2646	-		Lung NSC(34;0.179)|all_lung(34;0.213)	834					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2500C>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850106	0.71603	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.74209	1.95;1.95;1.95;1.95;-0.82	5.17	4.26	0.50523	.	0.000000	0.50627	D	0.000102	D	0.85708	0.5759	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.994;0.999;0.998;1.0	P;P;D;P;D	0.68765	0.855;0.742;0.932;0.809;0.96	D	0.87806	0.2628	10	0.87932	D	0	.	14.8723	0.70468	0.0:0.0:0.8553:0.1447	.	821;798;834;821;834	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;.;KI21A_HUMAN;.;.	C	821;834;834;821;834;798	ENSP00000354851:R821C;ENSP00000379029:R834C;ENSP00000445606:R821C;ENSP00000354878:R834C;ENSP00000438075:R798C	ENSP00000344501:R834C	R	-	1	0	KIF21A	38013164	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	4.275000	0.58927	1.134000	0.42165	0.557000	0.71058	CGT		0.448	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641		49	93	0	0	0	1	0	49	93		
KIF21A	55605	broad.mit.edu	37	12	39751995	39751995	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:39751995G>C	ENST00000361418.5	-	8	1215	c.1200C>G	c.(1198-1200)ctC>ctG	p.L400L	KIF21A_ENST00000544797.2_Silent_p.L400L|KIF21A_ENST00000395670.3_Silent_p.L400L|KIF21A_ENST00000361961.3_Silent_p.L400L|KIF21A_ENST00000541463.2_Silent_p.L400L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	400					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTACTCCATGAGCTCCATCT	0.398																																						uc001rly.2		NaN																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(1198-1200)CTC>CTG		kinesin family member 21A							336.0	308.0	317.0					12																	39751995		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39751995G>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1200C>G	12.37:g.39751995G>C						KIF21A_uc001rlx.2_Silent_p.L400L|KIF21A_uc001rlz.2_Silent_p.L400L|KIF21A_uc010skl.1_Silent_p.L400L|KIF21A_uc001rma.1_Silent_p.L408L	p.L400L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			8	1346	-		Lung NSC(34;0.179)|all_lung(34;0.213)	400			Potential.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1200C>G	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641		35	206	0	0	0	1	0	35	206		
ABCD2	225	broad.mit.edu	37	12	40001459	40001459	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:40001459C>T	ENST00000308666.3	-	3	1313	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	393	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTAAATTTCGAGCAGTGGT	0.323																																						uc001rmb.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1177-1179)CGA>CAA		ATP-binding cassette, sub-family D, member 2							95.0	99.0	98.0					12																	40001459		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40001459C>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1178G>A	12.37:g.40001459C>T	ENSP00000310688:p.Arg393Gln						p.R393Q	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			3	1604	-			393			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.1178G>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479092	0.96307	.	.	ENSG00000173208	ENST00000308666	D	0.96427	-4.01	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	M	0.91249	3.19	0.58432	D	0.999995	D	0.71674	0.998	D	0.64687	0.928	D	0.99084	1.0838	9	.	.	.	-26.4355	19.209	0.93747	0.0:1.0:0.0:0.0	.	393	Q9UBJ2	ABCD2_HUMAN	Q	393	ENSP00000310688:R393Q	.	R	-	2	0	ABCD2	38287726	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	7.424000	0.80242	2.536000	0.85505	0.563000	0.77884	CGA		0.323	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1		NM_005164		26	71	0	0	0	1	0	26	71		
CNTN1	1272	broad.mit.edu	37	12	41312446	41312446	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:41312446G>A	ENST00000551295.2	+	4	217	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CNTN1_ENST00000547849.1_Missense_Mutation_p.E34K|CNTN1_ENST00000348761.2_Missense_Mutation_p.E23K|CNTN1_ENST00000347616.1_Missense_Mutation_p.E34K|CNTN1_ENST00000360099.3_Missense_Mutation_p.E34K|CNTN1_ENST00000547702.1_Missense_Mutation_p.E34K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	34					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTAGTTTCTGAGGAAGACAA	0.323																																						uc001rmm.1		NaN																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(100-102)GAG>AAG		contactin 1 isoform 1 precursor							63.0	69.0	67.0					12																	41312446		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41312446G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.100G>A	12.37:g.41312446G>A	ENSP00000447006:p.Glu34Lys					CNTN1_uc009zjy.1_Missense_Mutation_p.E34K|CNTN1_uc001rmn.1_Missense_Mutation_p.E23K|CNTN1_uc001rmo.2_Missense_Mutation_p.E34K	p.E34K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			4	213	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	34					A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.100G>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628260	0.67015	.	.	ENSG00000018236	ENST00000547702;ENST00000551424;ENST00000551295;ENST00000548005;ENST00000552248;ENST00000547849;ENST00000552913;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.64085	-0.08;0.33;-0.08;0.33;-0.08;0.26	5.36	5.36	0.76844	.	0.052139	0.85682	D	0.000000	T	0.43233	0.1238	N	0.08118	0	0.53688	D	0.999979	B;B;B	0.21071	0.018;0.051;0.031	B;B;B	0.18871	0.016;0.023;0.007	T	0.36114	-0.9761	10	0.11794	T	0.64	.	19.4779	0.94996	0.0:0.0:1.0:0.0	.	34;23;34	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	K	34;34;34;34;34;34;34;34;34;23	ENSP00000448004:E34K;ENSP00000447006:E34K;ENSP00000448653:E34K;ENSP00000325660:E34K;ENSP00000353213:E34K;ENSP00000261160:E23K	ENSP00000325660:E34K	E	+	1	0	CNTN1	39598713	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.500000	0.90498	2.682000	0.91365	0.585000	0.79938	GAG		0.323	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2		NM_001843		7	40	0	0	0	1	0	7	40		
PLEKHA8P1	51054	broad.mit.edu	37	12	45567593	45567593	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:45567593C>T	ENST00000256692.5	-	0	1092					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGCCTTCCTCCCAGAGGCAT	0.403																																						uc001rom.1		NaN																	0					0						c.(556-558)GAG>AAG		pleckstrin homology domain containing, family A							200.0	185.0	190.0					12																	45567593		2203	4300	6503			51054							g.chr12:45567593C>T	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567593C>T						PLEKHA9_uc009zke.2_Missense_Mutation_p.E186K	p.E186K	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	1093	-	Lung SC(27;0.192)|Renal(347;0.236)								Missense_Mutation	SNP	ENST00000256692.5	37	c.556G>A																																																																																					0.403	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1		NR_037144		79	114	0	0	0	1	0	79	114		
TMEM106C	79022	broad.mit.edu	37	12	48358114	48358114	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48358114A>T	ENST00000429772.2	+	2	208	c.95A>T	c.(94-96)gAa>gTa	p.E32V	TMEM106C_ENST00000256686.6_Missense_Mutation_p.E32V|TMEM106C_ENST00000550552.1_Missense_Mutation_p.E32V|TMEM106C_ENST00000449758.2_Missense_Mutation_p.E32V|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000549288.1_Missense_Mutation_p.E32V|TMEM106C_ENST00000552561.1_Missense_Mutation_p.E32V	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	32						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		CGAGAGCAGGAAGAAGCCATT	0.562																																						uc001rqp.2		NaN																	0					0						c.(94-96)GAA>GTA		transmembrane protein 106C isoform a							74.0	69.0	71.0					12																	48358114		2203	4300	6503	SO:0001583	missense	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48358114A>T	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.95A>T	12.37:g.48358114A>T	ENSP00000400471:p.Glu32Val					TMEM106C_uc001rqo.2_Missense_Mutation_p.E32V|TMEM106C_uc001rqr.2_Missense_Mutation_p.E32V|TMEM106C_uc001rqq.2_Missense_Mutation_p.E32V	p.E32V	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	2	210	+		Acute lymphoblastic leukemia(13;0.11)	32					B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	c.95A>T	CCDS8758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.13|19.13	3.768104|3.768104	0.69878|0.69878	.|.	.|.	ENSG00000134291|ENSG00000134291	ENST00000256686;ENST00000549288;ENST00000552561;ENST00000550552;ENST00000429772;ENST00000449758|ENST00000548965	T;T;T;T;T;T|.	0.24908|.	1.83;1.83;1.83;1.83;1.83;1.83|.	4.11|4.11	4.11|4.11	0.48088|0.48088	.|.	0.483250|.	0.21647|.	N|.	0.071246|.	T|.	0.53965|.	0.1829|.	L|L	0.34521|0.34521	1.04|1.04	0.37667|0.37667	D|D	0.922972|0.922972	P;B|.	0.46784|.	0.884;0.144|.	P;B|.	0.46049|.	0.502;0.206|.	T|.	0.56523|.	-0.7965|.	10|.	0.41790|.	T|.	0.15|.	-8.5243|-8.5243	12.9275|12.9275	0.58268|0.58268	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	32;32|.	Q9BVX2;Q9BVX2-2|.	T106C_HUMAN;.|.	V|X	32|31	ENSP00000256686:E32V;ENSP00000447524:E32V;ENSP00000446657:E32V;ENSP00000449737:E32V;ENSP00000400471:E32V;ENSP00000402705:E32V|.	ENSP00000256686:E32V|.	E|K	+|+	2|1	0|0	TMEM106C|TMEM106C	46644381|46644381	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.995000|0.995000	0.86356|0.86356	3.485000|3.485000	0.53208|0.53208	2.085000|2.085000	0.62840|0.62840	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.562	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1		NM_024056		8	38	0	0	0	1	0	8	38		
SENP1	29843	broad.mit.edu	37	12	48482603	48482603	+	Missense_Mutation	SNP	C	C	T	rs553082909		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48482603C>T	ENST00000004980.5	-	5	839	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	SENP1_ENST00000551330.1_Missense_Mutation_p.E121K|SENP1_ENST00000549595.1_Missense_Mutation_p.E121K|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.E121K|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.E121K			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	121	Ser-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTTCGGGTTTCGAGGTAAAGA	0.403																																						uc001rqx.2		NaN																	0				pancreas(2)|lung(1)	3						c.(361-363)GAA>AAA		sentrin/SUMO-specific protease 1							132.0	115.0	120.0					12																	48482603		1824	4089	5913	SO:0001583	missense	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48482603C>T	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.361G>A	12.37:g.48482603C>T	ENSP00000004980:p.Glu121Lys					SENP1_uc001rqw.2_Missense_Mutation_p.E121K|SENP1_uc001rqy.2_5'UTR|SENP1_uc001rqz.2_5'UTR|SENP1_uc009zkx.2_Missense_Mutation_p.E121K	p.E121K	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN			5	807	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	121			Ser-rich.		A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	c.361G>A	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570621	0.65765	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518;ENST00000551798	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.17	4.26	0.50523	.	0.082580	0.50627	D	0.000113	T	0.14313	0.0346	L	0.27053	0.805	0.80722	D	1	P;D	0.54047	0.94;0.964	B;B	0.43867	0.251;0.434	T	0.02437	-1.1159	10	0.49607	T	0.09	-15.0355	12.5583	0.56267	0.1671:0.8329:0.0:0.0	.	121;121	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	K	121;121;121;121;121;114	ENSP00000004980:E121K;ENSP00000394791:E121K;ENSP00000446681:E121K;ENSP00000450076:E121K;ENSP00000447328:E121K	ENSP00000004980:E121K	E	-	1	0	SENP1	46768870	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.202000	0.58446	1.287000	0.44583	0.555000	0.69702	GAA		0.403	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1		NM_014554		5	9	0	0	0	1	0	5	9		
OR10AD1	121275	broad.mit.edu	37	12	48597027	48597027	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48597027G>T	ENST00000310248.2	-	1	143	c.49C>A	c.(49-51)Cag>Aag	p.Q17K		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GAGCTCTGCTGAAAGCCCACG	0.507																																						uc001rrl.1		NaN																	0				ovary(1)	1						c.(49-51)CAG>AAG		olfactory receptor, family 10, subfamily AD,							68.0	62.0	64.0					12																	48597027		2203	4300	6503	SO:0001583	missense	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48597027G>T		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.49C>A	12.37:g.48597027G>T	ENSP00000308689:p.Gln17Lys						p.Q17K	NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN			1	49	-			17			Extracellular (Potential).		B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	c.49C>A	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360424	0.24598	.	.	ENSG00000172640	ENST00000310248	T	0.01068	5.38	5.36	2.08	0.27032	.	0.205916	0.24224	N	0.040405	T	0.01061	0.0035	L	0.38838	1.175	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.48246	-0.9052	10	0.87932	D	0	-9.6115	2.6357	0.04957	0.2952:0.4619:0.1454:0.0975	.	17	Q8NGE0	O10AD_HUMAN	K	17	ENSP00000308689:Q17K	ENSP00000308689:Q17K	Q	-	1	0	OR10AD1	46883294	0.000000	0.05858	1.000000	0.80357	0.298000	0.27526	-0.379000	0.07437	0.752000	0.32923	-0.344000	0.07964	CAG		0.507	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1				6	52	1	0	0.248553	1	0.24875	6	52		
KMT2D	8085	broad.mit.edu	37	12	49420241	49420241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:49420241G>A	ENST00000301067.7	-	48	15507	c.15508C>T	c.(15508-15510)Cag>Tag	p.Q5170*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5170					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCTCCCCGCTGAATGATGCTA	0.572																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15508-15510)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							50.0	52.0	52.0					12																	49420241		2122	4216	6338	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420241G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15508C>T	12.37:g.49420241G>A	ENSP00000301067:p.Gln5170*	HNSCC(34;0.089)					p.Q5170*	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15508	-			5170					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.15508C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	56	25.420946	0.99965	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.9	4.9	0.64082	.	0.000000	0.34828	N	0.003645	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2324	0.86988	0.0:0.0:1.0:0.0	.	.	.	.	X	5170	.	ENSP00000301067:Q5170X	Q	-	1	0	MLL2	47706508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.447000	0.82792	0.655000	0.94253	CAG		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				5	43	0	0	0	1	0	5	43		
FMNL3	91010	broad.mit.edu	37	12	50047084	50047084	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:50047084C>G	ENST00000293590.5	-	13	1481	c.1248G>C	c.(1246-1248)gaG>gaC	p.E416D	FMNL3_ENST00000335154.5_Missense_Mutation_p.E416D|FMNL3_ENST00000550488.1_Missense_Mutation_p.E416D|FMNL3_ENST00000352151.5_Missense_Mutation_p.E365D			Q8IVF7	FMNL3_HUMAN	formin-like 3	416	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGTTTTCATTCTCTAGGTCCA	0.532																																						uc001ruv.1		NaN																	0				breast(2)|pancreas(2)	4						c.(1246-1248)GAG>GAC		formin-like 3 isoform 1							170.0	171.0	170.0					12																	50047084		1979	4163	6142	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50047084C>G	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1248G>C	12.37:g.50047084C>G	ENSP00000293590:p.Glu416Asp					FMNL3_uc001ruw.1_Missense_Mutation_p.E365D|FMNL3_uc001rut.1_5'Flank|FMNL3_uc001ruu.1_Missense_Mutation_p.E266D	p.E416D	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			13	1482	-			416			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1248G>C		.	.	.	.	.	.	.	.	.	.	C	19.89	3.911089	0.72983	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.58	-0.793	0.10922	.	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	M	0.87900	2.915	0.53005	D	0.999962	D;D	0.61697	0.99;0.99	D;D	0.73380	0.98;0.979	D	0.91663	0.5344	10	0.52906	T	0.07	.	10.7707	0.46321	0.0:0.4685:0.0:0.5315	.	365;416	Q8IVF7-2;Q8IVF7-3	.;.	D	416;416;365;416	ENSP00000335655:E416D;ENSP00000447479:E416D;ENSP00000344311:E365D;ENSP00000293590:E416D	ENSP00000293590:E416D	E	-	3	2	FMNL3	48333351	0.992000	0.36948	0.988000	0.46212	0.883000	0.51084	0.372000	0.20467	-0.093000	0.12396	-0.749000	0.03505	GAG		0.532	FMNL3-201	KNOWN	basic	protein_coding	protein_coding			NM_175736		25	128	0	0	0	1	0	25	128		
LIMA1	51474	broad.mit.edu	37	12	50570907	50570907	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:50570907G>C	ENST00000341247.4	-	11	2369	c.2220C>G	c.(2218-2220)ctC>ctG	p.L740L	LIMA1_ENST00000547825.1_Silent_p.L438L|LIMA1_ENST00000552823.1_Silent_p.L580L|LIMA1_ENST00000552909.1_Silent_p.L579L|LIMA1_ENST00000552491.1_Silent_p.L437L|LIMA1_ENST00000552783.1_Silent_p.L581L|LIMA1_ENST00000394943.3_Silent_p.L741L	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	740					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CTTCCACAGAGAGCTCTTTGA	0.423																																						uc001rwj.3		NaN																	0				ovary(1)	1						c.(2218-2220)CTC>CTG		LIM domain and actin binding 1 isoform b							275.0	271.0	272.0					12																	50570907		2203	4300	6503	SO:0001819	synonymous_variant	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50570907G>C	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.2220C>G	12.37:g.50570907G>C						LIMA1_uc001rwg.3_Silent_p.L438L|LIMA1_uc001rwh.3_Silent_p.L579L|LIMA1_uc001rwi.3_Silent_p.L581L|LIMA1_uc001rwk.3_Silent_p.L741L|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.L740L	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			11	2394	-			740					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	37	c.2220C>G	CCDS8802.1																																																																																				0.423	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357		60	274	0	0	0	1	0	60	274		
KRT6A	3853	broad.mit.edu	37	12	52882123	52882123	+	Silent	SNP	A	A	G	rs1132960		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:52882123A>G	ENST00000330722.6	-	7	1481	c.1413T>C	c.(1411-1413)ggT>ggC	p.G471G		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	471	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCACTCCTCACCCTCCAGCA	0.577													a|||	1	0.000199681	0.0	0.0014	5008	,	,		20530	0.0		0.0	False		,,,				2504	0.0					uc001sam.2		NaN																	0				ovary(4)|skin(1)	5						c.(1411-1413)GGT>GGC		keratin 6A							104.0	94.0	97.0					12																	52882123		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52882123A>G	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1413T>C	12.37:g.52882123A>G							p.G471G	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1622	-			471			Rod.|Coil 2.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.1413T>C	CCDS41786.1																																																																																				0.577	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2		NM_005554		18	101	0	0	0	1	0	18	101		
KRT5	3852	broad.mit.edu	37	12	52913532	52913532	+	Silent	SNP	G	G	A	rs267607443|rs61726460		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:52913532G>A	ENST00000252242.4	-	1	939	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	183	Coil 1A.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACCTTGTCGATGAAGGAGG	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20678	0.0		0.0	False		,,,				2504	0.0					uc001san.2		NaN																	0					0	GRCh37	CM045866	KRT5	M	rs61726460	c.(547-549)ATC>ATT		keratin 5		G		1,4405	2.1+/-5.4	0,1,2202	153.0	150.0	151.0		549	3.6	1.0	12		151	0,8600		0,0,4300	no	coding-synonymous	KRT5	NM_000424.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		183/591	52913532	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913532G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.549C>T	12.37:g.52913532G>A						KRT5_uc009zmh.2_Silent_p.I183I	p.I183I	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	712	-			183			Coil 1A.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.549C>T	CCDS8830.1																																																																																				0.468	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1				28	100	0	0	0	1	0	28	100		
RARG	5916	broad.mit.edu	37	12	53608346	53608346	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53608346C>T	ENST00000425354.2	-	6	1007	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	RARG_ENST00000394426.1_Missense_Mutation_p.E174K|RARG_ENST00000338561.5_Missense_Mutation_p.E163K|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.E152K|RARG_ENST00000327550.3_Missense_Mutation_p.E102K	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	174	Hinge.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGTGACCCTTCTTCCTTCACC	0.557																																						uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(520-522)GAA>AAA		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						177.0	155.0	163.0					12																	53608346		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53608346C>T	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.520G>A	12.37:g.53608346C>T	ENSP00000388510:p.Glu174Lys					RARG_uc001scd.2_Missense_Mutation_p.E163K|RARG_uc010sob.1_Missense_Mutation_p.E152K|RARG_uc001scf.2_Missense_Mutation_p.E174K|RARG_uc001scg.2_Missense_Mutation_p.E102K|RARG_uc010soc.1_Missense_Mutation_p.E53K|RARG_uc010sod.1_Missense_Mutation_p.E211K	p.E174K	NM_000966	NP_000957	P13631	RARG_HUMAN			6	1005	-			174			Hinge.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.520G>A	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.955136	0.34471	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.92911	-2.98;-2.98;-3.13;-2.93;-3.0	4.97	4.05	0.47172	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.91362	0.7275	L	0.57536	1.79	0.80722	D	1	B;D;P;B	0.58620	0.055;0.983;0.917;0.071	B;P;B;B	0.49301	0.07;0.606;0.445;0.065	D	0.89081	0.3476	10	0.19147	T	0.46	.	14.4372	0.67290	0.0:0.8511:0.1489:0.0	.	211;152;174;163	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	K	174;174;102;163;152;211	ENSP00000388510:E174K;ENSP00000377947:E174K;ENSP00000332695:E102K;ENSP00000343698:E163K;ENSP00000444335:E152K	ENSP00000332695:E102K	E	-	1	0	RARG	51894613	1.000000	0.71417	0.943000	0.38184	0.962000	0.63368	2.068000	0.41471	1.407000	0.46875	0.655000	0.94253	GAA		0.557	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		11	25	0	0	0	1	0	11	25		
SP7	121340	broad.mit.edu	37	12	53722170	53722170	+	Silent	SNP	C	C	T	rs372588044		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53722170C>T	ENST00000536324.2	-	3	1339	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	SP7_ENST00000303846.3_Silent_p.K352K|SP7_ENST00000537210.2_Silent_p.K334K	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	352					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGGTGAACTTCTTCTCCCGGG	0.622											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sct.2		NaN																	0					0						c.(1054-1056)AAG>AAA		osterix							53.0	62.0	59.0					12																	53722170		2198	4298	6496	SO:0001819	synonymous_variant	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722170C>T	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.1056G>A	12.37:g.53722170C>T			OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	SP7_uc001scu.2_Silent_p.K334K|SP7_uc001scv.2_Silent_p.K352K	p.K352K	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN			2	1163	-			352					B3KY26|Q3MJ72|Q7Z718	Silent	SNP	ENST00000536324.2	37	c.1056G>A	CCDS44897.1																																																																																				0.622	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1				13	49	0	0	0	1	0	13	49		
SP1	6667	broad.mit.edu	37	12	53776785	53776785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53776785C>T	ENST00000327443.4	+	3	1152	c.1054C>T	c.(1054-1056)Caa>Taa	p.Q352*	SP1_ENST00000426431.2_Nonsense_Mutation_p.Q345*	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	352	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GACCAACTCTCAAGGCCAGAC	0.502																																						uc001scw.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1054-1056)CAA>TAA		Sp1 transcription factor isoform a							84.0	81.0	82.0					12																	53776785		2203	4300	6503	SO:0001587	stop_gained	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776785C>T	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1054C>T	12.37:g.53776785C>T	ENSP00000329357:p.Gln352*					SP1_uc010sog.1_Nonsense_Mutation_p.Q345*	p.Q352*	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1151	+			352			Transactivation domain B (Gln-rich).|Ser/Thr-rich.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Nonsense_Mutation	SNP	ENST00000327443.4	37	c.1054C>T	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562519	0.65538	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	.	.	.	4.41	4.41	0.53225	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	14.8993	0.70666	0.0:1.0:0.0:0.0	.	.	.	.	X	352;345	.	ENSP00000329357:Q352X	Q	+	1	0	SP1	52063052	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	5.225000	0.65294	2.471000	0.83476	0.467000	0.42956	CAA		0.502	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1				8	49	0	0	0	1	0	8	49		
SP1	6667	broad.mit.edu	37	12	53777068	53777068	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53777068C>G	ENST00000327443.4	+	3	1435	c.1337C>G	c.(1336-1338)tCt>tGt	p.S446C	SP1_ENST00000426431.2_Missense_Mutation_p.S439C	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	446	Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTTCCAAACTCTGGTCCCATC	0.557																																						uc001scw.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1336-1338)TCT>TGT		Sp1 transcription factor isoform a							115.0	122.0	120.0					12																	53777068		2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53777068C>G	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1337C>G	12.37:g.53777068C>G	ENSP00000329357:p.Ser446Cys					SP1_uc010sog.1_Missense_Mutation_p.S439C	p.S446C	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1434	+			446			Transactivation domain B (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.1337C>G	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409332	0.42715	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.09163	3.05;3.01	4.67	4.67	0.58626	.	0.121273	0.36482	N	0.002568	T	0.08670	0.0215	N	0.22421	0.69	0.44937	D	0.997959	P	0.52316	0.952	B	0.38327	0.271	T	0.12734	-1.0536	10	0.87932	D	0	.	16.8884	0.86081	0.0:1.0:0.0:0.0	.	446	P08047	SP1_HUMAN	C	446;439	ENSP00000329357:S446C;ENSP00000404263:S439C	ENSP00000329357:S446C	S	+	2	0	SP1	52063335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.379000	0.59575	2.595000	0.87683	0.467000	0.42956	TCT		0.557	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1				19	86	0	0	0	1	0	19	86		
AMHR2	269	broad.mit.edu	37	12	53825228	53825228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53825228C>T	ENST00000257863.4	+	11	1773	c.1693C>T	c.(1693-1695)Cag>Tag	p.Q565*	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Nonsense_Mutation_p.Q470*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	565					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CAGGAATCCTCAGCCTGCCTG	0.498																																						uc001scx.1		NaN																	0				ovary(1)|skin(1)	2						c.(1693-1695)CAG>TAG		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						129.0	108.0	115.0					12																	53825228		2203	4300	6503	SO:0001587	stop_gained	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53825228C>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1693C>T	12.37:g.53825228C>T	ENSP00000257863:p.Gln565*					AMHR2_uc009zmy.1_3'UTR	p.Q565*	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			11	1771	+			565			Cytoplasmic (Potential).		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Nonsense_Mutation	SNP	ENST00000257863.4	37	c.1693C>T	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208768	0.39003	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	.	.	.	4.39	-0.371	0.12525	.	.	.	.	.	.	.	.	.	.	.	0.24484	N	0.994331	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	3.9556	0.09388	0.0:0.2695:0.4089:0.3216	.	.	.	.	X	565;470	.	ENSP00000257863:Q565X	Q	+	1	0	AMHR2	52111495	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.415000	0.07106	-0.119000	0.11830	0.563000	0.77884	CAG		0.498	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1		NM_020547		32	45	0	0	0	1	0	32	45		
MAP3K12	7786	broad.mit.edu	37	12	53881144	53881144	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53881144G>A	ENST00000267079.2	-	2	257	c.32C>T	c.(31-33)tCt>tTt	p.S11F	MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.S11F|MAP3K12_ENST00000547488.1_Missense_Mutation_p.S11F	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	11					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AAAGGAAGGAGAGGGTGTTCG	0.597																																						uc001sdm.1		NaN																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(31-33)TCT>TTT		mitogen-activated protein kinase kinase kinase							113.0	93.0	100.0					12																	53881144		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53881144G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.32C>T	12.37:g.53881144G>A	ENSP00000267079:p.Ser11Phe					MAP3K12_uc001sdn.1_Missense_Mutation_p.S11F	p.S11F	NM_006301	NP_006292	Q12852	M3K12_HUMAN			2	130	-			11					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.32C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415626	0.83449	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035;ENST00000547151	D;T;T	0.84223	-1.82;-1.46;-1.46	5.03	5.03	0.67393	.	0.000000	0.45126	D	0.000385	D	0.87892	0.6292	L	0.27053	0.805	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.74348	0.983;0.962	D	0.89645	0.3865	10	0.87932	D	0	.	17.5046	0.87741	0.0:0.0:1.0:0.0	.	11;11	G3V1Y2;Q12852	.;M3K12_HUMAN	F	11	ENSP00000267079:S11F;ENSP00000449038:S11F;ENSP00000448689:S11F	ENSP00000267079:S11F	S	-	2	0	MAP3K12	52167411	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.958000	0.76025	2.513000	0.84729	0.462000	0.41574	TCT		0.597	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1		NM_006301		26	47	0	0	0	1	0	26	47		
HOXC8	3224	broad.mit.edu	37	12	54403245	54403245	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:54403245C>G	ENST00000040584.4	+	1	414	c.177C>G	c.(175-177)ttC>ttG	p.F59L	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	59					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						TTCAAGACTTCTTCCACCACG	0.652																																					GBM(197;701 2226 7002 18822 41696)	uc001ser.2		NaN																	0				ovary(1)	1						c.(175-177)TTC>TTG		homeobox C8							107.0	118.0	114.0					12																	54403245		2203	4300	6503	SO:0001583	missense	3224					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54403245C>G	X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.177C>G	12.37:g.54403245C>G	ENSP00000040584:p.Phe59Leu						p.F59L	NM_022658	NP_073149	P31273	HXC8_HUMAN			1	356	+			59					A8K4J4|O15221|O15362	Missense_Mutation	SNP	ENST00000040584.4	37	c.177C>G	CCDS8870.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254078	0.80135	.	.	ENSG00000037965	ENST00000040584	T	0.40476	1.03	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	L	0.48986	1.54	0.51767	D	0.999936	D	0.58268	0.982	D	0.67548	0.952	T	0.56884	-0.7905	10	0.42905	T	0.14	.	15.1195	0.72432	0.0:1.0:0.0:0.0	.	59	P31273	HXC8_HUMAN	L	59	ENSP00000040584:F59L	ENSP00000040584:F59L	F	+	3	2	HOXC8	52689512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.691000	0.47010	1.904000	0.55121	0.462000	0.41574	TTC		0.652	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2				30	171	0	0	0	1	0	30	171		
NCKAP1L	3071	broad.mit.edu	37	12	54917701	54917701	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:54917701C>G	ENST00000293373.6	+	20	2196	c.2117C>G	c.(2116-2118)tCt>tGt	p.S706C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S656C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	706					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATCTTCCCTTCTGAGTACCTC	0.448																																						uc001sgc.3		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(2116-2118)TCT>TGT		NCK-associated protein 1-like							146.0	127.0	134.0					12																	54917701		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54917701C>G	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2117C>G	12.37:g.54917701C>G	ENSP00000293373:p.Ser706Cys					NCKAP1L_uc010sox.1_Missense_Mutation_p.S248C|NCKAP1L_uc010soy.1_Missense_Mutation_p.S656C	p.S706C	NM_005337	NP_005328	P55160	NCKPL_HUMAN			20	2196	+			706					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2117C>G	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317814	0.60524	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.31769	1.48;1.48	5.16	5.16	0.70880	.	0.262613	0.38164	N	0.001789	T	0.32971	0.0847	N	0.14661	0.345	0.32656	N	0.518773	P	0.50710	0.938	P	0.54346	0.749	T	0.44390	-0.9331	10	0.87932	D	0	-9.8017	16.5538	0.84479	0.0:1.0:0.0:0.0	.	706	P55160	NCKPL_HUMAN	C	706;656	ENSP00000293373:S706C;ENSP00000445596:S656C	ENSP00000293373:S706C	S	+	2	0	NCKAP1L	53203968	0.113000	0.22115	1.000000	0.80357	0.603000	0.37013	2.160000	0.42348	2.565000	0.86533	0.655000	0.94253	TCT		0.448	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1		NM_005337		9	67	0	0	0	1	0	9	67		
DGKA	1606	broad.mit.edu	37	12	56347534	56347534	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56347534C>A	ENST00000331886.5	+	24	2644	c.2190C>A	c.(2188-2190)ttC>ttA	p.F730L	DGKA_ENST00000394147.1_Missense_Mutation_p.F730L|DGKA_ENST00000551156.1_Missense_Mutation_p.F730L|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	730					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCACCAATTTCTTTGGCTTCT	0.582																																						uc001sij.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(2188-2190)TTC>TTA		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						81.0	78.0	79.0					12																	56347534		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347534C>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2190C>A	12.37:g.56347534C>A	ENSP00000328405:p.Phe730Leu					DGKA_uc001sik.2_Missense_Mutation_p.F730L|DGKA_uc001sil.2_Missense_Mutation_p.F730L|DGKA_uc001sim.2_Missense_Mutation_p.F730L|DGKA_uc001sin.2_Missense_Mutation_p.F730L|DGKA_uc009zof.2_Missense_Mutation_p.F376L|DGKA_uc001sio.2_Missense_Mutation_p.F472L	p.F730L	NM_001345	NP_001336	P23743	DGKA_HUMAN			24	2454	+			730					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.2190C>A	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028119	0.75390	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	D;D;D	0.85088	-1.94;-1.94;-1.94	4.88	3.99	0.46301	.	0.297235	0.36066	N	0.002805	D	0.82674	0.5088	L	0.31065	0.9	0.38722	D	0.953463	P	0.50943	0.94	P	0.55161	0.77	T	0.83306	-0.0025	10	0.62326	D	0.03	.	7.1432	0.25568	0.0:0.7328:0.0:0.2672	.	730	P23743	DGKA_HUMAN	L	730	ENSP00000328405:F730L;ENSP00000377703:F730L;ENSP00000450359:F730L	ENSP00000328405:F730L	F	+	3	2	DGKA	54633801	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.346000	0.33964	1.164000	0.42652	0.561000	0.74099	TTC		0.582	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1				17	47	1	0	1.02788e-11	1	1.15021e-11	17	47		
NABP2	79035	broad.mit.edu	37	12	56618691	56618691	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56618691G>T	ENST00000380198.2	+	1	549	c.51G>T	c.(49-51)ctG>ctT	p.L17L	NABP2_ENST00000267023.4_Silent_p.L17L|NABP2_ENST00000341463.5_Silent_p.L17L|RNF41_ENST00000345093.4_5'Flank|RNF41_ENST00000552656.1_5'Flank|RNF41_ENST00000394013.2_5'Flank			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	17					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TCAAGAATCTGAACCTTATCT	0.577											OREG0021922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ski.2		NaN																	0				ovary(1)	1						c.(49-51)CTG>CTT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	oligonucleotide/oligosaccharide-binding fold							134.0	120.0	125.0					12																	56618691		2203	4300	6503	SO:0001819	synonymous_variant	79035				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding	g.chr12:56618691G>T	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.51G>T	12.37:g.56618691G>T			OREG0021922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	OBFC2B_uc001skk.2_Silent_p.L42L|OBFC2B_uc001skj.2_Silent_p.L33L|RNF41_uc001ske.1_5'Flank|RNF41_uc001skf.1_5'Flank|RNF41_uc001skg.1_5'Flank|RNF41_uc010sqg.1_5'Flank|RNF41_uc010sqh.1_5'Flank|RNF41_uc001skh.2_5'Flank	p.L17L	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN			2	175	+			17					A6NDF8|Q6XYC8	Silent	SNP	ENST00000380198.2	37	c.51G>T	CCDS8911.1																																																																																				0.577	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1		NM_024068		6	52	1	0	8.12818e-05	1	8.44313e-05	6	52		
PAN2	9924	broad.mit.edu	37	12	56715866	56715866	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56715866C>T	ENST00000425394.2	-	20	3172	c.2796G>A	c.(2794-2796)ctG>ctA	p.L932L	PAN2_ENST00000549090.1_5'Flank|PAN2_ENST00000440411.3_Silent_p.L928L|PAN2_ENST00000257931.5_Silent_p.L931L|PAN2_ENST00000548043.1_Silent_p.L932L	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	ACTTACTGTTCAGGTTGTATC	0.408																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(2794-2796)CTG>CTA		PAN2 polyA specific ribonuclease subunit homolog							172.0	165.0	167.0					12																	56715866		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56715866C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2796G>A	12.37:g.56715866C>T						PAN2_uc001skw.2_Silent_p.L80L|PAN2_uc001skz.2_Silent_p.L931L|PAN2_uc001sky.2_Silent_p.L928L	p.L932L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			20	3169	-			932						Silent	SNP	ENST00000425394.2	37	c.2796G>A	CCDS44922.1																																																																																				0.408	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		53	83	0	0	0	1	0	53	83		
OSBPL8	114882	broad.mit.edu	37	12	76750481	76750481	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:76750481C>A	ENST00000261183.3	-	23	2941	c.2462G>T	c.(2461-2463)aGa>aTa	p.R821I	OSBPL8_ENST00000393250.4_Missense_Mutation_p.R779I|OSBPL8_ENST00000393249.2_Missense_Mutation_p.R779I	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	821					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TCCTTTCTTTCTTCTTGTACT	0.289																																						uc001sye.1		NaN																	0				ovary(1)	1						c.(2461-2463)AGA>ATA		oxysterol-binding protein-like protein 8 isoform							149.0	147.0	147.0					12																	76750481		2201	4299	6500	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76750481C>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2462G>T	12.37:g.76750481C>A	ENSP00000261183:p.Arg821Ile					OSBPL8_uc001syf.1_Missense_Mutation_p.R779I|OSBPL8_uc001syg.1_Missense_Mutation_p.R779I	p.R821I	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			23	2942	-			821					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.2462G>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720679	0.68959	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.31510	1.51;1.49;1.51	5.76	5.76	0.90799	.	0.050030	0.85682	D	0.000000	T	0.42381	0.1200	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	P	0.62089	0.898	T	0.06844	-1.0804	10	0.35671	T	0.21	-25.5854	19.9192	0.97079	0.0:1.0:0.0:0.0	.	821	Q9BZF1	OSBL8_HUMAN	I	779;821;806;779	ENSP00000376939:R779I;ENSP00000261183:R821I;ENSP00000376940:R779I	ENSP00000261183:R821I	R	-	2	0	OSBPL8	75274612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.604000	0.67626	2.882000	0.98803	0.655000	0.94253	AGA		0.289	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1		NM_020841		14	34	1	0	1.3612e-06	1	1.44492e-06	14	34		
ATP2B1	490	broad.mit.edu	37	12	89996871	89996871	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:89996871G>A	ENST00000428670.3	-	18	3465	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	ATP2B1_ENST00000348959.3_Silent_p.I1003I|ATP2B1_ENST00000359142.3_Silent_p.I1003I|ATP2B1_ENST00000393164.2_Silent_p.I746I|ATP2B1_ENST00000261173.2_Silent_p.I1003I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1003					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CATTGTTAAAGATTCCTTCGA	0.343																																						uc001tbh.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3007-3009)ATC>ATT		plasma membrane calcium ATPase 1 isoform 1b							110.0	103.0	105.0					12																	89996871		2203	4300	6503	SO:0001819	synonymous_variant	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89996871G>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3009C>T	12.37:g.89996871G>A						ATP2B1_uc001tbg.2_Silent_p.I1003I|ATP2B1_uc001tbf.2_Silent_p.I673I	p.I1003I	NM_001682	NP_001673	P20020	AT2B1_HUMAN			17	3190	-			1003			Cytoplasmic (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	c.3009C>T	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	9.936	1.216264	0.22373	.	.	ENSG00000070961	ENST00000550716	.	.	.	5.03	4.13	0.48395	.	.	.	.	.	T	0.56761	0.2007	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53570	-0.8420	4	.	.	.	-27.9263	7.507	0.27551	0.0778:0.0:0.6385:0.2837	.	.	.	.	F	20	.	.	S	-	2	0	ATP2B1	88521002	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.210000	0.42816	1.227000	0.43598	0.563000	0.77884	TCT		0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1		NM_001682		17	45	0	0	0	1	0	17	45		
ANO4	121601	broad.mit.edu	37	12	101442134	101442134	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:101442134G>A	ENST00000392977.3	+	14	1477	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	ANO4_ENST00000392979.3_Missense_Mutation_p.D388N|ANO4_ENST00000550015.1_5'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	423					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCACCTTTTTGACAATGGAGC	0.343										HNSCC(74;0.22)																												uc010svm.1		NaN																	0				ovary(4)|skin(2)	6						c.(1267-1269)GAC>AAC		anoctamin 4							128.0	128.0	128.0					12																	101442134		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101442134G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1267G>A	12.37:g.101442134G>A	ENSP00000376703:p.Asp423Asn	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.D388N|ANO4_uc001thx.2_Missense_Mutation_p.D423N|ANO4_uc001thy.2_5'UTR	p.D423N	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			14	1839	+			423			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1267G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.167380	0.94768	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.65549	-0.16;-0.16	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89354	0.3663	10	0.87932	D	0	.	19.438	0.94806	0.0:0.0:1.0:0.0	.	423;388	Q32M45;Q32M45-2	ANO4_HUMAN;.	N	388;423	ENSP00000376705:D388N;ENSP00000376703:D423N	ENSP00000376703:D423N	D	+	1	0	ANO4	99966265	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.675000	0.91044	0.555000	0.69702	GAC		0.343	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1		NM_178826		15	65	0	0	0	1	0	15	65		
UTP20	27340	broad.mit.edu	37	12	101702091	101702091	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:101702091G>C	ENST00000261637.4	+	18	2298	c.2124G>C	c.(2122-2124)caG>caC	p.Q708H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	708					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATGTGGTACAGACTGCTGTCC	0.383																																						uc001tia.1		NaN																	0				ovary(2)|breast(2)	4						c.(2122-2124)CAG>CAC		down-regulated in metastasis							120.0	116.0	117.0					12																	101702091		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101702091G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2124G>C	12.37:g.101702091G>C	ENSP00000261637:p.Gln708His						p.Q708H	NM_014503	NP_055318	O75691	UTP20_HUMAN			18	2280	+			708					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.2124G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	2.257	-0.370188	0.05069	.	.	ENSG00000120800	ENST00000261637	T	0.19250	2.16	5.61	2.74	0.32292	Armadillo-type fold (1);	0.180058	0.49916	D	0.000122	T	0.14917	0.0360	L	0.46157	1.445	0.24107	N	0.995857	B	0.09022	0.002	B	0.08055	0.003	T	0.21690	-1.0238	10	0.22706	T	0.39	-2.9791	5.0942	0.14725	0.2864:0.1475:0.5661:0.0	.	708	O75691	UTP20_HUMAN	H	708	ENSP00000261637:Q708H	ENSP00000261637:Q708H	Q	+	3	2	UTP20	100226222	0.721000	0.28007	0.068000	0.19968	0.130000	0.20726	1.218000	0.32467	0.696000	0.31696	0.655000	0.94253	CAG		0.383	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		14	52	0	0	0	1	0	14	52		
CMKLR1	1240	broad.mit.edu	37	12	108685927	108685927	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:108685927G>A	ENST00000312143.7	-	3	1176	c.813C>T	c.(811-813)ctC>ctT	p.L271L	CMKLR1_ENST00000552995.1_Silent_p.L269L|CMKLR1_ENST00000397688.2_Silent_p.L269L|CMKLR1_ENST00000550402.1_Silent_p.L271L|CMKLR1_ENST00000412676.1_Silent_p.L271L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	271					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGCACCAGCAGAGGAAGAAGG	0.562																																						uc009zuw.2		NaN																	0				lung(3)|ovary(1)|pancreas(1)	5						c.(811-813)CTC>CTT		chemokine-like receptor 1 isoform a							73.0	81.0	78.0					12																	108685927		2103	4227	6330	SO:0001819	synonymous_variant	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108685927G>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.813C>T	12.37:g.108685927G>A						CMKLR1_uc001tmw.2_Silent_p.L271L|CMKLR1_uc001tmv.2_Silent_p.L269L|CMKLR1_uc009zuv.2_Silent_p.L271L	p.L271L	NM_001142345	NP_001135817	Q99788	CML1_HUMAN			3	1004	-			271			Helical; Name=6; (Potential).		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Silent	SNP	ENST00000312143.7	37	c.813C>T	CCDS44965.1																																																																																				0.562	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1				8	39	0	0	0	1	0	8	39		
ACACB	32	broad.mit.edu	37	12	109577219	109577219	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:109577219G>A	ENST00000338432.7	+	2	128	c.9G>A	c.(7-9)ttG>ttA	p.L3L	ACACB_ENST00000377854.5_Silent_p.L3L|ACACB_ENST00000377848.3_Silent_p.L3L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	3					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAATGGTCTTGCTTCTTTGTC	0.408																																						uc001tob.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(7-9)TTG>TTA		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						92.0	84.0	87.0					12																	109577219		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109577219G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.9G>A	12.37:g.109577219G>A						ACACB_uc001toc.2_Silent_p.L3L	p.L3L	NM_001093	NP_001084	O00763	ACACB_HUMAN			2	128	+			3					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.9G>A	CCDS31898.1																																																																																				0.408	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1		NM_001093		24	31	0	0	0	1	0	24	31		
ACAD10	80724	broad.mit.edu	37	12	112187122	112187122	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:112187122G>C	ENST00000313698.4	+	18	2945	c.2790G>C	c.(2788-2790)gaG>gaC	p.E930D	ACAD10_ENST00000455480.2_Missense_Mutation_p.E961D	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	930						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGTTCTCAGAGAGGGCCCTGG	0.617																																						uc001tsq.2		NaN																	0				ovary(2)	2						c.(2788-2790)GAG>GAC		acyl-Coenzyme A dehydrogenase family, member 10							51.0	50.0	50.0					12																	112187122		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112187122G>C	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2790G>C	12.37:g.112187122G>C	ENSP00000325137:p.Glu930Asp					ACAD10_uc009zvx.2_Missense_Mutation_p.E961D|ACAD10_uc001tss.1_Intron	p.E930D	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			18	2990	+			930					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2790G>C	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337208	0.81911	.	.	ENSG00000111271	ENST00000455480;ENST00000313698	D;D	0.96396	-4.0;-4.0	5.87	4.99	0.66335	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.123875	0.51477	D	0.000089	D	0.97663	0.9234	M	0.83603	2.65	0.80722	D	1	D;P	0.67145	0.996;0.923	D;P	0.65443	0.935;0.796	D	0.97965	1.0340	10	0.87932	D	0	.	10.7115	0.45986	0.1533:0.0:0.8467:0.0	.	961;930	G3XAJ0;Q6JQN1	.;ACD10_HUMAN	D	961;930	ENSP00000389813:E961D;ENSP00000325137:E930D	ENSP00000325137:E930D	E	+	3	2	ACAD10	110671505	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.305000	0.51873	1.495000	0.48549	0.655000	0.94253	GAG		0.617	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1		NM_025247		11	65	0	0	0	1	0	11	65		
OAS1	4938	broad.mit.edu	37	12	113348980	113348980	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:113348980G>A	ENST00000202917.5	+	3	857	c.594G>A	c.(592-594)ctG>ctA	p.L198L	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000452357.2_Silent_p.L198L|OAS1_ENST00000551241.1_Silent_p.L198L|OAS1_ENST00000445409.2_Silent_p.L198L	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	198					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GAGACTTCCTGAAGCAGCGCC	0.562																																						uc001tud.2		NaN																	0				ovary(2)	2						c.(592-594)CTG>CTA		2',5'-oligoadenylate synthetase 1 isoform 1							108.0	94.0	99.0					12																	113348980		2203	4300	6503	SO:0001819	synonymous_variant	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113348980G>A	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.594G>A	12.37:g.113348980G>A						OAS1_uc010syn.1_Silent_p.L197L|OAS1_uc010syo.1_Missense_Mutation_p.E182K|OAS1_uc001tub.2_Silent_p.L198L|OAS1_uc001tuc.2_Silent_p.L198L|OAS1_uc009zwf.2_Silent_p.L197L	p.L198L	NM_016816	NP_058132	P00973	OAS1_HUMAN			3	700	+			198					A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Silent	SNP	ENST00000202917.5	37	c.594G>A	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	G	6.858	0.527635	0.13127	.	.	ENSG00000089127	ENST00000549820	.	.	.	4.31	1.19	0.21007	.	.	.	.	.	T	0.39091	0.1065	.	.	.	0.34900	D	0.746427	B	0.20550	0.046	B	0.15870	0.014	T	0.45659	-0.9246	7	0.87932	D	0	-12.1104	5.9112	0.19029	0.1069:0.3811:0.5119:0.0	.	183	B4DWE7	.	K	183	.	ENSP00000449348:E183K	E	+	1	0	OAS1	111833363	0.621000	0.27077	0.482000	0.27366	0.030000	0.12068	0.232000	0.17891	0.557000	0.29117	0.561000	0.74099	GAA		0.562	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2				12	64	0	0	0	1	0	12	64		
C12orf43	64897	broad.mit.edu	37	12	121454196	121454196	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:121454196C>T	ENST00000288757.3	-	1	104	c.82G>A	c.(82-84)Gag>Aag	p.E28K	C12orf43_ENST00000536407.2_Missense_Mutation_p.E28K|C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.E28K	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	28								p.E28Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGCCGCCTCGCGGCACCGC	0.637																																						uc001tzh.1		NaN																	1	Substitution - Missense(1)		cervix(1)		0						c.(82-84)GAG>AAG		hypothetical protein LOC64897							43.0	43.0	43.0					12																	121454196		2203	4300	6503	SO:0001583	missense	64897							g.chr12:121454196C>T	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.82G>A	12.37:g.121454196C>T	ENSP00000288757:p.Glu28Lys					C12orf43_uc009zxa.1_Missense_Mutation_p.E28K|C12orf43_uc010szo.1_5'UTR|C12orf43_uc010szp.1_Missense_Mutation_p.E28K|C12orf43_uc001tzi.1_Missense_Mutation_p.E28K	p.E28K	NM_022895	NP_075046	Q96C57	CL043_HUMAN			1	105	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		28					Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.82G>A	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.698201|2.698201	0.48307|0.48307	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000288757;ENST00000539736|ENST00000536407	T;T|.	0.59364|.	0.35;0.27|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.046078|.	0.85682|.	D|.	0.000000|.	T|T	0.65770|0.65770	0.2723|0.2723	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;P;B|.	0.54964|.	0.969;0.895;0.427|.	P;P;B|.	0.47891|.	0.56;0.56;0.061|.	T|T	0.66176|0.66176	-0.5989|-0.5989	10|6	0.56958|0.56958	D|D	0.05|0.05	-38.6147|-38.6147	14.1151|14.1151	0.65149|0.65149	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28;28|.	G5EA44;B4DWJ9;Q96C57|.	.;.;CL043_HUMAN|.	K|Q	28|32	ENSP00000288757:E28K;ENSP00000437803:E28K|.	ENSP00000288757:E28K|ENSP00000437546:R32Q	E|R	-|-	1|2	0|0	C12orf43|C12orf43	119938579|119938579	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.058000|0.058000	0.15608|0.15608	3.546000|3.546000	0.53656|0.53656	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.637	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_022895		18	38	0	0	0	1	0	18	38		
CAMKK2	10645	broad.mit.edu	37	12	121711915	121711915	+	Missense_Mutation	SNP	G	G	C	rs202048546		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:121711915G>C	ENST00000324774.5	-	2	1243	c.415C>G	c.(415-417)Cgg>Ggg	p.R139G	CAMKK2_ENST00000392473.2_Missense_Mutation_p.R139G|CAMKK2_ENST00000404169.3_Missense_Mutation_p.R139G|CAMKK2_ENST00000347034.2_Missense_Mutation_p.R139G|CAMKK2_ENST00000392474.2_Missense_Mutation_p.R139G|CAMKK2_ENST00000538733.1_Missense_Mutation_p.R139G|CAMKK2_ENST00000337174.3_Missense_Mutation_p.R139G|CAMKK2_ENST00000402834.4_Missense_Mutation_p.R139G|CAMKK2_ENST00000412367.2_Missense_Mutation_p.R139G|CAMKK2_ENST00000446440.2_Missense_Mutation_p.R139G|CAMKK2_ENST00000535524.1_5'UTR	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	139					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGGGGCAGCCGAGGCGAGGAC	0.697																																						uc001tzu.2		NaN																	0				lung(1)|large_intestine(1)|stomach(1)	3						c.(415-417)CGG>GGG		calcium/calmodulin-dependent protein kinase							15.0	18.0	17.0					12																	121711915		2198	4295	6493	SO:0001583	missense	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121711915G>C	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.415C>G	12.37:g.121711915G>C	ENSP00000312741:p.Arg139Gly					CAMKK2_uc001tzt.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzv.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzw.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzx.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzy.2_Missense_Mutation_p.R139G|CAMKK2_uc001uaa.1_Missense_Mutation_p.R139G|CAMKK2_uc001uab.2_Missense_Mutation_p.R139G|CAMKK2_uc001uac.2_Missense_Mutation_p.R139G|CAMKK2_uc001uad.1_Missense_Mutation_p.R139G	p.R139G	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN			2	539	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		139					A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	c.415C>G	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811517	0.90707	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T	0.75367	-0.91;-0.9;-0.88;-0.91;-0.93;-0.91;-0.93;-0.88;-0.9	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.85379	0.5683	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.999;1.0	D	0.86778	0.1977	10	0.87932	D	0	-0.0057	17.9471	0.89042	0.0:0.0:1.0:0.0	.	139;139;139;139;139;139;139	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	G	139;139;139;139;139;139;139;122;139;139	ENSP00000376266:R139G;ENSP00000321230:R139G;ENSP00000445944:R139G;ENSP00000336634:R139G;ENSP00000312741:R139G;ENSP00000388368:R139G;ENSP00000384600:R139G;ENSP00000388273:R139G;ENSP00000376265:R139G	ENSP00000312741:R139G	R	-	1	2	CAMKK2	120196298	1.000000	0.71417	0.966000	0.40874	0.887000	0.51463	5.746000	0.68681	2.561000	0.86390	0.462000	0.41574	CGG		0.697	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1		NM_172226		3	6	0	0	0	1	0	3	6		
DNAH10	196385	broad.mit.edu	37	12	124298139	124298139	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:124298139C>A	ENST00000409039.3	+	19	3244	c.3219C>A	c.(3217-3219)ctC>ctA	p.L1073L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1073	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAAACTTCTCAATGAGTCAG	0.428																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3217-3219)CTC>CTA		dynein, axonemal, heavy chain 10							49.0	45.0	47.0					12																	124298139		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124298139C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3219C>A	12.37:g.124298139C>A						DNAH10_uc010tav.1_Silent_p.L615L|DNAH10_uc010taw.1_Silent_p.L558L	p.L1073L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	19	3244	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1073			Stem (By similarity).|Potential.		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.3219C>A	CCDS9255.2																																																																																				0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				12	51	1	0	1.08611e-07	1	1.16965e-07	12	51		
SCARB1	949	broad.mit.edu	37	12	125270804	125270804	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:125270804C>G	ENST00000415380.2	-	11	1625	c.1500G>C	c.(1498-1500)tgG>tgC	p.W500C	SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000540495.1_Missense_Mutation_p.W463C|SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000544327.1_Missense_Mutation_p.W446C|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000541205.1_Missense_Mutation_p.W459C|SCARB1_ENST00000261693.6_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	500					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)	GAGGTGGGCTCCAGGCTGCGG	0.672																																						uc001ugo.3		NaN																	0				kidney(1)	1						c.(1498-1500)TGG>TGC		scavenger receptor class B, member 1 isoform 1	Phosphatidylserine(DB00144)																																			SO:0001583	missense	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.chr12:125270804C>G	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.1500G>C	12.37:g.125270804C>G	ENSP00000414979:p.Trp500Cys					SCARB1_uc001ugn.3_Intron|SCARB1_uc001ugm.3_Intron|SCARB1_uc010tbd.1_Intron|SCARB1_uc010tbe.1_Missense_Mutation_p.W459C|SCARB1_uc001ugp.3_Missense_Mutation_p.W500C	p.W500C	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	11	1753	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		500			Cytoplasmic (Potential).		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.1500G>C		.	.	.	.	.	.	.	.	.	.	C	8.521	0.868734	0.17322	.	.	ENSG00000073060	ENST00000415380;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T	0.65916	0.03;-0.17;-0.17;-0.18	3.88	0.699	0.18093	.	.	.	.	.	T	0.49304	0.1549	.	.	.	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36866	-0.9730	8	0.38643	T	0.18	.	11.5997	0.50995	0.0:0.3939:0.6061:0.0	.	459;500;500	B3KW46;B4E3I1;Q8WTV0	.;.;SCRB1_HUMAN	C	500;459;446;463	ENSP00000414979:W500C;ENSP00000446107:W459C;ENSP00000444851:W446C;ENSP00000443286:W463C	ENSP00000414979:W500C	W	-	3	0	SCARB1	123836757	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.274000	0.08537	0.029000	0.15352	0.455000	0.32223	TGG		0.672	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1		NM_005505		8	34	0	0	0	1	0	8	34		
RAN	5901	broad.mit.edu	37	12	131357396	131357396	+	Missense_Mutation	SNP	G	G	T	rs200416921		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:131357396G>T	ENST00000543796.1	+	3	310	c.52G>T	c.(52-54)Gat>Tat	p.D18Y	RAN_ENST00000392367.3_Missense_Mutation_p.D18Y|RAN_ENST00000254675.3_5'UTR|RAN_ENST00000541630.1_5'UTR|RAN_ENST00000392369.2_Missense_Mutation_p.D18Y			P62826	RAN_HUMAN	RAN, member RAS oncogene family	18					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		ATTGGTTGGTGATGGTGGTAC	0.423																																						uc001uir.2		NaN																	0					0						c.(52-54)GAT>TAT		ras-related nuclear protein							334.0	328.0	330.0					12																	131357396		2203	4300	6503	SO:0001583	missense	5901				androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity	g.chr12:131357396G>T	M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.52G>T	12.37:g.131357396G>T	ENSP00000446215:p.Asp18Tyr					RAN_uc010tbk.1_5'UTR|RAN_uc010tbl.1_5'UTR|RAN_uc001uis.2_Missense_Mutation_p.D38Y	p.D18Y	NM_006325	NP_006316	P62826	RAN_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)	3	117	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)	18			GTP (By similarity).		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	ENST00000543796.1	37	c.52G>T	CCDS9271.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	16.73	3.205470	0.58234	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000392369;ENST00000535090;ENST00000392367	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	3.61	3.61	0.41365	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.92964	0.7761	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95374	0.8467	10	0.87932	D	0	-8.8807	14.5846	0.68315	0.0:0.0:1.0:0.0	.	18;18	A8K3Z8;P62826	.;RAN_HUMAN	Y	18;36;18;14;18	ENSP00000446215:D18Y;ENSP00000396127:D36Y;ENSP00000376176:D18Y;ENSP00000444042:D14Y;ENSP00000376174:D18Y	ENSP00000376174:D18Y	D	+	1	0	RAN	129923349	1.000000	0.71417	0.203000	0.23512	0.274000	0.26718	8.558000	0.90704	1.732000	0.51606	0.511000	0.50034	GAT		0.423	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259441.2		NM_006325		19	119	1	0	1.56452e-12	1	1.76009e-12	19	119		
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						uc001ujn.2		NaN																	9	Substitution - coding silent(9)		lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8179-8181)CAA>CAG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_uc001ujl.2_Silent_p.Q2726Q|EP400_uc001ujm.2_Silent_p.Q2646Q|EP400_uc001ujp.2_5'UTR	p.Q2727Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	46	8216	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Poly-Gln.|Interaction with ZNF42 (By similarity).		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8181A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		15	45	0	0	0	1	0	15	45		
DDX51	317781	broad.mit.edu	37	12	132625003	132625003	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:132625003C>T	ENST00000397333.3	-	11	1676	c.1638G>A	c.(1636-1638)atG>atA	p.M546I		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	546	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GCTTCAGGATCATCCTCCTCT	0.627																																						uc001ujy.3		NaN																	0				lung(1)|pancreas(1)	2						c.(1636-1638)ATG>ATA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							85.0	96.0	93.0					12																	132625003		2088	4207	6295	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132625003C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1638G>A	12.37:g.132625003C>T	ENSP00000380495:p.Met546Ile						p.M546I	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	11	1677	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	546			Helicase C-terminal.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.1638G>A	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	C	7.721	0.697247	0.15106	.	.	ENSG00000185163	ENST00000397333	T	0.74842	-0.88	5.09	-0.468	0.12146	Helicase, C-terminal (3);	1.891350	0.03227	N	0.178379	T	0.51550	0.1681	N	0.02916	-0.46	0.09310	N	0.999999	B	0.11235	0.004	B	0.08055	0.003	T	0.44190	-0.9344	10	0.45353	T	0.12	0.0277	7.406	0.26991	0.0:0.4198:0.4153:0.1649	.	546	Q8N8A6	DDX51_HUMAN	I	546	ENSP00000380495:M546I	ENSP00000380495:M546I	M	-	3	0	DDX51	131190956	0.001000	0.12720	0.001000	0.08648	0.018000	0.09664	-0.134000	0.10436	-0.112000	0.11979	0.563000	0.77884	ATG		0.627	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1		NM_175066		25	69	0	0	0	1	0	25	69		
PXMP2	5827	broad.mit.edu	37	12	133277849	133277849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:133277849C>A	ENST00000317479.3	+	4	478	c.413C>A	c.(412-414)tCa>tAa	p.S138*	PXMP2_ENST00000545677.1_Silent_p.L9L|PXMP2_ENST00000539093.1_Silent_p.L9L|PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Silent_p.L9L|PXMP2_ENST00000428960.2_Nonsense_Mutation_p.S45*	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	138						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		AAAGACGCCTCAGCCTTCGCC	0.587																																						uc001ukt.2		NaN																	0					0						c.(412-414)TCA>TAA		peroxisomal membrane protein 2, 22kDa							82.0	91.0	88.0					12																	133277849		2203	4300	6503	SO:0001587	stop_gained	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133277849C>A		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.413C>A	12.37:g.133277849C>A	ENSP00000321271:p.Ser138*					PGAM5_uc010tbr.1_RNA	p.S138*	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	4	478	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		138			Peroxisomal (Potential).			Nonsense_Mutation	SNP	ENST00000317479.3	37	c.413C>A	CCDS9279.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491159	0.44249	.	.	ENSG00000176894	ENST00000317479;ENST00000428960	.	.	.	5.31	1.23	0.21249	.	0.543464	0.20385	N	0.093363	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	4.7963	0.13274	0.2105:0.5765:0.1327:0.0802	.	.	.	.	X	138;45	.	ENSP00000321271:S138X	S	+	2	0	PXMP2	131787922	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.943000	0.29030	0.021000	0.15133	0.514000	0.50259	TCA		0.587	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1		NM_018663		18	126	1	0	1.56452e-12	1	1.76009e-12	18	126		
MICU2	221154	broad.mit.edu	37	13	22077089	22077089	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:22077089C>G	ENST00000382374.4	-	9	974	c.909G>C	c.(907-909)gtG>gtC	p.V303V	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	303	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										ACTTCTCTCTCACATTTTTCC	0.313																																						uc001uof.2		NaN																	0					0						c.(907-909)GTG>GTC		EF-hand domain family, member A1							65.0	67.0	66.0					13																	22077089		2203	4297	6500	SO:0001819	synonymous_variant	221154						calcium ion binding	g.chr13:22077089C>G	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.909G>C	13.37:g.22077089C>G						EFHA1_uc010tct.1_Silent_p.V93V	p.V303V	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)	9	931	-		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	303			EF-hand 3.		Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	c.909G>C	CCDS9297.1																																																																																				0.313	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1		NM_152726		9	70	0	0	0	1	0	9	70		
SPATA13	221178	broad.mit.edu	37	13	24868970	24868970	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24868970G>C	ENST00000382095.4	+	9	1706	c.1299G>C	c.(1297-1299)aaG>aaC	p.K433N	SPATA13_ENST00000343003.6_Missense_Mutation_p.K377N|SPATA13_ENST00000424834.2_Missense_Mutation_p.K1058N|SPATA13_ENST00000399949.2_Missense_Mutation_p.K355N|SPATA13_ENST00000409126.1_Missense_Mutation_p.K293N|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.K936N|SPATA13_ENST00000382108.3_Missense_Mutation_p.K1058N	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	433					cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCATCGACAAGATAGCTCGCT	0.547																																						uc001upg.1		NaN																	0				skin(2)|ovary(1)	3						c.(1297-1299)AAG>AAC		spermatogenesis associated 13							117.0	95.0	102.0					13																	24868970		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24868970G>C	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1299G>C	13.37:g.24868970G>C	ENSP00000371527:p.Lys433Asn					SPATA13_uc001upd.1_Missense_Mutation_p.K1058N|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Missense_Mutation_p.K379N|SPATA13_uc010tcz.1_Missense_Mutation_p.K317N|SPATA13_uc010tda.1_Missense_Mutation_p.K377N|SPATA13_uc001uph.2_Missense_Mutation_p.K355N|SPATA13_uc010tdb.1_Missense_Mutation_p.K293N|SPATA13_uc009zzz.1_Intron|SPATA13_uc001upi.1_5'Flank	p.K433N	NM_153023	NP_694568	Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	9	1706	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	433					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.1299G>C	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.288277|4.288277	0.80803|0.80803	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003	.|D;D;D;D;D;D	.|0.90197	.|-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Dbl homology (DH) domain (2);	.|0.095031	.|0.64402	.|D	.|0.000001	D|D	0.94755|0.94755	0.8307|0.8307	M|M	0.68952|0.68952	2.095|2.095	0.43076|0.43076	D|D	0.994721|0.994721	.|D;P;D;P;P;P	.|0.89917	.|0.999;0.783;1.0;0.783;0.783;0.677	.|D;P;D;P;P;P	.|0.91635	.|0.998;0.652;0.999;0.652;0.652;0.45	D|D	0.93985|0.93985	0.7261|0.7261	5|10	.|0.42905	.|T	.|0.14	.|.	18.6807|18.6807	0.91545|0.91545	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|293;377;317;379;355;433	.|E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.|.;.;.;.;.;SPT13_HUMAN	H|N	1096|1058;433;331;379;355;293;377	.|ENSP00000371542:K1058N;ENSP00000371527:K433N;ENSP00000401605:K331N;ENSP00000382830:K355N;ENSP00000386471:K293N;ENSP00000343631:K377N	.|ENSP00000343631:K377N	D|K	+|+	1|3	0|2	SPATA13|SPATA13	23766970|23766970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.299000|3.299000	0.51826|0.51826	2.676000|2.676000	0.91093|0.91093	0.561000|0.561000	0.74099|0.74099	GAT|AAG		0.547	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2		NM_153023		9	57	0	0	0	1	0	9	57		
C1QTNF9	338872	broad.mit.edu	37	13	24890172	24890172	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24890172G>A	ENST00000382071.2	+	2	116	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	C1QTNF9-AS1_ENST00000449656.1_RNA|RP11-307N16.6_ENST00000382141.4_3'UTR|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E11K			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	11						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GCTTGCCATTGAAATCTGCAC	0.517																																						uc001upj.2		NaN																	0					0						c.(31-33)GAA>AAA		C1q and tumor necrosis factor related protein 9							81.0	78.0	79.0					13																	24890172		2203	4298	6501	SO:0001583	missense	338872					collagen	hormone activity	g.chr13:24890172G>A	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.31G>A	13.37:g.24890172G>A	ENSP00000371503:p.Glu11Lys					C1QTNF9_uc001upe.2_RNA	p.E11K	NM_178540	NP_848635	P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	2	92	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	11					A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	c.31G>A	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	g	12.59	1.982183	0.34942	.	.	ENSG00000240654	ENST00000382071;ENST00000332018;ENST00000382066	D;D	0.89810	-2.57;-2.57	3.85	3.0	0.34707	.	0.533866	0.17980	N	0.155561	T	0.73233	0.3561	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.56312	-0.8000	10	0.09590	T	0.72	.	8.9497	0.35781	0.1058:0.0:0.8942:0.0	.	11	P0C862	C1T9A_HUMAN	K	11	ENSP00000371503:E11K;ENSP00000333737:E11K	ENSP00000333737:E11K	E	+	1	0	C1QTNF9	23788172	0.963000	0.33076	0.001000	0.08648	0.011000	0.07611	4.961000	0.63681	0.963000	0.38082	0.511000	0.50034	GAA		0.517	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1		NM_178540		12	97	0	0	0	1	0	12	97		
ATP12A	479	broad.mit.edu	37	13	25266996	25266996	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:25266996G>A	ENST00000381946.3	+	10	1506	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	ATP12A_ENST00000218548.6_Missense_Mutation_p.E453K			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	447					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TAACCGAGCAGAGTTCAAGCC	0.463																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(1339-1341)GAG>AAG		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						191.0	181.0	185.0					13																	25266996		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25266996G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1339G>A	13.37:g.25266996G>A	ENSP00000371372:p.Glu447Lys					ATP12A_uc010aaa.2_Missense_Mutation_p.E453K	p.E447K	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	10	1526	+		Lung SC(185;0.0225)|Breast(139;0.077)	447			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1339G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673402	0.47781	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.95885	-3.84;-3.84	5.65	4.81	0.61882	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.94282	0.8163	L	0.33339	1.005	0.45662	D	0.998588	P;D	0.56968	0.936;0.978	P;P	0.55615	0.596;0.78	D	0.92845	0.6292	10	0.32370	T	0.25	.	12.3394	0.55085	0.0817:0.0:0.9182:0.0	.	453;447	P54707-2;P54707	.;AT12A_HUMAN	K	453;447	ENSP00000218548:E453K;ENSP00000371372:E447K	ENSP00000218548:E453K	E	+	1	0	ATP12A	24164996	1.000000	0.71417	0.855000	0.33649	0.875000	0.50365	4.437000	0.59955	1.400000	0.46741	0.655000	0.94253	GAG		0.463	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1		NM_001676		38	267	0	0	0	1	0	38	267		
AMER2	219287	broad.mit.edu	37	13	25744264	25744264	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:25744264G>C	ENST00000515384.1	-	1	2161	c.1494C>G	c.(1492-1494)atC>atG	p.I498M	AMER2_ENST00000381853.3_Missense_Mutation_p.I379M|AMER2_ENST00000357816.2_Missense_Mutation_p.I379M|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	498					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GATGGGGCTCGATGGGAATCC	0.647																																						uc001uqb.2		NaN																	0				ovary(2)|large_intestine(1)|lung(1)	4						c.(1492-1494)ATC>ATG		hypothetical protein LOC219287 isoform 1							49.0	47.0	48.0					13																	25744264		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744264G>C	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1494C>G	13.37:g.25744264G>C	ENSP00000426528:p.Ile498Met					FAM123A_uc001uqa.2_Missense_Mutation_p.I379M|FAM123A_uc001uqc.2_Missense_Mutation_p.I379M	p.I498M	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1594	-		Lung SC(185;0.0225)|Breast(139;0.0602)	498					Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1494C>G	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317815	0.40996	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.23147	1.92;1.92;1.92	4.69	-9.38	0.00623	.	0.770291	0.12591	N	0.455608	T	0.15955	0.0384	L	0.50333	1.59	0.09310	N	1	B;B	0.27932	0.194;0.161	B;B	0.26416	0.069;0.028	T	0.11348	-1.0591	10	0.66056	D	0.02	3.4195	4.7872	0.13230	0.1927:0.3877:0.3293:0.0903	.	498;379	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	M	379;379;498	ENSP00000350469:I379M;ENSP00000371277:I379M;ENSP00000426528:I498M	ENSP00000350469:I379M	I	-	3	3	FAM123A	24642264	0.000000	0.05858	0.000000	0.03702	0.982000	0.71751	-1.820000	0.01714	-3.818000	0.00103	-0.474000	0.04947	ATC		0.647	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1		NM_152704		8	62	0	0	0	1	0	8	62		
FRY	10129	broad.mit.edu	37	13	32811880	32811880	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:32811880G>C	ENST00000380250.3	+	44	6671	c.6175G>C	c.(6175-6177)Gaa>Caa	p.E2059Q		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2059						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTGAGTTTGAATACTTAAT	0.498																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(6175-6177)GAA>CAA		furry homolog							45.0	45.0	45.0					13																	32811880		1953	4146	6099	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32811880G>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6175G>C	13.37:g.32811880G>C	ENSP00000369600:p.Glu2059Gln					FRY_uc010tdw.1_RNA	p.E2059Q	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	44	6671	+		Lung SC(185;0.0271)	2059					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6175G>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057608	0.93846	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.45276	0.9	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70296	-0.4911	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2059	Q5TBA9	FRY_HUMAN	Q	2059;896	ENSP00000369600:E2059Q	ENSP00000369600:E2059Q	E	+	1	0	FRY	31709880	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAA		0.498	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		12	63	0	0	0	1	0	12	63		
BRCA2	675	broad.mit.edu	37	13	32915107	32915107	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:32915107G>T	ENST00000380152.3	+	11	6848	c.6615G>T	c.(6613-6615)gtG>gtT	p.V2205V	BRCA2_ENST00000544455.1_Silent_p.V2205V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2205					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGTTCCTGTGAAAACAAATA	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(6613-6615)GTG>GTT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							50.0	55.0	53.0					13																	32915107		2202	4300	6502	SO:0001819	synonymous_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32915107G>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6615G>T	13.37:g.32915107G>T		TCGA Ovarian(8;0.087)					p.V2205V	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6842	+		Lung SC(185;0.0262)	2205					O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.6615G>T	CCDS9344.1																																																																																				0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		35	80	1	0	3.67414e-24	1	4.24328e-24	35	80		
KL	9365	broad.mit.edu	37	13	33628033	33628033	+	Missense_Mutation	SNP	C	C	G	rs188831765		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:33628033C>G	ENST00000380099.3	+	2	957	c.949C>G	c.(949-951)Caa>Gaa	p.Q317E	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.Q10E	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	317	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CAAAGAATGTCAAAAATCTCT	0.453																																						uc001uus.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(949-951)CAA>GAA		klotho precursor							171.0	163.0	166.0					13																	33628033		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33628033C>G	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.949C>G	13.37:g.33628033C>G	ENSP00000369442:p.Gln317Glu					KL_uc001uur.1_Missense_Mutation_p.Q10E	p.Q317E	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	957	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	317			Glycosyl hydrolase-1 1.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.949C>G	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350738	0.82132	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.27104	1.69;1.69	5.9	5.9	0.94986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	N	0.13140	0.3	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.79108	0.983;0.992	T	0.11299	-1.0593	10	0.21014	T	0.42	-22.8376	20.2822	0.98520	0.0:1.0:0.0:0.0	.	317;10	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	E	10;317	ENSP00000399513:Q10E;ENSP00000369442:Q317E	ENSP00000369442:Q317E	Q	+	1	0	KL	32526033	1.000000	0.71417	0.999000	0.59377	0.731000	0.41821	7.668000	0.83897	2.806000	0.96561	0.655000	0.94253	CAA		0.453	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1				61	125	0	0	0	1	0	61	125		
FREM2	341640	broad.mit.edu	37	13	39433440	39433440	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:39433440A>G	ENST00000280481.7	+	14	7448	c.7232A>G	c.(7231-7233)tAt>tGt	p.Y2411C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2411					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACCCCAAATATTCAGACTAC	0.483																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(7231-7233)TAT>TGT		FRAS1-related extracellular matrix protein 2							131.0	116.0	121.0					13																	39433440		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39433440A>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7232A>G	13.37:g.39433440A>G	ENSP00000280481:p.Tyr2411Cys					FREM2_uc001uww.2_Missense_Mutation_p.Y497C	p.Y2411C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	14	7541	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2411			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7232A>G	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062469	0.76187	.	.	ENSG00000150893	ENST00000280481	T	0.80393	-1.37	6.16	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.90328	0.6974	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.962	D	0.91398	0.5141	10	0.72032	D	0.01	.	13.5888	0.61948	0.8629:0.1371:0.0:0.0	.	2411;2411	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	C	2411	ENSP00000280481:Y2411C	ENSP00000280481:Y2411C	Y	+	2	0	FREM2	38331440	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	9.309000	0.96252	1.147000	0.42369	0.528000	0.53228	TAT		0.483	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		33	119	0	0	0	1	0	33	119		
MRPS31	10240	broad.mit.edu	37	13	41341064	41341064	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:41341064C>G	ENST00000323563.6	-	2	294	c.258G>C	c.(256-258)gaG>gaC	p.E86D		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	86						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TGTCTTGGCTCTCTGAAGTCT	0.373																																						uc001uxm.3		NaN																	0					0						c.(256-258)GAG>GAC		mitochondrial ribosomal protein S31 precursor							152.0	147.0	149.0					13																	41341064		2203	4299	6502	SO:0001583	missense	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41341064C>G	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.258G>C	13.37:g.41341064C>G	ENSP00000315397:p.Glu86Asp						p.E86D	NM_005830	NP_005821	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	2	333	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	86					B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	37	c.258G>C	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736674	0.30774	.	.	ENSG00000102738	ENST00000323563	T	0.34667	1.35	4.83	3.97	0.46021	.	0.822162	0.11418	N	0.566092	T	0.46580	0.1400	M	0.80982	2.52	0.26710	N	0.970994	P	0.43662	0.814	B	0.43889	0.435	T	0.40664	-0.9551	10	0.54805	T	0.06	.	11.3096	0.49356	0.0:0.8153:0.1847:0.0	.	86	Q92665	RT31_HUMAN	D	86	ENSP00000315397:E86D	ENSP00000315397:E86D	E	-	3	2	MRPS31	40239064	0.834000	0.29399	0.287000	0.24848	0.038000	0.13279	1.020000	0.30027	1.145000	0.42336	0.563000	0.77884	GAG		0.373	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2				28	75	0	0	0	1	0	28	75		
RB1	5925	broad.mit.edu	37	13	48947603	48947603	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:48947603C>G	ENST00000267163.4	+	12	1328	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	397	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.S397fs*1(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GATCAACCTTCAGAAAATCTG	0.289		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		25	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(2)	p.?(7)|p.S397fs*1(2)	bone(11)|breast(5)|central_nervous_system(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM961227	RB1	M		c.(1189-1191)TCA>TGA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						100.0	107.0	105.0					13																	48947603		2203	4289	6492	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48947603C>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1190C>G	13.37:g.48947603C>G	ENSP00000267163:p.Ser397*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Nonsense_Mutation_p.S98*	p.S397*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	12	1356	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	397			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1190C>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	6.895619	0.97916	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4822	0.95014	0.0:1.0:0.0:0.0	.	.	.	.	X	376;397	.	ENSP00000267163:S397X	S	+	2	0	RB1	47845604	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.779000	0.68948	2.612000	0.88384	0.563000	0.77884	TCA		0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				20	172	0	0	0	1	0	20	172		
KLF5	688	broad.mit.edu	37	13	73636016	73636016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:73636016G>C	ENST00000377687.4	+	2	815	c.279G>C	c.(277-279)gaG>gaC	p.E93D	KLF5_ENST00000539231.1_Missense_Mutation_p.E2D|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	93					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|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)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GTGAAATGGAGAAGTATCTGA	0.408																																						uc001vje.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(277-279)GAG>GAC		Kruppel-like factor 5							99.0	103.0	101.0					13																	73636016		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636016G>C	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.279G>C	13.37:g.73636016G>C	ENSP00000366915:p.Glu93Asp					KLF5_uc001vjd.2_Missense_Mutation_p.E2D	p.E93D	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	603	+		Prostate(6;0.00187)|Breast(118;0.0735)	93					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.279G>C	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	G	1.260	-0.616033	0.03663	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.03441	3.93;3.95	6.04	5.17	0.71159	.	0.093958	0.64402	D	0.000001	T	0.01454	0.0047	N	0.02247	-0.625	0.38841	D	0.956067	B	0.09022	0.002	B	0.08055	0.003	T	0.36890	-0.9729	10	0.02654	T	1	.	8.8796	0.35367	0.0777:0.0:0.7755:0.1467	.	93	Q13887	KLF5_HUMAN	D	2;93;73	ENSP00000440407:E2D;ENSP00000366915:E93D	ENSP00000366915:E93D	E	+	3	2	KLF5	72534017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.726000	0.47302	1.484000	0.48361	0.563000	0.77884	GAG		0.408	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				21	132	0	0	0	1	0	21	132		
SCEL	8796	broad.mit.edu	37	13	78130748	78130748	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:78130748C>G	ENST00000349847.3	+	3	145	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	SCEL_ENST00000535157.1_Missense_Mutation_p.Q21E|SCEL_ENST00000377246.3_Missense_Mutation_p.Q21E	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	21					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAGCACCACTCAGGGAACCAC	0.433																																						uc001vki.2		NaN																	0				ovary(4)|breast(1)	5						c.(61-63)CAG>GAG		sciellin isoform 1							193.0	199.0	197.0					13																	78130748		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78130748C>G	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.61C>G	13.37:g.78130748C>G	ENSP00000302579:p.Gln21Glu					SCEL_uc001vkj.2_Missense_Mutation_p.Q21E|SCEL_uc010thx.1_Missense_Mutation_p.Q21E	p.Q21E	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	3	231	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	21					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.61C>G	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	C	3.416	-0.119229	0.06838	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.22539	1.95;1.96;1.96	5.3	4.44	0.53790	.	0.775363	0.11382	N	0.569724	T	0.25791	0.0628	L	0.60455	1.87	0.09310	N	1	B;B;B	0.17852	0.024;0.024;0.024	B;B;B	0.22880	0.042;0.036;0.024	T	0.15723	-1.0427	10	0.42905	T	0.14	0.0178	13.3015	0.60328	0.0:0.8406:0.1594:0.0	.	21;21;21	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	E	21	ENSP00000437895:Q21E;ENSP00000366454:Q21E;ENSP00000302579:Q21E	ENSP00000315127:Q21E	Q	+	1	0	SCEL	77028749	0.001000	0.12720	0.013000	0.15412	0.026000	0.11368	1.266000	0.33039	1.318000	0.45170	0.563000	0.77884	CAG		0.433	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2		NM_144777		42	260	0	0	0	1	0	42	260		
MBNL2	10150	broad.mit.edu	37	13	97986587	97986587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:97986587C>T	ENST00000376673.3	+	3	1013	c.232C>T	c.(232-234)Caa>Taa	p.Q78*	MBNL2_ENST00000397601.1_Nonsense_Mutation_p.Q78*|MBNL2_ENST00000343600.4_Nonsense_Mutation_p.Q78*|MBNL2_ENST00000445661.2_Nonsense_Mutation_p.Q78*|MBNL2_ENST00000345429.6_Nonsense_Mutation_p.Q78*			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	78					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CTTAAAAACTCAACTAGAAAT	0.398																																						uc010aft.2		NaN																	0					0						c.(232-234)CAA>TAA		muscleblind-like 2 isoform 1							76.0	73.0	74.0					13																	97986587		2203	4300	6503	SO:0001587	stop_gained	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97986587C>T	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.232C>T	13.37:g.97986587C>T	ENSP00000365861:p.Gln78*					MBNL2_uc001vmz.2_Nonsense_Mutation_p.Q78*|MBNL2_uc001vna.2_Nonsense_Mutation_p.Q78*|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Nonsense_Mutation_p.Q78*	p.Q78*	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		3	1048	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		78					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Nonsense_Mutation	SNP	ENST00000376673.3	37	c.232C>T		.	.	.	.	.	.	.	.	.	.	C	45	11.549227	0.99574	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673;ENST00000445661	.	.	.	5.88	5.88	0.94601	.	0.057967	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.297	0.98561	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000344214:Q78X	Q	+	1	0	MBNL2	96784588	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.817000	0.86213	2.805000	0.96524	0.551000	0.68910	CAA		0.398	MBNL2-202	KNOWN	basic	protein_coding	protein_coding			NM_144778		22	54	0	0	0	1	0	22	54		
TPP2	7174	broad.mit.edu	37	13	103286425	103286425	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:103286425G>A	ENST00000376065.4	+	11	1406	c.1370G>A	c.(1369-1371)gGa>gAa	p.G457E	TPP2_ENST00000376052.3_Missense_Mutation_p.G457E	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	457	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGCATGTGGAGGCATTGCC	0.453																																						uc001vpi.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1369-1371)GGA>GAA		tripeptidyl peptidase II							179.0	150.0	160.0					13																	103286425		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103286425G>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1370G>A	13.37:g.103286425G>A	ENSP00000365233:p.Gly457Glu						p.G457E	NM_003291	NP_003282	P29144	TPP2_HUMAN			11	1473	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		457					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.1370G>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862747	0.91511	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.70631	-0.5;-0.5	5.73	5.73	0.89815	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.90889	0.7137	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93707	0.7020	10	0.87932	D	0	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	457	P29144	TPP2_HUMAN	E	457	ENSP00000365233:G457E;ENSP00000365220:G457E	ENSP00000365220:G457E	G	+	2	0	TPP2	102084426	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	9.229000	0.95273	2.721000	0.93114	0.655000	0.94253	GGA		0.453	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2				21	73	0	0	0	1	0	21	73		
METTL21C	196541	broad.mit.edu	37	13	103343288	103343288	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:103343288G>A	ENST00000267273.6	-	2	162	c.157C>T	c.(157-159)Cat>Tat	p.H53Y		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	53					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TGGAGGCTATGAAGAGATGGT	0.403																																						uc001vpj.2		NaN																	0					0						c.(157-159)CAT>TAT		hypothetical protein LOC196541							143.0	135.0	138.0					13																	103343288		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103343288G>A		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.157C>T	13.37:g.103343288G>A	ENSP00000267273:p.His53Tyr					C13orf39_uc001vpk.2_Missense_Mutation_p.H53Y	p.H53Y	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN			2	163	-			53						Missense_Mutation	SNP	ENST00000267273.6	37	c.157C>T	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222987	0.39300	.	.	ENSG00000139780	ENST00000267273	T	0.14516	2.5	6.16	6.16	0.99307	.	1.226680	0.05468	N	0.552497	T	0.11965	0.0291	N	0.19112	0.55	0.23411	N	0.99773	B	0.31730	0.337	B	0.22601	0.04	T	0.20472	-1.0274	10	0.54805	T	0.06	-0.6465	13.2682	0.60146	0.0:0.0:0.7539:0.2461	.	53	Q5VZV1	MT21C_HUMAN	Y	53	ENSP00000267273:H53Y	ENSP00000267273:H53Y	H	-	1	0	METTL21C	102141289	0.986000	0.35501	0.965000	0.40720	0.569000	0.35902	3.411000	0.52672	2.937000	0.99478	0.650000	0.86243	CAT		0.403	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2		NM_001010977		22	105	0	0	0	1	0	22	105		
COL4A2	1284	broad.mit.edu	37	13	111156284	111156284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:111156284G>A	ENST00000360467.5	+	44	4535	c.4229G>A	c.(4228-4230)cGa>cAa	p.R1410Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1410	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGGAGGCGAGGCCCCCCT	0.731																																						uc001vqx.2		NaN																	0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(4228-4230)CGA>CAA		alpha 2 type IV collagen preproprotein							26.0	29.0	28.0					13																	111156284		1790	4054	5844	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111156284G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4229G>A	13.37:g.111156284G>A	ENSP00000353654:p.Arg1410Gln						p.R1410Q	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		44	4518	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1410			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.4229G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	3.583	-0.085247	0.07097	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.90788	-2.73	5.2	3.46	0.39613	.	0.516058	0.18184	N	0.149049	T	0.74703	0.3751	N	0.05467	-0.045	0.18873	N	0.999989	P	0.34837	0.472	B	0.34824	0.19	T	0.64351	-0.6428	10	0.11794	T	0.64	.	3.0877	0.06283	0.1583:0.1393:0.5588:0.1436	.	1410	P08572	CO4A2_HUMAN	Q	1410	ENSP00000353654:R1410Q	ENSP00000257309:R1410Q	R	+	2	0	COL4A2	109954285	0.079000	0.21365	0.992000	0.48379	0.418000	0.31294	0.248000	0.18198	1.192000	0.43071	0.561000	0.74099	CGA		0.731	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2		NM_001846		11	31	0	0	0	1	0	11	31		
CUL4A	8451	broad.mit.edu	37	13	113887597	113887597	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:113887597G>A	ENST00000375440.4	+	6	703	c.619G>A	c.(619-621)Gag>Aag	p.E207K	CUL4A_ENST00000326335.4_Missense_Mutation_p.E107K|CUL4A_ENST00000375441.3_Missense_Mutation_p.E107K|CUL4A_ENST00000451881.1_Missense_Mutation_p.E107K	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	207					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GAGGAGCGGCGAGGCCGTGGA	0.542																																						uc010tjy.1		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(619-621)GAG>AAG		cullin 4A isoform 1							81.0	76.0	78.0					13																	113887597		2203	4300	6503	SO:0001583	missense	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113887597G>A	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.619G>A	13.37:g.113887597G>A	ENSP00000364589:p.Glu207Lys					CUL4A_uc010tjx.1_Missense_Mutation_p.E107K|CUL4A_uc010agu.2_Missense_Mutation_p.E68K|CUL4A_uc001vtl.1_5'Flank	p.E207K	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		7	630	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	207					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	c.619G>A	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127037	0.94429	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	4.35	4.35	0.52113	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.85462	2.755	0.80722	D	1	P;P	0.39696	0.683;0.503	B;B	0.37989	0.262;0.178	D	0.83580	0.0117	10	0.62326	D	0.03	-43.1071	17.2571	0.87060	0.0:0.0:1.0:0.0	.	207;207	Q13619;A8MSH7	CUL4A_HUMAN;.	K	107;107;107;207	ENSP00000364590:E107K;ENSP00000389118:E107K;ENSP00000322132:E107K;ENSP00000364589:E207K	ENSP00000322132:E107K	E	+	1	0	CUL4A	112935598	1.000000	0.71417	0.606000	0.28943	0.915000	0.54546	9.553000	0.98118	2.121000	0.65114	0.561000	0.74099	GAG		0.542	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3		NM_003589		10	57	0	0	0	1	0	10	57		
RASA3	22821	broad.mit.edu	37	13	114765114	114765114	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:114765114C>T	ENST00000334062.7	-	20	2000	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	RASA3_ENST00000389544.4_Missense_Mutation_p.E595K	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	627	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGGATGTTCTCGATGGGAATG	0.622																																						uc001vui.2		NaN																	0				lung(3)|skin(1)	4						c.(1879-1881)GAG>AAG		RAS p21 protein activator 3							73.0	77.0	76.0					13																	114765114		2203	4299	6502	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114765114C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1879G>A	13.37:g.114765114C>T	ENSP00000335029:p.Glu627Lys					RASA3_uc010tkk.1_Missense_Mutation_p.E595K|RASA3_uc001vuj.2_Missense_Mutation_p.E244K	p.E627K	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		20	2010	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	627			PH.		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.1879G>A	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409865	0.25465	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.93366	-3.21;-3.21	5.36	5.36	0.76844	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	N	0.12611	0.24	0.80722	D	1	B	0.23937	0.094	B	0.22880	0.042	T	0.82528	-0.0412	9	.	.	.	.	19.0685	0.93123	0.0:1.0:0.0:0.0	.	627	Q14644	RASA3_HUMAN	K	627;595	ENSP00000335029:E627K;ENSP00000374195:E595K	.	E	-	1	0	RASA3	113783216	0.997000	0.39634	0.906000	0.35671	0.233000	0.25261	3.521000	0.53472	2.499000	0.84300	0.462000	0.41574	GAG		0.622	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2		NM_007368		5	47	0	0	0	1	0	5	47		
TMEM55B	90809	broad.mit.edu	37	14	20928361	20928361	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:20928361G>T	ENST00000250489.4	-	3	716	c.430C>A	c.(430-432)Cgg>Agg	p.R144R	TMEM55B_ENST00000554028.1_5'UTR|TMEM55B_ENST00000398020.4_Silent_p.R151R			Q86T03	TM55B_HUMAN	transmembrane protein 55B	144						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CAGTAGGGCCGAGGGCATGCA	0.488																																						uc001vxl.2		NaN																	0					0						c.(430-432)CGG>AGG		transmembrane protein 55B isoform 2							97.0	92.0	94.0					14																	20928361		2203	4300	6503	SO:0001819	synonymous_variant	90809					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr14:20928361G>T	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.430C>A	14.37:g.20928361G>T						TMEM55B_uc001vxk.2_Silent_p.R151R	p.R144R	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	3	583	-	all_cancers(95;0.00123)	all_lung(585;0.235)	144					B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Silent	SNP	ENST00000250489.4	37	c.430C>A	CCDS9551.1																																																																																				0.488	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3		NM_144568		23	32	1	0	4.26978e-12	1	4.79067e-12	23	32		
METTL3	56339	broad.mit.edu	37	14	21979365	21979365	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:21979365T>C	ENST00000298717.4	-	1	152	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	METTL3_ENST00000538267.1_Start_Codon_SNP_p.M1V|METTL3_ENST00000545319.1_5'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	1					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GTGTCCGACATCCTAGTCTCC	0.632																																						uc001wbc.2		NaN																	0				pancreas(1)|skin(1)	2						c.(1-3)ATG>GTG		methyltransferase like 3							38.0	34.0	36.0					14																	21979365		2203	4300	6503	SO:0001582	initiator_codon_variant	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21979365T>C	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1A>G	14.37:g.21979365T>C	ENSP00000298717:p.Met1Val					METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Missense_Mutation_p.M1V|METTL3_uc001wbd.1_Missense_Mutation_p.M1V	p.M1V	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	1	93	-	all_cancers(95;0.000628)		1					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.1A>G	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494470	0.85069	.	.	ENSG00000165819	ENST00000298717;ENST00000538267;ENST00000440691	T;T	0.40756	1.02;1.02	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	.	.	.	0.80722	D	1	P;P;D	0.63880	0.954;0.954;0.993	D;D;D	0.68192	0.916;0.916;0.956	T	0.69684	-0.5079	9	0.87932	D	0	-39.3193	15.1807	0.72956	0.0:0.0:0.0:1.0	.	1;1;1	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	V	1	ENSP00000298717:M1V;ENSP00000442316:M1V	ENSP00000298717:M1V	M	-	1	0	METTL3	21049205	1.000000	0.71417	0.940000	0.37924	0.537000	0.34900	6.578000	0.74032	2.226000	0.72624	0.533000	0.62120	ATG		0.632	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1		NM_019852	Missense_Mutation	5	12	0	0	0	1	0	5	12		
MIS18BP1	55320	broad.mit.edu	37	14	45693438	45693438	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:45693438C>T	ENST00000310806.4	-	11	2810	c.2352G>A	c.(2350-2352)agG>agA	p.R784R		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	784					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTTCAGCTTTCCTTTTAATTT	0.358																																						uc001wwf.2		NaN																	0					0						c.(2350-2352)AGG>AGA		chromosome 14 open reading frame 106							144.0	141.0	142.0					14																	45693438		2203	4300	6503	SO:0001819	synonymous_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693438C>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2352G>A	14.37:g.45693438C>T							p.R784R	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			11	2811	-			784					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	ENST00000310806.4	37	c.2352G>A	CCDS9684.1																																																																																				0.358	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2				34	48	0	0	0	1	0	34	48		
POLE2	5427	broad.mit.edu	37	14	50117145	50117145	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:50117145G>T	ENST00000216367.5	-	17	1434	c.1335C>A	c.(1333-1335)atC>atA	p.I445I	POLE2_ENST00000554396.1_Silent_p.I445I|POLE2_ENST00000539565.2_Silent_p.I419I|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	445					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.I445M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	CTTGGGATAAGATAGTCTTTA	0.358																																						uc001wwu.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1333-1335)ATC>ATA		DNA-directed DNA polymerase epsilon 2							111.0	108.0	109.0					14																	50117145		2203	4300	6503	SO:0001819	synonymous_variant	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50117145G>T	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1335C>A	14.37:g.50117145G>T						SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Silent_p.I159I|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Silent_p.I160I	p.I445I	NM_002692	NP_002683	P56282	DPOE2_HUMAN			17	1349	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		445					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	ENST00000216367.5	37	c.1335C>A	CCDS32073.1																																																																																				0.358	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1		NM_002692		19	55	1	0	2.35188e-11	1	2.62477e-11	19	55		
PSMC6	5706	broad.mit.edu	37	14	53178177	53178177	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:53178177G>A	ENST00000606149.1	+	6	392	c.376G>A	c.(376-378)Gac>Aac	p.D126N	PSMC6_ENST00000445930.2_Missense_Mutation_p.D140N	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	126					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GTCTCATGAGGACCCTGGGAA	0.393																																						uc010tqx.1		NaN																	0				lung(1)	1						c.(418-420)GAC>AAC		proteasome 26S ATPase subunit 6							144.0	146.0	146.0					14																	53178177		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53178177G>A		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.376G>A	14.37:g.53178177G>A	ENSP00000475721:p.Asp126Asn					PSMC6_uc010tqw.1_Missense_Mutation_p.D106N	p.D140N	NM_002806	NP_002797	P62333	PRS10_HUMAN			6	418	+	Breast(41;0.176)		126					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.418G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.094904|4.094904	0.76870|0.76870	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000445930|ENST00000555339;ENST00000556813	D|.	0.93953|.	-3.32|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.045932|.	0.85682|.	D|.	0.000000|.	T|T	0.78572|0.78572	0.4304|0.4304	M|M	0.81682|0.81682	2.555|2.555	0.80722|0.80722	D|D	1|1	B;B|.	0.12630|.	0.006;0.004|.	B;B|.	0.12837|.	0.005;0.008|.	T|T	0.80264|0.80264	-0.1455|-0.1455	10|5	0.52906|.	T|.	0.07|.	.|.	18.3722|18.3722	0.90411|0.90411	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	126;106|.	P62333;B4DR91|.	PRS10_HUMAN;.|.	N|E	140|86;125	ENSP00000401802:D140N|.	ENSP00000401802:D140N|.	D|G	+|+	1|2	0|0	PSMC6|PSMC6	52247927|52247927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.353000|9.353000	0.97080|0.97080	2.421000|2.421000	0.82119|0.82119	0.650000|0.650000	0.86243|0.86243	GAC|GGA		0.393	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1		NM_002806		48	62	0	0	0	1	0	48	62		
PCNXL4	64430	broad.mit.edu	37	14	60591695	60591695	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:60591695G>C	ENST00000406854.1	+	9	3360	c.2806G>C	c.(2806-2808)Gac>Cac	p.D936H	PCNXL4_ENST00000404681.2_Missense_Mutation_p.D936H|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D702H|PCNXL4_ENST00000406949.1_Missense_Mutation_p.D702H|PCNXL4_ENST00000535349.1_Missense_Mutation_p.D143H			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	936						integral component of membrane (GO:0016021)											ATTTCCAGAAGACTGGTACCA	0.413																																						uc001xer.3		NaN																	0				ovary(2)	2						c.(2104-2106)GAC>CAC		hepatitis C virus F protein-binding protein 2							100.0	104.0	103.0					14																	60591695		2203	4300	6503	SO:0001583	missense	64430					integral to membrane		g.chr14:60591695G>C	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2806G>C	14.37:g.60591695G>C	ENSP00000384801:p.Asp936His					C14orf135_uc001xeq.2_Missense_Mutation_p.D702H|C14orf135_uc010apm.2_RNA	p.D702H	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	8	2626	+		Myeloproliferative disorder(585;0.163)	936					A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2104G>C		.	.	.	.	.	.	.	.	.	.	G	17.57	3.421624	0.62622	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.39229	1.46;1.48;1.42;1.48;1.09	4.77	4.77	0.60923	.	0.186090	0.56097	D	0.000031	T	0.60560	0.2278	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.67145	0.97;0.996	P;P	0.58013	0.554;0.831	T	0.66850	-0.5819	10	0.87932	D	0	.	18.1584	0.89701	0.0:0.0:1.0:0.0	.	936;702	Q63HM2;B5MC47	CN135_HUMAN;.	H	702;936;702;936;143	ENSP00000317396:D702H;ENSP00000384801:D936H;ENSP00000385201:D702H;ENSP00000385713:D936H;ENSP00000445644:D143H	ENSP00000317396:D702H	D	+	1	0	C14orf135	59661448	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	8.923000	0.92808	2.351000	0.79841	0.305000	0.20034	GAC		0.413	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1		NM_022495		31	69	0	0	0	1	0	31	69		
PPP1R36	145376	broad.mit.edu	37	14	65041219	65041219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:65041219G>C	ENST00000298705.1	+	8	676	c.580G>C	c.(580-582)Gaa>Caa	p.E194Q	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	194					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AAGTGAATTAGAAGCAGCACA	0.433																																						uc001xhl.1		NaN																	0				skin(1)	1						c.(580-582)GAA>CAA		hypothetical protein LOC145376							122.0	111.0	115.0					14																	65041219		2203	4300	6503	SO:0001583	missense	145376							g.chr14:65041219G>C		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.580G>C	14.37:g.65041219G>C	ENSP00000298705:p.Glu194Gln						p.E194Q	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	8	676	+			194					Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	c.580G>C	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735444	0.30774	.	.	ENSG00000165807	ENST00000298705	T	0.30714	1.52	6.04	5.12	0.69794	.	0.363572	0.26556	N	0.023713	T	0.31420	0.0796	M	0.64997	1.995	0.25613	N	0.986489	B	0.28850	0.225	B	0.23574	0.047	T	0.22382	-1.0218	10	0.49607	T	0.09	-10.6636	13.5053	0.61481	0.0:0.155:0.845:0.0	.	194	Q96LQ0	PPR36_HUMAN	Q	194	ENSP00000298705:E194Q	ENSP00000298705:E194Q	E	+	1	0	C14orf50	64110972	0.527000	0.26306	0.831000	0.32960	0.736000	0.42039	1.700000	0.37815	2.873000	0.98535	0.561000	0.74099	GAA		0.433	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1		NM_172365		16	51	0	0	0	1	0	16	51		
SIPA1L1	26037	broad.mit.edu	37	14	72200447	72200447	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:72200447C>T	ENST00000555818.1	+	19	5337	c.4989C>T	c.(4987-4989)ccC>ccT	p.P1663P	SIPA1L1_ENST00000358550.2_Silent_p.P1642P|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Silent_p.P1117P|SIPA1L1_ENST00000381232.3_Silent_p.P1642P	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1663					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGCCTATGCCCGACCCTGGCC	0.587																																						uc001xms.2		NaN																	0				ovary(3)|breast(1)	4						c.(4987-4989)CCC>CCT		signal-induced proliferation-associated 1 like							96.0	83.0	88.0					14																	72200447		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72200447C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4989C>T	14.37:g.72200447C>T						SIPA1L1_uc001xmt.2_Silent_p.P1642P|SIPA1L1_uc001xmu.2_Silent_p.P1642P|SIPA1L1_uc001xmv.2_Silent_p.P1663P|SIPA1L1_uc010ttm.1_Silent_p.P1117P|SIPA1L1_uc001xmw.2_Silent_p.P428P	p.P1663P	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	19	5337	+			1663					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.4989C>T	CCDS9807.1																																																																																				0.587	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1		NM_015556		13	23	0	0	0	1	0	13	23		
RBM25	58517	broad.mit.edu	37	14	73581010	73581010	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:73581010C>T	ENST00000261973.7	+	18	2693	c.2408C>T	c.(2407-2409)tCa>tTa	p.S803L	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.S803L	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	803	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S803L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GCTCATAGTTCACCCCAGAGC	0.244																																						uc001xno.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(2)|ovary(1)|breast(1)	4						c.(2407-2409)TCA>TTA		RNA binding motif protein 25							80.0	87.0	84.0					14																	73581010		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73581010C>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2408C>T	14.37:g.73581010C>T	ENSP00000261973:p.Ser803Leu					RBM25_uc010ttu.1_Missense_Mutation_p.S803L|RBM25_uc001xnp.2_Missense_Mutation_p.S598L	p.S803L	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	18	2616	+			803			PWI.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.2408C>T	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098201	0.76870	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.44482	0.92;0.92	6.03	6.03	0.97812	Splicing factor PWI (5);	0.252844	0.39985	N	0.001213	T	0.48187	0.1486	L	0.60455	1.87	0.80722	D	1	B	0.27117	0.168	B	0.32289	0.143	T	0.39354	-0.9618	10	0.54805	T	0.06	.	20.5596	0.99324	0.0:1.0:0.0:0.0	.	803	P49756	RBM25_HUMAN	L	803	ENSP00000261973:S803L;ENSP00000431150:S803L	ENSP00000261973:S803L	S	+	2	0	RBM25	72650763	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.890000	0.69774	2.868000	0.98415	0.555000	0.69702	TCA		0.244	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1		XM_027330		42	71	0	0	0	1	0	42	71		
PAPLN	89932	broad.mit.edu	37	14	73712862	73712862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:73712862C>T	ENST00000554301.1	+	4	476	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	PAPLN_ENST00000427855.1_Missense_Mutation_p.R105W|RP4-647C14.2_ENST00000554614.1_RNA|PAPLN_ENST00000340738.5_Missense_Mutation_p.R105W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R105W|PAPLN_ENST00000381166.3_Missense_Mutation_p.R105W|RNU6-419P_ENST00000517030.1_RNA			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	105						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCGGCGGTATCGGTGGCTGCC	0.667																																						uc010ttx.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(313-315)CGG>TGG		papilin							9.0	12.0	11.0					14																	73712862		2178	4276	6454	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73712862C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.313C>T	14.37:g.73712862C>T	ENSP00000451803:p.Arg105Trp					PAPLN_uc001xnw.3_Missense_Mutation_p.R105W|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R105W|uc001xnx.2_5'Flank	p.R105W	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	4	476	+			105					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.313C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.068225	0.76301	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000394134;ENST00000554301;ENST00000555445	T;T;T;T;T	0.00498	6.97;6.97;6.97;6.97;6.97	4.26	-1.28	0.09318	.	.	.	.	.	T	0.01353	0.0044	M	0.75447	2.3	0.32982	D	0.52378	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.62014	0.849;0.711;0.897	T	0.11060	-1.0603	9	0.87932	D	0	.	14.472	0.67523	0.3769:0.6231:0.0:0.0	.	105;105;105	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	W	105	ENSP00000345395:R105W;ENSP00000403403:R105W;ENSP00000370558:R105W;ENSP00000451803:R105W;ENSP00000451729:R105W	ENSP00000216658:R105W	R	+	1	2	PAPLN	72782615	1.000000	0.71417	0.299000	0.25016	0.659000	0.38960	2.665000	0.46791	-0.503000	0.06586	0.462000	0.41574	CGG		0.667	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1		NM_173462		3	9	0	0	0	1	0	3	9		
ACOT2	10965	broad.mit.edu	37	14	74036029	74036029	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:74036029C>G	ENST00000238651.5	+	1	267	c.85C>G	c.(85-87)Cga>Gga	p.R29G	ACOT2_ENST00000538782.1_5'UTR	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	29					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TGCTGTCCTTCGAGCGTCCCG	0.557																																						uc001xon.3		NaN																	0				skin(1)	1						c.(85-87)CGA>GGA		acyl-CoA thioesterase 2							169.0	154.0	159.0					14																	74036029		2203	4300	6503	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74036029C>G	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.85C>G	14.37:g.74036029C>G	ENSP00000238651:p.Arg29Gly					ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_5'UTR	p.R29G	NM_006821	NP_006812	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	258	+			29					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.85C>G	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977477	0.34848	.	.	ENSG00000119673	ENST00000238651	T	0.51817	0.69	3.45	-0.189	0.13260	.	.	.	.	.	T	0.31702	0.0805	N	0.08118	0	0.22001	N	0.999424	D	0.59767	0.986	P	0.46825	0.528	T	0.32481	-0.9905	9	0.72032	D	0.01	-3.7484	11.2526	0.49034	0.5733:0.4267:0.0:0.0	.	29	P49753	ACOT2_HUMAN	G	29	ENSP00000238651:R29G	ENSP00000238651:R29G	R	+	1	2	ACOT2	73105782	0.002000	0.14202	0.282000	0.24776	0.041000	0.13682	-1.196000	0.03041	-0.044000	0.13491	0.563000	0.77884	CGA		0.557	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1		NM_006821		63	56	0	0	0	1	0	63	56		
DLST	1743	broad.mit.edu	37	14	75359643	75359643	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75359643G>C	ENST00000334220.4	+	8	610	c.549G>C	c.(547-549)caG>caC	p.Q183H	DLST_ENST00000334212.6_Missense_Mutation_p.Q97H|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	183					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TACCCACTCAGATGCCACCGG	0.587																																						uc001xqv.2		NaN																	0				ovary(1)	1						c.(547-549)CAG>CAC		dihydrolipoamide S-succinyltransferase (E2							68.0	58.0	61.0					14																	75359643		2203	4300	6503	SO:0001583	missense	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75359643G>C		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.549G>C	14.37:g.75359643G>C	ENSP00000335304:p.Gln183His					DLST_uc001xqu.2_Missense_Mutation_p.Q95H|DLST_uc001xqt.2_Missense_Mutation_p.Q99H|DLST_uc010tuw.1_Missense_Mutation_p.Q97H|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.Q183H	p.Q183H	NM_001933	NP_001924	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	8	612	+			183					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	c.549G>C	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809889	0.31961	.	.	ENSG00000119689	ENST00000334220;ENST00000334212;ENST00000554806	T;T;T	0.41758	0.99;0.99;0.99	5.11	2.17	0.27698	.	0.596516	0.18686	N	0.134011	T	0.22437	0.0541	N	0.14661	0.345	0.34159	D	0.668498	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.11470	-1.0586	10	0.62326	D	0.03	-49.8184	4.7546	0.13077	0.1024:0.3653:0.4076:0.1247	.	97;183;183;95;99	B7Z5W8;Q6IBS5;P36957;Q86TQ8;Q86TW7	.;.;ODO2_HUMAN;.;.	H	183;97;166	ENSP00000335304:Q183H;ENSP00000335465:Q97H;ENSP00000451957:Q166H	ENSP00000238671:Q166H	Q	+	3	2	DLST	74429396	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	0.887000	0.28254	0.381000	0.24851	-0.175000	0.13238	CAG		0.587	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1				9	61	0	0	0	1	0	9	61		
EIF2B2	8892	broad.mit.edu	37	14	75470262	75470262	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75470262G>A	ENST00000266126.5	+	3	373	c.293G>A	c.(292-294)gGa>gAa	p.G98E	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	98				RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		AGACTCCATGGACGCAGCGAC	0.537																																						uc001xrc.1		NaN																	0				ovary(1)	1						c.(292-294)GGA>GAA		eukaryotic translation initiation factor 2B,							97.0	87.0	90.0					14																	75470262		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75470262G>A		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.293G>A	14.37:g.75470262G>A	ENSP00000266126:p.Gly98Glu						p.G98E	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	3	375	+			98	RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002).				O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.293G>A	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035273	0.93630	.	.	ENSG00000119718	ENST00000266126	D	0.91894	-2.93	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	L	0.51914	1.62	0.80722	D	1	D	0.59767	0.986	D	0.63597	0.916	D	0.91169	0.4967	10	0.18710	T	0.47	-18.507	18.447	0.90688	0.0:0.0:1.0:0.0	.	98	P49770	EI2BB_HUMAN	E	98	ENSP00000266126:G98E	ENSP00000266126:G98E	G	+	2	0	EIF2B2	74540015	1.000000	0.71417	0.734000	0.30879	0.834000	0.47266	9.869000	0.99810	2.786000	0.95864	0.561000	0.74099	GGA		0.537	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1		NM_014239		44	49	0	0	0	1	0	44	49		
EIF2B2	8892	broad.mit.edu	37	14	75475859	75475859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75475859G>A	ENST00000266126.5	+	8	1104	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	342					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CCTGATGAGTGAACTCTACCA	0.473																																						uc001xrc.1		NaN																	0				ovary(1)	1						c.(1024-1026)GAA>AAA		eukaryotic translation initiation factor 2B,							344.0	281.0	302.0					14																	75475859		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75475859G>A		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.1024G>A	14.37:g.75475859G>A	ENSP00000266126:p.Glu342Lys						p.E342K	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	8	1106	+			342					O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.1024G>A	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	G	36	5.852480	0.97030	.	.	ENSG00000119718	ENST00000266126	D	0.95918	-3.85	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	M	0.89163	3.01	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.98619	1.0666	10	0.87932	D	0	-15.951	19.9894	0.97361	0.0:0.0:1.0:0.0	.	342	P49770	EI2BB_HUMAN	K	342	ENSP00000266126:E342K	ENSP00000266126:E342K	E	+	1	0	EIF2B2	74545612	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.869000	0.99810	2.730000	0.93505	0.655000	0.94253	GAA		0.473	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1		NM_014239		49	291	0	0	0	1	0	49	291		
FLVCR2	55640	broad.mit.edu	37	14	76045894	76045894	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:76045894C>T	ENST00000238667.4	+	1	935	c.579C>T	c.(577-579)ttC>ttT	p.F193F	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	193					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)	p.F193F(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGGTTTTCATCCTGGGCA	0.602																																						uc001xrs.2		NaN																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(577-579)TTC>TTT		feline leukemia virus subgroup C cellular							45.0	47.0	47.0					14																	76045894		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76045894C>T	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.579C>T	14.37:g.76045894C>T							p.F193F	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	1	955	+			193			Helical; (Potential).		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.579C>T	CCDS9844.1																																																																																				0.602	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1		NM_017791		54	63	0	0	0	1	0	54	63		
TMEM63C	57156	broad.mit.edu	37	14	77712285	77712285	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:77712285C>G	ENST00000298351.4	+	17	1595	c.1451C>G	c.(1450-1452)tCa>tGa	p.S484*		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	484					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTTCTAGATCAAGTCAGAAT	0.433																																						uc001xtf.2		NaN																	0					0						c.(1450-1452)TCA>TGA		transmembrane protein 63C							288.0	264.0	271.0					14																	77712285		1980	4159	6139	SO:0001587	stop_gained	57156					integral to membrane		g.chr14:77712285C>G		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1451C>G	14.37:g.77712285C>G	ENSP00000298351:p.Ser484*					TMEM63C_uc010asq.1_Nonsense_Mutation_p.S484*	p.S484*	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	17	1663	+			484					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Nonsense_Mutation	SNP	ENST00000298351.4	37	c.1451C>G	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	C	40	8.215966	0.98709	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	.	.	.	6.03	6.03	0.97812	.	0.054825	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.0485	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	484;54	.	ENSP00000298351:S484X	S	+	2	0	TMEM63C	76782038	1.000000	0.71417	0.881000	0.34555	0.898000	0.52572	7.770000	0.85390	2.861000	0.98227	0.655000	0.94253	TCA		0.433	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1				12	160	0	0	0	1	0	12	160		
FAM181A	90050	broad.mit.edu	37	14	94394796	94394796	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:94394796C>A	ENST00000267594.5	+	3	658	c.351C>A	c.(349-351)ctC>ctA	p.L117L	FAM181A_ENST00000557000.2_Silent_p.L55L|FAM181A_ENST00000556222.1_Silent_p.L55L|FAM181A_ENST00000557719.1_Silent_p.L55L|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	117										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						ATTCCCGGCTCCCGCGGGGCC	0.647																																						uc001ybz.1		NaN																	0					0						c.(349-351)CTC>CTA		hypothetical protein LOC90050							28.0	30.0	29.0					14																	94394796		2203	4300	6503	SO:0001819	synonymous_variant	90050							g.chr14:94394796C>A	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.351C>A	14.37:g.94394796C>A						C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.L55L|FAM181A_uc001yca.1_Silent_p.L55L	p.L117L	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN			3	658	+			117					B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	c.351C>A	CCDS9914.1																																																																																				0.647	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1		NM_138344		16	19	1	0	1.3612e-06	1	1.44492e-06	16	19		
GSC	145258	broad.mit.edu	37	14	95234906	95234906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:95234906C>T	ENST00000238558.3	-	3	905	c.696G>A	c.(694-696)tgG>tgA	p.W232*		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	232					dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		ACGTCTTGTTCCACTTCTCCG	0.597																																					Pancreas(105;2165 2186 4892 18008)	uc001ydu.2		NaN																	0					0						c.(694-696)TGG>TGA		goosecoid							157.0	138.0	145.0					14																	95234906		2203	4300	6503	SO:0001587	stop_gained	145258				gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:95234906C>T		CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"""Homeoboxes / PRD class"""	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.696G>A	14.37:g.95234906C>T	ENSP00000238558:p.Trp232*						p.W232*	NM_173849	NP_776248	P56915	GSC_HUMAN		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)	3	843	-		all_cancers(154;0.0896)|all_epithelial(191;0.219)	232					Q86YR1	Nonsense_Mutation	SNP	ENST00000238558.3	37	c.696G>A	CCDS9930.1	.	.	.	.	.	.	.	.	.	.	C	38	7.125968	0.98081	.	.	ENSG00000133937	ENST00000238558	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-18.9792	19.3816	0.94540	0.0:1.0:0.0:0.0	.	.	.	.	X	232	.	ENSP00000238558:W232X	W	-	3	0	GSC	94304659	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.686000	0.68211	2.580000	0.87095	0.462000	0.41574	TGG		0.597	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410746.1				24	178	0	0	0	1	0	24	178		
ATG2B	55102	broad.mit.edu	37	14	96792138	96792138	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96792138C>T	ENST00000359933.4	-	15	3178	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	762					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTGATCAGATCGAAGATCAGG	0.383																																						uc001yfi.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2284-2286)CGA>CAA		ATG2 autophagy related 2 homolog B							96.0	88.0	91.0					14																	96792138		1918	4114	6032	SO:0001583	missense	55102							g.chr14:96792138C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2285G>A	14.37:g.96792138C>T	ENSP00000353010:p.Arg762Gln						p.R762Q	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	15	2650	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	762					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.2285G>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	36	5.698347	0.96802	.	.	ENSG00000066739	ENST00000359933	T	0.54279	0.58	5.6	5.6	0.85130	.	0.000000	0.64402	U	0.000007	T	0.73473	0.3591	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75470	-0.3306	10	0.87932	D	0	.	19.6287	0.95691	0.0:1.0:0.0:0.0	.	762	Q96BY7	ATG2B_HUMAN	Q	762	ENSP00000353010:R762Q	ENSP00000353010:R762Q	R	-	2	0	ATG2B	95861891	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	7.601000	0.82783	2.652000	0.90054	0.563000	0.77884	CGA		0.383	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1		NM_018036		37	118	0	0	0	1	0	37	118		
ATG2B	55102	broad.mit.edu	37	14	96807901	96807901	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96807901C>T	ENST00000359933.4	-	6	1775	c.882G>A	c.(880-882)ttG>ttA	p.L294L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	294					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.L294L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACGTGAGACTCAACTCCAACC	0.388																																						uc001yfi.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(880-882)TTG>TTA		ATG2 autophagy related 2 homolog B							144.0	139.0	141.0					14																	96807901		1926	4136	6062	SO:0001819	synonymous_variant	55102							g.chr14:96807901C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.882G>A	14.37:g.96807901C>T							p.L294L	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	6	1247	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	294					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.882G>A	CCDS9944.2																																																																																				0.388	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1		NM_018036		83	84	0	0	0	1	0	83	84		
AK7	122481	broad.mit.edu	37	14	96944839	96944839	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96944839G>A	ENST00000267584.4	+	15	1637	c.1593G>A	c.(1591-1593)ctG>ctA	p.L531L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	531	Adenylate kinase.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGAGTTTCTGAAGGAGCGTG	0.542																																						uc001yfn.2		NaN																	0				ovary(1)	1						c.(1591-1593)CTG>CTA		adenylate kinase 7							137.0	126.0	129.0					14																	96944839		2203	4300	6503	SO:0001819	synonymous_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96944839G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1593G>A	14.37:g.96944839G>A							p.L531L	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	15	1637	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	531					Q8IYP6	Silent	SNP	ENST00000267584.4	37	c.1593G>A	CCDS9945.1																																																																																				0.542	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1				22	164	0	0	0	1	0	22	164		
PAPOLA	10914	broad.mit.edu	37	14	97009217	97009217	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:97009217G>A	ENST00000216277.8	+	14	1496	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E426K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	426					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGCACCCAAAGAAAATCCCGA	0.358																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2		NaN																	0					0						c.(1276-1278)GAA>AAA		poly(A) polymerase alpha							107.0	115.0	112.0					14																	97009217		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97009217G>A	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1276G>A	14.37:g.97009217G>A	ENSP00000216277:p.Glu426Lys					PAPOLA_uc001yfr.2_Missense_Mutation_p.E426K|PAPOLA_uc010twv.1_Missense_Mutation_p.E426K|PAPOLA_uc010avp.2_Missense_Mutation_p.E176K	p.E426K	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	14	1486	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	426					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1276G>A	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083865	0.76642	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.42	5.42	0.78866	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.170713	0.50627	D	0.000104	T	0.61350	0.2340	M	0.61703	1.905	0.80722	D	1	B;B;B	0.30851	0.127;0.154;0.297	B;B;B	0.29598	0.043;0.073;0.104	T	0.58544	-0.7618	9	0.25751	T	0.34	.	19.2242	0.93812	0.0:0.0:1.0:0.0	.	442;442;426	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	K	426;442;426;176	.	ENSP00000216277:E426K	E	+	1	0	PAPOLA	96078970	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.553000	0.86117	0.591000	0.81541	GAA		0.358	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2				23	194	0	0	0	1	0	23	194		
RTL1	388015	broad.mit.edu	37	14	101348170	101348170	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:101348170C>T	ENST00000534062.1	-	1	3014	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K	MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	986					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCGTCTTGTTCTGGCAGCTCC	0.582																																						uc010txj.1		NaN																	0				pancreas(1)	1						c.(2956-2958)GAA>AAA		retrotransposon-like 1							22.0	22.0	22.0					14																	101348170		692	1591	2283	SO:0001583	missense	388015							g.chr14:101348170C>T		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2956G>A	14.37:g.101348170C>T	ENSP00000435342:p.Glu986Lys					MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	p.E986K	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN			1	3015	-			986					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.2956G>A	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432892	0.43224	.	.	ENSG00000254656	ENST00000534062	T	0.22539	1.95	3.39	0.454	0.16644	.	1.264190	0.05976	N	0.643231	T	0.10551	0.0258	N	0.08118	0	0.09310	N	1	B	0.33694	0.421	B	0.30495	0.116	T	0.29088	-1.0023	10	0.72032	D	0.01	.	5.0652	0.14578	0.0:0.6107:0.1755:0.2138	.	986	E9PKS8	.	K	986	ENSP00000435342:E986K	ENSP00000435342:E986K	E	-	1	0	RTL1	100417923	0.000000	0.05858	0.001000	0.08648	0.723000	0.41478	0.158000	0.16422	0.094000	0.17404	0.555000	0.69702	GAA		0.582	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1		NM_001134888		22	140	0	0	0	1	0	22	140		
XRCC3	7517	broad.mit.edu	37	14	104165273	104165273	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104165273G>T	ENST00000553264.1	-	8	1699	c.903C>A	c.(901-903)ctC>ctA	p.L301L	KLC1_ENST00000554280.1_Intron|RP11-73M18.8_ENST00000602422.1_RNA|XRCC3_ENST00000554913.1_Silent_p.L301L|KLC1_ENST00000452929.2_Intron|KLC1_ENST00000348520.6_Intron|KLC1_ENST00000557450.1_Intron|XRCC3_ENST00000555055.1_Silent_p.L301L|XRCC3_ENST00000554974.1_Silent_p.L96L|XRCC3_ENST00000445556.1_Silent_p.L301L|XRCC3_ENST00000352127.7_Silent_p.L301L|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000334553.6_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	301					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTTCCTCGCGGAGCCGGTCAG	0.657								Direct reversal of damage;Homologous recombination																														uc001yny.3		NaN																	0					0						c.(901-903)CTC>CTA	Direct_reversal_of_damage|Homologous_recombination	X-ray repair cross complementing protein 3							19.0	19.0	19.0					14																	104165273		2194	4298	6492	SO:0001819	synonymous_variant	7517				DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104165273G>T	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"""RAD51-like"""	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.903C>A	14.37:g.104165273G>T						KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Silent_p.L301L|XRCC3_uc001ynz.3_Silent_p.L301L|XRCC3_uc001yoa.3_Silent_p.L301L	p.L301L	NM_005432	NP_005423	O43542	XRCC3_HUMAN		Epithelial(152;0.239)	10	1283	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	301					O43568|Q9BU18	Silent	SNP	ENST00000553264.1	37	c.903C>A	CCDS9984.1																																																																																				0.657	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1		NM_005432		11	12	1	0	4.68919e-08	1	5.05854e-08	11	12		
PPP1R13B	23368	broad.mit.edu	37	14	104201510	104201510	+	Missense_Mutation	SNP	C	C	T	rs548424756		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104201510C>T	ENST00000202556.9	-	17	3536	c.3254G>A	c.(3253-3255)cGa>cAa	p.R1085Q	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_3'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	1085					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGTTCGCTGTCGGGGTTTGAT	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18514	0.0		0.0	False		,,,				2504	0.0					uc001yof.1		NaN																	0				ovary(1)	1						c.(3253-3255)CGA>CAA		apoptosis-stimulating protein of p53, 1							77.0	86.0	83.0					14																	104201510		2148	4255	6403	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104201510C>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.3254G>A	14.37:g.104201510C>T	ENSP00000202556:p.Arg1085Gln					PPP1R13B_uc010awv.1_RNA	p.R1085Q	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			17	3537	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	1085					B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.3254G>A	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478544	0.96291	.	.	ENSG00000088808	ENST00000202556	T	0.57752	0.38	5.81	5.81	0.92471	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.61686	-0.7012	10	0.30078	T	0.28	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	1085	Q96KQ4	ASPP1_HUMAN	Q	1085	ENSP00000202556:R1085Q	ENSP00000202556:R1085Q	R	-	2	0	PPP1R13B	103271263	1.000000	0.71417	0.997000	0.53966	0.782000	0.44232	6.763000	0.74955	2.746000	0.94184	0.655000	0.94253	CGA		0.577	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1		NM_015316		13	78	0	0	0	1	0	13	78		
TDRD9	122402	broad.mit.edu	37	14	104464977	104464977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104464977G>C	ENST00000409874.4	+	13	1443	c.1395G>C	c.(1393-1395)ttG>ttC	p.L465F	TDRD9_ENST00000339063.5_Missense_Mutation_p.L465F	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	465	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTTTTGTTTGACTAGAACTT	0.338																																						uc001yom.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1393-1395)TTG>TTC		tudor domain containing 9							187.0	187.0	187.0					14																	104464977		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104464977G>C	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1395G>C	14.37:g.104464977G>C	ENSP00000387303:p.Leu465Phe					TDRD9_uc001yon.3_Missense_Mutation_p.L203F	p.L465F	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			13	1425	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	465			Helicase C-terminal.		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.1395G>C	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.554835|3.554835	0.65425|0.65425	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.03413	.|3.94;3.94	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Helicase, C-terminal (3);	.|0.000000	.|0.49305	.|D	.|0.000141	T|T	0.09113|0.09113	0.0225|0.0225	N|N	0.21508|0.21508	0.67|0.67	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.19418|0.19418	-1.0306|-1.0306	5|10	.|0.56958	.|D	.|0.05	.|.	12.6748|12.6748	0.56887|0.56887	0.0875:0.0:0.9125:0.0|0.0875:0.0:0.9125:0.0	.|.	.|465;465	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	H|F	192|465	.|ENSP00000387303:L465F;ENSP00000343545:L465F	.|ENSP00000343545:L465F	D|L	+|+	1|3	0|2	TDRD9|TDRD9	103534730|103534730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.698000|4.698000	0.61789|0.61789	2.522000|2.522000	0.85027|0.85027	0.491000|0.491000	0.48974|0.48974	GAC|TTG		0.338	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3		NM_153046		44	122	0	0	0	1	0	44	122		
MTA1	9112	broad.mit.edu	37	14	105927222	105927222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:105927222G>C	ENST00000331320.7	+	10	1088	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	MTA1_ENST00000406191.1_Missense_Mutation_p.E292Q|MTA1_ENST00000405646.1_Missense_Mutation_p.E275Q|MTA1_ENST00000435036.2_5'Flank	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	292	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTCTGCATCAGAGGCCAACCT	0.577																																						uc001yqx.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(874-876)GAG>CAG		metastasis associated protein							103.0	103.0	103.0					14																	105927222		2203	4298	6501	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105927222G>C	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.874G>C	14.37:g.105927222G>C	ENSP00000333633:p.Glu292Gln					MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Missense_Mutation_p.E206Q|MTA1_uc001yra.1_Missense_Mutation_p.E206Q|MTA1_uc001yrb.2_Missense_Mutation_p.E53Q	p.E292Q	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	10	1061	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	292			SANT.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.874G>C	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711512	0.89112	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000498644;ENST00000434050	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.23	4.23	0.50019	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.967	T	0.82084	-0.0632	10	0.87932	D	0	-32.3801	15.1882	0.73023	0.0:0.0:1.0:0.0	.	84;292	Q59FW1;Q13330	.;MTA1_HUMAN	Q	201;292;292;275;206;84	ENSP00000333633:E292Q;ENSP00000385702:E292Q;ENSP00000384180:E275Q;ENSP00000394106:E84Q	ENSP00000333633:E292Q	E	+	1	0	MTA1	104998267	1.000000	0.71417	0.872000	0.34217	0.950000	0.60333	9.750000	0.98875	1.926000	0.55796	0.655000	0.94253	GAG		0.577	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15				17	51	0	0	0	1	0	17	51		
FMN1	342184	broad.mit.edu	37	15	33359341	33359341	+	Intron	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:33359341G>A	ENST00000559047.1	-	3	2043				FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Nonsense_Mutation_p.Q249*|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Nonsense_Mutation_p.Q249*			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCGAATTCTGGTTTGTTACT	0.507																																						uc001zhf.3		NaN																	0				ovary(1)	1						c.(745-747)CAG>TAG		formin 1							99.0	103.0	102.0					15																	33359341		2033	4194	6227	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33359341G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2066C>T	15.37:g.33359341G>A						FMN1_uc001zhg.2_Nonsense_Mutation_p.Q249*	p.Q249*	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	745	-		all_lung(180;1.14e-07)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q3B7I6|Q3ZAR4|Q6ZSY1	Nonsense_Mutation	SNP	ENST00000559047.1	37	c.745C>T		.	.	.	.	.	.	.	.	.	.	G	14.11	2.436398	0.43224	.	.	ENSG00000248905	ENST00000334528	.	.	.	5.59	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	10.8163	0.46578	0.0675:0.0:0.6863:0.2462	.	.	.	.	X	249	.	ENSP00000333950:Q249X	Q	-	1	0	FMN1	31146633	0.150000	0.22732	0.004000	0.12327	0.207000	0.24258	1.273000	0.33121	0.706000	0.31912	0.655000	0.94253	CAG		0.507	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1		NM_001103184		37	80	0	0	0	1	0	37	80		
NUTM1	256646	broad.mit.edu	37	15	34649344	34649344	+	Silent	SNP	C	C	T	rs7163178		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:34649344C>T	ENST00000333756.4	+	7	3206	c.3051C>T	c.(3049-3051)ctC>ctT	p.L1017L	NUTM1_ENST00000537011.1_Silent_p.L1045L|NUTM1_ENST00000438749.3_Silent_p.L1035L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1017						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATGAGGAACTCTCCAACTTTG	0.502																																						uc001zif.2		NaN								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(3049-3051)CTC>CTT		nuclear protein in testis							80.0	64.0	69.0					15																	34649344		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34649344C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3051C>T	15.37:g.34649344C>T						C15orf55_uc010ucc.1_Silent_p.L1045L|C15orf55_uc010ucd.1_Silent_p.L1035L	p.L1017L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	3206	+		all_lung(180;2.78e-08)	1017					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3051C>T	CCDS32190.1																																																																																				0.502	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741		13	50	0	0	0	1	0	13	50		
CASC5	57082	broad.mit.edu	37	15	40913088	40913088	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:40913088C>T	ENST00000346991.5	+	11	1094	c.704C>T	c.(703-705)tCa>tTa	p.S235L	CASC5_ENST00000399668.2_Missense_Mutation_p.S209L|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	235	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AACACTTCTTCAGAAAATAAA	0.308																																						uc010bbs.1		NaN																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(703-705)TCA>TTA		cancer susceptibility candidate 5 isoform 1							38.0	37.0	37.0					15																	40913088		1797	4069	5866	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40913088C>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.704C>T	15.37:g.40913088C>T	ENSP00000335463:p.Ser235Leu					CASC5_uc010ucq.1_Missense_Mutation_p.S59L|CASC5_uc001zme.2_Missense_Mutation_p.S209L|CASC5_uc010bbt.1_Missense_Mutation_p.S209L	p.S235L	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	865	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	235			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.704C>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.994031	0.54041	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.09911	2.95;2.93	6.04	6.04	0.98038	.	0.764038	0.11850	N	0.523410	T	0.32406	0.0828	M	0.64997	1.995	0.31493	N	0.665749	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.69479	0.943;0.943;0.964	T	0.06734	-1.0810	10	0.59425	D	0.04	.	16.1208	0.81357	0.1342:0.8658:0.0:0.0	.	209;235;209	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	L	235;209;209	ENSP00000335463:S235L;ENSP00000382576:S209L	ENSP00000260369:S209L	S	+	2	0	CASC5	38700380	0.208000	0.23494	0.984000	0.44739	0.374000	0.29953	1.303000	0.33470	2.873000	0.98535	0.563000	0.77884	TCA		0.308	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2		NM_144508		10	49	0	0	0	1	0	10	49		
RMDN3	55177	broad.mit.edu	37	15	41044242	41044242	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:41044242C>A	ENST00000260385.6	-	2	1389	c.322G>T	c.(322-324)Gtg>Ttg	p.V108L	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.V108L			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	108					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AGCTCCTCCACCTCCCGCCGC	0.632																																						uc001zmo.1		NaN																	0					0						c.(322-324)GTG>TTG		family with sequence similarity 82, member A2							73.0	63.0	67.0					15																	41044242		2203	4300	6503	SO:0001583	missense	55177				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	g.chr15:41044242C>A	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.322G>T	15.37:g.41044242C>A	ENSP00000260385:p.Val108Leu					FAM82A2_uc001zmp.1_Missense_Mutation_p.V108L|FAM82A2_uc001zmq.1_Missense_Mutation_p.V108L	p.V108L	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN			3	466	-			108			Potential.		A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.322G>T	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607206	0.66558	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.52057	0.68;0.68	5.34	5.34	0.76211	.	0.058668	0.64402	D	0.000002	T	0.68568	0.3015	M	0.72894	2.215	0.41969	D	0.990743	D	0.89917	1.0	D	0.80764	0.994	T	0.68006	-0.5523	10	0.40728	T	0.16	-11.8294	18.6297	0.91355	0.0:1.0:0.0:0.0	.	108	Q96TC7	RMD3_HUMAN	L	108;108;45	ENSP00000260385:V108L;ENSP00000342493:V108L	ENSP00000260385:V108L	V	-	1	0	FAM82A2	38831534	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	5.609000	0.67661	2.490000	0.84030	0.561000	0.74099	GTG		0.632	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1		NM_018145		7	81	1	0	3.09899e-07	1	3.31189e-07	7	81		
MGA	23269	broad.mit.edu	37	15	42046702	42046702	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42046702C>T	ENST00000570161.1	+	17	7076	c.7076C>T	c.(7075-7077)tCa>tTa	p.S2359L	MGA_ENST00000566586.1_Missense_Mutation_p.S2150L|MGA_ENST00000389936.4_Missense_Mutation_p.S2320L|MGA_ENST00000219905.7_Missense_Mutation_p.S2359L|MGA_ENST00000545763.1_Missense_Mutation_p.S2150L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAGAGCTCTCAGAGGAAATT	0.383																																						uc010ucy.1		NaN																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(7075-7077)TCA>TTA		MAX-interacting protein isoform 1							72.0	77.0	75.0					15																	42046702		1984	4172	6156	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42046702C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7076C>T	15.37:g.42046702C>T	ENSP00000457035:p.Ser2359Leu					MGA_uc010ucz.1_Missense_Mutation_p.S2150L|MGA_uc010uda.1_Missense_Mutation_p.S975L	p.S2359L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	18	7257	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2320			Basic motif.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7076C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695921	0.68386	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86694	-2.14;-2.13;-2.16	5.34	5.34	0.76211	.	1.184870	0.06295	N	0.699861	D	0.83732	0.5318	L	0.27053	0.805	0.22610	N	0.998932	B;B;B	0.31383	0.155;0.241;0.321	B;B;B	0.32583	0.117;0.148;0.136	T	0.73946	-0.3822	10	0.87932	D	0	.	14.7436	0.69474	0.1452:0.8548:0.0:0.0	.	975;2150;2359	B4DVS1;F5H7K2;E7ENI0	.;.;.	L	2359;2320;2150	ENSP00000219905:S2359L;ENSP00000374586:S2320L;ENSP00000442467:S2150L	ENSP00000219905:S2359L	S	+	2	0	MGA	39833994	1.000000	0.71417	0.973000	0.42090	0.544000	0.35116	3.984000	0.56923	2.503000	0.84419	0.484000	0.47621	TCA		0.383	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		3	5	0	0	0	1	0	3	5		
MGA	23269	broad.mit.edu	37	15	42046722	42046722	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42046722C>T	ENST00000570161.1	+	17	7096	c.7096C>T	c.(7096-7098)Cac>Tac	p.H2366Y	MGA_ENST00000566586.1_Missense_Mutation_p.H2157Y|MGA_ENST00000389936.4_Missense_Mutation_p.H2327Y|MGA_ENST00000219905.7_Missense_Mutation_p.H2366Y|MGA_ENST00000545763.1_Missense_Mutation_p.H2157Y			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAATGTTGCTCACCTGAAGAC	0.398																																						uc010ucy.1		NaN																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(7096-7098)CAC>TAC		MAX-interacting protein isoform 1							76.0	82.0	80.0					15																	42046722		1982	4157	6139	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42046722C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7096C>T	15.37:g.42046722C>T	ENSP00000457035:p.His2366Tyr					MGA_uc010ucz.1_Missense_Mutation_p.H2157Y|MGA_uc010uda.1_Missense_Mutation_p.H982Y	p.H2366Y	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	18	7277	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2327			Basic motif.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7096C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	5.778	0.327828	0.10956	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83419	-1.72;-1.72;-1.71	5.34	3.45	0.39498	.	1.226840	0.05820	N	0.615596	T	0.68128	0.2967	N	0.04508	-0.205	0.22305	N	0.999212	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.53158	-0.8478	10	0.25751	T	0.34	.	11.1589	0.48503	0.0:0.8482:0.0:0.1518	.	982;2157;2366	B4DVS1;F5H7K2;E7ENI0	.;.;.	Y	2366;2327;2157	ENSP00000219905:H2366Y;ENSP00000374586:H2327Y;ENSP00000442467:H2157Y	ENSP00000219905:H2366Y	H	+	1	0	MGA	39834014	0.998000	0.40836	0.571000	0.28486	0.426000	0.31534	2.376000	0.44292	0.617000	0.30160	0.484000	0.47621	CAC		0.398	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		3	4	0	0	0	1	0	3	4		
SPTBN5	51332	broad.mit.edu	37	15	42185575	42185575	+	Missense_Mutation	SNP	C	C	T	rs371870337		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42185575C>T	ENST00000320955.6	-	2	348	c.121G>A	c.(121-123)Gag>Aag	p.E41K	RP11-23P13.6_ENST00000309874.2_RNA|RP11-23P13.7_ENST00000605942.1_lincRNA|RP11-23P13.6_ENST00000562920.1_RNA|RP11-23P13.6_ENST00000564432.2_RNA|RP11-23P13.6_ENST00000568861.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	41	Actin-binding.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGGCCCGTCTCGTACTGAGAG	0.622																																						uc001zos.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(16-18)GAG>AAG		spectrin, beta, non-erythrocytic 5							54.0	56.0	56.0					15																	42185575		2030	4176	6206	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42185575C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.121G>A	15.37:g.42185575C>T	ENSP00000317790:p.Glu41Lys					uc010bcp.1_RNA	p.E6K	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	2	349	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	41			Actin-binding.			Missense_Mutation	SNP	ENST00000320955.6	37	c.16G>A		.	.	.	.	.	.	.	.	.	.	C	29.9	5.049113	0.93740	.	.	ENSG00000137877	ENST00000320955	D	0.95788	-3.81	5.32	4.4	0.53042	Calponin homology domain (1);	0.000000	0.53938	D	0.000059	D	0.97548	0.9197	M	0.84948	2.725	0.28089	N	0.931879	D	0.89917	1.0	D	0.73708	0.981	D	0.93951	0.7232	10	0.66056	D	0.02	.	13.2759	0.60188	0.0:0.9232:0.0:0.0768	.	41	Q9NRC6	SPTN5_HUMAN	K	41	ENSP00000317790:E41K	ENSP00000317790:E41K	E	-	1	0	SPTBN5	39972867	0.995000	0.38212	0.476000	0.27291	0.905000	0.53344	4.284000	0.58983	1.248000	0.43934	0.655000	0.94253	GAG		0.622	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1		NM_016642		7	31	0	0	0	1	0	7	31		
TP53BP1	7158	broad.mit.edu	37	15	43739643	43739643	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:43739643G>A	ENST00000263801.3	-	13	2994	c.2742C>T	c.(2740-2742)atC>atT	p.I914I	TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000450115.2_Silent_p.I919I|TP53BP1_ENST00000382044.4_Silent_p.I919I|TP53BP1_ENST00000382039.3_Silent_p.I919I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	914					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATGGTGGGATGATATCACCTT	0.343								Other conserved DNA damage response genes																														uc001zrs.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(2740-2742)ATC>ATT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							102.0	98.0	99.0					15																	43739643		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43739643G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2742C>T	15.37:g.43739643G>A						TP53BP1_uc010udp.1_Silent_p.I914I|TP53BP1_uc001zrq.3_Silent_p.I919I|TP53BP1_uc001zrr.3_Silent_p.I919I|TP53BP1_uc010udq.1_Silent_p.I919I	p.I914I	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	13	2890	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	914					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.2742C>T	CCDS10096.1																																																																																				0.343	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3				32	59	0	0	0	1	0	32	59		
MAP1A	4130	broad.mit.edu	37	15	43814035	43814035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:43814035G>A	ENST00000300231.5	+	4	814	c.364G>A	c.(364-366)Gac>Aac	p.D122N	MAP1A_ENST00000382031.1_Missense_Mutation_p.D360N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D122N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	122					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGTTACAGCGACTGGGTGAA	0.552																																						uc001zrt.2		NaN																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(364-366)GAC>AAC		microtubule-associated protein 1A	Estramustine(DB01196)						127.0	133.0	131.0					15																	43814035		2056	4207	6263	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43814035G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.364G>A	15.37:g.43814035G>A	ENSP00000300231:p.Asp122Asn						p.D122N	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	831	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	122					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.364G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161102	0.57368	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.26518	1.73;1.73;1.73	5.1	5.1	0.69264	.	.	.	.	.	T	0.57213	0.2038	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.64067	-0.6494	9	0.87932	D	0	-16.8475	18.7051	0.91635	0.0:0.0:1.0:0.0	.	122	P78559	MAP1A_HUMAN	N	360;122;122;122	ENSP00000371462:D360N;ENSP00000382380:D122N;ENSP00000300231:D122N	ENSP00000300231:D122N	D	+	1	0	MAP1A	41601327	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	9.657000	0.98554	2.659000	0.90383	0.561000	0.74099	GAC		0.552	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		22	70	0	0	0	1	0	22	70		
EIF3J	8669	broad.mit.edu	37	15	44849735	44849735	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:44849735G>C	ENST00000261868.5	+	6	596	c.458G>C	c.(457-459)aGa>aCa	p.R153T	EIF3J_ENST00000535391.1_Intron|EIF3J_ENST00000424492.3_Missense_Mutation_p.R104T|RP11-151N17.1_ENST00000558006.1_RNA	NM_003758.2	NP_003749.2			eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CCATCTTCAAGAGATGACTTT	0.318																																						uc001ztv.2		NaN																	0					0						c.(457-459)AGA>ACA		eukaryotic translation initiation factor 3,							72.0	78.0	76.0					15																	44849735		2198	4296	6494	SO:0001583	missense	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44849735G>C	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000261868.5:c.458G>C	15.37:g.44849735G>C	ENSP00000261868:p.Arg153Thr					EIF3J_uc010ueg.1_Intron|EIF3J_uc001ztw.2_Missense_Mutation_p.R104T	p.R153T	NM_003758	NP_003749	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	6	585	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	153						Missense_Mutation	SNP	ENST00000261868.5	37	c.458G>C	CCDS10111.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.109804|4.109804	0.77096|0.77096	.|.	.|.	ENSG00000104131|ENSG00000104131	ENST00000536248|ENST00000261868;ENST00000424492	.|T;T	.|0.46063	.|0.88;0.88	5.77|5.77	5.77|5.77	0.91146|0.91146	.|Eukaryotic translation initiation factor 3-like domain (1);	.|0.086936	.|0.85682	.|D	.|0.000000	T|T	0.43787|0.43787	0.1263|0.1263	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52692	.|0.949;0.955	.|P;P	.|0.51701	.|0.677;0.579	T|T	0.35895|0.35895	-0.9770|-0.9770	5|10	.|0.66056	.|D	.|0.02	.|.	10.9914|10.9914	0.47551|0.47551	0.1124:0.0:0.8876:0.0|0.1124:0.0:0.8876:0.0	.|.	.|104;153	.|F5H425;O75822	.|.;EIF3J_HUMAN	N|T	31|153;104	.|ENSP00000261868:R153T;ENSP00000414548:R104T	.|ENSP00000261868:R153T	K|R	+|+	3|2	2|0	EIF3J|EIF3J	42637027|42637027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.757000|5.757000	0.68766|0.68766	2.722000|2.722000	0.93159|0.93159	0.555000|0.555000	0.69702|0.69702	AAG|AGA		0.318	EIF3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253850.1		NM_003758		14	58	0	0	0	1	0	14	58		
SPG11	80208	broad.mit.edu	37	15	44900791	44900791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:44900791C>A	ENST00000261866.7	-	19	3320	c.3304G>T	c.(3304-3306)Gaa>Taa	p.E1102*	SPG11_ENST00000558319.1_Nonsense_Mutation_p.E1102*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.E1102*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.E1102*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1102					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCATTTTCTTCATTCTGAACA	0.373																																						uc001ztx.2		NaN																	0				ovary(4)|skin(1)	5						c.(3304-3306)GAA>TAA		spatacsin isoform 1							81.0	74.0	77.0					15																	44900791		2198	4298	6496	SO:0001587	stop_gained	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44900791C>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3304G>T	15.37:g.44900791C>A	ENSP00000261866:p.Glu1102*					SPG11_uc010ueh.1_Nonsense_Mutation_p.E1102*|SPG11_uc010uei.1_Nonsense_Mutation_p.E1102*	p.E1102*	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	19	3335	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1102			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	ENST00000261866.7	37	c.3304G>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	41	9.112758	0.99069	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	5.88	4.94	0.65067	.	0.345496	0.29908	N	0.010890	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	13.847	0.63474	0.0:0.9233:0.0:0.0767	.	.	.	.	X	1102	.	ENSP00000261866:E1102X	E	-	1	0	SPG11	42688083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.824000	0.48088	1.418000	0.47098	0.655000	0.94253	GAA		0.373	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1				5	28	1	0	0.184627	1	0.184921	5	28		
DUOX1	53905	broad.mit.edu	37	15	45424173	45424173	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:45424173C>T	ENST00000321429.4	+	3	416	c.9C>T	c.(7-9)ttC>ttT	p.F3F	DUOXA1_ENST00000267803.4_5'Flank|DUOXA1_ENST00000559014.1_5'Flank|DUOXA1_ENST00000558996.1_5'Flank|DUOXA1_ENST00000559407.1_5'Flank|DUOXA1_ENST00000558422.1_5'Flank|DUOX1_ENST00000389037.3_Silent_p.F3F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	3					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCATGGGCTTCTGCCTGGCTC	0.507																																						uc001zus.1		NaN																	0				ovary(5)|skin(2)|breast(1)	8						c.(7-9)TTC>TTT		dual oxidase 1 precursor							119.0	128.0	125.0					15																	45424173		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45424173C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.9C>T	15.37:g.45424173C>T						DUOXA1_uc001zup.2_5'Flank|DUOXA1_uc010bec.2_5'Flank|DUOXA1_uc001zur.1_5'Flank|DUOXA1_uc010bed.1_5'Flank|DUOX1_uc001zut.1_Silent_p.F3F|DUOX1_uc010bee.1_5'UTR	p.F3F	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	3	355	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	3					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.9C>T	CCDS32221.1																																																																																				0.507	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1		NM_017434		16	66	0	0	0	1	0	16	66		
FBN1	2200	broad.mit.edu	37	15	48720649	48720649	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:48720649C>T	ENST00000316623.5	-	57	7346	c.6891G>A	c.(6889-6891)acG>acA	p.T2297T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2297	EGF-like 40; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCCTGGCTTCGTCTGACATT	0.488																																						uc001zwx.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(6889-6891)ACG>ACA		fibrillin 1 precursor							127.0	100.0	109.0					15																	48720649		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48720649C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6891G>A	15.37:g.48720649C>T						FBN1_uc010beo.1_RNA	p.T2297T	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	57	7219	-		all_lung(180;0.00279)	2297			EGF-like 40; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.6891G>A	CCDS32232.1																																																																																				0.488	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				6	39	0	0	0	1	0	6	39		
FBN1	2200	broad.mit.edu	37	15	48791227	48791227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:48791227G>C	ENST00000316623.5	-	18	2577	c.2122C>G	c.(2122-2124)Cag>Gag	p.Q708E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	708	TB 3.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGAGTGCCTGATATTCCGCT	0.453																																						uc001zwx.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(2122-2124)CAG>GAG		fibrillin 1 precursor							148.0	140.0	143.0					15																	48791227		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48791227G>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2122C>G	15.37:g.48791227G>C	ENSP00000325527:p.Gln708Glu						p.Q708E	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	18	2450	-		all_lung(180;0.00279)	708			TB 3.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2122C>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818578	0.50633	.	.	ENSG00000166147	ENST00000316623	D	0.92249	-3.0	5.62	5.62	0.85841	Matrix fibril-associated (3);TGF-beta binding (1);	0.125415	0.56097	D	0.000031	D	0.89805	0.6821	L	0.55743	1.74	0.80722	D	1	P	0.43169	0.8	B	0.39339	0.297	D	0.87893	0.2685	10	0.19590	T	0.45	.	18.2185	0.89894	0.0:0.0:1.0:0.0	.	708	P35555	FBN1_HUMAN	E	708	ENSP00000325527:Q708E	ENSP00000325527:Q708E	Q	-	1	0	FBN1	46578519	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.506000	0.81665	2.661000	0.90470	0.655000	0.94253	CAG		0.453	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				22	105	0	0	0	1	0	22	105		
ONECUT1	3175	broad.mit.edu	37	15	53081808	53081808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:53081808C>A	ENST00000305901.5	-	1	401	c.274G>T	c.(274-276)Gag>Tag	p.E92*	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	92					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GGGGGAGTCTCGCAGGCCATG	0.677																																						uc002aci.1		NaN																	0					0						c.(274-276)GAG>TAG		one cut homeobox 1							58.0	51.0	53.0					15																	53081808		2194	4293	6487	SO:0001587	stop_gained	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081808C>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.274G>T	15.37:g.53081808C>A	ENSP00000302630:p.Glu92*						p.E92*	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	402	-			92					B2RTV4|Q99744|Q9UMR6	Nonsense_Mutation	SNP	ENST00000305901.5	37	c.274G>T	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.866950	0.97043	.	.	ENSG00000169856	ENST00000305901	.	.	.	4.17	4.17	0.49024	.	0.060668	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.0344	15.2159	0.73267	0.0:1.0:0.0:0.0	.	.	.	.	X	92	.	ENSP00000302630:E92X	E	-	1	0	ONECUT1	50869100	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.382000	0.79729	2.144000	0.66660	0.436000	0.28706	GAG		0.677	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2				9	12	1	0	3.09899e-07	1	3.31189e-07	9	12		
IGDCC4	57722	broad.mit.edu	37	15	65687479	65687479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:65687479C>T	ENST00000352385.2	-	8	1738	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	510	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCGGCTGGCTCCCAGCTGGGA	0.567																																						uc002aou.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1528-1530)GGA>GAA		immunoglobulin superfamily, DCC subclass, member							69.0	67.0	68.0					15																	65687479		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65687479C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1529G>A	15.37:g.65687479C>T	ENSP00000319623:p.Gly510Glu					IGDCC4_uc002aot.1_Missense_Mutation_p.G98E	p.G510E	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			8	1739	-			510			Extracellular (Potential).|Fibronectin type-III 1.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.1529G>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040122	0.93630	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.64618	-0.11	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89279	0.3610	10	0.87932	D	0	-27.3271	19.6981	0.96039	0.0:1.0:0.0:0.0	.	510	Q8TDY8	IGDC4_HUMAN	E	510;239	ENSP00000319623:G510E	ENSP00000319623:G510E	G	-	2	0	IGDCC4	63474532	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.818000	0.86416	2.659000	0.90383	0.563000	0.77884	GGA		0.567	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2		NM_020962		9	28	0	0	0	1	0	9	28		
ITGA11	22801	broad.mit.edu	37	15	68596209	68596209	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:68596209G>T	ENST00000315757.7	-	29	3482	c.3396C>A	c.(3394-3396)atC>atA	p.I1132I	ITGA11_ENST00000423218.2_Silent_p.I1133I|RP11-709B3.2_ENST00000569808.1_lincRNA	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1132					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CTTGCTTGGAGATCTCAAACA	0.637																																						uc002ari.2		NaN																	0				kidney(2)|pancreas(1)	3						c.(3394-3396)ATC>ATA		integrin, alpha 11 precursor	Tirofiban(DB00775)						41.0	44.0	43.0					15																	68596209		1880	4096	5976	SO:0001819	synonymous_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68596209G>T	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.3396C>A	15.37:g.68596209G>T						ITGA11_uc010bib.2_Silent_p.I1133I	p.I1132I	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			29	3483	-			1132			Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	c.3396C>A	CCDS45291.1																																																																																				0.637	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_012211		12	49	1	0	5.50884e-06	1	5.79878e-06	12	49		
TLE3	7090	broad.mit.edu	37	15	70347433	70347433	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:70347433G>T	ENST00000558939.1	-	15	2919	c.1542C>A	c.(1540-1542)atC>atA	p.I514I	TLE3_ENST00000558379.1_Silent_p.I509I|TLE3_ENST00000560589.1_Silent_p.I458I|TLE3_ENST00000559048.1_Silent_p.I514I|TLE3_ENST00000558201.1_Silent_p.I520I|TLE3_ENST00000559929.1_Silent_p.I524I|TLE3_ENST00000440567.3_Silent_p.I504I|TLE3_ENST00000451782.2_Silent_p.I511I|TLE3_ENST00000557997.1_Silent_p.I506I|TLE3_ENST00000317509.8_Silent_p.I502I|TLE3_ENST00000557907.1_Silent_p.I506I|TLE3_ENST00000539550.1_Silent_p.I441I|TLE3_ENST00000442299.2_Silent_p.I506I|TLE3_ENST00000559191.1_Silent_p.I95I|TLE3_ENST00000560939.1_Silent_p.I516I	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	514					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGGCTGGCTGATGTCCCAGA	0.642																																						uc002asm.2		NaN																	0				lung(2)	2						c.(1540-1542)ATC>ATA		transducin-like enhancer protein 3 isoform a							45.0	47.0	47.0					15																	70347433		2199	4298	6497	SO:0001819	synonymous_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70347433G>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1542C>A	15.37:g.70347433G>T						TLE3_uc002ask.2_Silent_p.I441I|TLE3_uc002asl.2_Silent_p.I514I|TLE3_uc010ukd.1_Silent_p.I504I|TLE3_uc010bik.1_Silent_p.I95I|TLE3_uc010bil.1_Silent_p.I511I|TLE3_uc002asn.2_Silent_p.I502I|TLE3_uc002asp.2_Silent_p.I506I|TLE3_uc002aso.2_Silent_p.I509I	p.I514I	NM_005078	NP_005069	Q04726	TLE3_HUMAN			15	2661	-			514			WD 1.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Silent	SNP	ENST00000558939.1	37	c.1542C>A	CCDS45293.1																																																																																				0.642	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1		NM_005078		6	17	1	0	0.00116845	1	0.00119403	6	17		
NEO1	4756	broad.mit.edu	37	15	73409170	73409170	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:73409170C>T	ENST00000339362.5	+	3	867	c.420C>T	c.(418-420)atC>atT	p.I140I	NEO1_ENST00000560262.1_Silent_p.I140I|NEO1_ENST00000558964.1_Silent_p.I140I|NEO1_ENST00000261908.6_Silent_p.I140I			Q92859	NEO1_HUMAN	neogenin 1	140	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAACTATTATCAGTAGAACAG	0.333																																						uc002avm.3		NaN																	0				pancreas(1)	1						c.(418-420)ATC>ATT		neogenin homolog 1 precursor							92.0	91.0	91.0					15																	73409170		2198	4296	6494	SO:0001819	synonymous_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73409170C>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.420C>T	15.37:g.73409170C>T						NEO1_uc010ukx.1_Silent_p.I140I|NEO1_uc010uky.1_Silent_p.I140I|NEO1_uc010ukz.1_5'UTR	p.I140I	NM_002499	NP_002490	Q92859	NEO1_HUMAN			2	562	+			140			Extracellular (Potential).|Ig-like C2-type 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	c.420C>T	CCDS10247.1																																																																																				0.333	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2		NM_002499		19	73	0	0	0	1	0	19	73		
UBL7	84993	broad.mit.edu	37	15	74749005	74749005	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:74749005G>T	ENST00000567435.1	-	3	655	c.192C>A	c.(190-192)atC>atA	p.I64I	UBL7_ENST00000395081.2_Silent_p.I64I|UBL7_ENST00000361351.4_Silent_p.I64I|UBL7_ENST00000565335.1_Silent_p.I64I|UBL7_ENST00000564488.1_Silent_p.I64I			Q96S82	UBL7_HUMAN	ubiquitin-like 7	64	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GACCACAGTAGATCAGATCTA	0.418																																						uc002axw.1		NaN																	0				ovary(1)	1						c.(190-192)ATC>ATA		ubiquitin-like 7							143.0	131.0	135.0					15																	74749005		2197	4296	6493	SO:0001819	synonymous_variant	84993						protein binding	g.chr15:74749005G>T	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.192C>A	15.37:g.74749005G>T						UBL7_uc002axx.1_Silent_p.I104I|UBL7_uc010bjr.1_Intron|UBL7_uc002axy.1_Silent_p.I64I|UBL7_uc002axz.1_Silent_p.I64I	p.I64I	NM_032907	NP_116296	Q96S82	UBL7_HUMAN			3	354	-			64			Ubiquitin-like.		D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	c.192C>A	CCDS10263.1																																																																																				0.418	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1		NM_032907, NM_201265		12	87	1	0	0.000151284	1	0.000156888	12	87		
UBL7	84993	broad.mit.edu	37	15	74751198	74751198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:74751198G>A	ENST00000567435.1	-	2	474	c.11C>T	c.(10-12)tCa>tTa	p.S4L	UBL7-AS1_ENST00000567286.1_RNA|UBL7-AS1_ENST00000564137.1_RNA|UBL7-AS1_ENST00000499217.2_RNA|UBL7_ENST00000395081.2_Missense_Mutation_p.S4L|UBL7-AS1_ENST00000568853.1_RNA|UBL7_ENST00000361351.4_Missense_Mutation_p.S4L|UBL7_ENST00000565335.1_Missense_Mutation_p.S4L|UBL7_ENST00000564488.1_Missense_Mutation_p.S4L|UBL7-AS1_ENST00000564621.1_RNA			Q96S82	UBL7_HUMAN	ubiquitin-like 7	4										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTGCCAGTCTGAGAGAGACAT	0.527																																						uc002axw.1		NaN																	0				ovary(1)	1						c.(10-12)TCA>TTA		ubiquitin-like 7							89.0	93.0	92.0					15																	74751198		2197	4296	6493	SO:0001583	missense	84993						protein binding	g.chr15:74751198G>A	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.11C>T	15.37:g.74751198G>A	ENSP00000457703:p.Ser4Leu					UBL7_uc002axx.1_Missense_Mutation_p.S44L|UBL7_uc010bjr.1_Intron|UBL7_uc002axy.1_Missense_Mutation_p.S4L|UBL7_uc002axz.1_Missense_Mutation_p.S4L|uc002aya.2_5'Flank|uc002ayb.2_5'Flank	p.S4L	NM_032907	NP_116296	Q96S82	UBL7_HUMAN			2	173	-			4					D3DW57|Q96I03	Missense_Mutation	SNP	ENST00000567435.1	37	c.11C>T	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457997	0.84317	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	T;T	0.56941	0.43;0.43	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	L	0.27053	0.805	0.80722	D	1	P;P	0.43750	0.816;0.734	B;B	0.37601	0.245;0.254	T	0.50709	-0.8796	10	0.72032	D	0.01	-10.4509	18.3489	0.90331	0.0:0.0:1.0:0.0	.	44;4	D3DW56;Q96S82	.;UBL7_HUMAN	L	4	ENSP00000354883:S4L;ENSP00000378518:S4L	ENSP00000354883:S4L	S	-	2	0	UBL7	72538251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.270000	0.78493	2.432000	0.82394	0.561000	0.74099	TCA		0.527	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1		NM_032907, NM_201265		23	106	0	0	0	1	0	23	106		
SCAPER	49855	broad.mit.edu	37	15	77057793	77057793	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:77057793G>A	ENST00000563290.1	-	13	1593	c.1498C>T	c.(1498-1500)Cgt>Tgt	p.R500C	SCAPER_ENST00000324767.7_Missense_Mutation_p.R500C|SCAPER_ENST00000538941.2_Missense_Mutation_p.R254C			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	500	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CAAGACTCACGAGCTGTTCAG	0.393																																						uc002bby.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1498-1500)CGT>TGT		S-phase cyclin A-associated protein in the ER							78.0	70.0	72.0					15																	77057793		1855	4082	5937	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77057793G>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1498C>T	15.37:g.77057793G>A	ENSP00000454973:p.Arg500Cys					SCAPER_uc002bbx.2_Missense_Mutation_p.R254C|SCAPER_uc002bbz.1_Missense_Mutation_p.R371C|SCAPER_uc002bca.1_Missense_Mutation_p.R365C|SCAPER_uc002bcb.1_Missense_Mutation_p.R506C|SCAPER_uc002bcc.1_Missense_Mutation_p.R500C	p.R500C	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			12	1557	-			499			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.1498C>T	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845370	0.71603	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.25912	1.79;1.77	5.64	5.64	0.86602	.	0.050216	0.85682	D	0.000000	T	0.37320	0.0999	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.959;0.939	T	0.14008	-1.0488	10	0.59425	D	0.04	.	14.5257	0.67887	0.0:0.0:0.8535:0.1465	.	500;521;254	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	C	500;254;522	ENSP00000326924:R500C;ENSP00000442190:R254C	ENSP00000303560:R522C	R	-	1	0	SCAPER	74844848	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	6.158000	0.71851	2.660000	0.90430	0.455000	0.32223	CGT		0.393	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		16	34	0	0	0	1	0	16	34		
SH2D7	646892	broad.mit.edu	37	15	78386496	78386496	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:78386496C>T	ENST00000328828.5	+	2	219	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SNORA63_ENST00000362763.1_RNA|SH2D7_ENST00000409568.2_5'UTR	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	73	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									endometrium(2)|kidney(2)|lung(3)	7						TTGGTTCCTTCCTTATCCGCC	0.567																																						uc010blb.1		NaN																	0					0						c.(217-219)TTC>TTT		SH2 domain containing 7							70.0	72.0	72.0					15																	78386496		2043	4189	6232	SO:0001819	synonymous_variant	646892							g.chr15:78386496C>T		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.219C>T	15.37:g.78386496C>T							p.F73F	NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN			2	219	+			73			SH2.			Silent	SNP	ENST00000328828.5	37	c.219C>T	CCDS45315.1																																																																																				0.567	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2		NM_001101404		3	10	0	0	0	1	0	3	10		
FAH	2184	broad.mit.edu	37	15	80465456	80465456	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:80465456C>T	ENST00000407106.1	+	10	962	c.807C>T	c.(805-807)ctC>ctT	p.L269L	FAH_ENST00000539156.1_Silent_p.L199L|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Silent_p.L269L|FAH_ENST00000261755.5_Silent_p.L269L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	269					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGATGCTCTCATGCCCTTTG	0.577									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bfj.2		NaN																	0					0						c.(805-807)CTC>CTT		fumarylacetoacetase							201.0	165.0	177.0					15																	80465456		2203	4300	6503	SO:0001819	synonymous_variant	2184	Tyrosinemia_type_1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80465456C>T	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.807C>T	15.37:g.80465456C>T			OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1198	FAH_uc002bfk.1_Silent_p.L269L|FAH_uc002bfm.1_Silent_p.L269L|FAH_uc002bfn.1_Silent_p.L199L	p.L269L	NM_000137	NP_000128	P16930	FAAA_HUMAN			10	889	+			269					B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	c.807C>T	CCDS10314.1																																																																																				0.577	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2				37	87	0	0	0	1	0	37	87		
ALPK3	57538	broad.mit.edu	37	15	85400425	85400425	+	Missense_Mutation	SNP	G	G	A	rs116079740		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:85400425G>A	ENST00000258888.5	+	6	3229	c.3062G>A	c.(3061-3063)cGa>cAa	p.R1021Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1021					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGAGATGCCGAGGGCCACAG	0.647													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18032	0.0		0.0	False		,,,				2504	0.0					uc002ble.2		NaN																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(3061-3063)CGA>CAA		alpha-kinase 3		A	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	65.0	58.0	60.0		3062	-7.0	0.0	15	dbSNP_132	60	0,8598		0,0,4299	no	missense	ALPK3	NM_020778.4	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	1021/1908	85400425	1,13003	2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400425G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3062G>A	15.37:g.85400425G>A	ENSP00000258888:p.Arg1021Gln						p.R1021Q	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3229	+			1021					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.3062G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	g	0.479	-0.880767	0.02530	2.27E-4	0.0	ENSG00000136383	ENST00000258888	T	0.57907	0.37	3.51	-7.02	0.01589	.	3.015930	0.01430	N	0.014706	T	0.20007	0.0481	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25606	-1.0127	10	0.08837	T	0.75	7.915	3.6585	0.08230	0.2533:0.2091:0.4336:0.1039	.	1021	Q96L96	ALPK3_HUMAN	Q	1021	ENSP00000258888:R1021Q	ENSP00000258888:R1021Q	R	+	2	0	ALPK3	83201429	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.567000	0.00214	-2.790000	0.00356	-1.559000	0.00887	CGA		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1		NM_020778		5	46	0	0	0	1	0	5	46		
ACAN	176	broad.mit.edu	37	15	89382250	89382250	+	Missense_Mutation	SNP	G	G	A	rs372286756		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:89382250G>A	ENST00000561243.1	+	2	427	c.427G>A	c.(427-429)Gag>Aag	p.E143K	ACAN_ENST00000558207.1_Missense_Mutation_p.E143K|ACAN_ENST00000559004.1_Missense_Mutation_p.E143K|ACAN_ENST00000439576.2_Missense_Mutation_p.E143K|ACAN_ENST00000352105.7_Missense_Mutation_p.E143K			P16112	PGCA_HUMAN	aggrecan	143	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGGACAGCGAGGCCACCCT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		20105	0.0		0.001	False		,,,				2504	0.0					uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(427-429)GAG>AAG		aggrecan isoform 2 precursor		G	LYS/GLU,LYS/GLU	0,4246		0,0,2123	78.0	85.0	83.0		427,427	-1.8	0.8	15		83	2,8468		0,2,4233	no	missense,missense	ACAN	NM_001135.3,NM_013227.3	56,56	0,2,6356	AA,AG,GG		0.0236,0.0,0.0157	benign,benign	143/2432,143/2531	89382250	2,12714	2123	4235	6358	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382250G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.427G>A	15.37:g.89382250G>A	ENSP00000453342:p.Glu143Lys					ACAN_uc002bmx.2_Missense_Mutation_p.E143K|ACAN_uc010upp.1_Missense_Mutation_p.E143K|ACAN_uc002bna.2_RNA	p.E143K	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	801	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		143					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.427G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131793	0.56828	0.0	2.36E-4	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02890	4.12;4.12	5.6	-1.78	0.07957	.	0.258297	0.20384	N	0.093395	T	0.01222	0.0040	N	0.02011	-0.69	0.29780	N	0.834076	B;B;B	0.21309	0.054;0.054;0.007	B;B;B	0.13407	0.009;0.009;0.009	T	0.39057	-0.9632	10	0.51188	T	0.08	-8.6033	10.1032	0.42517	0.2351:0.5861:0.1788:0.0	.	143;143;143	E7ENV9;E7EX88;Q6PID9	.;.;.	K	143	ENSP00000387356:E143K;ENSP00000341615:E143K	ENSP00000268134:E143K	E	+	1	0	ACAN	87183254	0.039000	0.19947	0.769000	0.31535	0.964000	0.63967	0.072000	0.14617	-0.138000	0.11434	0.655000	0.94253	GAG		0.622	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		22	95	0	0	0	1	0	22	95		
POLG	5428	broad.mit.edu	37	15	89867416	89867416	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:89867416C>A	ENST00000268124.5	-	11	2325	c.1992G>T	c.(1990-1992)ggG>ggT	p.G664G	POLG_ENST00000442287.2_Silent_p.G664G	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	664					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTGCTGCTTCCCCTGTTCGA	0.602								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	uc002bns.3		NaN																	0				ovary(1)|lung(1)	2						c.(1990-1992)GGG>GGT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							67.0	59.0	62.0					15																	89867416		2200	4299	6499	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89867416C>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1992G>T	15.37:g.89867416C>A						POLG_uc002bnr.3_Silent_p.G664G	p.G664G	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		11	2274	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		664					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.1992G>T	CCDS10350.1																																																																																				0.602	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2		NM_002693		8	52	1	0	0.000157383	1	0.00016281	8	52		
TICRR	90381	broad.mit.edu	37	15	90127692	90127692	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:90127692C>G	ENST00000268138.7	+	3	1215	c.1110C>G	c.(1108-1110)agC>agG	p.S370R	RP11-429B14.3_ENST00000560477.1_RNA|RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.S369R			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	370					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CAGAGGAGAGCACAGCAACTC	0.502																																						uc002boe.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(1108-1110)AGC>AGG		leucine-rich repeat kinase 1							76.0	76.0	76.0					15																	90127692		1971	4150	6121	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90127692C>G	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1110C>G	15.37:g.90127692C>G	ENSP00000268138:p.Ser370Arg						p.S370R	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		3	1110	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		370					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.1110C>G	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	4.033	0.003740	0.07866	.	.	ENSG00000140534	ENST00000268138	T	0.13901	2.55	5.17	-4.07	0.03975	.	1.036830	0.07555	N	0.916063	T	0.03783	0.0107	N	0.02011	-0.69	0.09310	N	1	B	0.32160	0.358	B	0.30572	0.117	T	0.42085	-0.9472	10	0.16896	T	0.51	-0.0741	5.7751	0.18275	0.0:0.4177:0.2223:0.36	.	370	Q7Z2Z1	TICRR_HUMAN	R	370	ENSP00000268138:S370R	ENSP00000268138:S370R	S	+	3	2	C15orf42	87928696	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.965000	0.03829	-0.569000	0.06030	0.585000	0.79938	AGC		0.502	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1		NM_152259		17	63	0	0	0	1	0	17	63		
UNC45A	55898	broad.mit.edu	37	15	91483662	91483662	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:91483662C>T	ENST00000418476.2	+	6	686	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	UNC45A_ENST00000394275.2_Silent_p.L201L|UNC45A_ENST00000553671.2_3'UTR	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	216					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)			GCTGGCGGCTCTGCGTACGCT	0.552																																						uc002bqg.2		NaN																	0				ovary(2)	2						c.(646-648)CTG>TTG		smooth muscle cell associated protein-1 isoform							191.0	138.0	156.0					15																	91483662		2198	4298	6496	SO:0001819	synonymous_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91483662C>T		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.646C>T	15.37:g.91483662C>T						UNC45A_uc002bqd.2_Silent_p.L201L|UNC45A_uc010uqo.1_Silent_p.L208L|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Silent_p.L216L	p.L216L	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		6	986	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		216					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	ENST00000418476.2	37	c.646C>T	CCDS10367.1																																																																																				0.552	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2		NM_018671		16	59	0	0	0	1	0	16	59		
RGMA	56963	broad.mit.edu	37	15	93595352	93595352	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:93595352C>T	ENST00000329082.7	-	3	787	c.516G>A	c.(514-516)agG>agA	p.R172R	RGMA_ENST00000542321.2_Silent_p.R156R|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Silent_p.R180R|RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000425933.2_Silent_p.R156R|RGMA_ENST00000543599.1_Silent_p.R156R|RGMA_ENST00000556658.1_Silent_p.R63R|RGMA_ENST00000556087.1_Silent_p.R156R|RGMA_ENST00000538818.1_Silent_p.R63R	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	172					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CGGTGAAAGTCCTGAGGTGTG	0.602																																						uc002bss.1		NaN																	0					0						c.(514-516)AGG>AGA		RGM domain family, member A precursor							53.0	66.0	62.0					15																	93595352		2127	4220	6347	SO:0001819	synonymous_variant	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93595352C>T	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.516G>A	15.37:g.93595352C>T						RGMA_uc002bsq.1_Silent_p.R156R|RGMA_uc010boi.1_Silent_p.R63R|RGMA_uc002bsr.1_Silent_p.R63R|RGMA_uc010urc.1_Silent_p.R180R	p.R172R	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		3	788	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		172					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	ENST00000329082.7	37	c.516G>A	CCDS45357.1																																																																																				0.602	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1		NM_020211		6	19	0	0	0	1	0	6	19		
SYNM	23336	broad.mit.edu	37	15	99672778	99672778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:99672778C>T	ENST00000336292.6	+	5	4330	c.4210C>T	c.(4210-4212)Cga>Tga	p.R1404*	SYNM_ENST00000328642.7_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1405	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TAGGCACATTCGACTAGGTCC	0.517																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(4213-4215)CGA>TGA		desmuslin isoform A							225.0	219.0	221.0					15																	99672778		1995	4178	6173	SO:0001587	stop_gained	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672778C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4210C>T	15.37:g.99672778C>T	ENSP00000336775:p.Arg1404*					SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	p.R1405*	NM_145728	NP_663780	O15061	SYNEM_HUMAN			6	4333	+			1405			Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	ENST00000336292.6	37	c.4213C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.824051	0.98968	.	.	ENSG00000182253	ENST00000336292	.	.	.	5.52	0.929	0.19449	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	4.374	0.11262	0.51:0.3078:0.1019:0.0803	.	.	.	.	X	1404	.	ENSP00000336775:R1404X	R	+	1	2	SYNM	97490301	0.015000	0.18098	0.002000	0.10522	0.262000	0.26303	0.356000	0.20181	0.230000	0.21059	0.655000	0.94253	CGA		0.517	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_145728		49	172	0	0	0	1	0	49	172		
RHBDF1	64285	broad.mit.edu	37	16	109026	109026	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:109026C>T	ENST00000262316.6	-	17	2236	c.2094G>A	c.(2092-2094)ctG>ctA	p.L698L		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	698					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGACACCACTCAGCAGGTAGA	0.617																																						uc002cfl.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(2092-2094)CTG>CTA		rhomboid family 1							66.0	57.0	60.0					16																	109026		2203	4300	6503	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:109026C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2094G>A	16.37:g.109026C>T							p.L698L	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN			20	2242	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	698			Helical; (Potential).		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.2094G>A	CCDS32344.1																																																																																				0.617	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2		NM_022450		7	77	0	0	0	1	0	7	77		
RHBDF1	64285	broad.mit.edu	37	16	113674	113674	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:113674C>T	ENST00000262316.6	-	4	515	c.373G>A	c.(373-375)Gac>Aac	p.D125N	RHBDF1_ENST00000454039.2_Missense_Mutation_p.D125N	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	125					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTGGGCAGGTCCAGCTCCCGG	0.647																																						uc002cfl.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(373-375)GAC>AAC		rhomboid family 1							83.0	73.0	77.0					16																	113674		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:113674C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.373G>A	16.37:g.113674C>T	ENSP00000262316:p.Asp125Asn					RHBDF1_uc010uty.1_Missense_Mutation_p.D148N|RHBDF1_uc010utz.1_Missense_Mutation_p.D125N|RHBDF1_uc010bqo.1_RNA	p.D125N	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN			7	521	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	125			Cytoplasmic (Potential).		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.373G>A	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.570324	0.86542	.	.	ENSG00000007384	ENST00000262316;ENST00000454039;ENST00000338527;ENST00000450643;ENST00000420545	T;T;T	0.68025	-0.3;-0.3;-0.3	5.13	5.13	0.70059	.	0.050596	0.85682	D	0.000000	T	0.63010	0.2475	L	0.44542	1.39	0.58432	D	0.999994	P;P;B	0.37573	0.494;0.6;0.006	B;B;B	0.39935	0.146;0.314;0.034	T	0.61282	-0.7094	10	0.30854	T	0.27	-34.394	17.9106	0.88932	0.0:1.0:0.0:0.0	.	125;148;125	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	N	125;125;161;125;161	ENSP00000262316:D125N;ENSP00000392133:D125N;ENSP00000408915:D125N	ENSP00000262316:D125N	D	-	1	0	RHBDF1	53674	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.713000	0.84693	2.543000	0.85770	0.563000	0.77884	GAC		0.647	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2		NM_022450		15	45	0	0	0	1	0	15	45		
WDR24	84219	broad.mit.edu	37	16	735939	735939	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:735939G>C	ENST00000248142.6	-	9	1892	c.1893C>G	c.(1891-1893)gaC>gaG	p.D631E	JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.D501E|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	631										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTTTGCTGCGGTCCAGCCGCG	0.642																																						uc002ciz.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1501-1503)GAC>GAG		WD repeat domain 24							102.0	98.0	99.0					16																	735939		2200	4300	6500	SO:0001583	missense	84219							g.chr16:735939G>C	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1893C>G	16.37:g.735939G>C	ENSP00000248142:p.Asp631Glu					JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	p.D501E	NM_032259	NP_115635	Q96S15	WDR24_HUMAN			5	2263	-		Hepatocellular(780;0.0218)	631					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.1503C>G		.	.	.	.	.	.	.	.	.	.	G	4.377	0.069483	0.08436	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.75477	-0.94;0.48	5.32	-0.965	0.10323	.	0.058410	0.64402	D	0.000002	T	0.45637	0.1352	N	0.08118	0	0.32491	N	0.540251	B	0.02656	0.0	B	0.01281	0.0	T	0.31194	-0.9952	10	0.18710	T	0.47	-39.1968	6.4934	0.22127	0.3579:0.2226:0.4194:0.0	.	501	Q96S15-2	.	E	631;501	ENSP00000248142:D631E;ENSP00000293883:D501E	ENSP00000248142:D631E	D	-	3	2	WDR24	675940	.	.	0.998000	0.56505	0.564000	0.35744	.	.	-0.025000	0.13918	-0.150000	0.13652	GAC		0.642	WDR24-201	KNOWN	basic	protein_coding	protein_coding			NM_032259		16	118	0	0	0	1	0	16	118		
TELO2	9894	broad.mit.edu	37	16	1544331	1544331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:1544331C>G	ENST00000262319.6	+	2	328	c.49C>G	c.(49-51)Cat>Gat	p.H17D		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	17					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGAAGCCATTCATGCCCTCTC	0.622											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002cly.2		NaN																	0					0						c.(49-51)CAT>GAT		TEL2, telomere maintenance 2, homolog							90.0	87.0	88.0					16																	1544331		2199	4300	6499	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1544331C>G	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.49C>G	16.37:g.1544331C>G	ENSP00000262319:p.His17Asp		OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	596	TELO2_uc010uvg.1_Missense_Mutation_p.H17D	p.H17D	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN			2	340	+		Hepatocellular(780;0.219)	17					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.49C>G	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288942	0.40494	.	.	ENSG00000100726	ENST00000262319	T	0.13657	2.57	4.69	3.66	0.41972	.	0.576246	0.18656	N	0.134874	T	0.12817	0.0311	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.26121	-1.0112	10	0.11485	T	0.65	-16.2499	9.9483	0.41623	0.0:0.7929:0.2071:0.0	.	17	Q9Y4R8	TELO2_HUMAN	D	17	ENSP00000262319:H17D	ENSP00000262319:H17D	H	+	1	0	TELO2	1484332	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.905000	0.28504	2.146000	0.66826	0.561000	0.74099	CAT		0.622	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2		NM_016111		61	120	0	0	0	1	0	61	120		
RPS2	6187	broad.mit.edu	37	16	2012818	2012818	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2012818G>A	ENST00000343262.4	-	5	524	c.468C>T	c.(466-468)atC>atT	p.I156I	SNHG9_ENST00000459373.1_lincRNA|RPS2_ENST00000526522.1_Intron|SNORA64_ENST00000384674.1_RNA|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000529806.1_Silent_p.I126I|RPS2_ENST00000530225.1_Silent_p.I156I	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	156	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GCTTGGCCAGGATGATGGCCC	0.607																																						uc002cnn.2		NaN																	0					0						c.(466-468)ATC>ATT		ribosomal protein S2							23.0	24.0	23.0					16																	2012818		2176	4216	6392	SO:0001819	synonymous_variant	6187				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	g.chr16:2012818G>A	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.468C>T	16.37:g.2012818G>A						RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Intron|RPS2_uc002cnm.2_Intron|RPS2_uc002cno.2_Silent_p.I156I|SNORA10_uc002cnp.1_5'Flank|SNHG9_uc002cnr.2_5'Flank|SNORA78_uc002cns.1_5'Flank	p.I156I	NM_002952	NP_002943	P15880	RS2_HUMAN			4	656	-			156			S5 DRBM.		B2R5G0|D3DU82|Q3MIB1	Silent	SNP	ENST00000343262.4	37	c.468C>T	CCDS10452.1																																																																																				0.607	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2		NM_002952		8	38	0	0	0	1	0	8	38		
SLC9A3R2	9351	broad.mit.edu	37	16	2090035	2090035	+	IGR	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2090035C>A	ENST00000424542.2	+	0	2194				NTHL1_ENST00000219066.1_Nonsense_Mutation_p.E277*|NTHL1_ENST00000562951.1_5'UTR	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2						negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						CCATTGATCTCGTGCCACAGC	0.662																																					Ovarian(69;105 1552 17724 23473)	uc002col.1		NaN																	0				lung(1)	1						c.(829-831)GAG>TAG	BER_DNA_glycosylases	nth endonuclease III-like 1							51.0	55.0	53.0					16																	2090035		2197	4300	6497	SO:0001628	intergenic_variant	4913				depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2090035C>A	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956		16.37:g.2090035C>A						NTHL1_uc002com.1_Nonsense_Mutation_p.E278*	p.E277*	NM_002528	NP_002519	P78549	NTHL1_HUMAN			6	848	-			277					D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Nonsense_Mutation	SNP	ENST00000424542.2	37	c.829G>T	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	c	13.12	2.142658	0.37825	.	.	ENSG00000065057	ENST00000219066	.	.	.	3.92	3.92	0.45320	.	0.052209	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-35.704	13.2413	0.59997	0.0:1.0:0.0:0.0	.	.	.	.	X	277	.	ENSP00000219066:E277X	E	-	1	0	NTHL1	2030036	0.998000	0.40836	0.885000	0.34714	0.320000	0.28249	3.888000	0.56204	2.029000	0.59856	0.401000	0.26515	GAG		0.662	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1				28	71	1	0	1.16021e-09	1	1.28009e-09	28	71		
CASKIN1	57524	broad.mit.edu	37	16	2237188	2237188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2237188C>A	ENST00000343516.6	-	8	906	c.814G>T	c.(814-816)Gag>Tag	p.E272*	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	272					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCTTGATCTCCCTGCTGGCC	0.667																																						uc010bsg.1		NaN																	0				skin(2)	2						c.(814-816)GAG>TAG		CASK interacting protein 1							80.0	81.0	81.0					16																	2237188		2149	4253	6402	SO:0001587	stop_gained	57524				signal transduction	cytoplasm		g.chr16:2237188C>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.814G>T	16.37:g.2237188C>A	ENSP00000345436:p.Glu272*						p.E272*	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			8	846	-			272					Q9P2P0	Nonsense_Mutation	SNP	ENST00000343516.6	37	c.814G>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	38	6.911773	0.97928	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	.	.	.	3.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.8839	14.5237	0.67873	0.0:1.0:0.0:0.0	.	.	.	.	X	272;101	.	ENSP00000345436:E272X	E	-	1	0	CASKIN1	2177189	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.552000	0.82192	2.068000	0.61886	0.462000	0.41574	GAG		0.667	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1		NM_020764		14	53	1	0	1.5842e-08	1	1.72077e-08	14	53		
DNASE1L2	1775	broad.mit.edu	37	16	2286829	2286829	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2286829C>T	ENST00000564065.1	+	1	1013	c.12C>T	c.(10-12)ccC>ccT	p.P4P	DNASE1L2_ENST00000320700.5_Silent_p.P4P|DNASE1L2_ENST00000567494.1_Silent_p.P4P|DNASE1L2_ENST00000382437.4_Silent_p.P4P|RP11-304L19.12_ENST00000564055.1_lincRNA			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	4					corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						TGGGCGGGCCCCGGGCTCTGC	0.706																																						uc002cpo.2		NaN																	0					0						c.(10-12)CCC>CCT		deoxyribonuclease I-like 2 precursor																																				SO:0001819	synonymous_variant	1775				DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding	g.chr16:2286829C>T	U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.12C>T	16.37:g.2286829C>T						DNASE1L2_uc002cpn.2_Silent_p.P4P|DNASE1L2_uc002cpp.2_Silent_p.P4P|DNASE1L2_uc002cpq.2_Silent_p.P4P	p.P4P	NM_001374	NP_001365	Q92874	DNSL2_HUMAN			1	406	+			4					E9PBY4|Q6JVM2|Q6JVM3	Silent	SNP	ENST00000564065.1	37	c.12C>T	CCDS42105.1																																																																																				0.706	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435236.1		NM_001374		4	9	0	0	0	1	0	4	9		
SRRM2	23524	broad.mit.edu	37	16	2808485	2808485	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2808485C>G	ENST00000301740.8	+	5	1079	c.530C>G	c.(529-531)tCt>tGt	p.S177C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	177	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTCGGGAGTCTAGCAGTTCT	0.408																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(529-531)TCT>TGT		splicing coactivator subunit SRm300							167.0	172.0	170.0					16																	2808485		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2808485C>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.530C>G	16.37:g.2808485C>G	ENSP00000301740:p.Ser177Cys					SRRM2_uc002crj.1_Missense_Mutation_p.S81C|SRRM2_uc002crl.1_Missense_Mutation_p.S177C|SRRM2_uc010bsu.1_Missense_Mutation_p.S81C	p.S177C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			5	1079	+			177			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.530C>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206647	0.58343	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.27402	1.67	5.15	5.15	0.70609	.	0.122339	0.37437	N	0.002081	T	0.31358	0.0794	L	0.40543	1.245	0.30227	N	0.796241	D	0.59767	0.986	P	0.44623	0.455	T	0.31251	-0.9950	10	0.72032	D	0.01	-3.0756	16.1099	0.81255	0.0:1.0:0.0:0.0	.	177	Q9UQ35	SRRM2_HUMAN	C	177;177;81;142	ENSP00000301740:S177C	ENSP00000301740:S177C	S	+	2	0	SRRM2	2748486	0.997000	0.39634	0.990000	0.47175	0.957000	0.61999	4.534000	0.60622	2.382000	0.81193	0.650000	0.86243	TCT		0.408	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				22	188	0	0	0	1	0	22	188		
DNAJA3	9093	broad.mit.edu	37	16	4500496	4500496	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:4500496C>G	ENST00000262375.6	+	10	1414	c.1337C>G	c.(1336-1338)tCt>tGt	p.S446C	DNAJA3_ENST00000355296.4_Missense_Mutation_p.S446C|DNAJA3_ENST00000431375.2_Missense_Mutation_p.S293C	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	446					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CTCACCAGCTCTGGTAAGGAG	0.607																																						uc002cwk.2		NaN																	0				ovary(2)|breast(2)	4						c.(1336-1338)TCT>TGT		DnaJ (Hsp40) homolog, subfamily A, member 3							41.0	32.0	35.0					16																	4500496		2197	4296	6493	SO:0001583	missense	9093				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding	g.chr16:4500496C>G	AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.1337C>G	16.37:g.4500496C>G	ENSP00000262375:p.Ser446Cys					DNAJA3_uc002cwl.2_Missense_Mutation_p.S446C|DNAJA3_uc010uxk.1_Missense_Mutation_p.S293C	p.S446C	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN			10	1362	+			446					B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	c.1337C>G	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088819	0.76756	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.65178	-0.14;-0.11;0.87	5.63	5.63	0.86233	.	0.321128	0.37955	N	0.001863	T	0.55940	0.1952	N	0.19112	0.55	0.40787	D	0.98322	P;B;B	0.36837	0.571;0.377;0.391	B;B;B	0.41440	0.264;0.357;0.155	T	0.62134	-0.6918	10	0.72032	D	0.01	-4.2752	18.6707	0.91510	0.0:1.0:0.0:0.0	.	293;446;446	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	C	446;446;293	ENSP00000262375:S446C;ENSP00000347445:S446C;ENSP00000393970:S293C	ENSP00000262375:S446C	S	+	2	0	DNAJA3	4440497	0.998000	0.40836	0.998000	0.56505	0.900000	0.52787	5.771000	0.68881	2.659000	0.90383	0.561000	0.74099	TCT		0.607	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1				5	8	0	0	0	1	0	5	8		
PPL	5493	broad.mit.edu	37	16	4933533	4933533	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:4933533G>C	ENST00000345988.2	-	22	5212	c.5123C>G	c.(5122-5124)tCa>tGa	p.S1708*	PPL_ENST00000590782.2_Nonsense_Mutation_p.S1706*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1708					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GTGTATCACTGAGGACTCCCC	0.557																																						uc002cyd.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(5122-5124)TCA>TGA		periplakin							97.0	83.0	88.0					16																	4933533		2197	4300	6497	SO:0001587	stop_gained	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4933533G>C	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.5123C>G	16.37:g.4933533G>C	ENSP00000340510:p.Ser1708*						p.S1708*	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	5213	-			1708			Plectin 2.		O60314|O60454|Q14C98	Nonsense_Mutation	SNP	ENST00000345988.2	37	c.5123C>G	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	43	10.298978	0.99378	.	.	ENSG00000118898	ENST00000345988	.	.	.	5.69	5.69	0.88448	.	0.075502	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	.	.	.	X	1708	.	ENSP00000340510:S1708X	S	-	2	0	PPL	4873534	1.000000	0.71417	0.959000	0.39883	0.796000	0.44982	9.476000	0.97823	2.700000	0.92200	0.561000	0.74099	TCA		0.557	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		20	57	0	0	0	1	0	20	57		
TVP23A	780776	broad.mit.edu	37	16	10911962	10911962	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:10911962G>A	ENST00000299866.8	-	2	378	c.87C>T	c.(85-87)atC>atT	p.I29I	TVP23A_ENST00000572980.1_Intron	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	29						integral component of membrane (GO:0016021)											CAACACACCTGATCTTGGCTT	0.507																																						uc010buo.1		NaN																	0					0						c.(85-87)ATC>ATT		hypothetical protein LOC780776							61.0	69.0	66.0					16																	10911962		1998	4170	6168	SO:0001819	synonymous_variant	780776					integral to membrane		g.chr16:10911962G>A		CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member A"""	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.87C>T	16.37:g.10911962G>A						FAM18A_uc010uyr.1_RNA|FAM18A_uc010uys.1_RNA|FAM18A_uc010uyt.1_RNA|FAM18A_uc010bun.2_RNA|FAM18A_uc010uyu.1_RNA|FAM18A_uc002dad.3_Intron|FAM18A_uc002daf.1_RNA	p.I29I	NM_001079512	NP_001072980	A6NH52	FA18A_HUMAN			2	358	-			29					B2RUV4|B7ZW18	Silent	SNP	ENST00000299866.8	37	c.87C>T	CCDS45408.1																																																																																				0.507	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1		NM_001079512		3	10	0	0	0	1	0	3	10		
CLEC16A	23274	broad.mit.edu	37	16	11145494	11145494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:11145494G>A	ENST00000409790.1	+	18	2221	c.1991G>A	c.(1990-1992)cGg>cAg	p.R664Q	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R646Q	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAGAAGACCCGGCGGGTGAGT	0.602																																						uc002dao.2		NaN																	1	Whole gene deletion(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(1)|central_nervous_system(1)	2						c.(1990-1992)CGG>CAG		C-type lectin domain family 16, member A							56.0	64.0	62.0					16																	11145494		2042	4180	6222	SO:0001583	missense	23274							g.chr16:11145494G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1991G>A	16.37:g.11145494G>A	ENSP00000387122:p.Arg664Gln					CLEC16A_uc002dan.3_Missense_Mutation_p.R646Q	p.R664Q	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			18	2221	+			664						Missense_Mutation	SNP	ENST00000409790.1	37	c.1991G>A	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312291	0.95655	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.60797	0.16	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.67517	2.055	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.984;0.99	T	0.73474	-0.3971	10	0.42905	T	0.14	-20.4743	16.4287	0.83833	0.0:0.0:1.0:0.0	.	664;646	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	Q	664;664;646	ENSP00000387122:R664Q	ENSP00000386495:R646Q	R	+	2	0	CLEC16A	11052995	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.864000	0.92294	2.472000	0.83506	0.655000	0.94253	CGG		0.602	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2		NM_015226		17	83	0	0	0	1	0	17	83		
NOMO1	23420	broad.mit.edu	37	16	14958467	14958467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:14958467G>C	ENST00000287667.7	+	13	1592	c.1421G>C	c.(1420-1422)aGa>aCa	p.R474T		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	474						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GCAGAAACCAGAGCAGGGCTG	0.532																																						uc002dcv.2		NaN																	0				ovary(1)	1						c.(1420-1422)AGA>ACA		nodal modulator 1 precursor							192.0	199.0	197.0					16																	14958467		2195	4300	6495	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14958467G>C	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.1421G>C	16.37:g.14958467G>C	ENSP00000287667:p.Arg474Thr						p.R474T	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			13	1487	+			474			Extracellular (Potential).		P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.1421G>C	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	8.190	0.795745	0.16327	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04015	3.73	3.21	3.21	0.36854	.	0.055180	0.64402	D	0.000001	T	0.05364	0.0142	L	0.57536	1.79	0.47476	D	0.999434	P	0.34462	0.454	B	0.29598	0.104	T	0.39583	-0.9607	10	0.13108	T	0.6	-20.0173	12.3445	0.55114	0.0:0.0:1.0:0.0	.	474	Q15155	NOMO1_HUMAN	T	474;474;307	ENSP00000287667:R474T	ENSP00000287667:R474T	R	+	2	0	NOMO1	14865968	1.000000	0.71417	0.990000	0.47175	0.772000	0.43724	4.909000	0.63314	1.780000	0.52325	0.392000	0.25879	AGA		0.532	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1				74	212	0	0	0	1	0	74	212		
ABCC1	4363	broad.mit.edu	37	16	16103752	16103752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:16103752C>G	ENST00000399410.3	+	3	520	c.345C>G	c.(343-345)atC>atG	p.I115M	ABCC1_ENST00000345148.5_Missense_Mutation_p.I115M|ABCC1_ENST00000346370.5_Missense_Mutation_p.I115M|ABCC1_ENST00000351154.5_Missense_Mutation_p.I115M|ABCC1_ENST00000349029.5_Missense_Mutation_p.I115M|ABCC1_ENST00000399408.2_Missense_Mutation_p.I115M	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	115					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TCTTGGGCATCACCATGGTAA	0.507																																						uc010bvi.2		NaN																	0				ovary(4)	4						c.(343-345)ATC>ATG		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						86.0	86.0	86.0					16																	16103752		1934	4126	6060	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16103752C>G	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.345C>G	16.37:g.16103752C>G	ENSP00000382342:p.Ile115Met					ABCC1_uc010bvj.2_Missense_Mutation_p.I115M|ABCC1_uc010bvk.2_Missense_Mutation_p.I115M|ABCC1_uc010bvl.2_Missense_Mutation_p.I115M|ABCC1_uc010bvm.2_Missense_Mutation_p.I115M|ABCC1_uc002del.3_Translation_Start_Site	p.I115M	NM_004996	NP_004987	P33527	MRP1_HUMAN			3	520	+			115			Helical; Name=3.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.345C>G	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.590992	0.28357	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.04	2.88	0.33553	.	0.357145	0.31589	N	0.007389	T	0.39708	0.1088	L	0.46741	1.465	0.30597	N	0.760959	B;B;P;B;B	0.36048	0.081;0.014;0.534;0.081;0.399	B;B;P;B;B	0.45343	0.033;0.025;0.477;0.033;0.344	T	0.41466	-0.9507	10	0.48119	T	0.1	-13.9109	5.1737	0.15124	0.4154:0.4677:0.0:0.1169	.	115;115;115;115;115	P33527-5;P33527-4;P33527-3;P33527-2;P33527	.;.;.;.;MRP1_HUMAN	M	115	ENSP00000382342:I115M;ENSP00000382340:I115M;ENSP00000263019:I115M;ENSP00000263017:I115M;ENSP00000263014:I115M;ENSP00000263016:I115M	ENSP00000263014:I115M	I	+	3	3	ABCC1	16011253	0.819000	0.29175	1.000000	0.80357	0.996000	0.88848	-0.066000	0.11598	1.082000	0.41137	0.542000	0.68232	ATC		0.507	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996		19	75	0	0	0	1	0	19	75		
DNAH3	55567	broad.mit.edu	37	16	20976008	20976008	+	Missense_Mutation	SNP	G	G	C	rs61746919	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:20976008G>C	ENST00000261383.3	-	53	9197	c.9198C>G	c.(9196-9198)atC>atG	p.I3066M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3066	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCCATTGTCGATGGAGAAGG	0.502																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(9196-9198)ATC>ATG		dynein, axonemal, heavy chain 3							81.0	73.0	76.0					16																	20976008		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976008G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9198C>G	16.37:g.20976008G>C	ENSP00000261383:p.Ile3066Met					DNAH3_uc010vbd.1_Missense_Mutation_p.I501M	p.I3066M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9198	-			3066			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.9198C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569777	0.45798	.	.	ENSG00000158486	ENST00000261383	T	0.42513	0.97	5.88	-5.0	0.03001	.	0.189196	0.44688	D	0.000437	T	0.51024	0.1650	M	0.87180	2.865	0.80722	D	1	D	0.54772	0.968	P	0.60068	0.868	T	0.54853	-0.8231	10	0.62326	D	0.03	.	1.1937	0.01870	0.2558:0.1108:0.3102:0.3233	.	3066	Q8TD57	DYH3_HUMAN	M	3066	ENSP00000261383:I3066M	ENSP00000261383:I3066M	I	-	3	3	DNAH3	20883509	0.014000	0.17966	0.954000	0.39281	0.950000	0.60333	-0.665000	0.05286	-0.895000	0.03920	-0.459000	0.05422	ATC		0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		16	70	0	0	0	1	0	16	70		
DNAH3	55567	broad.mit.edu	37	16	20996973	20996973	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:20996973C>T	ENST00000261383.3	-	48	7090	c.7091G>A	c.(7090-7092)gGa>gAa	p.G2364E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2364					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAATAATCTCCAAAGAAGAG	0.433																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7090-7092)GGA>GAA		dynein, axonemal, heavy chain 3							111.0	107.0	108.0					16																	20996973		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20996973C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7091G>A	16.37:g.20996973C>T	ENSP00000261383:p.Gly2364Glu					DNAH3_uc010vbd.1_5'Flank	p.G2364E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7091	-			2364					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7091G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630837	0.67015	.	.	ENSG00000158486	ENST00000261383	T	0.25414	1.8	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000002	T	0.68137	0.2968	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81441	-0.0931	10	0.56958	D	0.05	.	18.2085	0.89863	0.0:1.0:0.0:0.0	.	2364	Q8TD57	DYH3_HUMAN	E	2364	ENSP00000261383:G2364E	ENSP00000261383:G2364E	G	-	2	0	DNAH3	20904474	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.741000	0.84997	2.381000	0.81170	0.655000	0.94253	GGA		0.433	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		42	112	0	0	0	1	0	42	112		
DNAH3	55567	broad.mit.edu	37	16	21115865	21115865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:21115865C>A	ENST00000261383.3	-	16	2292	c.2293G>T	c.(2293-2295)Gaa>Taa	p.E765*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.E765*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	765	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGATATCTTCAATCTGGTCT	0.478																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(2293-2295)GAA>TAA		dynein, axonemal, heavy chain 3							167.0	154.0	159.0					16																	21115865		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21115865C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2293G>T	16.37:g.21115865C>A	ENSP00000261383:p.Glu765*					DNAH3_uc002die.2_Nonsense_Mutation_p.E719*	p.E765*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	16	2293	-			765			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.2293G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	39	7.323156	0.98210	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	.	.	.	5.91	5.91	0.95273	.	0.068970	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	19.07	0.93130	0.0:1.0:0.0:0.0	.	.	.	.	X	765;765;719	.	ENSP00000261383:E765X	E	-	1	0	DNAH3	21023366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.962000	0.40442	2.793000	0.96121	0.655000	0.94253	GAA		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		48	117	1	0	6.68952e-21	1	7.69753e-21	48	117		
EEF2K	29904	broad.mit.edu	37	16	22291646	22291646	+	Missense_Mutation	SNP	G	G	A	rs531682732		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:22291646G>A	ENST00000263026.5	+	17	2491	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	673					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CAGGGAGGCCGAGATGCTGTT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18040	0.0		0.0	False		,,,				2504	0.001				NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2		NaN																	0				large_intestine(1)	1						c.(2017-2019)GAG>AAG		elongation factor-2 kinase							76.0	55.0	62.0					16																	22291646		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22291646G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.2017G>A	16.37:g.22291646G>A	ENSP00000263026:p.Glu673Lys					EEF2K_uc002dkh.2_RNA	p.E673K	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	17	2502	+			673					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.2017G>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.770833	0.69992	.	.	ENSG00000103319	ENST00000263026	T	0.53857	0.6	5.31	5.31	0.75309	Tetratricopeptide-like helical (1);	0.044558	0.85682	D	0.000000	T	0.55065	0.1897	M	0.62723	1.935	0.80722	D	1	P	0.39847	0.691	B	0.38880	0.284	T	0.61466	-0.7057	10	0.62326	D	0.03	-9.7254	18.9821	0.92758	0.0:0.0:1.0:0.0	.	673	O00418	EF2K_HUMAN	K	673	ENSP00000263026:E673K	ENSP00000263026:E673K	E	+	1	0	EEF2K	22199147	1.000000	0.71417	0.946000	0.38457	0.265000	0.26407	9.439000	0.97543	2.481000	0.83766	0.561000	0.74099	GAG		0.637	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2		NM_013302		9	44	0	0	0	1	0	9	44		
USP31	57478	broad.mit.edu	37	16	23119406	23119406	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:23119406G>C	ENST00000219689.7	-	2	731	c.732C>G	c.(730-732)ctC>ctG	p.L244L		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	197	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGAATGGTTGAGGTCTTCAT	0.512																																						uc002dll.2		NaN																	0				ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(730-732)CTC>CTG		ubiquitin specific peptidase 31							101.0	91.0	94.0					16																	23119406		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23119406G>C	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.732C>G	16.37:g.23119406G>C							p.L244L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	2	732	-			244					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.732C>G	CCDS10607.1																																																																																				0.512	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1		NM_020718		20	46	0	0	0	1	0	20	46		
UBFD1	56061	broad.mit.edu	37	16	23581875	23581875	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:23581875C>G	ENST00000395878.3	+	7	1275	c.894C>G	c.(892-894)atC>atG	p.I298M	UBFD1_ENST00000219638.4_Missense_Mutation_p.I522M|UBFD1_ENST00000567212.1_Missense_Mutation_p.I289M|CTD-2196E14.6_ENST00000568262.2_RNA	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	298							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TGGATGCAATCAAAGACACTG	0.512																																					Melanoma(22;290 1069 22358 48158)	uc002dlv.2		NaN																	0					0						c.(892-894)ATC>ATG		ubiquitin-binding protein homolog							116.0	112.0	113.0					16																	23581875		1879	4125	6004	SO:0001583	missense	56061							g.chr16:23581875C>G	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.894C>G	16.37:g.23581875C>G	ENSP00000379217:p.Ile298Met						p.I298M	NM_019116	NP_061989	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	7	1096	+			298					A8MW58|D3DWF2	Missense_Mutation	SNP	ENST00000395878.3	37	c.894C>G	CCDS10613.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075102	0.76415	.	.	ENSG00000103353	ENST00000219638;ENST00000395878;ENST00000399462	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86492	0.1798	9	0.87932	D	0	-7.0745	18.2402	0.89965	0.0:1.0:0.0:0.0	.	298	O14562	UBFD1_HUMAN	M	522;298;175	.	ENSP00000219638:I522M	I	+	3	3	UBFD1	23489376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.557000	0.86248	0.655000	0.94253	ATC		0.512	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2		NM_019116		20	120	0	0	0	1	0	20	120		
RBBP6	5930	broad.mit.edu	37	16	24566966	24566966	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:24566966G>A	ENST00000319715.4	+	5	811	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	RBBP6_ENST00000348022.2_Missense_Mutation_p.E127K|RBBP6_ENST00000381039.3_Missense_Mutation_p.E127K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	127					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAATGCTTCTGAAGAAGATAA	0.363																																						uc002dmh.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(379-381)GAA>AAA		retinoblastoma-binding protein 6 isoform 1							110.0	115.0	113.0					16																	24566966		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24566966G>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.379G>A	16.37:g.24566966G>A	ENSP00000317872:p.Glu127Lys					RBBP6_uc010vcb.1_5'UTR|RBBP6_uc002dmi.2_Missense_Mutation_p.E127K|RBBP6_uc010bxr.2_Missense_Mutation_p.E127K|RBBP6_uc002dmk.2_5'UTR	p.E127K	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	5	1419	+			127					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.379G>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641909	0.87859	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.24151	1.87;2.07;2.12	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.99;0.997;0.994	T	0.55964	-0.8057	10	0.87932	D	0	-26.9377	20.0361	0.97558	0.0:0.0:1.0:0.0	.	127;127;127	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	K	127	ENSP00000370427:E127K;ENSP00000317872:E127K;ENSP00000316291:E127K	ENSP00000317872:E127K	E	+	1	0	RBBP6	24474467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.740000	0.93945	0.563000	0.77884	GAA		0.363	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2		NM_006910		21	120	0	0	0	1	0	21	120		
ZKSCAN2	342357	broad.mit.edu	37	16	25251684	25251684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:25251684C>T	ENST00000328086.7	-	7	3160	c.2357G>A	c.(2356-2358)aGa>aAa	p.R786K	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	786					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCTCCTGCTTCTACCAAAGCA	0.453																																						uc002dod.3		NaN																	0				ovary(3)|breast(1)	4						c.(2356-2358)AGA>AAA		zinc finger with KRAB and SCAN domains 2							53.0	52.0	53.0					16																	25251684		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251684C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2357G>A	16.37:g.25251684C>T	ENSP00000331626:p.Arg786Lys					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R582K	p.R786K	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	2764	-			786			C2H2-type 1.		A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2357G>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	7.484	0.649359	0.14516	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.15603	2.41	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.220091	0.36628	N	0.002494	T	0.14141	0.0342	L	0.42581	1.335	0.09310	N	0.999996	B;B	0.28820	0.004;0.224	B;B	0.21151	0.002;0.033	T	0.12502	-1.0545	10	0.42905	T	0.14	-19.2748	9.9897	0.41863	0.0:0.9115:0.0:0.0885	.	582;786	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	K	786	ENSP00000331626:R786K	ENSP00000331626:R786K	R	-	2	0	ZKSCAN2	25159185	0.000000	0.05858	0.997000	0.53966	0.029000	0.11900	0.016000	0.13377	2.826000	0.97356	0.655000	0.94253	AGA		0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1		NM_001012981		15	68	0	0	0	1	0	15	68		
IL21R	50615	broad.mit.edu	37	16	27456503	27456503	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:27456503A>G	ENST00000337929.3	+	7	1164	c.691A>G	c.(691-693)Aag>Gag	p.K231E	IL21R_ENST00000564089.1_Missense_Mutation_p.K231E|IL21R_ENST00000564583.1_3'UTR|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.K231E|IL21R_ENST00000395754.4_Missense_Mutation_p.K231E	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	231					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCCAGAGTTAAAGGAAGGCTG	0.532			T	BCL6	NHL																																	uc002doq.1		NaN		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				ovary(2)|lung(1)|breast(1)	4						c.(691-693)AAG>GAG		interleukin 21 receptor precursor							124.0	96.0	106.0					16																	27456503		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27456503A>G	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.691A>G	16.37:g.27456503A>G	ENSP00000338010:p.Lys231Glu					IL21R_uc002dor.1_Missense_Mutation_p.K231E|IL21R_uc002dos.1_Missense_Mutation_p.K231E	p.K231E	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			7	924	+			231			Extracellular (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.691A>G	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	A	0.848	-0.739446	0.03088	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.95724	-3.79;-3.79;-3.79	3.29	-0.286	0.12862	.	0.419692	0.23055	N	0.052447	D	0.87406	0.6169	L	0.38838	1.175	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.71705	-0.4512	10	0.06891	T	0.86	-16.3009	2.9899	0.05980	0.4931:0.2341:0.2728:0.0	.	231	Q9HBE5	IL21R_HUMAN	E	231	ENSP00000338010:K231E;ENSP00000379104:K231E;ENSP00000379103:K231E	ENSP00000338010:K231E	K	+	1	0	IL21R	27364004	0.000000	0.05858	0.001000	0.08648	0.147000	0.21601	0.109000	0.15417	-0.077000	0.12752	0.459000	0.35465	AAG		0.532	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2		NM_181078		11	31	0	0	0	1	0	11	31		
SBK1	388228	broad.mit.edu	37	16	28331409	28331409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:28331409G>T	ENST00000341901.4	+	4	1231	c.442G>T	c.(442-444)Gag>Tag	p.E148*		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						GGGGCTCCCTGAGGACACGGT	0.711																																						uc002dpd.2		NaN																	0				ovary(1)|kidney(1)	2						c.(442-444)GAG>TAG		SH3-binding kinase 1							6.0	8.0	7.0					16																	28331409		2125	4177	6302	SO:0001587	stop_gained	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28331409G>T		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.442G>T	16.37:g.28331409G>T	ENSP00000343248:p.Glu148*						p.E148*	NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN			4	1231	+			148			Protein kinase.			Nonsense_Mutation	SNP	ENST00000341901.4	37	c.442G>T	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	G	44	10.906195	0.99486	.	.	ENSG00000188322	ENST00000341901	.	.	.	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.1955	13.9542	0.64137	0.0:0.0:1.0:0.0	.	.	.	.	X	148	.	ENSP00000343248:E148X	E	+	1	0	SBK1	28238910	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	9.505000	0.97989	1.846000	0.53633	0.561000	0.74099	GAG		0.711	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1		XM_370948		4	12	1	0	0.184627	1	0.184921	4	12		
MVP	9961	broad.mit.edu	37	16	29852916	29852916	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:29852916G>A	ENST00000357402.5	+	9	1329		c.e9-1		MVP_ENST00000452209.2_Splice_Site|MVP_ENST00000395353.1_Splice_Site	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein						cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTCGTCCCAAGGTGCGCGCTG	0.637																																						uc002dui.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.e9-1		major vault protein							21.0	21.0	21.0					16																	29852916		2196	4293	6489	SO:0001630	splice_region_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29852916G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1192-1G>A	16.37:g.29852916G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_Splice_Site|MVP_uc002duj.2_Splice_Site_p.V398_splice|MVP_uc010vea.1_Splice_Site	p.V398_splice	NM_005115	NP_005106	Q14764	MVP_HUMAN			9	1276	+								Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Splice_Site	SNP	ENST00000357402.5	37	c.1192_splice	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853810	0.32791	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1387	0.86747	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MVP	29760417	1.000000	0.71417	0.890000	0.34922	0.029000	0.11900	7.616000	0.83018	2.627000	0.88993	0.563000	0.77884	.		0.637	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3		NM_005115	Intron	9	28	0	0	0	1	0	9	28		
ALDOA	226	broad.mit.edu	37	16	30078815	30078815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30078815G>A	ENST00000566897.1	+	6	1309	c.157G>A	c.(157-159)Gag>Aag	p.E53K	ALDOA_ENST00000338110.5_Missense_Mutation_p.E53K|ALDOA_ENST00000412304.2_Missense_Mutation_p.E53K|ALDOA_ENST00000569545.1_Missense_Mutation_p.E53K|ALDOA_ENST00000564546.1_Missense_Mutation_p.E53K|ALDOA_ENST00000569798.1_Missense_Mutation_p.E53K|ALDOA_ENST00000395240.3_Missense_Mutation_p.E53K|ALDOA_ENST00000563060.2_Missense_Mutation_p.E53K|ALDOA_ENST00000564595.2_Missense_Mutation_p.E107K|ALDOA_ENST00000395248.1_Missense_Mutation_p.E107K			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	53					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CGAGAACACCGAGGAGAACCG	0.607																																						uc002dvw.2		NaN																	0				lung(1)	1						c.(157-159)GAG>AAG		fructose-bisphosphate aldolase A							40.0	41.0	40.0					16																	30078815		2197	4300	6497	SO:0001583	missense	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30078815G>A	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.157G>A	16.37:g.30078815G>A	ENSP00000455724:p.Glu53Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.E53K|ALDOA_uc002dvy.2_Missense_Mutation_p.E53K|ALDOA_uc002dvz.2_Missense_Mutation_p.E53K|ALDOA_uc002dwa.3_Missense_Mutation_p.E53K|ALDOA_uc002dwb.1_Missense_Mutation_p.E53K|ALDOA_uc002dwc.2_Missense_Mutation_p.E53K|ALDOA_uc010veg.1_Missense_Mutation_p.E107K|ALDOA_uc002dwd.2_Missense_Mutation_p.E53K	p.E53K	NM_184043	NP_908932	P04075	ALDOA_HUMAN			6	1285	+			53					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	ENST00000566897.1	37	c.157G>A	CCDS10668.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.877384	0.91664	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	5.67	5.67	0.87782	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	M	0.85462	2.755	0.80722	D	1	B	0.29188	0.236	B	0.33890	0.172	D	0.90643	0.4576	10	0.87932	D	0	.	18.547	0.91050	0.0:0.0:1.0:0.0	.	53	P04075	ALDOA_HUMAN	K	107;53;53;53	ENSP00000378669:E107K;ENSP00000336927:E53K;ENSP00000400452:E53K;ENSP00000378661:E53K	ENSP00000336927:E53K	E	+	1	0	ALDOA	29986316	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	9.694000	0.98686	2.676000	0.91093	0.655000	0.94253	GAG		0.607	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1		NM_000034		9	48	0	0	0	1	0	9	48		
ZNF688	146542	broad.mit.edu	37	16	30581606	30581606	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30581606G>C	ENST00000223459.6	-	3	1566	c.462C>G	c.(460-462)ccC>ccG	p.P154P	AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF688_ENST00000395219.1_Silent_p.P140P	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CAGCATTTTTGGGTGGCTGTG	0.647																																						uc002dyt.2		NaN																	0					0						c.(460-462)CCC>CCG		zinc finger protein 688 isoform a							31.0	33.0	32.0					16																	30581606		2196	4299	6495	SO:0001819	synonymous_variant	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581606G>C	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.462C>G	16.37:g.30581606G>C						ZNF688_uc002dys.2_Silent_p.P140P|uc002dyu.2_5'Flank	p.P154P	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN			3	1240	-			154					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000223459.6	37	c.462C>G	CCDS10684.1																																																																																				0.647	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2		NM_145271		9	29	0	0	0	1	0	9	29		
ZNF688	146542	broad.mit.edu	37	16	30581750	30581750	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30581750G>T	ENST00000223459.6	-	3	1422	c.318C>A	c.(316-318)gtC>gtA	p.V106V	AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF688_ENST00000395219.1_Silent_p.V92V	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCTGTTTGGGACATCTCCTG	0.488																																						uc002dyt.2		NaN																	0					0						c.(316-318)GTC>GTA		zinc finger protein 688 isoform a							53.0	54.0	54.0					16																	30581750		2197	4300	6497	SO:0001819	synonymous_variant	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581750G>T	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.318C>A	16.37:g.30581750G>T						ZNF688_uc002dys.2_Silent_p.V92V|uc002dyu.2_5'Flank	p.V106V	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN			3	1096	-			106					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000223459.6	37	c.318C>A	CCDS10684.1																																																																																				0.488	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2		NM_145271		13	57	1	0	6.53275e-17	1	7.46262e-17	13	57		
SRCAP	10847	broad.mit.edu	37	16	30732788	30732788	+	Missense_Mutation	SNP	C	C	T	rs200261271		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30732788C>T	ENST00000262518.4	+	21	3917	c.3532C>T	c.(3532-3534)Cgc>Tgc	p.R1178C	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Missense_Mutation_p.R1178C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1178	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TATGCAGGCTCGCCTGCCCTG	0.577																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(3532-3534)CGC>TGC		Snf2-related CBP activator protein		C	CYS/ARG	0,4394		0,0,2197	62.0	56.0	58.0		3532	5.3	1.0	16		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRCAP	NM_006662.2	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1178/3231	30732788	1,12993	2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732788C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3532C>T	16.37:g.30732788C>T	ENSP00000262518:p.Arg1178Cys					SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.R1035C|SRCAP_uc010bzz.1_Missense_Mutation_p.R748C	p.R1178C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3917	+			1178			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3532C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775835	0.49786	0.0	1.16E-4	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.93307	-3.2;-3.17	5.26	5.26	0.73747	.	.	.	.	.	D	0.93602	0.7957	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	D	0.93339	0.6708	9	0.72032	D	0.01	-5.8212	11.2303	0.48907	0.2839:0.7161:0.0:0.0	.	1178;1178	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	C	1178	ENSP00000262518:R1178C;ENSP00000378499:R1178C	ENSP00000262518:R1178C	R	+	1	0	SRCAP	30640289	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	1.723000	0.38053	2.735000	0.93741	0.563000	0.77884	CGC		0.577	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		8	51	0	0	0	1	0	8	51		
ZNF629	23361	broad.mit.edu	37	16	30795476	30795476	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30795476G>C	ENST00000262525.4	-	3	380	c.173C>G	c.(172-174)tCa>tGa	p.S58*		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	58					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CATCTCTGTTGAGTCCTTGGA	0.597																																						uc002dzs.1		NaN																	0					0						c.(172-174)TCA>TGA		zinc finger protein 629							29.0	28.0	28.0					16																	30795476		1837	4080	5917	SO:0001587	stop_gained	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30795476G>C	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.173C>G	16.37:g.30795476G>C	ENSP00000262525:p.Ser58*						p.S58*	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	381	-			58					Q15938	Nonsense_Mutation	SNP	ENST00000262525.4	37	c.173C>G	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846556	0.51164	.	.	ENSG00000102870	ENST00000262525	.	.	.	4.36	4.36	0.52297	.	0.320375	0.22657	N	0.057244	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	0.3349	8.6017	0.33749	0.1065:0.0:0.8935:0.0	.	.	.	.	X	58	.	ENSP00000262525:S58X	S	-	2	0	ZNF629	30702977	0.239000	0.23836	0.797000	0.32132	0.155000	0.21991	0.808000	0.27154	2.155000	0.67459	0.655000	0.94253	TCA		0.597	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1		NM_015309		4	15	0	0	0	1	0	4	15		
FBXL19	54620	broad.mit.edu	37	16	30953717	30953717	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30953717C>G	ENST00000380310.2	+	9	1705	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	FBXL19_ENST00000338343.4_Missense_Mutation_p.S496C|FBXL19_ENST00000565690.1_Missense_Mutation_p.S380C|FBXL19_ENST00000471231.2_Missense_Mutation_p.S204C|FBXL19_ENST00000562319.1_Missense_Mutation_p.S496C	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	516					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTGGTGCTCTCTGGCTGCTCC	0.662											OREG0023741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002eab.2		NaN																	0		p.E516K(1)		ovary(2)|lung(1)|breast(1)	4						c.(1546-1548)TCT>TGT		F-box and leucine-rich repeat protein 19							16.0	19.0	18.0					16																	30953717		2060	4200	6260	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30953717C>G	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1547C>G	16.37:g.30953717C>G	ENSP00000369666:p.Ser516Cys		OREG0023741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	FBXL19_uc002dzz.1_Missense_Mutation_p.S204C|FBXL19_uc002eaa.1_Missense_Mutation_p.S415C	p.S516C	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN			9	1705	+			516			LRR 1.		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.1547C>G	CCDS45465.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114570	0.56505	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.50001	0.76;0.76	4.73	4.73	0.59995	.	0.452870	0.21131	N	0.079651	T	0.49575	0.1565	M	0.67625	2.065	0.39204	D	0.9632	B;B	0.22909	0.077;0.025	B;B	0.20955	0.032;0.008	T	0.54728	-0.8250	10	0.59425	D	0.04	-9.152	16.9952	0.86365	0.0:1.0:0.0:0.0	.	516;473	Q6PCT2;Q6PCT2-2	FXL19_HUMAN;.	C	496;516	ENSP00000339712:S496C;ENSP00000369666:S516C	ENSP00000339712:S496C	S	+	2	0	FBXL19	30861218	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.787000	0.69013	2.631000	0.89168	0.655000	0.94253	TCT		0.662	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_019085		3	16	0	0	0	1	0	3	16		
TRIM72	493829	broad.mit.edu	37	16	31235662	31235662	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:31235662C>G	ENST00000322122.3	+	7	1304	c.1020C>G	c.(1018-1020)ctC>ctG	p.L340L	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						ACCAGCAGCTCTCCGAGGGCG	0.761																																						uc002ebn.1		NaN																	0					0						c.(1018-1020)CTC>CTG		tripartite motif-containing 72							10.0	10.0	10.0					16																	31235662		2177	4245	6422	SO:0001819	synonymous_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31235662C>G	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.1020C>G	16.37:g.31235662C>G						uc002ebp.1_5'Flank	p.L340L	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			7	1249	+			340			B30.2/SPRY.			Silent	SNP	ENST00000322122.3	37	c.1020C>G	CCDS32437.1																																																																																				0.761	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1		NM_001008274		5	11	0	0	0	1	0	5	11		
LONP2	83752	broad.mit.edu	37	16	48286111	48286111	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:48286111G>A	ENST00000285737.4	+	2	396	c.303G>A	c.(301-303)ttG>ttA	p.L101L	LONP2_ENST00000535754.1_Silent_p.L101L	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACACTCTGTTGATTACAGGCC	0.488																																						uc002efi.1		NaN																	0					0						c.(301-303)TTG>TTA		peroxisomal LON protease-like							84.0	72.0	76.0					16																	48286111		2200	4300	6500	SO:0001819	synonymous_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48286111G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.303G>A	16.37:g.48286111G>A						LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Silent_p.L101L	p.L101L	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			2	392	+			101			Lon.			Silent	SNP	ENST00000285737.4	37	c.303G>A	CCDS10734.1																																																																																				0.488	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2		NM_031490		7	54	0	0	0	1	0	7	54		
CHD9	80205	broad.mit.edu	37	16	53288467	53288467	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:53288467G>A	ENST00000398510.3	+	17	4066	c.3979G>A	c.(3979-3981)Gat>Aat	p.D1327N	CHD9_ENST00000566029.1_Missense_Mutation_p.D1327N|CHD9_ENST00000447540.1_Missense_Mutation_p.D1327N|CHD9_ENST00000564845.1_Missense_Mutation_p.D1327N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1327	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACTGGGCCTAGATAAAGCTGT	0.388																																						uc002ehb.2		NaN																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(3979-3981)GAT>AAT		chromodomain helicase DNA binding protein 9							248.0	243.0	244.0					16																	53288467		1877	4107	5984	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53288467G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3979G>A	16.37:g.53288467G>A	ENSP00000381522:p.Asp1327Asn					CHD9_uc002egy.2_Missense_Mutation_p.D1327N|CHD9_uc002ehc.2_Missense_Mutation_p.D1327N|CHD9_uc002ehf.2_Missense_Mutation_p.D441N|CHD9_uc002ehd.2_Missense_Mutation_p.D853N	p.D1327N	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			17	4143	+		all_cancers(37;0.0212)	1327			Helicase C-terminal.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.3979G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.661588	0.96734	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.75821	-0.97;-0.97	5.39	5.39	0.77823	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000014	D	0.83949	0.5365	L	0.48986	1.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.993;0.996	D;D;D;D	0.97110	0.994;1.0;0.984;0.993	D	0.85234	0.1034	10	0.87932	D	0	-20.392	19.1442	0.93458	0.0:0.0:1.0:0.0	.	853;1327;1327;1327	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	N	1327;1327;853	ENSP00000396345:D1327N;ENSP00000381522:D1327N	ENSP00000219084:D853N	D	+	1	0	CHD9	51845968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.533000	0.85409	0.585000	0.79938	GAT		0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134		34	258	0	0	0	1	0	34	258		
GPR114	221188	broad.mit.edu	37	16	57608778	57608778	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:57608778C>T	ENST00000340339.4	+	11	1783	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	GPR114_ENST00000349457.3_Silent_p.G420G|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	420					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TGGGCTACGGCGGCCTCACGT	0.701																																						uc002elx.3		NaN																	0				central_nervous_system(1)	1						c.(1258-1260)GGC>GGT		G protein-coupled receptor 114 precursor							72.0	60.0	64.0					16																	57608778		2198	4299	6497	SO:0001819	synonymous_variant	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57608778C>T	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1260C>T	16.37:g.57608778C>T						GPR114_uc010vhr.1_Missense_Mutation_p.A381V|GPR114_uc002ely.2_Silent_p.G420G	p.G420G	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			11	1345	+			420			Helical; Name=5; (Potential).		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	ENST00000340339.4	37	c.1260C>T	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	c	10.15	1.271943	0.23221	.	.	ENSG00000159618	ENST00000394361	.	.	.	5.41	-4.32	0.03688	.	.	.	.	.	T	0.21267	0.0512	.	.	.	0.34199	D	0.672919	P	0.38300	0.626	B	0.31390	0.129	T	0.32903	-0.9889	7	0.72032	D	0.01	.	0.9519	0.01378	0.1433:0.2465:0.2146:0.3956	.	381	B4E148	.	V	381	.	ENSP00000377888:A381V	A	+	2	0	GPR114	56166279	0.000000	0.05858	0.847000	0.33407	0.904000	0.53231	-2.017000	0.01445	-0.557000	0.06126	-0.458000	0.05436	GCG		0.701	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3		NM_153837		8	57	0	0	0	1	0	8	57		
KATNB1	10300	broad.mit.edu	37	16	57787356	57787356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:57787356G>A	ENST00000379661.3	+	12	1494	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GGATGACCGGGACGAGCGCGA	0.667																																						uc002eml.1		NaN																	0					0						c.(1102-1104)GAC>AAC		katanin p80 subunit B 1							40.0	47.0	44.0					16																	57787356		2197	4298	6495	SO:0001583	missense	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57787356G>A	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1102G>A	16.37:g.57787356G>A	ENSP00000368982:p.Asp368Asn						p.D368N	NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN			12	1476	+		all_neural(199;0.223)	368			Interaction with PAFAH1B1 (By similarity).			Missense_Mutation	SNP	ENST00000379661.3	37	c.1102G>A	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009611	0.75046	.	.	ENSG00000140854	ENST00000379661	T	0.54675	0.56	5.19	4.22	0.49857	.	0.113194	0.64402	D	0.000016	T	0.49609	0.1567	L	0.59436	1.845	0.52501	D	0.999951	P	0.37525	0.598	B	0.37346	0.247	T	0.47636	-0.9102	10	0.33940	T	0.23	1.6719	14.0407	0.64674	0.0:0.0:0.8478:0.1522	.	368	Q9BVA0	KTNB1_HUMAN	N	368	ENSP00000368982:D368N	ENSP00000368982:D368N	D	+	1	0	KATNB1	56344857	1.000000	0.71417	0.983000	0.44433	0.665000	0.39181	9.869000	0.99810	1.148000	0.42385	0.591000	0.81541	GAC		0.667	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3				21	42	0	0	0	1	0	21	42		
CNOT1	23019	broad.mit.edu	37	16	58592477	58592477	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58592477G>C	ENST00000317147.5	-	18	2564	c.2232C>G	c.(2230-2232)ttC>ttG	p.F744L	CNOT1_ENST00000569732.1_5'UTR|SNORA50_ENST00000384225.2_RNA|CNOT1_ENST00000441024.2_Missense_Mutation_p.F744L|CNOT1_ENST00000569240.1_Missense_Mutation_p.F744L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	744					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAGGGGTACTGAATGCAGAAC	0.493																																						uc002env.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(2230-2232)TTC>TTG		CCR4-NOT transcription complex, subunit 1							100.0	94.0	96.0					16																	58592477		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58592477G>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2232C>G	16.37:g.58592477G>C	ENSP00000320949:p.Phe744Leu					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.F744L|CNOT1_uc002enx.2_Missense_Mutation_p.F744L|CNOT1_uc002enz.1_Missense_Mutation_p.F173L	p.F744L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	18	2525	-			744					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.2232C>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108667	0.37242	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.16457	2.34;2.34	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	N	0.16368	0.405	0.80722	D	1	P;B;B	0.52577	0.954;0.0;0.001	D;B;B	0.66351	0.943;0.0;0.001	T	0.02958	-1.1089	10	0.23302	T	0.38	.	13.1596	0.59537	0.0732:0.0:0.9268:0.0	.	744;744;744	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	L	744;173;744;744	ENSP00000320949:F744L;ENSP00000413113:F744L	ENSP00000320949:F744L	F	-	3	2	CNOT1	57149978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.772000	0.62324	2.776000	0.95493	0.655000	0.94253	TTC		0.493	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284		10	54	0	0	0	1	0	10	54		
CNOT1	23019	broad.mit.edu	37	16	58608559	58608559	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58608559G>T	ENST00000317147.5	-	16	2265	c.1933C>A	c.(1933-1935)Cca>Aca	p.P645T	CNOT1_ENST00000441024.2_Missense_Mutation_p.P645T|CNOT1_ENST00000569240.1_Missense_Mutation_p.P645T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	645					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAAGTTTCTGGAGGAAGTTGA	0.408																																						uc002env.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(1933-1935)CCA>ACA		CCR4-NOT transcription complex, subunit 1							118.0	107.0	111.0					16																	58608559		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58608559G>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1933C>A	16.37:g.58608559G>T	ENSP00000320949:p.Pro645Thr					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P645T|CNOT1_uc002enx.2_Missense_Mutation_p.P645T|CNOT1_uc002enz.1_Missense_Mutation_p.P74T	p.P645T	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	16	2226	-			645					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1933C>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708793	0.48517	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.17213	2.29;2.29	5.19	4.21	0.49690	.	0.053140	0.85682	D	0.000000	T	0.34077	0.0885	L	0.46157	1.445	0.80722	D	1	D;B;P	0.76494	0.999;0.329;0.458	D;B;B	0.80764	0.994;0.095;0.137	T	0.02588	-1.1137	9	.	.	.	.	15.311	0.74031	0.0:0.1455:0.8544:0.0	.	645;645;645	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	T	645;74;645;645	ENSP00000320949:P645T;ENSP00000413113:P645T	.	P	-	1	0	CNOT1	57166060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.689000	0.74562	1.141000	0.42275	0.462000	0.41574	CCA		0.408	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284		15	115	1	0	2.32078e-09	1	2.5472e-09	15	115		
CNOT1	23019	broad.mit.edu	37	16	58608568	58608568	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58608568G>C	ENST00000317147.5	-	16	2256	c.1924C>G	c.(1924-1926)Caa>Gaa	p.Q642E	CNOT1_ENST00000441024.2_Missense_Mutation_p.Q642E|CNOT1_ENST00000569240.1_Missense_Mutation_p.Q642E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	642					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGAGGAAGTTGAGCACTTTTG	0.433																																						uc002env.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(1924-1926)CAA>GAA		CCR4-NOT transcription complex, subunit 1							114.0	104.0	107.0					16																	58608568		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58608568G>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1924C>G	16.37:g.58608568G>C	ENSP00000320949:p.Gln642Glu					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.Q642E|CNOT1_uc002enx.2_Missense_Mutation_p.Q642E|CNOT1_uc002enz.1_Missense_Mutation_p.Q71E	p.Q642E	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	16	2217	-			642					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1924C>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666901	0.88251	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.18810	2.19;2.19	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.68593	2.085	0.80722	D	1	P;P;P	0.49090	0.811;0.919;0.902	P;B;P	0.57960	0.83;0.3;0.496	T	0.14615	-1.0466	9	.	.	.	.	18.7124	0.91662	0.0:0.0:1.0:0.0	.	642;642;642	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	E	642;71;642;642	ENSP00000320949:Q642E;ENSP00000413113:Q642E	.	Q	-	1	0	CNOT1	57166069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.425000	0.82216	0.462000	0.41574	CAA		0.433	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284		14	108	0	0	0	1	0	14	108		
TRADD	8717	broad.mit.edu	37	16	67190499	67190499	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67190499G>A	ENST00000345057.4	-	2	533	c.65C>T	c.(64-66)tCg>tTg	p.S22L	TRADD_ENST00000486556.1_5'Flank|TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	22					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTTGTCCAGCGAGGACTCCAC	0.617											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002eri.1		NaN																	0				lung(1)	1						c.(64-66)TCG>TTG		TNFRSF1A-associated via death domain							195.0	149.0	165.0					16																	67190499		2198	4300	6498	SO:0001583	missense	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67190499G>A	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.65C>T	16.37:g.67190499G>A	ENSP00000341268:p.Ser22Leu		OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	TRADD_uc002erh.1_5'Flank|TRADD_uc010vjb.1_Missense_Mutation_p.S22L	p.S22L	NM_003789	NP_003780	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	2	145	-		Ovarian(137;0.0563)	22					B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	37	c.65C>T	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188867	0.38707	.	.	ENSG00000102871	ENST00000345057	.	.	.	4.63	1.21	0.21127	TRADD, N-terminal (3);	0.877090	0.10053	N	0.721995	T	0.27063	0.0663	L	0.28274	0.84	0.09310	N	1	B;B	0.17465	0.022;0.003	B;B	0.08055	0.003;0.001	T	0.20806	-1.0264	9	0.37606	T	0.19	-1.4383	6.0035	0.19533	0.3897:0.0:0.6103:0.0	.	22;22	B4DWM0;Q15628	.;TRADD_HUMAN	L	22	.	ENSP00000341268:S22L	S	-	2	0	TRADD	65748000	0.002000	0.14202	0.019000	0.16419	0.981000	0.71138	1.144000	0.31565	0.090000	0.17273	0.462000	0.41574	TCG		0.617	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2				22	136	0	0	0	1	0	22	136		
HSF4	3299	broad.mit.edu	37	16	67201421	67201421	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67201421G>A	ENST00000521374.1	+	8	773	c.773G>A	c.(772-774)aGg>aAg	p.R258K	HSF4_ENST00000584272.1_Missense_Mutation_p.G263R|HSF4_ENST00000421453.1_Missense_Mutation_p.G263R|NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000264009.8_Missense_Mutation_p.R258K			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	258	Interactions with DUSP26, MAPK1 and MAPK2.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CACAGGGCCAGGGGCCCCATC	0.607																																						uc002erl.1		NaN																	0					0						c.(772-774)AGG>AAG		heat shock transcription factor 4 isoform b							83.0	87.0	86.0					16																	67201421		1887	4101	5988	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67201421G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.773G>A	16.37:g.67201421G>A	ENSP00000430947:p.Arg258Lys					HSF4_uc002erm.1_Missense_Mutation_p.G263R|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_Intron	p.R258K	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	10	1738	+		Ovarian(137;0.0563)	258			Interactions with DUSP26, MAPK1 and MAPK2.		Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.773G>A	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.285005|2.285005	0.40394|0.40394	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000421453|ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517750	.|.	.|.	.|.	4.58|4.58	3.6|3.6	0.41247|0.41247	.|.	.|0.286651	.|0.34828	.|N	.|0.003659	T|T	0.23410|0.23410	0.0566|0.0566	N|N	0.25647|0.25647	0.755|0.755	0.18873|0.18873	N|N	0.999986|0.999986	P|B	0.41188|0.06786	0.741|0.001	B|B	0.35312|0.04013	0.2|0.001	T|T	0.19128|0.19128	-1.0315|-1.0315	8|9	0.10902|0.06625	T|T	0.67|0.88	-15.6882|-15.6882	8.8037|8.8037	0.34925|0.34925	0.1064:0.0:0.8936:0.0|0.1064:0.0:0.8936:0.0	.|.	263|258	Q9ULV5-2|Q9ULV5	.|HSF4_HUMAN	R|K	263|258;258;258;77	.|.	ENSP00000408815:G263R|ENSP00000264009:R258K	G|R	+|+	1|2	0|0	HSF4|HSF4	65758922|65758922	0.970000|0.970000	0.33590|0.33590	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	1.279000|1.279000	0.33191|0.33191	2.367000|2.367000	0.80283|0.80283	0.462000|0.462000	0.41574|0.41574	GGG|AGG		0.607	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1		NM_001538		38	98	0	0	0	1	0	38	98		
FHOD1	29109	broad.mit.edu	37	16	67265987	67265987	+	Silent	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67265987A>C	ENST00000258201.4	-	14	2404	c.2157T>G	c.(2155-2157)gcT>gcG	p.A719A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	719	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Interaction with ROCK1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGTTGAGCAGAGCAGCCTTAA	0.567																																						uc002esl.2		NaN																	0				breast(2)|ovary(1)	3						c.(2155-2157)GCT>GCG		formin homology 2 domain containing 1							167.0	120.0	136.0					16																	67265987		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67265987A>C	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2157T>G	16.37:g.67265987A>C						FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Silent_p.A526A	p.A719A	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	14	2269	-		Ovarian(137;0.0563)	719			Interaction with ROCK1.|FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.2157T>G	CCDS10834.1																																																																																				0.567	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2				4	49	0	0	0	1	0	4	49		
KCTD19	146212	broad.mit.edu	37	16	67327463	67327463	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67327463C>T	ENST00000304372.5	-	12	2257	c.2202G>A	c.(2200-2202)caG>caA	p.Q734Q		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	734					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTTGGTCCTCTGCTTGCTCC	0.532																																						uc002esu.2		NaN																	0				skin(1)	1						c.(2200-2202)CAG>CAA		potassium channel tetramerisation domain							106.0	110.0	109.0					16																	67327463		2014	4181	6195	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327463C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2202G>A	16.37:g.67327463C>T						KCTD19_uc002est.2_Silent_p.Q506Q|KCTD19_uc010vjj.1_Silent_p.Q477Q	p.Q734Q	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2253	-		Ovarian(137;0.192)	734					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.2202G>A	CCDS42179.1																																																																																				0.532	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1		XM_085367		36	113	0	0	0	1	0	36	113		
CTCF	10664	broad.mit.edu	37	16	67671650	67671650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67671650G>T	ENST00000264010.4	+	12	2503	c.2059G>T	c.(2059-2061)Gaa>Taa	p.E687*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.E359*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	687					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CATTATAGTTGAAGTAAAAAA	0.498																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NaN																	0				ovary(1)	1						c.(2059-2061)GAA>TAA		CCCTC-binding factor							65.0	67.0	66.0					16																	67671650		2198	4300	6498	SO:0001587	stop_gained	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67671650G>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.2059G>T	16.37:g.67671650G>T	ENSP00000264010:p.Glu687*					CTCF_uc010cek.2_Nonsense_Mutation_p.E359*|CTCF_uc002etm.1_Nonsense_Mutation_p.E174*	p.E687*	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	12	2349	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	687					B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	ENST00000264010.4	37	c.2059G>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	37	6.616952	0.97709	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	.	.	.	5.92	5.92	0.95590	.	0.080726	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-4.0223	15.7636	0.78106	0.0:0.1356:0.8644:0.0	.	.	.	.	X	687;359	.	ENSP00000264010:E687X	E	+	1	0	CTCF	66229151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.244000	0.65400	2.804000	0.96469	0.655000	0.94253	GAA		0.498	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2		NM_006565		8	66	1	0	1.26484e-09	1	1.39432e-09	8	66		
HAS3	3038	broad.mit.edu	37	16	69143703	69143703	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69143703C>T	ENST00000306560.1	+	2	561	c.405C>T	c.(403-405)atC>atT	p.I135I	HAS3_ENST00000219322.3_Silent_p.I135I|HAS3_ENST00000569188.1_Silent_p.I135I	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	135					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCTGGACATCTTCCACGAGG	0.652																																						uc010cfh.2		NaN																	0					0						c.(403-405)ATC>ATT		hyaluronan synthase 3 isoform a							74.0	65.0	68.0					16																	69143703		2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143703C>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.405C>T	16.37:g.69143703C>T						HAS3_uc002ewk.2_Silent_p.I135I|HAS3_uc010vlk.1_Silent_p.I135I|HAS3_uc002ewl.2_Silent_p.I135I	p.I135I	NM_005329	NP_005320	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	629	+		Ovarian(137;0.101)	135			Cytoplasmic (Potential).		A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.405C>T	CCDS10871.1																																																																																				0.652	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2		NM_138612		22	48	0	0	0	1	0	22	48		
HAS3	3038	broad.mit.edu	37	16	69143910	69143910	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69143910C>G	ENST00000306560.1	+	2	768	c.612C>G	c.(610-612)ctC>ctG	p.L204L	HAS3_ENST00000219322.3_Silent_p.L204L|HAS3_ENST00000569188.1_Silent_p.L204L	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	204					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCAAGGCCCTCGGCGATTCGG	0.602																																						uc010cfh.2		NaN																	0					0						c.(610-612)CTC>CTG		hyaluronan synthase 3 isoform a							69.0	57.0	61.0					16																	69143910		2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143910C>G	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.612C>G	16.37:g.69143910C>G						HAS3_uc002ewk.2_Silent_p.L204L|HAS3_uc010vlk.1_Silent_p.L204L|HAS3_uc002ewl.2_Silent_p.L204L	p.L204L	NM_005329	NP_005320	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	836	+		Ovarian(137;0.101)	204			Cytoplasmic (Potential).		A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.612C>G	CCDS10871.1																																																																																				0.602	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2		NM_138612		16	27	0	0	0	1	0	16	27		
VPS4A	27183	broad.mit.edu	37	16	69354143	69354143	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69354143G>C	ENST00000254950.11	+	7	876	c.720G>C	c.(718-720)gaG>gaC	p.E240D	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.E264D|COG8_ENST00000564419.1_5'UTR	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ATGAAAATGAGAGTGAGGCCG	0.582																																						uc002eww.2		NaN																	0					0						c.(718-720)GAG>GAC		vacuolar protein sorting factor 4A							54.0	62.0	59.0					16																	69354143		1882	4115	5997	SO:0001583	missense	27183				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding	g.chr16:69354143G>C	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.720G>C	16.37:g.69354143G>C	ENSP00000254950:p.Glu240Asp						p.E240D	NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN			7	848	+		Ovarian(137;0.101)	240						Missense_Mutation	SNP	ENST00000254950.11	37	c.720G>C	CCDS45517.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054903	0.93793	.	.	ENSG00000132612	ENST00000254950	D	0.92752	-3.1	6.07	5.11	0.69529	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.92496	0.7617	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.92238	0.5798	10	0.48119	T	0.1	-37.9513	15.3372	0.74266	0.0681:0.0:0.9319:0.0	.	240	Q9UN37	VPS4A_HUMAN	D	240	ENSP00000254950:E240D	ENSP00000254950:E240D	E	+	3	2	VPS4A	67911644	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.935000	0.48963	2.884000	0.98904	0.655000	0.94253	GAG		0.582	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3		NM_013245		9	33	0	0	0	1	0	9	33		
DDX19B	11269	broad.mit.edu	37	16	70363869	70363869	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70363869C>T	ENST00000288071.6	+	9	1166	c.921C>T	c.(919-921)atC>atT	p.I307I	RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563392.1_Silent_p.I198I|DDX19B_ENST00000563206.1_Silent_p.I312I|DDX19B_ENST00000568625.1_Silent_p.I198I|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000451014.3_Silent_p.I281I|DDX19B_ENST00000393657.2_Silent_p.I198I|DDX19B_ENST00000355992.3_Silent_p.I276I	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	307	C-terminal lobe.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TGGACACCATCAAGCAGTACT	0.527																																					Esophageal Squamous(26;382 757 1343 9728 15939)	uc002eyo.2		NaN																	0				kidney(1)	1						c.(919-921)ATC>ATT		DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform							210.0	173.0	186.0					16																	70363869		2198	4300	6498	SO:0001819	synonymous_variant	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70363869C>T	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.921C>T	16.37:g.70363869C>T						DDX19B_uc010vly.1_Silent_p.I307I|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Silent_p.I281I|DDX19B_uc010vlw.1_Silent_p.I198I|DDX19B_uc002eyp.2_Silent_p.I276I|DDX19B_uc002eyq.2_Silent_p.I198I|DDX19B_uc002eyr.2_Silent_p.I156I|DDX19B_uc010vlx.1_Silent_p.I156I|uc002eyt.2_Intron	p.I307I	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN			9	1050	+		Ovarian(137;0.0694)	307			Helicase C-terminal.		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Silent	SNP	ENST00000288071.6	37	c.921C>T	CCDS10888.1																																																																																				0.527	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3		NM_007242		29	162	0	0	0	1	0	29	162		
HYDIN	54768	broad.mit.edu	37	16	70843817	70843817	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70843817C>T	ENST00000393567.2	-	85	14902	c.14752G>A	c.(14752-14754)Gag>Aag	p.E4918K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4918					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGATAGAGCTCATATTGGTAG	0.468																																						uc002ezr.2		NaN																	0				ovary(1)|skin(1)	2						c.(14749-14751)GAG>AAG		hydrocephalus inducing isoform a							368.0	374.0	372.0					16																	70843817		1964	4151	6115	SO:0001583	missense	54768							g.chr16:70843817C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14752G>A	16.37:g.70843817C>T	ENSP00000377197:p.Glu4918Lys					HYDIN_uc010cfy.2_RNA	p.E4917K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			85	14877	-		Ovarian(137;0.0654)	4918					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.14749G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476113	0.84640	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00940	5.52	5.81	5.81	0.92471	.	0.000000	0.31797	U	0.007056	T	0.02304	0.0071	M	0.64997	1.995	0.80722	D	1	B	0.27765	0.188	B	0.33750	0.169	T	0.61758	-0.6997	10	0.33940	T	0.23	.	19.6776	0.95943	0.0:1.0:0.0:0.0	.	4917	F8WD23	.	K	4918;4917	ENSP00000377197:E4918K	ENSP00000313052:E4917K	E	-	1	0	HYDIN	69401318	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.645000	0.54389	2.746000	0.94184	0.655000	0.94253	GAG		0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				131	352	0	0	0	1	0	131	352		
HYDIN	54768	broad.mit.edu	37	16	70843871	70843871	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70843871C>T	ENST00000393567.2	-	85	14848	c.14698G>A	c.(14698-14700)Gaa>Aaa	p.E4900K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4900					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCGAAGGTTTCTCCAGCTTTC	0.473																																						uc002ezr.2		NaN																	0				ovary(1)|skin(1)	2						c.(14695-14697)GAA>AAA		hydrocephalus inducing isoform a							265.0	271.0	269.0					16																	70843871		1940	4137	6077	SO:0001583	missense	54768							g.chr16:70843871C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14698G>A	16.37:g.70843871C>T	ENSP00000377197:p.Glu4900Lys					HYDIN_uc010cfy.2_RNA	p.E4899K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			85	14823	-		Ovarian(137;0.0654)	4900					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.14695G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559938	0.86335	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01034	5.42	6.08	6.08	0.98989	.	0.000000	0.31797	U	0.007056	T	0.03220	0.0094	M	0.75447	2.3	0.42137	D	0.991497	B	0.30870	0.298	B	0.39771	0.309	T	0.54642	-0.8263	10	0.37606	T	0.19	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	4899	F8WD23	.	K	4900;4899	ENSP00000377197:E4900K	ENSP00000313052:E4899K	E	-	1	0	HYDIN	69401372	1.000000	0.71417	0.995000	0.50966	0.925000	0.55904	5.598000	0.67585	2.894000	0.99253	0.655000	0.94253	GAA		0.473	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				118	287	0	0	0	1	0	118	287		
PHLPP2	23035	broad.mit.edu	37	16	71748679	71748679	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:71748679C>A	ENST00000568954.1	-	2	398	c.20G>T	c.(19-21)aGa>aTa	p.R7I	PHLPP2_ENST00000393524.2_Missense_Mutation_p.R7I|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R7I|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R42I|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R7I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	7					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CAAACAATTTCTGCTCCCATT	0.393																																						uc002fax.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(19-21)AGA>ATA		PH domain and leucine rich repeat protein							98.0	82.0	88.0					16																	71748679		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71748679C>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.20G>T	16.37:g.71748679C>A	ENSP00000457991:p.Arg7Ile					PHLPP2_uc010cgf.2_Missense_Mutation_p.R7I|PHLPP2_uc002fay.1_Missense_Mutation_p.R7I	p.R7I	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			1	26	-			7					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.20G>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911590	0.92178	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.54071	0.98;1.0;0.59	5.67	5.67	0.87782	.	0.086700	0.64402	D	0.000003	T	0.69378	0.3104	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.70676	-0.4806	10	0.87932	D	0	-14.6374	18.7517	0.91818	0.0:1.0:0.0:0.0	.	7;7	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	I	7	ENSP00000353610:R7I;ENSP00000348611:R7I;ENSP00000377159:R7I	ENSP00000348611:R7I	R	-	2	0	PHLPP2	70306180	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	4.082000	0.57635	2.669000	0.90835	0.655000	0.94253	AGA		0.393	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1		NM_015020		21	40	1	0	2.39556e-15	1	2.72666e-15	21	40		
PMFBP1	83449	broad.mit.edu	37	16	72174473	72174473	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:72174473C>T	ENST00000237353.10	-	6	906	c.645G>A	c.(643-645)gaG>gaA	p.E215E	PMFBP1_ENST00000537465.1_Silent_p.E215E|PMFBP1_ENST00000355636.6_Silent_p.E70E	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	215						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CACCCTTGTTCTCAGGCTCCT	0.388																																						uc002fcc.3		NaN																	0				ovary(2)	2						c.(643-645)GAG>GAA		polyamine modulated factor 1 binding protein 1							126.0	122.0	123.0					16																	72174473		2198	4300	6498	SO:0001819	synonymous_variant	83449							g.chr16:72174473C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.645G>A	16.37:g.72174473C>T						PMFBP1_uc002fcd.2_Silent_p.E215E|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.E70E	p.E215E	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			6	817	-		Ovarian(137;0.179)	215					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	c.645G>A	CCDS32483.1																																																																																				0.388	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2		NM_031293		28	141	0	0	0	1	0	28	141		
KCNG4	93107	broad.mit.edu	37	16	84270993	84270993	+	Silent	SNP	C	C	T	rs374330675		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:84270993C>T	ENST00000308251.4	-	2	167	c.99G>A	c.(97-99)acG>acA	p.T33T	KCNG4_ENST00000568181.1_Silent_p.T33T	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	33					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGATGGACGGCGTCTCCATGG	0.627																																						uc010voc.1		NaN																	0				breast(3)	3						c.(97-99)ACG>ACA		potassium voltage-gated channel, subfamily G,		T		1,4399	2.1+/-5.4	0,1,2199	39.0	42.0	41.0		99	-9.9	0.0	16		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNG4	NM_172347.2		0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154		33/520	84270993	2,12998	2200	4300	6500	SO:0001819	synonymous_variant	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270993C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.99G>A	16.37:g.84270993C>T						KCNG4_uc002fhu.1_Silent_p.T33T	p.T33T	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	220	-			33			Cytoplasmic (Potential).		Q96H24	Silent	SNP	ENST00000308251.4	37	c.99G>A	CCDS10945.1																																																																																				0.627	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2		NM_172347		11	54	0	0	0	1	0	11	54		
GSE1	23199	broad.mit.edu	37	16	85691040	85691040	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:85691040C>A	ENST00000253458.7	+	8	1646	c.1470C>A	c.(1468-1470)cgC>cgA	p.R490R	RN7SL381P_ENST00000577658.1_RNA|GSE1_ENST00000405402.2_Silent_p.R386R|GSE1_ENST00000393243.1_Silent_p.R417R	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	490																	TGATCCAGCGCACCAATGAGG	0.662																																						uc002fix.2		NaN																	0				large_intestine(3)|ovary(1)|skin(1)	5						c.(1468-1470)CGC>CGA		genetic suppressor element 1 isoform 1							41.0	37.0	39.0					16																	85691040		2195	4299	6494	SO:0001819	synonymous_variant	23199						protein binding	g.chr16:85691040C>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1470C>A	16.37:g.85691040C>A						KIAA0182_uc002fiw.2_Silent_p.R386R|KIAA0182_uc002fiy.2_Silent_p.R417R	p.R490R	NM_014615	NP_055430	Q14687	GSE1_HUMAN			8	1544	+			490					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.1470C>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288489	0.23478	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.07	4.05	0.47172	.	.	.	.	.	T	0.68357	0.2992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67300	-0.5705	4	.	.	.	-33.0502	13.6265	0.62168	0.0:0.7133:0.2867:0.0	.	.	.	.	E	297	.	.	A	+	2	0	KIAA0182	84248541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.081000	0.30791	2.367000	0.80283	0.561000	0.74099	GCA		0.662	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1		NM_014615		5	35	1	0	0.184627	1	0.184921	5	35		
ANKRD11	29123	broad.mit.edu	37	16	89346347	89346347	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89346347T>C	ENST00000301030.4	-	9	7063	c.6603A>G	c.(6601-6603)gcA>gcG	p.A2201A	ANKRD11_ENST00000378330.2_Silent_p.A2201A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2201	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCTCGAGCTCTGCAGGGAGCC	0.687																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(6601-6603)GCA>GCG		ankyrin repeat domain 11							13.0	16.0	15.0					16																	89346347		2124	4177	6301	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89346347T>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6603A>G	16.37:g.89346347T>C						ANKRD11_uc002fmy.1_Silent_p.A2201A|ANKRD11_uc002fnc.1_Silent_p.A2201A|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.A2158A	p.A2201A	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	7064	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2201			Pro-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.6603A>G	CCDS32513.1																																																																																				0.687	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		4	19	0	0	0	1	0	4	19		
ZNF276	92822	broad.mit.edu	37	16	89789204	89789204	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89789204C>T	ENST00000443381.2	+	2	568	c.471C>T	c.(469-471)gtC>gtT	p.V157V	ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000289816.5_Silent_p.V82V|ZNF276_ENST00000568064.1_Silent_p.V82V|VPS9D1_ENST00000389386.3_5'Flank	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGCAGAGGGTCAACGCCTCCC	0.597																																						uc002fos.3		NaN																	0					0						c.(469-471)GTC>GTT		zinc finger protein 276 isoform a							65.0	62.0	63.0					16																	89789204		2198	4300	6498	SO:0001819	synonymous_variant	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789204C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.471C>T	16.37:g.89789204C>T						C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Silent_p.V82V|ZNF276_uc002foq.3_Silent_p.V82V|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	p.V157V	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	568	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	157					Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	c.471C>T	CCDS45554.1																																																																																				0.597	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1		NM_152287		16	92	0	0	0	1	0	16	92		
SPIRE2	84501	broad.mit.edu	37	16	89922055	89922055	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89922055C>T	ENST00000378247.3	+	6	982	c.939C>T	c.(937-939)ctC>ctT	p.L313L	SPIRE2_ENST00000393062.2_Silent_p.L313L	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	313					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CTCACGAGCTCATCCTGGACT	0.667																																						uc002foz.1		NaN																	0				central_nervous_system(1)	1						c.(937-939)CTC>CTT		spire homolog 2							86.0	64.0	72.0					16																	89922055		2195	4300	6495	SO:0001819	synonymous_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89922055C>T	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.939C>T	16.37:g.89922055C>T						SPIRE2_uc010civ.1_Silent_p.L228L|SPIRE2_uc010ciw.1_Silent_p.L313L|SPIRE2_uc002fpa.1_Silent_p.L265L|SPIRE2_uc010cix.1_Silent_p.L180L	p.L313L	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	6	991	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	313					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	37	c.939C>T	CCDS32516.1																																																																																				0.667	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1		XM_047462		17	39	0	0	0	1	0	17	39		
TUBB3	10381	broad.mit.edu	37	16	90001759	90001759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:90001759G>A	ENST00000315491.7	+	4	1023	c.900G>A	c.(898-900)atG>atA	p.M300I	TUBB3_ENST00000304984.5_Missense_Mutation_p.M228I|TUBB3_ENST00000554444.1_Missense_Mutation_p.M228I|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.M647I	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	300					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	AGAACATGATGGCCGCCTGCG	0.692																																						uc002fph.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(898-900)ATG>ATA		tubulin, beta, 4							67.0	70.0	69.0					16																	90001759		2197	4298	6495	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001759G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.900G>A	16.37:g.90001759G>A	ENSP00000320295:p.Met300Ile					TUBB3_uc002fpf.2_Missense_Mutation_p.M647I|TUBB3_uc010ciz.1_Missense_Mutation_p.M228I|TUBB3_uc002fpg.1_Missense_Mutation_p.M154I|TUBB3_uc002fpi.1_Missense_Mutation_p.M228I|TUBB3_uc002fpj.1_Missense_Mutation_p.M228I|TUBB3_uc010cjb.1_Missense_Mutation_p.M154I|TUBB3_uc002fpk.1_Missense_Mutation_p.M154I	p.M300I	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	4	965	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	300					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.900G>A	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474642	0.63737	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	4.6	4.6	0.57074	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.94827	0.8329	H	0.98701	4.305	0.58432	D	0.999994	P;D	0.53885	0.509;0.963	P;P	0.56514	0.681;0.8	D	0.97271	0.9911	9	.	.	.	.	17.3629	0.87356	0.0:0.0:1.0:0.0	.	300;300	Q13509;B2RBD5	TBB3_HUMAN;.	I	647;300;228;228;300	ENSP00000451560:M647I;ENSP00000302777:M228I;ENSP00000451617:M228I;ENSP00000320295:M300I	.	M	+	3	0	RP11-566K11.2;TUBB3	88529260	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.640000	0.98453	2.278000	0.76064	0.511000	0.50034	ATG		0.692	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1		NM_006086		38	119	0	0	0	1	0	38	119		
PRDM7	11105	broad.mit.edu	37	16	90142264	90142264	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:90142264C>T	ENST00000449207.2	-	1	74	c.55G>A	c.(55-57)Gag>Aag	p.E19K	PRDM7_ENST00000569206.1_Intron|PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	19					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGCTTCCGCTCTGTTCTCTCT	0.592																																						uc010cje.2		NaN																	0				ovary(1)	1						c.(55-57)GAG>AAG		PR domain containing 7 isoform 1							68.0	74.0	72.0					16																	90142264		1934	4136	6070	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90142264C>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.55G>A	16.37:g.90142264C>T	ENSP00000396732:p.Glu19Lys					PRDM7_uc010cjf.2_5'UTR|PRDM7_uc010cjh.1_RNA	p.E19K	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	1	75	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	19					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.55G>A	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	9.874	1.199788	0.22121	.	.	ENSG00000126856	ENST00000449207;ENST00000414728	T	0.12039	2.72	1.39	0.287	0.15714	Krueppel-associated box (1);	.	.	.	.	T	0.09598	0.0236	L	0.45137	1.4	0.09310	N	1	B	0.34372	0.451	B	0.30179	0.112	T	0.28554	-1.0040	8	.	.	.	.	5.2357	0.15445	0.0:0.6278:0.3722:0.0	.	19	Q9NQW5	PRDM7_HUMAN	K	19	ENSP00000396732:E19K	.	E	-	1	0	PRDM7	88669765	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.276000	0.18716	0.123000	0.18342	0.485000	0.47835	GAG		0.592	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1				8	27	0	0	0	1	0	8	27		
TUSC5	286753	broad.mit.edu	37	17	1183494	1183494	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:1183494G>C	ENST00000333813.3	+	1	538	c.199G>C	c.(199-201)Gag>Cag	p.E67Q		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	67					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCATCTCCGAGGGGCACCT	0.632																																						uc002fsi.1		NaN																	0				skin(2)	2						c.(199-201)GAG>CAG		LOST1							47.0	53.0	51.0					17																	1183494		1920	4134	6054	SO:0001583	missense	286753				response to biotic stimulus	integral to membrane		g.chr17:1183494G>C	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.199G>C	17.37:g.1183494G>C	ENSP00000329548:p.Glu67Gln						p.E67Q	NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	538	+			67					A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	c.199G>C	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073062	0.76415	.	.	ENSG00000184811	ENST00000333813	T	0.71103	-0.54	5.38	5.38	0.77491	.	0.167443	0.34603	U	0.003835	T	0.73923	0.3649	M	0.65975	2.015	0.39504	D	0.968258	D	0.61697	0.99	P	0.49361	0.608	T	0.71695	-0.4515	10	0.13470	T	0.59	-23.0619	17.7493	0.88429	0.0:0.0:1.0:0.0	.	67	Q8IXB3	TUSC5_HUMAN	Q	67	ENSP00000329548:E67Q	ENSP00000329548:E67Q	E	+	1	0	TUSC5	1130244	1.000000	0.71417	0.609000	0.28983	0.633000	0.38033	5.078000	0.64425	2.558000	0.86282	0.537000	0.68136	GAG		0.632	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1		NM_172367		16	43	0	0	0	1	0	16	43		
MYO1C	4641	broad.mit.edu	37	17	1374391	1374391	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:1374391G>A	ENST00000575158.1	-	21	2257	c.2081C>T	c.(2080-2082)gCc>gTc	p.A694V	MYO1C_ENST00000361007.2_Missense_Mutation_p.A694V|MYO1C_ENST00000545534.2_Missense_Mutation_p.A705V|MYO1C_ENST00000438665.2_Missense_Mutation_p.A710V|MYO1C_ENST00000359786.5_Missense_Mutation_p.A729V			Q12965	MYO1E_HUMAN	myosin IC	690					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACCTCCAGGGCATCCTCTGT	0.632																																						uc002fsp.2		NaN																	0					0						c.(2185-2187)GCC>GTC		myosin IC isoform a							78.0	71.0	73.0					17																	1374391		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1374391G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2081C>T	17.37:g.1374391G>A	ENSP00000459174:p.Ala694Val					MYO1C_uc002fsn.2_Missense_Mutation_p.A710V|MYO1C_uc002fso.2_Missense_Mutation_p.A694V|MYO1C_uc010vqj.1_Missense_Mutation_p.A694V|MYO1C_uc010vqk.1_Missense_Mutation_p.A705V	p.A729V	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	21	2406	-			729					Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.2186C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293395	0.80914	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	4.62	4.62	0.57501	Myosin head, motor domain (1);	0.102984	0.64402	D	0.000003	T	0.81399	0.4814	M	0.85630	2.765	0.45822	D	0.998696	P;P;P	0.52316	0.761;0.952;0.846	B;P;P	0.52598	0.434;0.703;0.637	D	0.85208	0.1019	10	0.62326	D	0.03	.	16.6953	0.85334	0.0:0.0:1.0:0.0	.	705;729;710	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	V	729;710;710;694;705;694	ENSP00000352834:A729V;ENSP00000412197:A710V;ENSP00000354283:A694V;ENSP00000437685:A705V	ENSP00000352834:A729V	A	-	2	0	MYO1C	1321141	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.516000	0.81772	2.402000	0.81655	0.558000	0.71614	GCC		0.632	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2				12	32	0	0	0	1	0	12	32		
ALOX15	246	broad.mit.edu	37	17	4535233	4535233	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:4535233G>C	ENST00000570836.1	-	14	1856	c.1760C>G	c.(1759-1761)tCt>tGt	p.S587C	ALOX15_ENST00000574640.1_Missense_Mutation_p.S548C|ALOX15_ENST00000293761.3_Missense_Mutation_p.S587C|ALOX15_ENST00000545513.1_Missense_Mutation_p.S609C			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	587	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CATCTGGAGAGAAGCCTGGTG	0.622																																						uc002fyh.2		NaN																	0				skin(3)|ovary(1)|lung(1)	5						c.(1759-1761)TCT>TGT		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						64.0	66.0	65.0					17																	4535233		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4535233G>C	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1760C>G	17.37:g.4535233G>C	ENSP00000458832:p.Ser587Cys					ALOX15_uc010vsd.1_Missense_Mutation_p.S548C|ALOX15_uc010vse.1_Missense_Mutation_p.S609C	p.S587C	NM_001140	NP_001131	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	13	1774	-			587			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.1760C>G	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	G	1.279	-0.611002	0.03690	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.76448	-1.02;-1.02	4.33	3.32	0.38043	Lipoxygenase, C-terminal (3);	0.143038	0.46145	D	0.000305	T	0.54127	0.1839	N	0.04335	-0.225	0.25917	N	0.983161	B;B;B	0.20368	0.036;0.001;0.044	B;B;B	0.32980	0.097;0.009;0.156	T	0.46205	-0.9208	10	0.02654	T	1	3.0949	9.8932	0.41302	0.0:0.2078:0.7922:0.0	.	609;548;587	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	C	587;609	ENSP00000293761:S587C;ENSP00000439855:S609C	ENSP00000293761:S587C	S	-	2	0	ALOX15	4481982	0.003000	0.15002	0.991000	0.47740	0.813000	0.45954	1.055000	0.30467	0.993000	0.38866	0.655000	0.94253	TCT		0.622	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2				8	50	0	0	0	1	0	8	50		
NUP88	4927	broad.mit.edu	37	17	5289552	5289552	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:5289552C>T	ENST00000573584.1	-	17	2709	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N	NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	734					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTGCGGATATCATTGATTTGC	0.363																																						uc002gbo.1		NaN																	0				kidney(1)	1						c.(2200-2202)GAT>AAT		nucleoporin 88kDa							264.0	240.0	248.0					17																	5289552		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5289552C>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.2200G>A	17.37:g.5289552C>T	ENSP00000458954:p.Asp734Asn					NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.D750N	p.D734N	NM_002532	NP_002523	Q99567	NUP88_HUMAN			17	2226	-			734					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.2200G>A	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461173	0.63513	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.94	4.94	0.65067	.	0.105124	0.64402	D	0.000007	T	0.40222	0.1108	L	0.29908	0.895	0.50313	D	0.999864	B;B	0.30634	0.288;0.056	B;B	0.29267	0.1;0.046	T	0.19679	-1.0298	9	0.08837	T	0.75	-14.977	11.1883	0.48671	0.0:0.9166:0.0:0.0834	.	619;734	B4DP20;Q99567	.;NUP88_HUMAN	N	734;619	.	ENSP00000225696:D734N	D	-	1	0	NUP88	5230276	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	4.782000	0.62396	2.733000	0.93635	0.655000	0.94253	GAT		0.363	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3		NM_002532		18	110	0	0	0	1	0	18	110		
DHX33	56919	broad.mit.edu	37	17	5347829	5347829	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:5347829G>C	ENST00000225296.3	-	12	2020	c.1820C>G	c.(1819-1821)tCa>tGa	p.S607*	DHX33_ENST00000433302.3_Nonsense_Mutation_p.S383*	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	607					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GATTGGCATTGACATCTGTTT	0.597																																						uc002gca.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1819-1821)TCA>TGA		DEAH (Asp-Glu-Ala-His) box polypeptide 33							51.0	49.0	50.0					17																	5347829		2203	4300	6503	SO:0001587	stop_gained	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5347829G>C	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1820C>G	17.37:g.5347829G>C	ENSP00000225296:p.Ser607*					DHX33_uc002gbz.2_Nonsense_Mutation_p.S378*|DHX33_uc002gcb.2_Nonsense_Mutation_p.S434*|DHX33_uc010clf.2_Nonsense_Mutation_p.S383*	p.S607*	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			12	1822	-			607					B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Nonsense_Mutation	SNP	ENST00000225296.3	37	c.1820C>G	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820165	0.71028	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	.	.	.	4.59	4.59	0.56863	.	0.117664	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.9197	0.86161	0.0:0.0:1.0:0.0	.	.	.	.	X	607;383	.	ENSP00000225296:S607X	S	-	2	0	DHX33	5288553	1.000000	0.71417	0.961000	0.40146	0.374000	0.29953	3.876000	0.56115	2.548000	0.85928	0.561000	0.74099	TCA		0.597	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2		NM_020162		7	27	0	0	0	1	0	7	27		
ZBTB4	57659	broad.mit.edu	37	17	7365511	7365511	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7365511G>T	ENST00000311403.4	-	4	3129	c.2790C>A	c.(2788-2790)ctC>ctA	p.L930L	ZBTB4_ENST00000380599.4_Silent_p.L930L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	930					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGGCGGCAAGGAGCTGGGGGC	0.627																																						uc002ghc.3		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2788-2790)CTC>CTA		zinc finger and BTB domain containing 4							114.0	120.0	118.0					17																	7365511		2203	4300	6503	SO:0001819	synonymous_variant	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7365511G>T	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2790C>A	17.37:g.7365511G>T						ZBTB4_uc002ghd.3_Silent_p.L930L	p.L930L	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	3040	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	930					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	c.2790C>A	CCDS11107.1																																																																																				0.627	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2		NM_020899		30	128	1	0	3.73148e-12	1	4.19043e-12	30	128		
TNFSF12	8742	broad.mit.edu	37	17	7460637	7460637	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7460637C>A	ENST00000293825.6	+	7	983	c.720C>A	c.(718-720)ctC>ctA	p.L240L	TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank|TNFSF13_ENST00000396545.4_5'Flank|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000349228.4_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000483039.1_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000380535.4_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	240					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CCCCCTTCCTCACCTACTTCG	0.692																																						uc002ghg.2		NaN																	0					0						c.(718-720)CTC>CTA		tumor necrosis factor (ligand) superfamily,							40.0	39.0	39.0					17																	7460637		2203	4300	6503	SO:0001819	synonymous_variant	8742				angiogenesis|apoptosis|cell differentiation|endothelial cell migration|immune response|induction of apoptosis|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|signal transduction	extracellular space|integral to plasma membrane|perinuclear region of cytoplasm	cytokine activity|tumor necrosis factor receptor binding	g.chr17:7460637C>A	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.720C>A	17.37:g.7460637C>A						TNFSF12_uc002ghh.2_RNA|TNFSF12-TNFSF13_uc002ghi.1_Intron|TNFSF13_uc002ghj.2_5'Flank|TNFSF13_uc002ghk.2_5'Flank|TNFSF13_uc002ghl.2_5'Flank|TNFSF13_uc010cmk.2_5'Flank|TNFSF13_uc010vua.1_5'Flank	p.L240L	NM_003809	NP_003800	O43508	TNF12_HUMAN			7	816	+		Prostate(122;0.157)	240			Extracellular (Potential).		Q8IZK7|Q8WUZ7	Silent	SNP	ENST00000293825.6	37	c.720C>A	CCDS11109.1																																																																																				0.692	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2		NM_003809		9	30	1	0	3.09899e-07	1	3.31189e-07	9	30		
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K	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	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; 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.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)	ACACGCACCTCAAAGCTGTTC	0.537		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		74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(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.(811-813)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							58.0	51.0	54.0					17																	7577127		2203	4300	6503	SO:0001583	missense	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.chr17:7577127C>T	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.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys	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_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	p.E271K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1005	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.811G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		17	17	0	0	0	1	0	17	17		
ZNF624	57547	broad.mit.edu	37	17	16552976	16552976	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:16552976C>G	ENST00000311331.7	-	2	174	c.83G>C	c.(82-84)cGc>cCc	p.R28P		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ACTTACCAGGCGTCCAACTGA	0.468																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(82-84)CGC>CCC		zinc finger protein 624							82.0	81.0	82.0					17																	16552976		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16552976C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.83G>C	17.37:g.16552976C>G	ENSP00000310472:p.Arg28Pro						p.R28P	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	166	-			28					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.83G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	2.260	-0.369392	0.05069	.	.	ENSG00000197566	ENST00000311331;ENST00000423860	T;T	0.05319	3.46;5.32	2.96	-1.47	0.08772	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.20196	N	0.999928	B	0.02656	0.0	B	0.01281	0.0	T	0.45264	-0.9273	9	0.05833	T	0.94	.	0.6218	0.00779	0.2416:0.1931:0.3725:0.1928	.	28	Q9P2J8	ZN624_HUMAN	P	28	ENSP00000310472:R28P;ENSP00000406525:R28P	ENSP00000310472:R28P	R	-	2	0	ZNF624	16493701	0.999000	0.42202	0.977000	0.42913	0.419000	0.31324	0.798000	0.27014	-0.263000	0.09378	-0.850000	0.03035	CGC		0.468	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		4	28	0	0	0	1	0	4	28		
ATPAF2	91647	broad.mit.edu	37	17	17942265	17942265	+	Silent	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:17942265A>C	ENST00000474627.3	-	1	217	c.63T>G	c.(61-63)ggT>ggG	p.G21G	GID4_ENST00000268719.4_5'Flank|ATPAF2_ENST00000585101.1_Silent_p.G21G|GID4_ENST00000376345.3_5'Flank	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	21					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CGCTGGGGCCACCCGCCGGCC	0.672																																						uc002gse.1		NaN																	0					0						c.(61-63)GGT>GGG		ATP synthase mitochondrial F1 complex assembly							13.0	16.0	15.0					17																	17942265		2197	4293	6490	SO:0001819	synonymous_variant	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17942265A>C	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.63T>G	17.37:g.17942265A>C						C17orf39_uc002gsg.1_5'Flank|ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010vxf.1_Silent_p.G21G	p.G21G	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN			1	216	-	all_neural(463;0.228)		21					A6NDE5|A8K2J2|Q6XYC7	Silent	SNP	ENST00000474627.3	37	c.63T>G	CCDS32585.1																																																																																				0.672	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3		NM_145691		5	4	0	0	0	1	0	5	4		
MYO15A	51168	broad.mit.edu	37	17	18025324	18025324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:18025324G>C	ENST00000205890.5	+	2	3548	c.3210G>C	c.(3208-3210)caG>caC	p.Q1070H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1070					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTGTGACCAGACCAGGGCCA	0.647																																						uc010vxh.1		NaN																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(3208-3210)CAG>CAC		myosin XV							85.0	91.0	89.0					17																	18025324		1998	4164	6162	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025324G>C	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3210G>C	17.37:g.18025324G>C	ENSP00000205890:p.Gln1070His						p.Q1070H	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	3548	+	all_neural(463;0.228)		1070			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3210G>C	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	g	9.246	1.039400	0.19669	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.08	1.67	0.24075	.	.	.	.	.	T	0.74253	0.3692	N	0.19112	0.55	0.09310	N	1	B	0.33379	0.41	B	0.31751	0.135	T	0.63651	-0.6589	9	0.37606	T	0.19	.	4.9784	0.14153	0.1983:0.1751:0.6266:0.0	.	1070	Q9UKN7	MYO15_HUMAN	H	1070	ENSP00000205890:Q1070H	ENSP00000205890:Q1070H	Q	+	3	2	MYO15A	17966049	0.012000	0.17670	0.006000	0.13384	0.156000	0.22039	0.746000	0.26275	1.114000	0.41781	0.561000	0.74099	CAG		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1		NM_016239		22	75	0	0	0	1	0	22	75		
FBXW10	10517	broad.mit.edu	37	17	18668067	18668067	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:18668067G>T	ENST00000395665.4	+	8	1667	c.1446G>T	c.(1444-1446)ctG>ctT	p.L482L	FBXW10_ENST00000308799.4_Silent_p.L511L|FBXW10_ENST00000301938.4_Silent_p.L482L|FBXW10_ENST00000395667.1_Silent_p.L482L			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	482										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						ACTGGGATCTGAAAAGTGGGG	0.483																																						uc002guk.2		NaN																	0				ovary(1)	1						c.(1444-1446)CTG>CTT		F-box and WD-40 domain protein 10							61.0	61.0	61.0					17																	18668067		2203	4297	6500	SO:0001819	synonymous_variant	10517							g.chr17:18668067G>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1446G>T	17.37:g.18668067G>T						FBXW10_uc002guj.2_Silent_p.L482L|FBXW10_uc002gul.2_Silent_p.L511L|FBXW10_uc010cqh.1_Silent_p.L482L	p.L482L	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			8	1678	+			482			WD 3.		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	ENST00000395665.4	37	c.1446G>T	CCDS11199.3																																																																																				0.483	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2		NM_031456		15	40	1	0	2.23348e-06	1	2.36288e-06	15	40		
SPECC1	92521	broad.mit.edu	37	17	20130924	20130924	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:20130924G>C	ENST00000261503.5	+	5	2113	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	SPECC1_ENST00000395522.2_Missense_Mutation_p.E607Q|SPECC1_ENST00000395525.3_Missense_Mutation_p.E607Q|SPECC1_ENST00000395529.3_Missense_Mutation_p.E688Q|SPECC1_ENST00000584527.1_Missense_Mutation_p.E106Q|SPECC1_ENST00000536879.1_Missense_Mutation_p.E28Q|SPECC1_ENST00000395527.4_Missense_Mutation_p.E688Q|SPECC1_ENST00000472876.1_3'UTR|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395530.2_Missense_Mutation_p.E607Q	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	688					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ACTCATCAGTGAGCTAGAAAG	0.473																																						uc002gwq.2		NaN																	0					0						c.(2062-2064)GAG>CAG		spectrin domain with coiled-coils 1 NSP5b3b							60.0	55.0	56.0					17																	20130924		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20130924G>C	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2062G>C	17.37:g.20130924G>C	ENSP00000261503:p.Glu688Gln					CYTSB_uc010cqx.2_Missense_Mutation_p.E688Q|CYTSB_uc002gwr.2_Missense_Mutation_p.E688Q|CYTSB_uc002gws.2_Missense_Mutation_p.E688Q|CYTSB_uc002gwv.2_Missense_Mutation_p.E607Q|CYTSB_uc010vzf.1_Missense_Mutation_p.E28Q|CYTSB_uc002gww.2_Missense_Mutation_p.E464Q|CYTSB_uc002gwt.2_Missense_Mutation_p.E607Q|CYTSB_uc002gwu.2_Missense_Mutation_p.E607Q	p.E688Q	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN			5	2207	+			688			Potential.		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2062G>C	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017202	0.75161	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000536879;ENST00000395522;ENST00000395527;ENST00000395525	T;D;D;D;D	0.86562	-0.22;-2.14;-1.64;-1.64;-1.64	4.62	4.62	0.57501	.	0.049043	0.85682	D	0.000000	D	0.88815	0.6539	L	0.41710	1.295	0.49213	D	0.999764	P;D;D;D;P	0.59767	0.858;0.986;0.986;0.986;0.858	P;P;P;P;P	0.60173	0.672;0.87;0.87;0.87;0.597	D	0.88125	0.2834	10	0.41790	T	0.15	-27.615	15.3488	0.74368	0.0:0.0:1.0:0.0	.	688;607;607;688;688	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	Q	688;688;688;28;607;607;607	ENSP00000261503:E688Q;ENSP00000378900:E688Q;ENSP00000438294:E28Q;ENSP00000378893:E607Q;ENSP00000378896:E607Q	ENSP00000261503:E688Q	E	+	1	0	SPECC1	20071516	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.308000	0.96247	2.571000	0.86741	0.650000	0.86243	GAG		0.473	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1		NM_152904		11	41	0	0	0	1	0	11	41		
SLC13A2	9058	broad.mit.edu	37	17	26818799	26818799	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26818799C>T	ENST00000314669.5	+	6	1227	c.807C>T	c.(805-807)ttC>ttT	p.F269F	SLC13A2_ENST00000444914.3_Silent_p.F318F|SLC13A2_ENST00000545060.1_Silent_p.F226F|SLC13A2_ENST00000537681.1_Silent_p.F198F	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	269					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)	p.F269F(2)|p.F318F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGTTCAGCTTCGCCTTCCCCA	0.582																																						uc002hbh.2		NaN																	3	Substitution - coding silent(3)		endometrium(2)|large_intestine(1)		0						c.(805-807)TTC>TTT		solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)						176.0	153.0	161.0					17																	26818799		2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26818799C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.807C>T	17.37:g.26818799C>T						SLC13A2_uc010wal.1_Silent_p.F226F|SLC13A2_uc010wam.1_Silent_p.F225F|SLC13A2_uc010wan.1_Silent_p.F318F|SLC13A2_uc010wao.1_Silent_p.F226F|SLC13A2_uc002hbi.2_Silent_p.F198F	p.F269F	NM_003984	NP_003975	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	6	874	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		269					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.807C>T	CCDS11231.1																																																																																				0.582	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1		NM_003984		9	77	0	0	0	1	0	9	77		
PIGS	94005	broad.mit.edu	37	17	26890912	26890912	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26890912G>C	ENST00000308360.7	-	4	675	c.300C>G	c.(298-300)atC>atG	p.I100M	PIGS_ENST00000395346.2_Missense_Mutation_p.I92M|PIGS_ENST00000543734.1_Missense_Mutation_p.I39M|PIGS_ENST00000465444.1_5'Flank	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	100					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					AACGGCATTTGATTTTCATTT	0.522																																						uc002hbo.2		NaN																	0				breast(2)|urinary_tract(1)|kidney(1)	4						c.(298-300)ATC>ATG		phosphatidylinositol glycan anchor biosynthesis,							154.0	140.0	144.0					17																	26890912		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26890912G>C		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.300C>G	17.37:g.26890912G>C	ENSP00000309430:p.Ile100Met					PIGS_uc002hbn.2_Missense_Mutation_p.I92M|PIGS_uc010wap.1_Missense_Mutation_p.I39M	p.I100M	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			4	673	-	Lung NSC(42;0.00431)		100			Lumenal (Potential).		Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.300C>G	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763331	0.49574	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.44881	0.91;0.91;0.91	5.21	-1.85	0.07784	.	0.198887	0.45867	D	0.000333	T	0.35451	0.0932	L	0.54323	1.7	0.35492	D	0.799072	P;P	0.40211	0.707;0.659	B;B	0.44044	0.439;0.312	T	0.35201	-0.9798	10	0.54805	T	0.06	-8.8051	5.3047	0.15797	0.386:0.1344:0.4796:0.0	.	100;92	Q96S52;Q96S52-2	PIGS_HUMAN;.	M	92;100;39	ENSP00000378755:I92M;ENSP00000309430:I100M;ENSP00000438447:I39M	ENSP00000309430:I100M	I	-	3	3	PIGS	23915039	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	0.775000	0.26689	-0.233000	0.09797	-0.136000	0.14681	ATC		0.522	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3		NM_033198		17	110	0	0	0	1	0	17	110		
KIAA0100	9703	broad.mit.edu	37	17	26951382	26951382	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26951382C>T	ENST00000528896.2	-	25	4695	c.4621G>A	c.(4621-4623)Gaa>Aaa	p.E1541K	KIAA0100_ENST00000389003.3_Missense_Mutation_p.E1398K|KIAA0100_ENST00000544884.1_Missense_Mutation_p.E1398K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1541						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCTGTCTCTTCAATTAGCTTC	0.463																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(4621-4623)GAA>AAA		hypothetical protein LOC9703 precursor							150.0	128.0	135.0					17																	26951382		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26951382C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4621G>A	17.37:g.26951382C>T	ENSP00000436773:p.Glu1541Lys					KIAA0100_uc002hbt.2_5'Flank	p.E1541K	NM_014680	NP_055495	Q14667	K0100_HUMAN			25	4720	-	Lung NSC(42;0.00431)		1541					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.4621G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.024120	0.93462	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.25085	1.82;1.82	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.12993	-1.0526	10	0.13853	T	0.58	.	19.9144	0.97043	0.0:1.0:0.0:0.0	.	1541	Q14667	K0100_HUMAN	K	1541;1511;1541;1398	ENSP00000436773:E1541K;ENSP00000446443:E1398K	ENSP00000005905:E1541K	E	-	1	0	KIAA0100	23975509	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.399000	0.79935	2.716000	0.92895	0.491000	0.48974	GAA		0.463	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		14	59	0	0	0	1	0	14	59		
TLCD1	116238	broad.mit.edu	37	17	27051561	27051561	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27051561C>A	ENST00000292090.3	-	4	821	c.711G>T	c.(709-711)aaG>aaT	p.K237N	SNORD4B_ENST00000459083.1_RNA|TLCD1_ENST00000394933.3_Missense_Mutation_p.K190N|AC010761.8_ENST00000582718.1_RNA|SNORD42A_ENST00000459584.1_RNA|SNORD4A_ENST00000459174.1_RNA|AC010761.14_ENST00000587898.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					TGTGTTGCTTCTTGGGGACAT	0.522																																						uc002hco.2		NaN																	0					0						c.(709-711)AAG>AAT		TLC domain containing 1 isoform 1							180.0	169.0	173.0					17																	27051561		2203	4300	6503	SO:0001583	missense	116238					integral to membrane		g.chr17:27051561C>A	BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.711G>T	17.37:g.27051561C>A	ENSP00000292090:p.Lys237Asn					TLCD1_uc010waw.1_Missense_Mutation_p.K190N	p.K237N	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN			4	826	-	Lung NSC(42;0.00431)		237					A8MYP9	Missense_Mutation	SNP	ENST00000292090.3	37	c.711G>T	CCDS11242.1	.	.	.	.	.	.	.	.	.	.	C	2.888	-0.230296	0.05983	.	.	ENSG00000160606	ENST00000292090;ENST00000394933	.	.	.	5.55	-2.68	0.06041	.	1.710450	0.02227	N	0.064566	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12319	-1.0552	9	0.20519	T	0.43	-8.9611	5.396	0.16268	0.1527:0.4673:0.2842:0.0958	.	190;237	A8MYP9;Q96CP7	.;TLCD1_HUMAN	N	237;190	.	ENSP00000292090:K237N	K	-	3	2	TLCD1	24075688	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.640000	0.05440	-0.234000	0.09782	-0.502000	0.04539	AAG		0.522	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1		NM_138463		30	202	1	0	3.90053e-15	1	4.43562e-15	30	202		
TLCD1	116238	broad.mit.edu	37	17	27052547	27052547	+	Missense_Mutation	SNP	C	C	G	rs200266791		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27052547C>G	ENST00000292090.3	-	2	339	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	SNORD4B_ENST00000459083.1_RNA|TLCD1_ENST00000394933.3_Missense_Mutation_p.E30Q|AC010761.8_ENST00000582718.1_RNA|SNORD42A_ENST00000459584.1_RNA|SNORD4A_ENST00000459174.1_RNA|AC010761.14_ENST00000587898.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	77	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					CACGCCGTCTCAATCTCCACT	0.542																																						uc002hco.2		NaN																	0					0						c.(229-231)GAG>CAG		TLC domain containing 1 isoform 1							122.0	110.0	114.0					17																	27052547		2203	4300	6503	SO:0001583	missense	116238					integral to membrane		g.chr17:27052547C>G	BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.229G>C	17.37:g.27052547C>G	ENSP00000292090:p.Glu77Gln					TLCD1_uc010waw.1_Missense_Mutation_p.E30Q	p.E77Q	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN			2	344	-	Lung NSC(42;0.00431)		77			TLC.|Helical; (Potential).		A8MYP9	Missense_Mutation	SNP	ENST00000292090.3	37	c.229G>C	CCDS11242.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215905	0.39201	.	.	ENSG00000160606	ENST00000292090;ENST00000394933	D	0.85411	-1.98	5.0	5.0	0.66597	TRAM/LAG1/CLN8 homology domain (3);	0.175038	0.50627	D	0.000107	T	0.70971	0.3285	N	0.16478	0.41	0.27250	N	0.958924	P;B	0.34934	0.476;0.231	B;B	0.33121	0.158;0.096	T	0.62478	-0.6846	10	0.27082	T	0.32	-4.8852	8.8536	0.35214	0.0:0.8962:0.0:0.1038	.	30;77	A8MYP9;Q96CP7	.;TLCD1_HUMAN	Q	77;30	ENSP00000292090:E77Q	ENSP00000292090:E77Q	E	-	1	0	TLCD1	24076674	0.971000	0.33674	0.998000	0.56505	0.897000	0.52465	1.393000	0.34497	2.755000	0.94549	0.555000	0.69702	GAG		0.542	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1		NM_138463		24	110	0	0	0	1	0	24	110		
PIPOX	51268	broad.mit.edu	37	17	27382234	27382234	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27382234T>C	ENST00000323372.4	+	6	1287	c.961T>C	c.(961-963)Tac>Cac	p.Y321H	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	321					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GAGCTGCATGTACACGGTAAG	0.567																																						uc002hdr.1		NaN																	0					0						c.(961-963)TAC>CAC		pipecolic acid oxidase	Glycine(DB00145)						127.0	111.0	117.0					17																	27382234		2203	4300	6503	SO:0001583	missense	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27382234T>C	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.961T>C	17.37:g.27382234T>C	ENSP00000317721:p.Tyr321His						p.Y321H	NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		6	1287	+	Lung NSC(42;0.015)		321					B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	c.961T>C	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.660918	0.88154	.	.	ENSG00000179761	ENST00000323372	D	0.82255	-1.59	5.87	5.87	0.94306	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.93969	0.8069	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95632	0.8690	10	0.87932	D	0	-12.2096	15.2536	0.73568	0.0:0.0:0.0:1.0	.	321	Q9P0Z9	SOX_HUMAN	H	321	ENSP00000317721:Y321H	ENSP00000317721:Y321H	Y	+	1	0	PIPOX	24406360	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.752000	0.74898	2.243000	0.73865	0.460000	0.39030	TAC		0.567	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1		NM_016518		30	133	0	0	0	1	0	30	133		
CORO6	84940	broad.mit.edu	37	17	27943318	27943318	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27943318G>A	ENST00000445145.2	-	8	1042	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	CORO6_ENST00000456796.3_Silent_p.I113I|CORO6_ENST00000345068.5_Silent_p.I347I|CORO6_ENST00000584969.1_Silent_p.I347I|CORO6_ENST00000388767.3_Silent_p.I347I|CORO6_ENST00000580212.1_Silent_p.I307I|CORO6_ENST00000577909.1_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	347					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CAGTCATGATGATAGGTTCAC	0.572																																						uc002hel.2		NaN																	0					0						c.(1039-1041)ATC>ATT		coronin 6							72.0	61.0	65.0					17																	27943318		2201	4300	6501	SO:0001819	synonymous_variant	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27943318G>A	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.1041C>T	17.37:g.27943318G>A						CORO6_uc002hem.2_Silent_p.I113I|CORO6_uc002hen.2_Silent_p.I113I	p.I347I	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN			8	1043	-			347					B3KU26|Q71MF3|Q8WYH7|Q96K02	Silent	SNP	ENST00000445145.2	37	c.1041C>T																																																																																					0.572	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1		NM_032854		3	17	0	0	0	1	0	3	17		
CCL13	6357	broad.mit.edu	37	17	32685093	32685093	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:32685093G>C	ENST00000225844.2	+	3	315	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	80					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				CAAAGGAGAAGTGGGTCCAGA	0.493																																						uc002hic.2		NaN																	0					0						c.(238-240)AAG>AAC		small inducible cytokine A13 precursor							73.0	71.0	71.0					17																	32685093		2203	4300	6503	SO:0001583	missense	6357				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	g.chr17:32685093G>C	AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"""Chemokine ligands"", ""Endogenous ligands"""	10611	protein-coding gene	gene with protein product		601391	"""small inducible cytokine subfamily A (Cys-Cys), member 13"""	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.240G>C	17.37:g.32685093G>C	ENSP00000225844:p.Lys80Asn						p.K80N	NM_005408	NP_005399	Q99616	CCL13_HUMAN			3	315	+		Ovarian(249;0.0443)|Breast(31;0.151)	80					O95689|Q6ICQ6	Missense_Mutation	SNP	ENST00000225844.2	37	c.240G>C	CCDS11281.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244627	0.22796	.	.	ENSG00000181374	ENST00000225844	T	0.05447	3.44	4.37	-0.0339	0.13898	Chemokine interleukin-8-like domain (3);	.	.	.	.	T	0.09686	0.0238	.	.	.	0.38094	D	0.937041	P	0.37548	0.599	P	0.46026	0.501	T	0.20840	-1.0263	8	0.56958	D	0.05	.	6.2916	0.21063	0.4736:0.0:0.5264:0.0	.	80	Q99616	CCL13_HUMAN	N	80	ENSP00000225844:K80N	ENSP00000225844:K80N	K	+	3	2	CCL13	29709206	0.000000	0.05858	0.837000	0.33122	0.369000	0.29798	-1.235000	0.02928	-0.016000	0.14127	-0.258000	0.10820	AAG		0.493	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1		NM_005408		19	33	0	0	0	1	0	19	33		
TMEM132E	124842	broad.mit.edu	37	17	32964869	32964869	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:32964869G>T	ENST00000321639.5	+	10	2901	c.2573G>T	c.(2572-2574)gGa>gTa	p.G858V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	858						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGGGTGCAAGGAGAGCTGTCG	0.697																																						uc002hif.2		NaN																	0				central_nervous_system(1)	1						c.(2572-2574)GGA>GTA		transmembrane protein 132E precursor							27.0	30.0	29.0					17																	32964869		2163	4221	6384	SO:0001583	missense	124842					integral to membrane		g.chr17:32964869G>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2573G>T	17.37:g.32964869G>T	ENSP00000316532:p.Gly858Val						p.G858V	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2901	+			858			Cytoplasmic (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2573G>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	2.571	-0.299727	0.05532	.	.	ENSG00000181291	ENST00000321639	T	0.05649	3.41	4.73	2.7	0.31948	.	0.217292	0.47852	D	0.000220	T	0.04318	0.0119	L	0.28274	0.84	0.43372	D	0.995461	B	0.12013	0.005	B	0.15870	0.014	T	0.43750	-0.9372	10	0.17369	T	0.5	-32.7762	7.9341	0.29920	0.0892:0.3127:0.5982:0.0	.	858	Q6IEE7	T132E_HUMAN	V	858	ENSP00000316532:G858V	ENSP00000316532:G858V	G	+	2	0	TMEM132E	29988982	0.222000	0.23652	0.182000	0.23118	0.009000	0.06853	0.527000	0.22987	0.585000	0.29608	-0.189000	0.12847	GGA		0.697	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2		NM_207313		37	30	1	0	9.04072e-19	1	1.03463e-18	37	30		
UNC45B	146862	broad.mit.edu	37	17	33501356	33501356	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:33501356C>G	ENST00000268876.5	+	14	2029	c.1932C>G	c.(1930-1932)atC>atG	p.I644M	UNC45B_ENST00000394570.2_Missense_Mutation_p.I642M|UNC45B_ENST00000378449.1_Missense_Mutation_p.I563M|UNC45B_ENST00000433649.1_Missense_Mutation_p.I642M|UNC45B_ENST00000591048.1_Missense_Mutation_p.I563M	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	644					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATAGTGCCATCCTCACTGACC	0.597																																						uc002hja.2		NaN																	0				ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1930-1932)ATC>ATG		cardiomyopathy associated 4 isoform 1							89.0	84.0	86.0					17																	33501356		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33501356C>G	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1932C>G	17.37:g.33501356C>G	ENSP00000268876:p.Ile644Met					UNC45B_uc002hjb.2_Missense_Mutation_p.I642M|UNC45B_uc002hjc.2_Missense_Mutation_p.I642M|UNC45B_uc010cto.2_Missense_Mutation_p.I563M	p.I644M	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			14	2029	+		Ovarian(249;0.17)	644					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1932C>G	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559735	0.27827	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.69926	-0.44;-0.44;-0.44	4.91	2.93	0.34026	Armadillo-like helical (1);Armadillo-type fold (1);	0.154830	0.56097	D	0.000038	T	0.66257	0.2771	L	0.31294	0.92	0.36261	D	0.854522	D;B;B	0.69078	0.997;0.021;0.012	D;B;B	0.80764	0.994;0.068;0.031	T	0.69643	-0.5090	10	0.66056	D	0.02	-26.6726	3.6278	0.08120	0.1652:0.5037:0.0:0.3311	.	563;642;644	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	M	644;644;642;563	ENSP00000268876:I644M;ENSP00000412840:I642M;ENSP00000367710:I563M	ENSP00000268876:I644M	I	+	3	3	UNC45B	30525469	0.180000	0.23148	1.000000	0.80357	0.930000	0.56654	-0.302000	0.08221	0.665000	0.31066	-0.229000	0.12294	ATC		0.597	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2		NM_173167		12	82	0	0	0	1	0	12	82		
AP2B1	163	broad.mit.edu	37	17	33953812	33953812	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:33953812G>A	ENST00000262325.7	+	7	1442	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	AP2B1_ENST00000538556.1_Missense_Mutation_p.E240K|AP2B1_ENST00000589344.1_Missense_Mutation_p.E297K|AP2B1_ENST00000312678.8_Missense_Mutation_p.E297K|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.E259K|AP2B1_ENST00000537622.2_Missense_Mutation_p.E297K	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	297					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGGGAGCCAGAAGTGCAGTA	0.408																																						uc002hjr.2		NaN																	0				ovary(1)	1						c.(889-891)GAA>AAA		adaptor-related protein complex 2, beta 1							167.0	173.0	171.0					17																	33953812		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33953812G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.889G>A	17.37:g.33953812G>A	ENSP00000262325:p.Glu297Lys					AP2B1_uc002hjq.2_Missense_Mutation_p.E297K|AP2B1_uc010wci.1_Missense_Mutation_p.E259K|AP2B1_uc002hjs.2_Missense_Mutation_p.E240K|AP2B1_uc002hjt.2_Missense_Mutation_p.E297K|AP2B1_uc010ctv.2_Missense_Mutation_p.E297K|AP2B1_uc010wcj.1_Missense_Mutation_p.E34K	p.E297K	NM_001282	NP_001273	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	7	1078	+		Ovarian(249;0.17)	297					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.889G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292409	0.95546	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.62	5.62	0.85841	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	H	0.98295	4.195	0.80722	D	1	D;D;D;D	0.89917	0.999;0.996;1.0;1.0	D;D;D;D	0.85130	0.994;0.976;0.997;0.991	D	0.84395	0.0557	10	0.87932	D	0	-0.2801	18.6561	0.91455	0.0:0.0:1.0:0.0	.	34;259;297;297	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	K	297;297;240;297;34	ENSP00000262325:E297K;ENSP00000314414:E297K;ENSP00000440563:E240K;ENSP00000437413:E297K	ENSP00000262325:E297K	E	+	1	0	AP2B1	30977925	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.808000	0.99193	2.650000	0.89964	0.563000	0.77884	GAA		0.408	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1				38	226	0	0	0	1	0	38	226		
CCL16	6360	broad.mit.edu	37	17	34308454	34308454	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:34308454C>T	ENST00000293275.3	-	1	78	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	1					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGAGACCTTCATCCTCTCAG	0.547																																						uc002hkl.2		NaN																	0					0						c.(1-3)ATG>ATA		small inducible cytokine A16 precursor							67.0	50.0	56.0					17																	34308454		2202	4299	6501	SO:0001582	initiator_codon_variant	6360				cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity	g.chr17:34308454C>T	AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"""Chemokine ligands"", ""Endogenous ligands"""	10614	protein-coding gene	gene with protein product		601394	"""small inducible cytokine subfamily A (Cys-Cys), member 16"""	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.3G>A	17.37:g.34308454C>T	ENSP00000293275:p.Met1Ile					CCL16_uc002hkm.2_RNA	p.M1I	NM_004590	NP_004581	O15467	CCL16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	70	-		Ovarian(249;0.17)	1					Q4KKU0	Missense_Mutation	SNP	ENST00000293275.3	37	c.3G>A	CCDS11303.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360455	0.41801	.	.	ENSG00000161573	ENST00000293275	T	0.04706	3.57	3.5	2.48	0.30137	.	0.882556	0.09675	N	0.770615	T	0.05410	0.0143	.	.	.	0.80722	D	1	B	0.17038	0.02	B	0.17098	0.017	T	0.19778	-1.0295	9	0.87932	D	0	.	7.9763	0.30157	0.2441:0.7559:0.0:0.0	.	1	O15467	CCL16_HUMAN	I	1	ENSP00000293275:M1I	ENSP00000293275:M1I	M	-	3	0	CCL16	31332567	1.000000	0.71417	0.971000	0.41717	0.182000	0.23217	1.564000	0.36375	0.766000	0.33244	0.462000	0.41574	ATG		0.547	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256579.1		NM_004590	Missense_Mutation	3	13	0	0	0	1	0	3	13		
GGNBP2	79893	broad.mit.edu	37	17	34923593	34923593	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:34923593G>C	ENST00000304718.4	+	6	935	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	207					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGAAACACTAGAAACATATCT	0.418																																						uc002hnb.2		NaN																	0				ovary(2)	2						c.(619-621)GAA>CAA		zinc finger protein 403							139.0	128.0	132.0					17																	34923593		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34923593G>C	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.619G>C	17.37:g.34923593G>C	ENSP00000307617:p.Glu207Gln					GGNBP2_uc002hna.2_Missense_Mutation_p.E207Q	p.E207Q	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	6	868	+		Breast(25;0.00957)|Ovarian(249;0.17)	207					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.619G>C	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659588	0.88154	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.79375	0.4435	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.964	T	0.80885	-0.1182	9	0.72032	D	0.01	-18.756	19.4017	0.94632	0.0:0.0:1.0:0.0	.	207;207	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	Q	207	.	ENSP00000307617:E207Q	E	+	1	0	GGNBP2	31997706	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.092000	0.94157	2.577000	0.86979	0.558000	0.71614	GAA		0.418	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2		NM_024835		16	61	0	0	0	1	0	16	61		
LHX1	3975	broad.mit.edu	37	17	35298106	35298106	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35298106C>T	ENST00000254457.5	+	3	2008	c.597C>T	c.(595-597)ttC>ttT	p.F199F	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	199					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGCCGCCTTCGCTGCTACAC	0.677																																						uc002hnh.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(595-597)TTC>TTT		LIM homeobox protein 1							23.0	26.0	25.0					17																	35298106		2194	4296	6490	SO:0001819	synonymous_variant	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35298106C>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.597C>T	17.37:g.35298106C>T						LHX1_uc010cux.1_Silent_p.F107F	p.F199F	NM_005568	NP_005559	P48742	LHX1_HUMAN			3	1593	+		Breast(25;0.00607)	199			Homeobox.		Q3MIW0	Silent	SNP	ENST00000254457.5	37	c.597C>T	CCDS11316.1																																																																																				0.677	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3		NM_005568		7	17	0	0	0	1	0	7	17		
ACACA	31	broad.mit.edu	37	17	35634815	35634815	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35634815C>T	ENST00000394406.2	-	6	773	c.583G>A	c.(583-585)Gat>Aat	p.D195N	ACACA_ENST00000360679.3_Missense_Mutation_p.D137N|ACACA_ENST00000353139.5_Missense_Mutation_p.D232N|ACACA_ENST00000335166.5_Missense_Mutation_p.D117N	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	195	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTAGCAATATCAAGAATTAAT	0.383																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(583-585)GAT>AAT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						220.0	188.0	199.0					17																	35634815		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35634815C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.583G>A	17.37:g.35634815C>T	ENSP00000377928:p.Asp195Asn					ACACA_uc002hnk.2_Missense_Mutation_p.D117N|ACACA_uc002hnl.2_Missense_Mutation_p.D137N|ACACA_uc002hnn.2_Missense_Mutation_p.D195N|ACACA_uc002hno.2_Missense_Mutation_p.D232N|ACACA_uc010cuz.2_Missense_Mutation_p.D195N|ACACA_uc002hnq.2_Missense_Mutation_p.D117N	p.D195N	NM_198836	NP_942133	Q13085	ACACA_HUMAN			6	774	-		Breast(25;0.00157)|Ovarian(249;0.15)	195			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.583G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	35	5.471335	0.96274	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.69	5.69	0.88448	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.047266	0.85682	D	0.000000	D	0.97645	0.9228	M	0.83483	2.645	0.80722	D	1	P;P;B	0.40909	0.72;0.732;0.338	P;P;B	0.46026	0.462;0.501;0.367	D	0.98093	1.0410	10	0.62326	D	0.03	-20.2154	19.8149	0.96562	0.0:1.0:0.0:0.0	.	232;195;137	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	N	232;137;195;219;117;117	ENSP00000344789:D232N;ENSP00000353898:D137N;ENSP00000377928:D195N;ENSP00000335323:D117N	ENSP00000335323:D117N	D	-	1	0	ACACA	32708928	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.707000	0.84623	2.679000	0.91253	0.591000	0.81541	GAT		0.383	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		7	48	0	0	0	1	0	7	48		
TADA2A	6871	broad.mit.edu	37	17	35804846	35804846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35804846G>A	ENST00000394395.2	+	8	753	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	TADA2A_ENST00000225396.6_Missense_Mutation_p.E194K|TADA2A_ENST00000417170.1_Missense_Mutation_p.E194K|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Missense_Mutation_p.E194K	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	194					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TGATTTTGTTGAAGATGACTC	0.403																																						uc002hnt.2		NaN																	0				breast(3)|skin(1)	4						c.(580-582)GAA>AAA		transcriptional adaptor 2A isoform a							232.0	219.0	223.0					17																	35804846		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35804846G>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.580G>A	17.37:g.35804846G>A	ENSP00000377918:p.Glu194Lys					TADA2A_uc002hnu.1_Missense_Mutation_p.E194K|TADA2A_uc002hnv.2_Missense_Mutation_p.E194K|TADA2A_uc010wdd.1_Missense_Mutation_p.E194K|TADA2A_uc002hnw.2_Missense_Mutation_p.E93K|TADA2A_uc010cvb.2_5'UTR	p.E194K	NM_001488	NP_001479	O75478	TAD2A_HUMAN			8	737	+			194					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.580G>A	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775331	0.90108	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396;ENST00000417170	T;T;T	0.46451	0.87;0.87;0.87	5.93	5.93	0.95920	.	0.043472	0.85682	D	0.000000	T	0.41743	0.1172	L	0.57536	1.79	0.80722	D	1	B;B	0.26672	0.134;0.156	B;B	0.23275	0.045;0.037	T	0.31251	-0.9950	10	0.12430	T	0.62	-21.6385	20.3539	0.98825	0.0:0.0:1.0:0.0	.	194;194	O75478-2;O75478	.;TAD2A_HUMAN	K	194;93;194;194	ENSP00000377918:E194K;ENSP00000225396:E194K;ENSP00000406699:E194K	ENSP00000225396:E194K	E	+	1	0	TADA2A	32878959	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAA		0.403	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3		NM_001488		38	218	0	0	0	1	0	38	218		
GPR179	440435	broad.mit.edu	37	17	36483085	36483085	+	Missense_Mutation	SNP	G	G	A	rs373508796		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:36483085G>A	ENST00000342292.4	-	11	6387	c.6367C>T	c.(6367-6369)Ccc>Tcc	p.P2123S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2123					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGCAGAGGGAGCCTCTACC	0.572																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(6367-6369)CCC>TCC		GPR158-like 1 precursor							88.0	89.0	89.0					17																	36483085		2019	4191	6210	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36483085G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6367C>T	17.37:g.36483085G>A	ENSP00000345060:p.Pro2123Ser						p.P2123S	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	6388	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	2123			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.6367C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	6.650	0.488442	0.12641	.	.	ENSG00000188888	ENST00000342292	T	0.52526	0.66	4.88	1.82	0.25136	.	0.164302	0.29348	N	0.012405	T	0.37839	0.1018	M	0.62723	1.935	0.09310	N	1	B	0.28378	0.209	B	0.24848	0.056	T	0.34403	-0.9830	10	0.54805	T	0.06	-8.8212	3.6448	0.08180	0.2764:0.0:0.551:0.1726	.	2123	Q6PRD1	GP179_HUMAN	S	2123	ENSP00000345060:P2123S	ENSP00000345060:P2123S	P	-	1	0	GPR179	33736611	0.000000	0.05858	0.003000	0.11579	0.269000	0.26545	-0.117000	0.10708	0.267000	0.21916	-0.258000	0.10820	CCC		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				21	108	0	0	0	1	0	21	108		
CACNB1	782	broad.mit.edu	37	17	37347815	37347815	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:37347815G>C	ENST00000394303.3	-	3	410	c.203C>G	c.(202-204)tCa>tGa	p.S68*	CACNB1_ENST00000344140.5_Nonsense_Mutation_p.S68*|CACNB1_ENST00000394310.3_Nonsense_Mutation_p.S68*|CACNB1_ENST00000582877.1_5'UTR	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	68					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCAGAGTCTGATGGACGGCT	0.587																																					Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(202-204)TCA>TGA		calcium channel, voltage-dependent, beta 1	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						84.0	69.0	74.0					17																	37347815		2203	4300	6503	SO:0001587	stop_gained	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37347815G>C		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.203C>G	17.37:g.37347815G>C	ENSP00000377840:p.Ser68*					CACNB1_uc002hrl.1_Translation_Start_Site|CACNB1_uc002hrn.2_Nonsense_Mutation_p.S68*|CACNB1_uc002hro.2_Nonsense_Mutation_p.S68*|CACNB1_uc002hrp.1_Nonsense_Mutation_p.S68*|CACNB1_uc010web.1_Nonsense_Mutation_p.S21*	p.S68*	NM_000723	NP_000714	Q02641	CACB1_HUMAN			3	356	-			68					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Nonsense_Mutation	SNP	ENST00000394303.3	37	c.203C>G	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	37	6.074080	0.97256	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.7226	17.5951	0.88009	0.0:0.0:1.0:0.0	.	.	.	.	X	18;68;68;68;21	.	ENSP00000345461:S68X	S	-	2	0	CACNB1	34601341	1.000000	0.71417	0.608000	0.28969	0.960000	0.62799	9.592000	0.98245	2.503000	0.84419	0.585000	0.79938	TCA		0.587	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3				23	38	0	0	0	1	0	23	38		
CNP	1267	broad.mit.edu	37	17	40117264	40117264	+	5'Flank	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:40117264A>G	ENST00000393892.3	+	0	0				TTC25_ENST00000591658.1_RNA|CNP_ENST00000393888.1_5'Flank|CNP_ENST00000472031.1_5'Flank|CNP_ENST00000591072.1_5'Flank	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CAAGATCAGGAGAAACAGGCA	0.498																																						uc002hyj.3		NaN																	0				ovary(1)	1						c.(1780-1782)GGA>GGG		tetratricopeptide repeat domain 25							38.0	40.0	39.0					17																	40117264		1901	4120	6021	SO:0001631	upstream_gene_variant	83538					cytoplasm	protein binding	g.chr17:40117264A>G		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502		17.37:g.40117264A>G	Exception_encountered					TTC25_uc010cxt.2_RNA|CNP_uc002hyk.1_5'Flank|CNP_uc002hyl.1_5'Flank|CNP_uc010wfz.1_5'Flank|CNP_uc002hym.1_5'Flank|CNP_uc010wga.1_5'Flank	p.G594G	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN			11	1871	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)	594						Silent	SNP	ENST00000393892.3	37	c.1782A>G	CCDS11414.2																																																																																				0.498	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2				7	24	0	0	0	1	0	7	24		
TUBG2	27175	broad.mit.edu	37	17	40818472	40818472	+	Silent	SNP	C	C	G	rs561546706		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:40818472C>G	ENST00000251412.7	+	10	1327	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	376					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)		TCAGCGGGCTCATGATGGCCA	0.587																																						uc010wgr.1		NaN																	0				ovary(1)	1						c.(1126-1128)CTC>CTG		tubulin, gamma 2							79.0	81.0	80.0					17																	40818472		2203	4300	6503	SO:0001819	synonymous_variant	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40818472C>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.1128C>G	17.37:g.40818472C>G						TUBG2_uc002iaq.2_Silent_p.L218L|TUBG2_uc002iar.2_Silent_p.L223L|TUBG2_uc002ias.2_Silent_p.L218L|TUBG2_uc002iap.2_Silent_p.L223L	p.L376L	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	10	1384	+		Breast(137;0.00116)	376					A6NDI4|Q32NB2	Silent	SNP	ENST00000251412.7	37	c.1128C>G	CCDS32658.1																																																																																				0.587	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1		NM_016437		14	121	0	0	0	1	0	14	121		
NBR1	4077	broad.mit.edu	37	17	41341649	41341649	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:41341649G>A	ENST00000422280.1	+	8	984	c.525G>A	c.(523-525)caG>caA	p.Q175Q	NBR1_ENST00000542611.1_Silent_p.Q154Q|NBR1_ENST00000389312.4_Silent_p.Q175Q|NBR1_ENST00000589872.1_Silent_p.Q175Q|NBR1_ENST00000590996.1_Silent_p.Q175Q|NBR1_ENST00000341165.6_Silent_p.Q175Q	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	175					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGCTTGAACAGAAATTACATG	0.393																																						uc010czd.2		NaN																	0				skin(1)	1						c.(523-525)CAG>CAA		neighbor of BRCA1 gene 1							91.0	90.0	90.0					17																	41341649		1845	4090	5935	SO:0001819	synonymous_variant	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41341649G>A	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.525G>A	17.37:g.41341649G>A						NBR1_uc010diz.2_Silent_p.Q175Q|NBR1_uc010whu.1_Silent_p.Q175Q|NBR1_uc010whv.1_Silent_p.Q175Q|NBR1_uc010whw.1_Silent_p.Q154Q|NBR1_uc010whx.1_5'Flank	p.Q175Q	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	8	665	+		Breast(137;0.00086)	175					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Silent	SNP	ENST00000422280.1	37	c.525G>A	CCDS45694.1																																																																																				0.393	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899		19	116	0	0	0	1	0	19	116		
C17orf53	78995	broad.mit.edu	37	17	42239247	42239247	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:42239247G>C	ENST00000319977.4	+	10	2128	c.1891G>C	c.(1891-1893)Gat>Cat	p.D631H	C17orf53_ENST00000245382.6_Missense_Mutation_p.W518C|C17orf53_ENST00000585683.1_Missense_Mutation_p.D630H	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	631										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGATGACCTGGATGGACTCCT	0.547																																						uc002ifi.1		NaN																	0					0						c.(1891-1893)GAT>CAT		hypothetical protein LOC78995							167.0	131.0	143.0					17																	42239247		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42239247G>C	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1891G>C	17.37:g.42239247G>C	ENSP00000313500:p.Asp631His					C17orf53_uc010czq.1_Missense_Mutation_p.D630H|C17orf53_uc002ifj.1_Missense_Mutation_p.W518C|C17orf53_uc002ifk.1_RNA	p.D631H	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	10	2076	+		Breast(137;0.0364)|Prostate(33;0.0376)	631					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.1891G>C	CCDS11477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.666320|4.666320	0.88251|0.88251	.|.	.|.	ENSG00000125319|ENSG00000125319	ENST00000319977|ENST00000245382	T|T	0.70749|0.46819	-0.51|0.86	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65954|0.65954	0.2741|0.2741	M|M	0.63428|0.63428	1.95|1.95	0.58432|0.58432	D|D	0.999995|0.999995	D;D|D	0.89917|0.76494	1.0;1.0|0.999	D;D|D	0.97110|0.63033	1.0;1.0|0.91	T|T	0.65417|0.65417	-0.6173|-0.6173	10|9	0.87932|0.59425	D|D	0|0.04	-7.0529|-7.0529	19.012|19.012	0.92877|0.92877	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	630;631|518	A8K7A9;Q8N3J3|Q8N3J3-3	.;CQ053_HUMAN|.	H|C	631|518	ENSP00000313500:D631H|ENSP00000245382:W518C	ENSP00000313500:D631H|ENSP00000245382:W518C	D|W	+|+	1|3	0|0	C17orf53|C17orf53	39594773|39594773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.629000|6.629000	0.74267|0.74267	2.797000|2.797000	0.96272|0.96272	0.561000|0.561000	0.74099|0.74099	GAT|TGG		0.547	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1		NM_024032		18	98	0	0	0	1	0	18	98		
GFAP	2670	broad.mit.edu	37	17	42992744	42992744	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:42992744G>C	ENST00000253408.5	-	1	176	c.111C>G	c.(109-111)ctC>ctG	p.L37L	GFAP_ENST00000586793.1_Silent_p.L37L|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Silent_p.L37L|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	37	Head.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GAGCCAGGGAGAGGCGGGTGC	0.692																																						uc002ihq.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(109-111)CTC>CTG		glial fibrillary acidic protein isoform 1							17.0	22.0	20.0					17																	42992744		2198	4300	6498	SO:0001819	synonymous_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992744G>C	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.111C>G	17.37:g.42992744G>C						GFAP_uc002ihr.2_Silent_p.L37L|GFAP_uc010wjg.1_RNA	p.L37L	NM_002055	NP_002046	P14136	GFAP_HUMAN			1	171	-		Prostate(33;0.0959)	37			Head.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	ENST00000253408.5	37	c.111C>G	CCDS11491.1																																																																																				0.692	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1		NM_002055		11	21	0	0	0	1	0	11	21		
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43345029	43345029	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:43345029C>T	ENST00000585780.1	+	0	2078				MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA					MAP3K14 antisense RNA 1																		AAAGCTCTCTCGGCTGGGCAT	0.607																																						uc002iiw.1		NaN																	0				central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						c.(2068-2070)CCG>CCA		mitogen-activated protein kinase kinase kinase							98.0	106.0	103.0					17																	43345029		1906	4123	6029			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43345029C>T	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43345029C>T						LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Silent_p.P220P|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Silent_p.P274P	p.P690P	NM_003954	NP_003945	Q99558	M3K14_HUMAN			13	2179	-			690						Silent	SNP	ENST00000585780.1	37	c.2070G>A																																																																																					0.607	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1		NR_024434		13	140	0	0	0	1	0	13	140		
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43348526	43348526	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:43348526C>T	ENST00000586450.1	+	0	1886				MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA					MAP3K14 antisense RNA 1																		ACCTTGGCGTCGCAGCTCCTG	0.597											OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iiw.1		NaN																	0				central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						c.(1720-1722)GAC>AAC		mitogen-activated protein kinase kinase kinase							43.0	49.0	47.0					17																	43348526		2152	4259	6411			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43348526C>T	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43348526C>T			OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	915	MAP3K14_uc002iiu.1_Missense_Mutation_p.D104N|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.D158N	p.D574N	NM_003954	NP_003945	Q99558	M3K14_HUMAN			11	1829	-			574			Interaction with ZFP91.|Protein kinase.			Missense_Mutation	SNP	ENST00000586450.1	37	c.1720G>A		.	.	.	.	.	.	.	.	.	.	C	11.73	1.727089	0.30593	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.151538	0.64402	D	0.000017	T	0.33265	0.0857	N	0.11724	0.165	0.31468	N	0.668712	P;P	0.49862	0.929;0.549	B;B	0.42593	0.392;0.218	T	0.33420	-0.9869	8	0.23302	T	0.38	.	17.9007	0.88902	0.0:1.0:0.0:0.0	.	574;104	Q99558;Q6ZMZ1	M3K14_HUMAN;.	N	573;357	.	ENSP00000342059:D573N	D	-	1	0	MAP3K14	40704309	0.761000	0.28439	0.538000	0.28064	0.356000	0.29392	1.820000	0.39032	2.458000	0.83093	0.462000	0.41574	GAC		0.597	MAP3K14-AS1-010	KNOWN	basic	antisense	antisense	OTTHUMT00000450942.1		NR_024434		6	37	0	0	0	1	0	6	37		
PRR15L	79170	broad.mit.edu	37	17	46030598	46030598	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:46030598C>T	ENST00000300557.2	-	2	253	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-6N17.9_ENST00000582262.1_RNA	NM_024320.3	NP_077296.1	Q9BU68	PR15L_HUMAN	proline rich 15-like	1										NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						TTTCAGTCGTCATGGCGCTCC	0.547																																						uc002imp.2		NaN																	0				ovary(1)	1						c.(1-3)ATG>ATA		ATPase family, AAA domain containing 4							68.0	76.0	73.0					17																	46030598		2203	4299	6502	SO:0001582	initiator_codon_variant	79170							g.chr17:46030598C>T	BC002865	CCDS11523.1	17q21.32	2009-11-11	2009-11-11	2009-11-11		ENSG00000167183			28149	protein-coding gene	gene with protein product			"""ATPase family, AAA domain containing 4"""	ATAD4			Standard	NM_024320		Approved	MGC11242	uc002imp.4	Q9BU68		ENST00000300557.2:c.3G>A	17.37:g.46030598C>T	ENSP00000300557:p.Met1Ile						p.M1I	NM_024320	NP_077296	Q9BU68	PR15L_HUMAN			2	120	-			1					D3DTU0	Missense_Mutation	SNP	ENST00000300557.2	37	c.3G>A	CCDS11523.1	.	.	.	.	.	.	.	.	.	.	C	8.755	0.922141	0.17982	.	.	ENSG00000167183	ENST00000300557	.	.	.	5.45	5.45	0.79879	.	0.854771	0.09897	N	0.741589	T	0.78966	0.4367	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.70920	-0.4741	8	0.33940	T	0.23	-0.7029	17.1056	0.86662	0.0:1.0:0.0:0.0	.	1	Q9BU68	PR15L_HUMAN	I	1	.	ENSP00000300557:M1I	M	-	3	0	PRR15L	43385597	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	2.655000	0.46707	2.717000	0.92951	0.561000	0.74099	ATG		0.547	PRR15L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441413.1		NM_024320	Missense_Mutation	61	79	0	0	0	1	0	61	79		
ATP5G1	516	broad.mit.edu	37	17	46973041	46973041	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:46973041C>G	ENST00000393366.2	+	5	424	c.321C>G	c.(319-321)ctC>ctG	p.L107L	ATP5G1_ENST00000503641.1_Silent_p.L98L|ATP5G1_ENST00000506855.1_Silent_p.L81L|ATP5G1_ENST00000513781.1_3'UTR|ATP5G1_ENST00000355938.5_Silent_p.L107L|RP11-463M16.4_ENST00000508743.1_RNA	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	107					ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			liver(1)|lung(1)	2						AGCAGCAGCTCTTCTCCTATG	0.577																																						uc002iog.2		NaN																	0					0						c.(319-321)CTC>CTG		ATP synthase, H+ transporting, mitochondrial F0							210.0	187.0	195.0					17																	46973041		2203	4300	6503	SO:0001819	synonymous_variant	516				ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr17:46973041C>G	D13118	CCDS11539.1	17q21.32	2012-10-12	2010-06-11		ENSG00000159199	ENSG00000159199		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	841	protein-coding gene	gene with protein product		603192	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)"""	ATP5G		8328972	Standard	NM_005175		Approved		uc002ioh.3	P05496	OTTHUMG00000160520	ENST00000393366.2:c.321C>G	17.37:g.46973041C>G						ATP5G1_uc002ioh.2_Silent_p.L107L	p.L107L	NM_005175	NP_005166	P05496	AT5G1_HUMAN			5	455	+			107						Silent	SNP	ENST00000393366.2	37	c.321C>G	CCDS11539.1																																																																																				0.577	ATP5G1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360948.2		NM_005175		111	131	0	0	0	1	0	111	131		
NGFR	4804	broad.mit.edu	37	17	47583714	47583714	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:47583714G>C	ENST00000172229.3	+	3	387	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	NGFR_ENST00000504201.1_5'UTR|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	88					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCGTGCACCGAGTGCGTGGG	0.672																																						uc002ioz.3		NaN																	0				ovary(1)|lung(1)	2						c.(262-264)GAG>CAG		nerve growth factor receptor precursor							23.0	26.0	25.0					17																	47583714		2185	4265	6450	SO:0001583	missense	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47583714G>C	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.262G>C	17.37:g.47583714G>C	ENSP00000172229:p.Glu88Gln						p.E88Q	NM_002507	NP_002498	P08138	TNR16_HUMAN			3	387	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		88			Extracellular (Potential).|TNFR-Cys 2.		B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	c.262G>C	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367545	0.61513	.	.	ENSG00000064300	ENST00000172229	D	0.91295	-2.82	5.39	5.39	0.77823	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.275234	0.41500	D	0.000868	D	0.82843	0.5125	N	0.13043	0.29	0.80722	D	1	B	0.31640	0.333	B	0.35470	0.203	T	0.79701	-0.1693	10	0.12766	T	0.61	-28.4105	15.4147	0.74956	0.0:0.1395:0.8604:0.0	.	88	P08138	TNR16_HUMAN	Q	88	ENSP00000172229:E88Q	ENSP00000172229:E88Q	E	+	1	0	NGFR	44938713	0.751000	0.28327	0.996000	0.52242	0.973000	0.67179	1.123000	0.31308	2.525000	0.85131	0.561000	0.74099	GAG		0.672	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1				7	46	0	0	0	1	0	7	46		
ACSF2	80221	broad.mit.edu	37	17	48540834	48540834	+	Missense_Mutation	SNP	C	C	G	rs539511131		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48540834C>G	ENST00000300441.4	+	8	1071	c.967C>G	c.(967-969)Ctg>Gtg	p.L323V	ACSF2_ENST00000502667.1_Missense_Mutation_p.L310V|ACSF2_ENST00000541920.1_Missense_Mutation_p.L163V|ACSF2_ENST00000504392.1_Missense_Mutation_p.L280V|ACSF2_ENST00000427954.2_Missense_Mutation_p.L348V	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	323					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AATGATGTGTCTGATGTACGG	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19449	0.0		0.0	False		,,,				2504	0.0					uc002iqu.2		NaN																	0					0						c.(967-969)CTG>GTG		acyl-CoA synthetase family member 2 precursor							118.0	95.0	103.0					17																	48540834		2203	4300	6503	SO:0001583	missense	80221				fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	g.chr17:48540834C>G	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.967C>G	17.37:g.48540834C>G	ENSP00000300441:p.Leu323Val					ACSF2_uc010wml.1_Missense_Mutation_p.L280V|ACSF2_uc010wmm.1_Missense_Mutation_p.L348V|ACSF2_uc010wmn.1_Missense_Mutation_p.L310V|ACSF2_uc010wmo.1_Missense_Mutation_p.L163V	p.L323V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		8	1071	+	Breast(11;1.93e-18)		323					B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	c.967C>G	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.451903	0.00175	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	4.8	-9.61	0.00550	AMP-dependent synthetase/ligase (1);	0.867962	0.10435	N	0.675063	T	0.14270	0.0345	N	0.02775	-0.495	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.15484	0.006;0.013;0.006;0.006	T	0.19031	-1.0318	10	0.02654	T	1	-0.5063	2.1386	0.03769	0.4172:0.1568:0.2741:0.1518	.	310;348;280;323	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	V	323;163;280;348;310	ENSP00000300441:L323V;ENSP00000437987:L163V;ENSP00000425964:L280V;ENSP00000401831:L348V;ENSP00000421884:L310V	ENSP00000300441:L323V	L	+	1	2	ACSF2	45895833	0.002000	0.14202	0.000000	0.03702	0.015000	0.08874	-1.289000	0.02780	-2.647000	0.00426	-1.053000	0.02334	CTG		0.587	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3		NM_025149		30	40	0	0	0	1	0	30	40		
MYCBPAP	84073	broad.mit.edu	37	17	48601143	48601143	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48601143G>A	ENST00000323776.5	+	12	1924	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E551K	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GAAAGTACTGGAGGTAAGGGA	0.527																																						uc010wmr.1		NaN																	0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(1762-1764)GAG>AAG		Myc-binding protein-associated protein							42.0	42.0	42.0					17																	48601143		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48601143G>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1762G>A	17.37:g.48601143G>A	ENSP00000323184:p.Glu588Lys					MYCBPAP_uc002iqz.2_RNA	p.E588K	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		12	1924	+	Breast(11;1.23e-18)		551						Missense_Mutation	SNP	ENST00000323776.5	37	c.1762G>A	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006953	0.35415	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.41065	1.01;1.01	5.61	2.33	0.28932	.	0.270733	0.41001	N	0.000980	T	0.28896	0.0717	L	0.38649	1.16	0.30316	N	0.788017	B	0.19583	0.037	B	0.22386	0.039	T	0.16041	-1.0416	10	0.33940	T	0.23	-23.1596	6.606	0.22726	0.1574:0.2693:0.5733:0.0	.	551	Q8TBZ2	MYBPP_HUMAN	K	588;551	ENSP00000323184:E588K;ENSP00000397209:E551K	ENSP00000323184:E588K	E	+	1	0	MYCBPAP	45956142	0.998000	0.40836	0.981000	0.43875	0.389000	0.30415	0.225000	0.17757	0.635000	0.30488	0.563000	0.77884	GAG		0.527	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1		NM_032133		8	36	0	0	0	1	0	8	36		
EPN3	55040	broad.mit.edu	37	17	48619216	48619216	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48619216C>T	ENST00000268933.3	+	10	2176	c.1597C>T	c.(1597-1599)Ccg>Tcg	p.P533S	EPN3_ENST00000537145.1_Missense_Mutation_p.P561S|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	533	3 X 3 AA repeats of N-P-F.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCTCAGCGCTCCGTCCCCCAC	0.692																																						uc002ira.3		NaN																	0				ovary(1)	1						c.(1597-1599)CCG>TCG		epsin 3							24.0	29.0	27.0					17																	48619216		2203	4300	6503	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48619216C>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1597C>T	17.37:g.48619216C>T	ENSP00000268933:p.Pro533Ser					SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.P561S|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.P506S	p.P533S	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		10	2032	+	Breast(11;1.23e-18)		533			3 X 3 AA repeats of N-P-F.		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.1597C>T	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322569	0.60634	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145	T;T	0.30182	1.54;1.54	5.13	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.57536	1.79	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.991	D;D;P	0.69307	0.919;0.963;0.855	T	0.34502	-0.9826	10	0.26408	T	0.33	-6.6339	13.3507	0.60601	0.0:0.9221:0.0:0.0779	.	561;561;533	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	S	533;561;561	ENSP00000268933:P533S;ENSP00000439512:P561S	ENSP00000268933:P533S	P	+	1	0	EPN3	45974215	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	5.591000	0.67536	1.170000	0.42753	0.491000	0.48974	CCG		0.692	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1		NM_017957		8	34	0	0	0	1	0	8	34		
ABCC3	8714	broad.mit.edu	37	17	48750880	48750880	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48750880C>T	ENST00000285238.8	+	19	2540	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	820	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AGACAGACTTCATCATTGTGC	0.607																																						uc002isl.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(2458-2460)TTC>TTT		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						134.0	108.0	117.0					17																	48750880		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48750880C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2460C>T	17.37:g.48750880C>T							p.F820F	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		19	2540	+			820			ABC transporter 1.|Cytoplasmic (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.2460C>T	CCDS32681.1																																																																																				0.607	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2		NM_020038		8	79	0	0	0	1	0	8	79		
MBTD1	54799	broad.mit.edu	37	17	49281254	49281254	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:49281254C>G	ENST00000586178.1	-	8	980	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q	MBTD1_ENST00000415868.1_Missense_Mutation_p.E213Q|MBTD1_ENST00000376381.2_Missense_Mutation_p.E213Q	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	213					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGTCATTTTCAAATCCTTCA	0.368																																						uc002itr.3		NaN																	0				ovary(2)	2						c.(637-639)GAA>CAA		mbt domain containing 1							158.0	161.0	160.0					17																	49281254		2203	4300	6503	SO:0001583	missense	54799				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49281254C>G	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.637G>C	17.37:g.49281254C>G	ENSP00000468304:p.Glu213Gln					MBTD1_uc002itp.3_Missense_Mutation_p.E49Q|MBTD1_uc002itq.3_Missense_Mutation_p.E213Q	p.E213Q	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		8	981	-			213			MBT 1.		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	c.637G>C	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	c	18.38	3.610881	0.66558	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.48836	0.8;0.8	5.32	5.32	0.75619	.	0.138889	0.64402	D	0.000005	T	0.54565	0.1866	L	0.43152	1.355	0.47819	D	0.999523	D;B;P	0.54207	0.965;0.16;0.535	P;B;B	0.53490	0.727;0.086;0.381	T	0.46373	-0.9196	10	0.28530	T	0.3	.	19.1004	0.93272	0.0:1.0:0.0:0.0	.	213;213;49	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	Q	213	ENSP00000403946:E213Q;ENSP00000365561:E213Q	ENSP00000365561:E213Q	E	-	1	0	MBTD1	46636253	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.509000	0.84616	0.627000	0.83407	GAA		0.368	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1				106	140	0	0	0	1	0	106	140		
STXBP4	252983	broad.mit.edu	37	17	53218719	53218719	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:53218719A>G	ENST00000376352.2	+	17	1745	c.1538A>G	c.(1537-1539)tAc>tGc	p.Y513C	STXBP4_ENST00000434978.2_Missense_Mutation_p.Y491C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	513	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GGAATCAAGTACTTCATCAAG	0.358																																						uc002iuf.1		NaN																	0				ovary(1)	1						c.(1537-1539)TAC>TGC		syntaxin binding protein 4							101.0	101.0	101.0					17																	53218719		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53218719A>G	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1538A>G	17.37:g.53218719A>G	ENSP00000365530:p.Tyr513Cys					STXBP4_uc010dcd.1_Missense_Mutation_p.Y491C	p.Y513C	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN			17	1745	+			513			WW.		Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.1538A>G	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	A	17.29	3.351894	0.61183	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	D;D	0.96427	-4.01;-4.01	5.65	5.65	0.86999	WW/Rsp5/WWP (6);	0.153716	0.44097	D	0.000499	D	0.98473	0.9491	M	0.93197	3.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.967;0.985	D	0.99482	1.0948	10	0.87932	D	0	-6.4824	13.8738	0.63638	1.0:0.0:0.0:0.0	.	491;513	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	C	513;491	ENSP00000365530:Y513C;ENSP00000391087:Y491C	ENSP00000365530:Y513C	Y	+	2	0	STXBP4	50573718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.527000	0.73803	2.371000	0.80710	0.533000	0.62120	TAC		0.358	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1		NM_178509		12	70	0	0	0	1	0	12	70		
EPX	8288	broad.mit.edu	37	17	56270423	56270423	+	Missense_Mutation	SNP	C	C	T	rs375820407		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:56270423C>T	ENST00000225371.5	+	2	211	c.101C>T	c.(100-102)tCg>tTg	p.S34L		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	34					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GTGGAGACCTCGGTCCTGCGA	0.597																																						uc002ivq.2		NaN																	0				ovary(2)	2						c.(100-102)TCG>TTG		eosinophil peroxidase preproprotein							111.0	113.0	112.0					17																	56270423		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270423C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.101C>T	17.37:g.56270423C>T	ENSP00000225371:p.Ser34Leu						p.S34L	NM_000502	NP_000493	P11678	PERE_HUMAN			2	187	+			34					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.101C>T	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229515	0.58777	.	.	ENSG00000121053	ENST00000225371	T	0.70986	-0.53	5.13	5.13	0.70059	.	0.272880	0.29602	N	0.011700	T	0.67239	0.2872	M	0.71206	2.165	0.31312	N	0.687064	P	0.51240	0.943	B	0.37144	0.242	T	0.77781	-0.2459	10	0.66056	D	0.02	-9.025	14.4963	0.67691	0.0:1.0:0.0:0.0	.	34	P11678	PERE_HUMAN	L	34	ENSP00000225371:S34L	ENSP00000225371:S34L	S	+	2	0	EPX	53625422	0.001000	0.12720	0.806000	0.32338	0.144000	0.21451	1.339000	0.33885	2.566000	0.86566	0.543000	0.68304	TCG		0.597	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1		NM_000502		66	148	0	0	0	1	0	66	148		
SKA2	348235	broad.mit.edu	37	17	57189697	57189697	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:57189697G>T	ENST00000330137.7	-	4	412	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	SKA2_ENST00000583927.1_5'UTR|SKA2_ENST00000578105.1_Missense_Mutation_p.L74M|AC099850.1_ENST00000451775.1_RNA|SKA2_ENST00000583380.1_Missense_Mutation_p.H109Q|SKA2_ENST00000581068.1_Missense_Mutation_p.L44M|SKA2_ENST00000437036.2_Missense_Mutation_p.H75Q|SKA2_ENST00000580541.1_Missense_Mutation_p.H46Q	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	103					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			lung(4)	4						TCTTTAGTCAGTGGTGACAGC	0.323																																						uc002ixd.2		NaN																	0					0						c.(307-309)CTG>ATG		spindle and KT associated 2 isoform 1							67.0	64.0	65.0					17																	57189697		1804	4076	5880	SO:0001583	missense	348235				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr17:57189697G>T	BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"""family with sequence similarity 33, member A"""	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.307C>A	17.37:g.57189697G>T	ENSP00000333433:p.Leu103Met					uc002ixb.2_Intron|SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_Missense_Mutation_p.H75Q|SKA2_uc002ixe.2_RNA	p.L103M	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN			4	583	-			103					A6NIL3|B3KPL3|E9PCB8	Missense_Mutation	SNP	ENST00000330137.7	37	c.307C>A	CCDS45747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.53|10.53	1.374955|1.374955	0.24857|0.24857	.|.	.|.	ENSG00000182628|ENSG00000182628	ENST00000437036|ENST00000330137	.|T	.|0.32272	.|1.46	5.8|5.8	-1.0|-1.0	0.10196|0.10196	.|.	.|0.242522	.|0.35708	.|N	.|0.003029	T|T	0.36826|0.36826	0.0981|0.0981	.|.	.|.	.|.	0.20403|0.20403	N|N	0.999901|0.999901	B|D	0.19583|0.63880	0.037|0.993	B|P	0.17433|0.59487	0.018|0.858	T|T	0.24012|0.24012	-1.0172|-1.0172	7|9	0.87932|0.62326	D|D	0|0.03	.|.	2.0016|2.0016	0.03468|0.03468	0.2813:0.1224:0.47:0.1262|0.2813:0.1224:0.47:0.1262	.|.	75|103	E9PCB8|Q8WVK7	.|SKA2_HUMAN	Q|M	75|103	.|ENSP00000333433:L103M	ENSP00000411231:H75Q|ENSP00000333433:L103M	H|L	-|-	3|1	2|2	SKA2|SKA2	54544479|54544479	1.000000|1.000000	0.71417|0.71417	0.310000|0.310000	0.25168|0.25168	0.959000|0.959000	0.62525|0.62525	0.766000|0.766000	0.26560|0.26560	-0.358000|-0.358000	0.08162|0.08162	-0.889000|-0.889000	0.02933|0.02933	CAC|CTG		0.323	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445939.1		NM_182620		27	48	1	0	1.42536e-11	1	1.59215e-11	27	48		
USP32	84669	broad.mit.edu	37	17	58288742	58288742	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:58288742G>C	ENST00000300896.4	-	20	2507	c.2313C>G	c.(2311-2313)ctC>ctG	p.L771L	USP32_ENST00000592339.1_Silent_p.L441L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	771	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTACCTGTTGAGTTCATAAA	0.408																																						uc002iyo.1		NaN																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(2311-2313)CTC>CTG		ubiquitin specific protease 32							140.0	130.0	133.0					17																	58288742		2202	4299	6501	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58288742G>C	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2313C>G	17.37:g.58288742G>C						USP32_uc002iyn.1_Silent_p.L441L	p.L771L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		20	2599	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		771					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.2313C>G	CCDS32697.1																																																																																				0.408	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2		NM_032582		20	313	0	0	0	1	0	20	313		
TBX2	6909	broad.mit.edu	37	17	59479190	59479190	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:59479190G>A	ENST00000240328.3	+	2	822	c.541G>A	c.(541-543)Gag>Aag	p.E181K	RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	181					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						GGCCGACCCTGAGATGCCCAA	0.577																																					GBM(3;187 253 11467 14965 23079)	uc010wox.1		NaN																	0					0						c.(541-543)GAG>AAG		T-box 2							79.0	64.0	69.0					17																	59479190		2203	4300	6503	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59479190G>A	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.541G>A	17.37:g.59479190G>A	ENSP00000240328:p.Glu181Lys					TBX2_uc002ize.2_Missense_Mutation_p.E171K|TBX2_uc002izg.2_Missense_Mutation_p.E27K	p.E181K	NM_005994	NP_005985	Q13207	TBX2_HUMAN			2	822	+			181			T-box.		Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.541G>A	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	G	37	6.157532	0.97334	.	.	ENSG00000121068	ENST00000240328;ENST00000424871	D	0.87571	-2.27	4.92	4.92	0.64577	p53-like transcription factor, DNA-binding (1);	0.102052	0.64402	D	0.000003	D	0.92701	0.7680	M	0.83223	2.63	0.80722	D	1	P;P	0.47253	0.823;0.892	P;P	0.56434	0.678;0.798	D	0.93648	0.6970	10	0.72032	D	0.01	.	17.2793	0.87124	0.0:0.0:1.0:0.0	.	181;118	Q13207;Q59FT1	TBX2_HUMAN;.	K	181;156	ENSP00000240328:E181K	ENSP00000240328:E181K	E	+	1	0	TBX2	56833972	1.000000	0.71417	0.952000	0.39060	0.980000	0.70556	6.450000	0.73477	2.551000	0.86045	0.561000	0.74099	GAG		0.577	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2		NM_005994		9	130	0	0	0	1	0	9	130		
BRIP1	83990	broad.mit.edu	37	17	59878667	59878667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:59878667C>T	ENST00000259008.2	-	8	1354	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	BRIP1_ENST00000577598.1_Missense_Mutation_p.D363N	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	363	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AATATGATGTCAGCATCTTGT	0.408			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NaN	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(1087-1089)GAC>AAC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							255.0	245.0	249.0					17																	59878667		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59878667C>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1087G>A	17.37:g.59878667C>T	ENSP00000259008:p.Asp363Asn						p.D363N	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			8	1228	-			363			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.1087G>A	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702635	0.48307	.	.	ENSG00000136492	ENST00000259008	T	0.73152	-0.72	5.13	4.15	0.48705	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.294628	0.34802	N	0.003664	T	0.67534	0.2903	L	0.41824	1.3	0.36412	D	0.863811	P	0.47106	0.89	P	0.47299	0.543	T	0.72398	-0.4306	9	.	.	.	-1.4034	14.8654	0.70412	0.0:0.8466:0.1534:0.0	.	363	Q9BX63	FANCJ_HUMAN	N	363	ENSP00000259008:D363N	.	D	-	1	0	BRIP1	57233449	0.999000	0.42202	0.973000	0.42090	0.995000	0.86356	2.759000	0.47573	1.270000	0.44297	0.563000	0.77884	GAC		0.408	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1		NM_032043		41	360	0	0	0	1	0	41	360		
STRADA	92335	broad.mit.edu	37	17	61787958	61787958	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:61787958G>A	ENST00000336174.6	-	8	586	c.474C>T	c.(472-474)ctC>ctT	p.L158L	STRADA_ENST00000375840.4_Silent_p.L100L|STRADA_ENST00000580039.1_5'UTR|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000582137.1_Silent_p.L129L|STRADA_ENST00000579340.1_Silent_p.L100L|STRADA_ENST00000245865.5_Silent_p.L100L|STRADA_ENST00000447001.3_Silent_p.L114L|STRADA_ENST00000392950.4_Silent_p.L121L	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GTGTACAGATGAGATCTTTTG	0.493																																						uc002jbm.2		NaN																	0				ovary(1)	1						c.(472-474)CTC>CTT		STE20-related kinase adaptor alpha isoform 1							97.0	87.0	90.0					17																	61787958		2203	4300	6503	SO:0001819	synonymous_variant	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61787958G>A	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.474C>T	17.37:g.61787958G>A						STRADA_uc002jbn.2_Silent_p.L100L|STRADA_uc002jbo.2_Silent_p.L121L|STRADA_uc002jbp.2_Silent_p.L121L|STRADA_uc002jbq.2_Silent_p.L100L|STRADA_uc010wpq.1_Silent_p.L114L|STRADA_uc010wpr.1_Silent_p.L129L|STRADA_uc010ddw.2_Silent_p.L129L|STRADA_uc002jbr.2_Silent_p.L100L	p.L158L	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN			8	633	-			158			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Silent	SNP	ENST00000336174.6	37	c.474C>T	CCDS32703.1																																																																																				0.493	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1				29	128	0	0	0	1	0	29	128		
DDX42	11325	broad.mit.edu	37	17	61869914	61869914	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:61869914G>C	ENST00000578681.1	+	4	965	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	DDX42_ENST00000359353.5_Missense_Mutation_p.E3Q|DDX42_ENST00000457800.2_Missense_Mutation_p.E122Q|DDX42_ENST00000389924.2_Missense_Mutation_p.E122Q|DDX42_ENST00000583590.1_Missense_Mutation_p.E122Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	122					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATTCATGGCTGAAGTGGAGGC	0.373																																						uc002jbu.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)	5						c.(364-366)GAA>CAA		DEAD box polypeptide 42 protein							106.0	97.0	100.0					17																	61869914		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61869914G>C	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.364G>C	17.37:g.61869914G>C	ENSP00000464050:p.Glu122Gln					DDX42_uc002jbv.2_Missense_Mutation_p.E122Q|DDX42_uc002jbw.1_5'UTR	p.E122Q	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			4	621	+			122			Potential.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.364G>C	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444246	0.43429	.	.	ENSG00000198231	ENST00000389924;ENST00000457800	T;T	0.20200	2.09;2.09	5.55	4.57	0.56435	.	1.446210	0.04010	N	0.297961	T	0.22085	0.0532	L	0.35854	1.095	0.58432	D	0.999996	B	0.28880	0.226	B	0.22601	0.04	T	0.04165	-1.0972	10	0.38643	T	0.18	-20.0719	13.9153	0.63893	0.0746:0.0:0.9254:0.0	.	122	Q86XP3	DDX42_HUMAN	Q	122	ENSP00000374574:E122Q;ENSP00000390121:E122Q	ENSP00000374574:E122Q	E	+	1	0	DDX42	59223646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.616000	0.74205	2.611000	0.88343	0.591000	0.81541	GAA		0.373	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1		NM_007372		30	262	0	0	0	1	0	30	262		
ARSG	22901	broad.mit.edu	37	17	66352862	66352862	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:66352862C>A	ENST00000448504.2	+	6	1417	c.621C>A	c.(619-621)ctC>ctA	p.L207L	ARSG_ENST00000452479.2_Silent_p.L43L|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	207					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGAAAACCTCAACATTGTGG	0.502																																						uc002jhc.2		NaN																	0				ovary(1)	1						c.(619-621)CTC>CTA		Arylsulfatase G precursor							96.0	74.0	82.0					17																	66352862		2203	4300	6503	SO:0001819	synonymous_variant	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66352862C>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.621C>A	17.37:g.66352862C>A						ARSG_uc002jhb.1_Silent_p.L43L	p.L207L	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1417	+			207					Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	c.621C>A	CCDS11676.1																																																																																				0.502	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1		NM_014960		33	46	1	0	2.2171e-23	1	2.55585e-23	33	46		
ABCA9	10350	broad.mit.edu	37	17	67024685	67024685	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:67024685G>C	ENST00000340001.4	-	12	1817	c.1606C>G	c.(1606-1608)Cca>Gca	p.P536A	ABCA9_ENST00000370732.2_Missense_Mutation_p.P536A|ABCA9_ENST00000453985.2_Missense_Mutation_p.P536A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	536	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCTGATGTTGGAACTGACAAC	0.438																																						uc002jhu.2		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1606-1608)CCA>GCA		ATP-binding cassette, sub-family A, member 9							118.0	108.0	111.0					17																	67024685		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67024685G>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1606C>G	17.37:g.67024685G>C	ENSP00000342216:p.Pro536Ala					ABCA9_uc010dez.2_Missense_Mutation_p.P536A	p.P536A	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			12	1749	-	Breast(10;1.47e-12)		536			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1606C>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583973	0.65992	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.47177	0.85;0.85	5.13	5.13	0.70059	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.152498	0.30085	N	0.010454	T	0.66509	0.2796	M	0.63208	1.945	0.45464	D	0.998439	D;P	0.71674	0.998;0.95	D;P	0.71414	0.973;0.789	T	0.69049	-0.5248	10	0.72032	D	0.01	.	17.4897	0.87700	0.0:0.0:1.0:0.0	.	536;536	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	A	536;519;536;531	ENSP00000342216:P536A;ENSP00000359767:P536A	ENSP00000342216:P536A	P	-	1	0	ABCA9	64536280	1.000000	0.71417	0.847000	0.33407	0.894000	0.52154	4.160000	0.58164	2.550000	0.86006	0.591000	0.81541	CCA		0.438	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2		NM_172386		26	82	0	0	0	1	0	26	82		
KCNJ2	3759	broad.mit.edu	37	17	68171223	68171223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:68171223G>T	ENST00000243457.3	+	2	426	c.43G>T	c.(43-45)Gaa>Taa	p.E15*	KCNJ2_ENST00000535240.1_Nonsense_Mutation_p.E15*	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	15					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CGTCTCTTCAGAAGAAGACGG	0.517																																						uc010dfg.2		NaN																	0					0						c.(43-45)GAA>TAA		potassium inwardly-rectifying channel J2							71.0	68.0	69.0					17																	68171223		2203	4300	6503	SO:0001587	stop_gained	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171223G>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.43G>T	17.37:g.68171223G>T	ENSP00000243457:p.Glu15*					KCNJ2_uc002jir.2_Nonsense_Mutation_p.E15*	p.E15*	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	444	+	Breast(10;1.64e-08)		15			Cytoplasmic (By similarity).		O15110|P48049	Nonsense_Mutation	SNP	ENST00000243457.3	37	c.43G>T	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	38	6.930278	0.97944	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	.	.	.	5.79	5.79	0.91817	.	0.097108	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	.	E	+	1	0	KCNJ2	65682818	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	9.869000	0.99810	2.731000	0.93534	0.650000	0.86243	GAA		0.517	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1		NM_000891		16	64	1	0	1.52009e-12	1	1.71316e-12	16	64		
RAB37	326624	broad.mit.edu	37	17	72739323	72739323	+	Missense_Mutation	SNP	G	G	A	rs527644258		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:72739323G>A	ENST00000392613.5	+	4	358	c.302G>A	c.(301-303)aGa>aAa	p.R101K	RAB37_ENST00000392615.5_Missense_Mutation_p.R69K|RAB37_ENST00000340415.3_Missense_Mutation_p.R94K|RAB37_ENST00000392614.4_Missense_Mutation_p.R106K|RAB37_ENST00000528438.1_Missense_Mutation_p.R74K|RAB37_ENST00000392612.3_Missense_Mutation_p.R64K|RAB37_ENST00000402449.4_Missense_Mutation_p.R94K|RAB37_ENST00000392610.1_Missense_Mutation_p.R101K	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	101					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GCTTATTACAGAGATGCTCAG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17748	0.001		0.0	False		,,,				2504	0.0					uc002jlk.2		NaN																	0				ovary(1)	1						c.(301-303)AGA>AAA		RAB37, member RAS oncogene family isoform 2							175.0	156.0	163.0					17																	72739323		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72739323G>A	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.302G>A	17.37:g.72739323G>A	ENSP00000376389:p.Arg101Lys					RAB37_uc002jlc.2_Missense_Mutation_p.R94K|RAB37_uc010dfu.2_Missense_Mutation_p.R94K|RAB37_uc002jld.2_Missense_Mutation_p.R94K|RAB37_uc010wrb.1_Missense_Mutation_p.R69K|RAB37_uc010wrc.1_Missense_Mutation_p.R106K|RAB37_uc010wrd.1_Missense_Mutation_p.R69K|RAB37_uc010wre.1_Missense_Mutation_p.R64K|RAB37_uc002jll.3_RNA	p.R101K	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN			4	358	+			101					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.302G>A	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577304	0.86645	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392612;ENST00000392610	T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	M	0.64260	1.97	0.58432	D	0.999997	D;D;D;D;P;D;D	0.71674	0.972;0.996;0.991;0.998;0.876;0.979;0.996	P;D;D;D;B;P;D	0.68943	0.899;0.929;0.929;0.926;0.436;0.884;0.961	D	0.89317	0.3637	10	0.87932	D	0	.	17.2219	0.86960	0.0:0.0:1.0:0.0	.	64;69;106;94;101;94;94	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2;A8MUU7	.;.;.;.;RAB37_HUMAN;.;.	K	94;94;94;94;74;69;106;101;101;64;101	ENSP00000341354:R94K;ENSP00000383934:R94K;ENSP00000432086:R74K;ENSP00000376391:R69K;ENSP00000376390:R106K;ENSP00000376389:R101K;ENSP00000376388:R64K;ENSP00000376387:R101K	ENSP00000341354:R94K	R	+	2	0	RAB37	70250918	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.076000	0.94009	2.357000	0.79964	0.650000	0.86243	AGA		0.602	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2		NM_175738		71	116	0	0	0	1	0	71	116		
SUMO2	6613	broad.mit.edu	37	17	73164440	73164440	+	Silent	SNP	G	G	C	rs55895120		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73164440G>C	ENST00000578238.1	-	4	442	c.153C>G	c.(151-153)gtC>gtG	p.V51V	SUMO2_ENST00000314523.7_Silent_p.V70V|SUMO2_ENST00000420826.2_Silent_p.V94V|RP11-649A18.7_ENST00000580169.1_lincRNA					small ubiquitin-like modifier 2											NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CTTTTCAGTAGACACCTCCCG	0.378																																						uc002jne.2		NaN																	0					0						c.(280-282)GTC>GTG		SMT3 suppressor of mif two 3 homolog 2 isoform a							48.0	42.0	44.0					17																	73164440		1850	4104	5954	SO:0001819	synonymous_variant	6613				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding	g.chr17:73164440G>C		CCDS45773.1, CCDS45774.1	17q25	2013-06-05	2013-06-05	2004-05-19	ENSG00000188612	ENSG00000188612			11125	protein-coding gene	gene with protein product		603042	"""SMT3 (suppressor of mif two 3, yeast) homolog 2"", ""SMT3 suppressor of mif two 3 homolog 2 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)"""	SMT3H2		8630065	Standard	NM_006937		Approved	SMT3B	uc002jne.3	P61956		ENST00000578238.1:c.153C>G	17.37:g.73164440G>C						SUMO2_uc002jnf.2_Silent_p.V70V	p.V94V	NM_006937	NP_008868	P61956	SUMO2_HUMAN			4	451	-	all_lung(278;0.14)|Lung NSC(278;0.168)		94			Ubiquitin-like.			Silent	SNP	ENST00000578238.1	37	c.282C>G																																																																																					0.378	SUMO2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000446616.1		NM_006937		7	27	0	0	0	1	0	7	27		
NUP85	79902	broad.mit.edu	37	17	73204648	73204648	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73204648G>C	ENST00000245544.4	+	2	131	c.60G>C	c.(58-60)aaG>aaC	p.K20N	NUP85_ENST00000579298.1_Missense_Mutation_p.K20N|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000541827.1_Intron	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	20					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ATTCCAAGAAGAACCAAATGT	0.343																																						uc002jng.1		NaN																	0				ovary(1)	1						c.(58-60)AAG>AAC		nucleoporin 85							173.0	191.0	185.0					17																	73204648		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73204648G>C	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.60G>C	17.37:g.73204648G>C	ENSP00000245544:p.Lys20Asn					NUP85_uc010dgd.1_Missense_Mutation_p.K20N|NUP85_uc010wrv.1_Intron	p.K20N	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		2	320	+	all_lung(278;0.14)|Lung NSC(278;0.168)		20					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.60G>C	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	6.307	0.424802	0.11987	.	.	ENSG00000125450	ENST00000245544	.	.	.	4.78	2.78	0.32641	.	0.412335	0.28354	N	0.015648	T	0.42765	0.1217	L	0.38531	1.155	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16958	-1.0385	9	0.22706	T	0.39	-13.5873	9.2458	0.37525	0.1711:0.0:0.8289:0.0	.	20	Q9BW27	NUP85_HUMAN	N	20	.	ENSP00000245544:K20N	K	+	3	2	NUP85	70716243	1.000000	0.71417	0.989000	0.46669	0.001000	0.01503	2.529000	0.45632	0.545000	0.28902	-0.253000	0.11424	AAG		0.343	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1		NM_024844		32	271	0	0	0	1	0	32	271		
SLC25A19	60386	broad.mit.edu	37	17	73282415	73282415	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73282415C>A	ENST00000402418.3	-	2	1167	c.258G>T	c.(256-258)caG>caT	p.Q86H	SLC25A19_ENST00000416858.2_Missense_Mutation_p.Q86H|SLC25A19_ENST00000375261.4_Missense_Mutation_p.Q86H|SLC25A19_ENST00000320362.3_Missense_Mutation_p.Q86H|SLC25A19_ENST00000442286.2_Missense_Mutation_p.Q86H|SLC25A19_ENST00000580994.1_Missense_Mutation_p.Q86H			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	86					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TGGAGAGAATCTGAGCTGGGA	0.592																																						uc002jns.3		NaN																	0				ovary(1)	1						c.(256-258)CAG>CAT		solute carrier family 25, member 19							126.0	128.0	127.0					17																	73282415		2203	4300	6503	SO:0001583	missense	60386					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	g.chr17:73282415C>A		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.258G>T	17.37:g.73282415C>A	ENSP00000385312:p.Gln86His					SLC25A19_uc010dge.2_Missense_Mutation_p.Q86H|SLC25A19_uc002jnv.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnu.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnw.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnt.3_Missense_Mutation_p.Q86H	p.Q86H	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		2	1168	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		86			Solcar 1.		E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	37	c.258G>T	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238949	0.39598	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.95	2.91	0.33838	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.90082	3.085	0.37026	D	0.896468	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90958	0.4810	10	0.66056	D	0.02	-24.3573	11.2136	0.48813	0.0:0.7987:0.0:0.2013	.	86;86	E9PF74;Q9HC21	.;TPC_HUMAN	H	86	ENSP00000397818:Q86H;ENSP00000402202:Q86H;ENSP00000319574:Q86H;ENSP00000385312:Q86H;ENSP00000364410:Q86H	ENSP00000319574:Q86H	Q	-	3	2	SLC25A19	70794010	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	2.417000	0.44653	0.872000	0.35775	0.655000	0.94253	CAG		0.592	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1		NM_021734		24	153	1	0	1.96895e-08	1	2.13684e-08	24	153		
CCDC40	55036	broad.mit.edu	37	17	78059852	78059852	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:78059852G>A	ENST00000397545.4	+	14	2313	c.2286G>A	c.(2284-2286)ctG>ctA	p.L762L	CCDC40_ENST00000374877.3_Silent_p.L762L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	762					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGCAAGCTGATCGACGAGC	0.582																																						uc010dht.2		NaN																	0				ovary(3)	3						c.(2284-2286)CTG>CTA		coiled-coil domain containing 40							55.0	62.0	60.0					17																	78059852		2026	4158	6184	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78059852G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2286G>A	17.37:g.78059852G>A						CCDC40_uc002jxm.3_Silent_p.L545L|CCDC40_uc002jxn.3_Silent_p.L158L	p.L762L	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		14	2313	+	all_neural(118;0.167)		762			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.2286G>A	CCDS42395.1																																																																																				0.582	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2		XM_371082		18	83	0	0	0	1	0	18	83		
SLC38A10	124565	broad.mit.edu	37	17	79220394	79220394	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:79220394C>T	ENST00000374759.3	-	16	2705	c.2322G>A	c.(2320-2322)gaG>gaA	p.E774E		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	774					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAGGCAGATTCTCCACCGTCT	0.652																																						uc002jzz.1		NaN																	0				pancreas(1)|skin(1)	2						c.(2320-2322)GAG>GAA		solute carrier family 38, member 10 isoform a							40.0	45.0	43.0					17																	79220394		1983	4109	6092	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79220394C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2322G>A	17.37:g.79220394C>T						SLC38A10_uc002jzy.1_Silent_p.E692E	p.E774E	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	2697	-	all_neural(118;0.0804)|Melanoma(429;0.242)		774					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.2322G>A	CCDS42397.1																																																																																				0.652	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1		NM_138570		14	70	0	0	0	1	0	14	70		
FASN	2194	broad.mit.edu	37	17	80040026	80040026	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80040026C>T	ENST00000306749.2	-	36	6240	c.6022G>A	c.(6022-6024)Gag>Aag	p.E2008K	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2008	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGGCACGCCTCTCGGGTCACC	0.627																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2		NaN																	0				central_nervous_system(1)	1						c.(6022-6024)GAG>AAG		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						82.0	83.0	83.0					17																	80040026		2203	4299	6502	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80040026C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6022G>A	17.37:g.80040026C>T	ENSP00000304592:p.Glu2008Lys					FASN_uc002kdv.1_RNA	p.E2008K	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		36	6139	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2008			Beta-ketoacyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.6022G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	4.912	0.169427	0.09339	.	.	ENSG00000169710	ENST00000306749	T	0.40756	1.02	4.76	4.76	0.60689	Polyketide synthase/Fatty acid synthase, KR (1);NAD(P)-binding domain (1);	0.373864	0.29624	N	0.011627	T	0.19406	0.0466	N	0.11427	0.14	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.21655	-1.0239	10	0.07482	T	0.82	-25.6063	8.0494	0.30568	0.0:0.7414:0.1639:0.0947	.	2008	P49327	FAS_HUMAN	K	2008	ENSP00000304592:E2008K	ENSP00000304592:E2008K	E	-	1	0	FASN	77633315	0.966000	0.33281	0.842000	0.33263	0.529000	0.34654	1.473000	0.35387	2.181000	0.69327	0.313000	0.20887	GAG		0.627	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1		NM_004104		9	42	0	0	0	1	0	9	42		
UTS2R	2837	broad.mit.edu	37	17	80332454	80332454	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80332454C>A	ENST00000313135.2	+	1	302	c.254C>A	c.(253-255)tCc>tAc	p.S85Y		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	85					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GCGGTGGCCTCCATGTACGTC	0.652																																						uc010wvl.1		NaN																	0				breast(1)	1						c.(253-255)TCC>TAC		urotensin 2 receptor							48.0	34.0	39.0					17																	80332454		2201	4299	6500	SO:0001583	missense	2837					integral to membrane|plasma membrane		g.chr17:80332454C>A	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.254C>A	17.37:g.80332454C>A	ENSP00000323516:p.Ser85Tyr						p.S85Y	NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		1	254	+	Breast(20;0.00106)|all_neural(118;0.0804)		85			Cytoplasmic (Potential).		B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	c.254C>A	CCDS11810.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162431	0.78226	.	.	ENSG00000181408	ENST00000313135	T	0.39406	1.08	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.064368	0.64402	D	0.000005	T	0.71005	0.3289	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.78833	-0.2048	10	0.87932	D	0	.	17.2791	0.87123	0.0:1.0:0.0:0.0	.	85	Q9UKP6	UR2R_HUMAN	Y	85	ENSP00000323516:S85Y	ENSP00000323516:S85Y	S	+	2	0	UTS2R	77925743	1.000000	0.71417	0.851000	0.33527	0.573000	0.36030	7.369000	0.79578	2.372000	0.80975	0.655000	0.94253	TCC		0.652	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1		NM_018949		4	11	1	0	0.150653	1	0.151374	4	11		
HEXDC	284004	broad.mit.edu	37	17	80377757	80377757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80377757G>A	ENST00000327949.9	+	1	93	c.82G>A	c.(82-84)Gag>Aag	p.E28K	Y_RNA_ENST00000364369.1_RNA|HEXDC_ENST00000337014.6_Missense_Mutation_p.E28K|OGFOD3_ENST00000313056.5_5'Flank|OGFOD3_ENST00000329197.5_5'Flank|HEXDC_ENST00000577944.1_Missense_Mutation_p.E28K			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	28					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTACCTCTCAGAGGTAAGGAC	0.418																																						uc002kew.2		NaN																	0				ovary(1)|skin(1)	2						c.(82-84)GAG>AAG		SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;							82.0	82.0	82.0					17																	80377757		1880	4091	5971	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80377757G>A	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.82G>A	17.37:g.80377757G>A	ENSP00000332634:p.Glu28Lys					C17orf101_uc002ket.1_5'Flank|C17orf101_uc002keu.1_5'Flank|C17orf101_uc010dip.1_5'Flank|HEXDC_uc002kev.3_Missense_Mutation_p.E28K|HEXDC_uc010diq.2_Missense_Mutation_p.E28K	p.E28K			Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		1	133	+	Breast(20;0.00106)|all_neural(118;0.0804)		28					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.82G>A		.	.	.	.	.	.	.	.	.	.	G	11.46	1.646509	0.29246	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.89681	-2.55;-2.55	4.97	0.217	0.15264	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.141211	0.49305	N	0.000158	T	0.77671	0.4165	L	0.37697	1.125	0.41732	D	0.989563	B;B	0.30937	0.301;0.067	B;B	0.27887	0.062;0.084	T	0.63642	-0.6591	10	0.15499	T	0.54	-19.1876	6.1823	0.20478	0.181:0.2807:0.5383:0.0	.	28;28	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	K	28	ENSP00000337854:E28K;ENSP00000332634:E28K	ENSP00000332634:E28K	E	+	1	0	HEXDC	77971046	0.986000	0.35501	0.484000	0.27391	0.427000	0.31564	1.718000	0.38001	0.186000	0.20125	-1.058000	0.02302	GAG		0.418	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1		NM_173620		16	27	0	0	0	1	0	16	27		
HEXDC	284004	broad.mit.edu	37	17	80391557	80391557	+	Silent	SNP	C	C	T	rs371237510		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80391557C>T	ENST00000327949.9	+	4	317	c.306C>T	c.(304-306)ttC>ttT	p.F102F	HEXDC_ENST00000337014.6_Silent_p.F102F|HEXDC_ENST00000577944.1_Silent_p.F102F			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	102					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACACGGCCTTCGCCCACCTGC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15651	0.001		0.0	False		,,,				2504	0.0					uc002kew.2		NaN																	0				ovary(1)|skin(1)	2						c.(304-306)TTC>TTT		SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;		C		0,3914		0,0,1957	43.0	47.0	46.0		306	0.0	0.4	17		46	1,8245		0,1,4122	no	coding-synonymous	HEXDC	NM_173620.2		0,1,6079	TT,TC,CC		0.0121,0.0,0.0082		102/586	80391557	1,12159	1957	4123	6080	SO:0001819	synonymous_variant	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80391557C>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.306C>T	17.37:g.80391557C>T						HEXDC_uc002kev.3_Silent_p.F102F|HEXDC_uc010diq.2_Silent_p.F102F|HEXDC_uc010wvm.1_RNA	p.F102F			Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		4	357	+	Breast(20;0.00106)|all_neural(118;0.0804)		102					B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37	c.306C>T																																																																																					0.652	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1		NM_173620		17	56	0	0	0	1	0	17	56		
LAMA1	284217	broad.mit.edu	37	18	7010382	7010382	+	Silent	SNP	G	G	C	rs139372717		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:7010382G>C	ENST00000389658.3	-	26	3783	c.3690C>G	c.(3688-3690)ctC>ctG	p.L1230L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1230	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CATAGGCCATGAGCTATCAAA	0.408																																						uc002knm.2		NaN																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(3688-3690)CTC>CTG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						85.0	80.0	82.0					18																	7010382		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7010382G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3690C>G	18.37:g.7010382G>C						LAMA1_uc010wzj.1_Silent_p.L706L	p.L1230L	NM_005559	NP_005550	P25391	LAMA1_HUMAN			26	3784	-		Colorectal(10;0.172)	1230			Laminin IV type A 2.			Silent	SNP	ENST00000389658.3	37	c.3690C>G	CCDS32787.1																																																																																				0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559		29	80	0	0	0	1	0	29	80		
LAMA1	284217	broad.mit.edu	37	18	7080413	7080413	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:7080413G>A	ENST00000389658.3	-	2	198	c.105C>T	c.(103-105)atC>atT	p.I35I	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	35	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CATTGGTGCTGATGTGAGCAT	0.517																																						uc002knm.2		NaN																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(103-105)ATC>ATT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						57.0	56.0	56.0					18																	7080413		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7080413G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.105C>T	18.37:g.7080413G>A						LAMA1_uc010wzj.1_5'UTR	p.I35I	NM_005559	NP_005550	P25391	LAMA1_HUMAN			2	199	-		Colorectal(10;0.172)	35			Laminin N-terminal.			Silent	SNP	ENST00000389658.3	37	c.105C>T	CCDS32787.1																																																																																				0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559		23	67	0	0	0	1	0	23	67		
CEP192	55125	broad.mit.edu	37	18	13092445	13092445	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:13092445C>T	ENST00000325971.8	+	32	5978	c.4385C>T	c.(4384-4386)tCa>tTa	p.S1462L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.S2058L|CEP192_ENST00000430049.2_Missense_Mutation_p.S1583L			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1462					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.S2058L(1)|p.S1462L(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTATACTTTCAGTAATTGGA	0.333																																						uc010xac.1		NaN																	2	Substitution - Missense(2)		cervix(2)	ovary(4)|pancreas(1)	5						c.(6172-6174)TCA>TTA		centrosomal protein 192kDa							81.0	84.0	83.0					18																	13092445		2202	4299	6501	SO:0001583	missense	55125							g.chr18:13092445C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4385C>T	18.37:g.13092445C>T	ENSP00000317156:p.Ser1462Leu					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1583L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S480L|CEP192_uc002krw.2_Missense_Mutation_p.S207L|CEP192_uc002krx.2_Missense_Mutation_p.S62L|CEP192_uc002kry.2_RNA	p.S2058L	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			34	6253	+			2058					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6173C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.425204	0.96131	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.39997	1.05;1.05;1.05	5.79	5.79	0.91817	.	0.137856	0.49916	D	0.000129	T	0.63546	0.2520	M	0.72894	2.215	0.58432	D	0.999998	D;D;D;D	0.69078	0.992;0.995;0.997;0.977	P;D;D;P	0.63793	0.856;0.918;0.913;0.73	T	0.65483	-0.6157	10	0.87932	D	0	-16.3192	17.8228	0.88655	0.0:1.0:0.0:0.0	.	1583;2058;62;660	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	L	2058;1462;1462;1583;62	ENSP00000427550:S2058L;ENSP00000317156:S1462L;ENSP00000389190:S1583L	ENSP00000317156:S1462L	S	+	2	0	CEP192	13082445	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.366000	0.59492	2.753000	0.94483	0.557000	0.71058	TCA		0.333	CEP192-201	KNOWN	basic	protein_coding	protein_coding			NM_032142		16	85	0	0	0	1	0	16	85		
DCC	1630	broad.mit.edu	37	18	50832018	50832018	+	Missense_Mutation	SNP	G	G	A	rs375859461		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:50832018G>A	ENST00000442544.2	+	13	2598	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q	DCC_ENST00000412726.1_Missense_Mutation_p.R509Q|DCC_ENST00000581580.1_Missense_Mutation_p.R316Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	661	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATAAAATTCGACACAGAAAG	0.423																																						uc002lfe.1		NaN																	0		p.R661*(1)		skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1981-1983)CGA>CAA		netrin receptor DCC precursor		G	GLN/ARG	0,4406		0,0,2203	74.0	83.0	80.0		1982	5.6	1.0	18		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCC	NM_005215.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	661/1448	50832018	1,13005	2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50832018G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1982G>A	18.37:g.50832018G>A	ENSP00000389140:p.Arg661Gln					DCC_uc010xdr.1_Missense_Mutation_p.R509Q|DCC_uc010dpf.1_Missense_Mutation_p.R316Q	p.R661Q	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	13	2569	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	661			Extracellular (Potential).|Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1982G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017719	0.54576	0.0	1.16E-4	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56444	0.46;0.46	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.086607	0.47455	D	0.000228	T	0.62720	0.2451	L	0.39633	1.23	0.48511	D	0.999661	D;D;D	0.62365	0.991;0.984;0.984	P;P;P	0.58928	0.848;0.748;0.808	T	0.63319	-0.6664	10	0.62326	D	0.03	.	18.7178	0.91682	0.0:0.0:1.0:0.0	.	509;509;661	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	Q	661;594;509	ENSP00000389140:R661Q;ENSP00000397322:R509Q	ENSP00000304146:R594Q	R	+	2	0	DCC	49086016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.178000	0.77657	2.774000	0.95407	0.655000	0.94253	CGA		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215		20	55	0	0	0	1	0	20	55		
ATP8B1	5205	broad.mit.edu	37	18	55342102	55342102	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:55342102C>G	ENST00000283684.4	-	15	1782	c.1783G>C	c.(1783-1785)Gac>Cac	p.D595H	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.D595H|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	595					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTGTTGAAGTCCAAAATGGCA	0.473																																						uc002lgw.2		NaN																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(1783-1785)GAC>CAC		ATPase, class I, type 8B, member 1							180.0	154.0	163.0					18																	55342102		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55342102C>G	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1783G>C	18.37:g.55342102C>G	ENSP00000283684:p.Asp595His					uc002lgv.1_Intron	p.D595H	NM_005603	NP_005594	O43520	AT8B1_HUMAN			15	1783	-		Colorectal(73;0.229)	595			Cytoplasmic (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1783G>C	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866669	0.91511	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.70282	-0.47;-0.47	5.63	5.63	0.86233	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.85252	0.5654	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86441	0.1767	10	0.87932	D	0	.	19.3047	0.94157	0.0:1.0:0.0:0.0	.	595	O43520	AT8B1_HUMAN	H	595	ENSP00000283684:D595H;ENSP00000445359:D595H	ENSP00000283684:D595H	D	-	1	0	ATP8B1	53493100	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	GAC		0.473	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1		NM_005603		30	44	0	0	0	1	0	30	44		
SERPINB13	5275	broad.mit.edu	37	18	61264380	61264380	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:61264380C>T	ENST00000344731.5	+	8	1061	c.959C>T	c.(958-960)tCg>tTg	p.S320L	SERPINB13_ENST00000269489.5_Missense_Mutation_p.S268L	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	320					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCGGGAATGTCGTCAGGCTCC	0.592																																						uc002ljc.2		NaN																	0				ovary(1)	1						c.(958-960)TCG>TTG		serine (or cysteine) proteinase inhibitor, clade							87.0	78.0	81.0					18																	61264380		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61264380C>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.959C>T	18.37:g.61264380C>T	ENSP00000341584:p.Ser320Leu					SERPINB13_uc002ljd.2_Missense_Mutation_p.S184L|SERPINB13_uc010xep.1_Missense_Mutation_p.S329L|SERPINB13_uc010xeq.1_Missense_Mutation_p.S141L|SERPINB13_uc010xer.1_Missense_Mutation_p.S141L	p.S320L	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			8	1127	+			320					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.959C>T	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453437	0.63290	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.84944	-1.92;-1.72	5.09	2.18	0.27775	Serpin domain (3);	0.890862	0.09582	N	0.782679	D	0.83436	0.5254	L	0.45051	1.395	0.09310	N	0.999997	P;P;P	0.48230	0.907;0.83;0.859	B;B;B	0.43658	0.426;0.243;0.207	T	0.72340	-0.4323	10	0.87932	D	0	.	15.884	0.79226	0.0:0.7431:0.2569:0.0	.	329;238;320	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	L	268;238;320	ENSP00000269489:S268L;ENSP00000341584:S320L	ENSP00000269489:S268L	S	+	2	0	SERPINB13	59415360	0.000000	0.05858	0.009000	0.14445	0.262000	0.26303	0.029000	0.13666	0.138000	0.18790	0.557000	0.71058	TCG		0.592	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1		NM_012397		16	93	0	0	0	1	0	16	93		
CDH19	28513	broad.mit.edu	37	18	64235752	64235752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:64235752C>G	ENST00000540086.1	-	3	637	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	CDH19_ENST00000262150.2_Missense_Mutation_p.E131Q	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	236	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AACTCAGACTCAGGTTCCACA	0.438																																						uc002lkc.1		NaN																	0				ovary(1)|skin(1)	2						c.(391-393)GAG>CAG		cadherin 19, type 2 preproprotein							141.0	136.0	137.0					18																	64235752		2203	4299	6502	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64235752C>G	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.391G>C	18.37:g.64235752C>G	ENSP00000439593:p.Glu131Gln					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.E131Q|CDH19_uc002lkd.2_Missense_Mutation_p.E131Q	p.E131Q	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			3	529	-		Esophageal squamous(42;0.0132)	131			Cadherin 1.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.391G>C	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345691	0.41498	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.54071	0.59;0.59	5.87	5.87	0.94306	Cadherin (4);Cadherin-like (1);	0.233343	0.41712	D	0.000821	T	0.51329	0.1668	N	0.20685	0.6	0.34709	D	0.727558	P;D	0.63880	0.956;0.993	B;P	0.54815	0.389;0.761	T	0.61739	-0.7001	10	0.46703	T	0.11	.	14.7685	0.69657	0.0:0.8561:0.1439:0.0	.	131;131	F5H1K0;Q9H159	.;CAD19_HUMAN	Q	131;131;76	ENSP00000262150:E131Q;ENSP00000439593:E131Q	ENSP00000262150:E131Q	E	-	1	0	CDH19	62386732	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	3.630000	0.54273	2.785000	0.95823	0.591000	0.81541	GAG		0.438	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1		NM_021153		26	104	0	0	0	1	0	26	104		
NETO1	81832	broad.mit.edu	37	18	70417770	70417770	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:70417770G>C	ENST00000327305.6	-	9	1725	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	NETO1_ENST00000299430.2_Silent_p.L355L|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Silent_p.L356L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	356					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGATGATAATGAGGATGATCA	0.463																																						uc002lkw.2		NaN																	0				ovary(2)|skin(2)	4						c.(1066-1068)CTC>CTG		neuropilin- and tolloid-like protein 1 isoform 3							91.0	74.0	80.0					18																	70417770		2203	4299	6502	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417770G>C	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1068C>G	18.37:g.70417770G>C						NETO1_uc002lkx.1_Silent_p.L355L|NETO1_uc002lky.1_Silent_p.L356L	p.L356L	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1352	-		Esophageal squamous(42;0.129)	356			Helical; (Potential).		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.1068C>G	CCDS12000.1																																																																																				0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2		NM_138999		18	80	0	0	0	1	0	18	80		
NETO1	81832	broad.mit.edu	37	18	70451007	70451007	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:70451007G>A	ENST00000327305.6	-	7	1431	c.774C>T	c.(772-774)gtC>gtT	p.V258V	NETO1_ENST00000299430.2_Silent_p.V257V|NETO1_ENST00000583169.1_Silent_p.V258V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	258	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGCGTAGCATGACATCATTAG	0.473																																						uc002lkw.2		NaN																	0				ovary(2)|skin(2)	4						c.(772-774)GTC>GTT		neuropilin- and tolloid-like protein 1 isoform 3							208.0	177.0	187.0					18																	70451007		2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70451007G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.774C>T	18.37:g.70451007G>A						NETO1_uc002lkx.1_Silent_p.V257V|NETO1_uc002lky.1_Silent_p.V258V	p.V258V	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	7	1058	-		Esophageal squamous(42;0.129)	258			CUB 2.|Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.774C>T	CCDS12000.1																																																																																				0.473	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2		NM_138999		154	56	0	0	0	1	0	154	56		
ZNF516	9658	broad.mit.edu	37	18	74091004	74091004	+	Silent	SNP	G	G	A	rs374668991		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:74091004G>A	ENST00000443185.2	-	4	3383	c.3066C>T	c.(3064-3066)ggC>ggT	p.G1022G	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1022					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGCCGCGTCGCCCCTGGACC	0.731																																						uc010dqx.1		NaN																	0				ovary(1)	1						c.(3064-3066)GGC>GGT		zinc finger protein 516		G		0,3854		0,0,1927	19.0	23.0	22.0		3066	-1.9	0.0	18		22	3,8187		0,3,4092	no	coding-synonymous	ZNF516	NM_014643.3		0,3,6019	AA,AG,GG		0.0366,0.0,0.0249		1022/1164	74091004	3,12041	1927	4095	6022	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091004G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3066C>T	18.37:g.74091004G>A						ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	p.G1022G	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	3301	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	1022						Silent	SNP	ENST00000443185.2	37	c.3066C>T																																																																																					0.731	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding			NM_014643		7	23	0	0	0	1	0	7	23		
POLRMT	5442	broad.mit.edu	37	19	630072	630072	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:630072C>G	ENST00000588649.2	-	3	374	c.290G>C	c.(289-291)gGa>gCa	p.G97A		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	97					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTACCATCTCCACTGCCACA	0.647																																						uc002lpf.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(289-291)GGA>GCA		mitochondrial DNA-directed RNA polymerase							49.0	54.0	52.0					19																	630072		2203	4300	6503	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:630072C>G		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.290G>C	19.37:g.630072C>G	ENSP00000465759:p.Gly97Ala						p.G97A	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	346	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	97					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.290G>C	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	C	0.685	-0.796669	0.02862	.	.	ENSG00000099821	ENST00000215591	T	0.46063	0.88	2.13	-4.26	0.03755	.	0.845230	0.09924	U	0.738081	T	0.19886	0.0478	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.29305	-1.0016	10	0.13470	T	0.59	.	5.6985	0.17869	0.0:0.5088:0.1454:0.3457	.	97	O00411	RPOM_HUMAN	A	97	ENSP00000215591:G97A	ENSP00000215591:G97A	G	-	2	0	POLRMT	581072	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.948000	0.03897	-0.713000	0.04981	-0.258000	0.10820	GGA		0.647	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3		NM_005035		22	54	0	0	0	1	0	22	54		
APC2	10297	broad.mit.edu	37	19	1466922	1466922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:1466922C>G	ENST00000535453.1	+	14	5335	c.3622C>G	c.(3622-3624)Ccc>Gcc	p.P1208A	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.P1208A|APC2_ENST00000238483.4_Missense_Mutation_p.P934A			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCATGCCTCCCAGCCGGAG	0.697																																						uc002lsr.1		NaN																	0				breast(3)|pancreas(1)	4						c.(3622-3624)CCC>GCC		adenomatosis polyposis coli 2							9.0	9.0	9.0					19																	1466922		2156	4237	6393	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1466922C>G		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3622C>G	19.37:g.1466922C>G	ENSP00000442954:p.Pro1208Ala					APC2_uc002lss.1_Missense_Mutation_p.P790A|APC2_uc002lst.1_Missense_Mutation_p.P1208A|APC2_uc002lsu.1_Missense_Mutation_p.P1207A|C19orf25_uc010xgn.1_Intron	p.P1208A	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	3830	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1208			Interaction with CTNNB1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.3622C>G	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234816	0.58886	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.94723	-3.5;-3.15;-3.5	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.97060	0.9770	10	0.66056	D	0.02	-31.1851	16.5058	0.84272	0.0:1.0:0.0:0.0	.	1207;1208	O95996-3;O95996	.;APC2_HUMAN	A	1208;934;1208	ENSP00000233607:P1208A;ENSP00000238483:P934A;ENSP00000442954:P1208A	ENSP00000233607:P1208A	P	+	1	0	APC2	1417922	1.000000	0.71417	0.916000	0.36221	0.256000	0.26092	7.192000	0.77771	2.237000	0.73441	0.511000	0.50034	CCC		0.697	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2		NM_005883		3	6	0	0	0	1	0	3	6		
CSNK1G2	1455	broad.mit.edu	37	19	1978737	1978737	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:1978737C>T	ENST00000255641.8	+	5	930	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGATGATCGCCATCCAGC	0.721																																					Ovarian(91;880 1392 21236 36928 37598)	uc002lul.3		NaN																	0				stomach(1)	1						c.(433-435)ATC>ATT		casein kinase 1, gamma 2							19.0	13.0	15.0					19																	1978737		2190	4298	6488	SO:0001819	synonymous_variant	1455				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity	g.chr19:1978737C>T	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.435C>T	19.37:g.1978737C>T						CSNK1G2_uc010dsu.2_Silent_p.I97I	p.I145I	NM_001319	NP_001310	P78368	KC1G2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	958	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	145			Protein kinase.		B5BU42|O00704|Q8WUB1	Silent	SNP	ENST00000255641.8	37	c.435C>T	CCDS12077.1																																																																																				0.721	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1		NM_001319		3	4	0	0	0	1	0	3	4		
DOT1L	84444	broad.mit.edu	37	19	2226780	2226780	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:2226780C>G	ENST00000398665.3	+	27	4296	c.4260C>G	c.(4258-4260)ctC>ctG	p.L1420L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1420					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCGACCTCAAGAATGGCC	0.741																																						uc002lvb.3		NaN																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(4258-4260)CTC>CTG		DOT1-like, histone H3 methyltransferase							15.0	22.0	20.0					19																	2226780		1952	4128	6080	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226780C>G	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4260C>G	19.37:g.2226780C>G						DOT1L_uc002lvc.1_Silent_p.L714L	p.L1420L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	4296	+		Hepatocellular(1079;0.137)	1420					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.4260C>G	CCDS42460.1																																																																																				0.741	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		4	10	0	0	0	1	0	4	10		
THOP1	7064	broad.mit.edu	37	19	2794783	2794783	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:2794783T>C	ENST00000307741.6	+	3	454	c.251T>C	c.(250-252)tTc>tCc	p.F84S	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	84					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTTGACTTCCCCCAGCAT	0.577																																						uc002lwj.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(250-252)TTC>TCC		thimet oligopeptidase 1							164.0	170.0	168.0					19																	2794783		2203	4300	6503	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2794783T>C		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.251T>C	19.37:g.2794783T>C	ENSP00000304467:p.Phe84Ser					THOP1_uc010xgz.1_5'Flank	p.F84S	NM_003249	NP_003240	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	406	+			84					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.251T>C	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421763	0.83559	.	.	ENSG00000172009	ENST00000307741	T	0.08634	3.07	5.25	5.25	0.73442	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41288	-0.9517	10	0.52906	T	0.07	-51.8431	13.9704	0.64237	0.0:0.0:0.0:1.0	.	84	P52888	THOP1_HUMAN	S	84	ENSP00000304467:F84S	ENSP00000304467:F84S	F	+	2	0	THOP1	2745783	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.321000	0.79088	1.983000	0.57843	0.459000	0.35465	TTC		0.577	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2				73	141	0	0	0	1	0	73	141		
CELF5	60680	broad.mit.edu	37	19	3284910	3284910	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3284910G>C	ENST00000292672.2	+	9	1087	c.1050G>C	c.(1048-1050)ccG>ccC	p.P350P	CELF5_ENST00000541430.2_Silent_p.P325P|CELF5_ENST00000588101.1_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	350					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CTCAGAGCCCGACTGTGGCCG	0.677																																						uc002lxm.2		NaN																	0				ovary(2)	2						c.(1048-1050)CCG>CCC		bruno-like 5, RNA binding protein							27.0	26.0	26.0					19																	3284910		2203	4298	6501	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3284910G>C	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1050G>C	19.37:g.3284910G>C						CELF5_uc002lxl.1_Silent_p.P350P|CELF5_uc010dtj.1_Silent_p.P325P|CELF5_uc010xhg.1_Silent_p.P236P|CELF5_uc002lxn.2_RNA	p.P350P	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN			9	1087	+			350					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.1050G>C	CCDS12106.1																																																																																				0.677	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1		NM_021938		5	12	0	0	0	1	0	5	12		
ZFR2	23217	broad.mit.edu	37	19	3816809	3816809	+	Missense_Mutation	SNP	C	C	T	rs375151900		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3816809C>T	ENST00000262961.4	-	13	1976	c.1966G>A	c.(1966-1968)Gtc>Atc	p.V656I		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	656	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTCGCATGACGCCTTTCAGG	0.667																																						uc002lyw.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(1966-1968)GTC>ATC		zinc finger RNA binding protein 2 isoform 1		C	ILE/VAL	0,4280		0,0,2140	13.0	16.0	15.0		1966	1.1	0.6	19		15	2,8492		0,2,4245	no	missense	ZFR2	NM_015174.1	29	0,2,6385	TT,TC,CC		0.0235,0.0,0.0157	probably-damaging	656/940	3816809	2,12772	2140	4247	6387	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3816809C>T	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1966G>A	19.37:g.3816809C>T	ENSP00000262961:p.Val656Ile						p.V656I	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	13	1978	-			656						Missense_Mutation	SNP	ENST00000262961.4	37	c.1966G>A	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906624	0.52333	0.0	2.35E-4	ENSG00000105278	ENST00000262961	T	0.13538	2.58	3.31	1.13	0.20643	DZF (1);	0.000000	0.56097	U	0.000025	T	0.36635	0.0974	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07673	-1.0760	10	0.66056	D	0.02	-28.0692	6.6969	0.23203	0.0:0.7525:0.0:0.2475	.	656	Q9UPR6	ZFR2_HUMAN	I	656	ENSP00000262961:V656I	ENSP00000262961:V656I	V	-	1	0	ZFR2	3767809	1.000000	0.71417	0.581000	0.28614	0.393000	0.30537	6.652000	0.74377	0.127000	0.18452	0.478000	0.44815	GTC		0.667	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2		NM_015174		3	5	0	0	0	1	0	3	5		
EEF2	1938	broad.mit.edu	37	19	3979971	3979971	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3979971C>A	ENST00000309311.6	-	10	1528	c.1440G>T	c.(1438-1440)gtG>gtT	p.V480V	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	480					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCGTCTTCACCAGGAACT	0.592																																					Colon(165;1804 1908 4071 6587 18799)	uc002lze.2		NaN																	0					0						c.(1438-1440)GTG>GTT		eukaryotic translation elongation factor 2																																				SO:0001819	synonymous_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3979971C>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1440G>T	19.37:g.3979971C>A							p.V480V	NM_001961	NP_001952	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1523	-		Hepatocellular(1079;0.137)	480					B2RMP5|D6W618|Q58J86	Silent	SNP	ENST00000309311.6	37	c.1440G>T	CCDS12117.1																																																																																				0.592	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2		NM_001961		7	29	1	0	0.00198382	1	0.0020207	7	29		
MLLT1	4298	broad.mit.edu	37	19	6230705	6230705	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:6230705C>T	ENST00000252674.7	-	4	459	c.296G>A	c.(295-297)tGc>tAc	p.C99Y		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	99	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GTAGGTGAAGCAGACCTTCCT	0.597			T	MLL	AL																																	uc002mek.2		NaN		Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				skin(1)	1						c.(295-297)TGC>TAC		myeloid/lymphoid or mixed-lineage leukemia							156.0	157.0	157.0					19																	6230705		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6230705C>T		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.296G>A	19.37:g.6230705C>T	ENSP00000252674:p.Cys99Tyr						p.C99Y	NM_005934	NP_005925	Q03111	ENL_HUMAN			4	460	-			99			YEATS.		Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.296G>A	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923496	0.52653	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	L	0.31664	0.95	0.80722	D	1	P	0.44986	0.847	P	0.44772	0.46	T	0.54596	-0.8270	9	0.45353	T	0.12	-32.5262	16.3961	0.83605	0.0:1.0:0.0:0.0	.	99	Q03111	ENL_HUMAN	Y	99	.	ENSP00000252674:C99Y	C	-	2	0	MLLT1	6181705	1.000000	0.71417	0.997000	0.53966	0.549000	0.35272	2.843000	0.48238	2.427000	0.82271	0.655000	0.94253	TGC		0.597	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1		NM_005934		30	131	0	0	0	1	0	30	131		
ZNF557	79230	broad.mit.edu	37	19	7083276	7083276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7083276G>T	ENST00000439035.2	+	8	1033	c.793G>T	c.(793-795)Gag>Tag	p.E265*	ZNF557_ENST00000414706.1_Nonsense_Mutation_p.E272*|ZNF557_ENST00000252840.6_Nonsense_Mutation_p.E272*			Q8N988	ZN557_HUMAN	zinc finger protein 557	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GTGTTTTCGTGAGTTCCGCAC	0.468																																						uc002mgb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(793-795)GAG>TAG		zinc finger protein 557 isoform b							97.0	104.0	102.0					19																	7083276		2173	4286	6459	SO:0001587	stop_gained	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7083276G>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.793G>T	19.37:g.7083276G>T	ENSP00000398965:p.Glu265*					ZNF557_uc002mga.2_Nonsense_Mutation_p.E272*|ZNF557_uc002mgc.2_Nonsense_Mutation_p.E272*	p.E265*	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	1278	+			265			C2H2-type 5.		Q6PEJ3|Q9BTZ1	Nonsense_Mutation	SNP	ENST00000439035.2	37	c.793G>T	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663508	0.96745	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	.	.	.	1.32	-1.39	0.08997	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	0.4353	0.00478	0.1922:0.2471:0.3122:0.2485	.	.	.	.	X	272;272;265	.	ENSP00000252840:E272X	E	+	1	0	ZNF557	7034276	0.000000	0.05858	0.001000	0.08648	0.234000	0.25298	-0.334000	0.07883	-0.320000	0.08640	0.313000	0.20887	GAG		0.468	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1		NM_024341		20	80	1	0	1.01871e-10	1	1.1319e-10	20	80		
CLEC4G	339390	broad.mit.edu	37	19	7794775	7794775	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7794775C>G	ENST00000328853.5	-	8	743	c.675G>C	c.(673-675)ctG>ctC	p.L225L	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	225	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GCACAGCCCTCAGGCCCAGCC	0.647																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	uc002mhp.3		NaN																	0					0						c.(673-675)CTG>CTC		C-type lectin domain family 4, member G							55.0	53.0	53.0					19																	7794775		2203	4300	6503	SO:0001819	synonymous_variant	339390					integral to membrane	protein binding|sugar binding	g.chr19:7794775C>G	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.675G>C	19.37:g.7794775C>G							p.L225L	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN			8	744	-			225			Extracellular (Potential).|C-type lectin.			Silent	SNP	ENST00000328853.5	37	c.675G>C	CCDS12185.1																																																																																				0.647	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1		NM_198492		9	53	0	0	0	1	0	9	53		
MAP2K7	5609	broad.mit.edu	37	19	7968896	7968896	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7968896G>A	ENST00000397979.3	+	1	121	c.67G>A	c.(67-69)Gag>Aag	p.E23K	AC010336.1_ENST00000539278.1_5'Flank|MAP2K7_ENST00000397983.3_Missense_Mutation_p.E23K|MAP2K7_ENST00000545011.1_Missense_Mutation_p.E23K|MAP2K7_ENST00000397981.3_Missense_Mutation_p.E23K|RN7SL115P_ENST00000392196.5_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	23					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GGAGAACCGGGAGGCCCGGCG	0.741																																						uc002mit.2		NaN																	0				large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11						c.(67-69)GAG>AAG		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						12.0	17.0	16.0					19																	7968896		1874	4086	5960	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7968896G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.67G>A	19.37:g.7968896G>A	ENSP00000381066:p.Glu23Lys					MAP2K7_uc002mis.1_Missense_Mutation_p.E23K|MAP2K7_uc002miv.2_Missense_Mutation_p.E23K|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.E23K|MAP2K7_uc010dvv.2_5'UTR	p.E23K	NM_145185	NP_660186	O14733	MP2K7_HUMAN			1	132	+			23			Potential.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.67G>A	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525358	0.64747	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.73258	-0.37;-0.47;-0.73;-0.48	3.78	3.78	0.43462	.	0.000000	0.64402	U	0.000001	T	0.69187	0.3083	N	0.25647	0.755	0.49483	D	0.999792	B;B;D	0.61697	0.013;0.345;0.99	B;B;P	0.57620	0.01;0.074;0.824	T	0.69371	-0.5163	10	0.38643	T	0.18	-11.7644	13.1697	0.59591	0.0:0.0:1.0:0.0	.	23;23;23	O14733-4;O14733;B4DV95	.;MP2K7_HUMAN;.	K	23	ENSP00000381068:E23K;ENSP00000381070:E23K;ENSP00000443946:E23K;ENSP00000381066:E23K	ENSP00000381066:E23K	E	+	1	0	MAP2K7	7874896	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.918000	0.87506	1.966000	0.57179	0.462000	0.41574	GAG		0.741	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1				6	7	0	0	0	1	0	6	7		
ICAM1	3383	broad.mit.edu	37	19	10385665	10385665	+	Missense_Mutation	SNP	G	G	C	rs542476616		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:10385665G>C	ENST00000264832.3	+	2	617	c.292G>C	c.(292-294)Gat>Cat	p.D98H	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	98	Ig-like C2-type 1.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	AAACTGCCCTGATGGGCAGTC	0.542																																						uc002mnq.2		NaN																	0				ovary(1)	1						c.(292-294)GAT>CAT		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)						116.0	115.0	115.0					19																	10385665		2203	4300	6503	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10385665G>C		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.292G>C	19.37:g.10385665G>C	ENSP00000264832:p.Asp98His					ICAM1_uc010xle.1_Intron	p.D98H	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		2	611	+			98			Extracellular (Potential).|Ig-like C2-type 1.		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.292G>C	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834280	0.32421	.	.	ENSG00000090339	ENST00000264832	T	0.15372	2.43	4.05	-8.1	0.01086	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	2.752600	0.01392	N	0.013271	T	0.21186	0.0510	L	0.34521	1.04	0.09310	N	1	P	0.52577	0.954	P	0.56865	0.808	T	0.49588	-0.8924	10	0.49607	T	0.09	0.4041	6.8164	0.23833	0.6879:0.0974:0.1168:0.0978	.	98	P05362	ICAM1_HUMAN	H	98	ENSP00000264832:D98H	ENSP00000264832:D98H	D	+	1	0	ICAM1	10246665	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.036000	0.00158	-2.724000	0.00387	-0.140000	0.14226	GAT		0.542	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1				29	128	0	0	0	1	0	29	128		
C19orf52	90580	broad.mit.edu	37	19	11040315	11040315	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11040315G>T	ENST00000270502.6	+	2	810	c.720G>T	c.(718-720)gaG>gaT	p.E240D	YIPF2_ENST00000590329.1_5'Flank|YIPF2_ENST00000253031.2_5'Flank|YIPF2_ENST00000586748.1_5'Flank	NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	240										prostate(1)	1						TGCAGAAGGAGAAGAAGGACA	0.632																																						uc002mqd.1		NaN																	0					0						c.(718-720)GAG>GAT		hypothetical protein LOC90580							26.0	24.0	25.0					19																	11040315		2202	4297	6499	SO:0001583	missense	90580							g.chr19:11040315G>T	BC011833	CCDS12252.1	19p13.2	2011-11-24			ENSG00000142444	ENSG00000142444			25152	protein-coding gene	gene with protein product						12477932	Standard	NM_138358		Approved		uc002mqd.2	Q9BSF4		ENST00000270502.6:c.720G>T	19.37:g.11040315G>T	ENSP00000270502:p.Glu240Asp					YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	p.E240D	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN			2	795	+			240					Q96EY6|Q96IT8	Missense_Mutation	SNP	ENST00000270502.6	37	c.720G>T	CCDS12252.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448246	0.43429	.	.	ENSG00000142444	ENST00000270502	.	.	.	4.83	1.5	0.22942	.	0.182654	0.32028	N	0.006688	T	0.25791	0.0628	N	0.24115	0.695	0.24403	N	0.994696	B	0.30482	0.281	B	0.26969	0.075	T	0.13548	-1.0505	9	0.56958	D	0.05	-27.0859	9.5432	0.39264	0.257:0.0:0.743:0.0	.	240	Q9BSF4	CS052_HUMAN	D	240	.	ENSP00000270502:E240D	E	+	3	2	C19orf52	10901315	0.999000	0.42202	0.771000	0.31576	0.666000	0.39218	1.790000	0.38734	0.078000	0.16900	-0.797000	0.03246	GAG		0.632	C19orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452635.1		NM_138358		14	17	1	0	3.27435e-08	1	3.53832e-08	14	17		
C19orf52	90580	broad.mit.edu	37	19	11040364	11040364	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11040364G>C	ENST00000270502.6	+	2	859	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	YIPF2_ENST00000590329.1_5'Flank|YIPF2_ENST00000253031.2_5'Flank|YIPF2_ENST00000586748.1_5'Flank	NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	257										prostate(1)	1						GGTGCAGGCGGAGGCCCCGAG	0.637																																						uc002mqd.1		NaN																	0					0						c.(769-771)GAG>CAG		hypothetical protein LOC90580							11.0	11.0	11.0					19																	11040364		2189	4278	6467	SO:0001583	missense	90580							g.chr19:11040364G>C	BC011833	CCDS12252.1	19p13.2	2011-11-24			ENSG00000142444	ENSG00000142444			25152	protein-coding gene	gene with protein product						12477932	Standard	NM_138358		Approved		uc002mqd.2	Q9BSF4		ENST00000270502.6:c.769G>C	19.37:g.11040364G>C	ENSP00000270502:p.Glu257Gln					YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	p.E257Q	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN			2	844	+			257					Q96EY6|Q96IT8	Missense_Mutation	SNP	ENST00000270502.6	37	c.769G>C	CCDS12252.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490623	0.44249	.	.	ENSG00000142444	ENST00000270502	.	.	.	4.71	2.54	0.30619	.	0.218239	0.25897	N	0.027582	T	0.24160	0.0585	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.14587	-1.0467	9	0.59425	D	0.04	-15.4448	5.7944	0.18379	0.1046:0.1994:0.696:0.0	.	257	Q9BSF4	CS052_HUMAN	Q	257	.	ENSP00000270502:E257Q	E	+	1	0	C19orf52	10901364	0.006000	0.16342	0.017000	0.16124	0.043000	0.13939	1.211000	0.32382	1.297000	0.44761	0.655000	0.94253	GAG		0.637	C19orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452635.1		NM_138358		4	16	0	0	0	1	0	4	16		
ZNF440	126070	broad.mit.edu	37	19	11943309	11943309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11943309C>T	ENST00000304060.5	+	4	1482	c.1318C>T	c.(1318-1320)Caa>Taa	p.Q440*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q440*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAATAACCTTCAAAGTCATGA	0.398																																						uc002msp.1		NaN																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)		0						c.(1318-1320)CAA>TAA		zinc finger protein 440							73.0	75.0	74.0					19																	11943309		2203	4300	6503	SO:0001587	stop_gained	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943309C>T	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1318C>T	19.37:g.11943309C>T	ENSP00000305373:p.Gln440*						p.Q440*	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	1474	+			440			C2H2-type 11.		Q8N1R9	Nonsense_Mutation	SNP	ENST00000304060.5	37	c.1318C>T	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	c	23.5	4.425573	0.83667	.	.	ENSG00000171295	ENST00000304060	.	.	.	1.18	1.18	0.20946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.6103	0.22747	0.0:0.4728:0.5272:0.0	.	.	.	.	X	440	.	ENSP00000305373:Q440X	Q	+	1	0	ZNF440	11804309	0.001000	0.12720	0.002000	0.10522	0.450000	0.32258	0.878000	0.28126	0.986000	0.38683	0.194000	0.17425	CAA		0.398	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1		NM_152357		12	77	0	0	0	1	0	12	77		
ASF1B	55723	broad.mit.edu	37	19	14232376	14232376	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232376C>T	ENST00000263382.3	-	3	869	c.370G>A	c.(370-372)Gag>Aag	p.E124K	ASF1B_ENST00000474890.1_Missense_Mutation_p.E124K|ASF1B_ENST00000592798.1_Intron|CTB-55O6.10_ENST00000590715.1_RNA	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	124	Interaction with CHAF1B.|Interaction with histone H3. {ECO:0000250}.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						GGCGGGTTCTCACGCAGCTCA	0.557																																						uc002mye.2		NaN																	0					0						c.(370-372)GAG>AAG		anti-silencing function 1B							139.0	118.0	125.0					19																	14232376		2203	4300	6503	SO:0001583	missense	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14232376C>T	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.370G>A	19.37:g.14232376C>T	ENSP00000263382:p.Glu124Lys						p.E124K	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN			3	542	-			124			Interaction with CHAF1B.|Interaction with histone H3 (By similarity).		Q53G51|Q9NVZ0	Missense_Mutation	SNP	ENST00000263382.3	37	c.370G>A	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587068	0.96578	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.86920	0.6049	H	0.94345	3.525	0.80722	D	1	D	0.59357	0.985	D	0.79784	0.993	D	0.89667	0.3881	9	0.59425	D	0.04	.	17.1187	0.86696	0.0:1.0:0.0:0.0	.	124	Q9NVP2	ASF1B_HUMAN	K	124	.	ENSP00000263382:E124K	E	-	1	0	ASF1B	14093376	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.525000	0.81892	2.623000	0.88846	0.655000	0.94253	GAG		0.557	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1		NM_018154		14	81	0	0	0	1	0	14	81		
ASF1B	55723	broad.mit.edu	37	19	14232407	14232407	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232407G>C	ENST00000263382.3	-	3	838	c.339C>G	c.(337-339)gtC>gtG	p.V113V	ASF1B_ENST00000474890.1_Silent_p.V113V|ASF1B_ENST00000592798.1_Intron|CTB-55O6.10_ENST00000590715.1_RNA	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	113	Interaction with CHAF1B.|Interaction with histone H3. {ECO:0000250}.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						ACTCGTTGTTGACGTAGTAGC	0.577																																						uc002mye.2		NaN																	0					0						c.(337-339)GTC>GTG		anti-silencing function 1B							167.0	129.0	142.0					19																	14232407		2203	4300	6503	SO:0001819	synonymous_variant	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14232407G>C	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.339C>G	19.37:g.14232407G>C							p.V113V	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN			3	511	-			113			Interaction with CHAF1B.|Interaction with histone H3 (By similarity).		Q53G51|Q9NVZ0	Silent	SNP	ENST00000263382.3	37	c.339C>G	CCDS12306.1																																																																																				0.577	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1		NM_018154		12	68	0	0	0	1	0	12	68		
ASF1B	55723	broad.mit.edu	37	19	14232458	14232458	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232458G>A	ENST00000263382.3	-	3	787	c.288C>T	c.(286-288)ctC>ctT	p.L96L	ASF1B_ENST00000474890.1_Silent_p.L96L|ASF1B_ENST00000592798.1_Intron|CTB-55O6.10_ENST00000590715.1_RNA	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	96	Interaction with CHAF1B.|Interaction with histone H3. {ECO:0000250}.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						TGCAGGTGATGAGGACCACAG	0.592																																						uc002mye.2		NaN																	0					0						c.(286-288)CTC>CTT		anti-silencing function 1B							143.0	100.0	115.0					19																	14232458		2203	4300	6503	SO:0001819	synonymous_variant	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14232458G>A	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.288C>T	19.37:g.14232458G>A							p.L96L	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN			3	460	-			96			Interaction with CHAF1B.|Interaction with histone H3 (By similarity).		Q53G51|Q9NVZ0	Silent	SNP	ENST00000263382.3	37	c.288C>T	CCDS12306.1																																																																																				0.592	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1		NM_018154		9	44	0	0	0	1	0	9	44		
EMR2	30817	broad.mit.edu	37	19	14876511	14876511	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14876511C>A	ENST00000315576.3	-	8	1191	c.740G>T	c.(739-741)aGa>aTa	p.R247I	EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.R247I|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000594294.1_Missense_Mutation_p.R198I|EMR2_ENST00000353876.1_Missense_Mutation_p.R154I|EMR2_ENST00000346057.1_Missense_Mutation_p.R198I|EMR2_ENST00000601345.1_Missense_Mutation_p.R247I|EMR2_ENST00000392965.3_Missense_Mutation_p.R247I|EMR2_ENST00000594076.1_Missense_Mutation_p.R154I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.R247I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	247	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GATTCCGTGTCTGGGCTTCCA	0.607																																						uc002mzp.1		NaN																	0				lung(2)|ovary(1)|skin(1)	4						c.(739-741)AGA>ATA		egf-like module containing, mucin-like, hormone							90.0	87.0	88.0					19																	14876511		2202	4278	6480	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14876511C>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.740G>T	19.37:g.14876511C>A	ENSP00000319883:p.Arg247Ile					EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.R247I|EMR2_uc002mzo.1_Missense_Mutation_p.R247I|EMR2_uc002mzq.1_Missense_Mutation_p.R198I|EMR2_uc002mzr.1_Missense_Mutation_p.R198I|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Missense_Mutation_p.R154I|EMR2_uc002mzu.1_Missense_Mutation_p.R154I|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	p.R247I	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			8	1196	-			247			EGF-like 5; calcium-binding (Potential).|Extracellular (Potential).		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.740G>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	4.795	0.147827	0.09134	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000392965;ENST00000392962	T;T;T;T;T;T	0.79845	-1.01;-1.14;-0.51;0.27;-1.31;-1.2	3.04	-6.09	0.02145	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.53530	0.1802	N	0.11023	0.085	0.09310	N	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	0.0;0.0;0.001;0.002;0.0;0.0;0.0	T	0.34750	-0.9816	9	0.34782	T	0.22	.	1.0472	0.01572	0.4721:0.1168:0.1591:0.252	.	247;154;247;198;247;247;247	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	I	247;247;198;154;247;198	ENSP00000319883:R247I;ENSP00000376694:R247I;ENSP00000263380:R198I;ENSP00000319454:R154I;ENSP00000376692:R247I;ENSP00000376689:R198I	ENSP00000319883:R247I	R	-	2	0	EMR2	14737511	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.827000	0.04424	-1.110000	0.02992	-1.492000	0.00969	AGA		0.607	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2				10	66	1	0	9.16793e-09	1	9.97547e-09	10	66		
OR7C2	26658	broad.mit.edu	37	19	15053121	15053121	+	Missense_Mutation	SNP	C	C	T	rs199970299		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:15053121C>T	ENST00000248072.3	+	1	821	c.821C>T	c.(820-822)tCg>tTg	p.S274L		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CTGGCAGCCTCGGTGATGTAC	0.557													.|||	1	0.000199681	0.0	0.0014	5008	,	,		18250	0.0		0.0	False		,,,				2504	0.0					uc010xoc.1		NaN																	0				ovary(2)|skin(1)	3						c.(820-822)TCG>TTG		olfactory receptor, family 7, subfamily C,							133.0	120.0	124.0					19																	15053121		2203	4300	6503	SO:0001583	missense	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15053121C>T	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.821C>T	19.37:g.15053121C>T	ENSP00000248072:p.Ser274Leu						p.S274L	NM_012377	NP_036509	O60412	OR7C2_HUMAN			1	821	+	Ovarian(108;0.203)		274			Helical; Name=7; (Potential).		O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	c.821C>T	CCDS12320.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	12.83	2.054346	0.36277	.	.	ENSG00000127529	ENST00000248072	T	0.00265	8.39	3.95	1.75	0.24633	GPCR, rhodopsin-like superfamily (1);	0.212743	0.23541	U	0.047064	T	0.00524	0.0017	H	0.94734	3.575	0.18873	N	0.999988	D	0.61080	0.989	P	0.55508	0.777	T	0.32052	-0.9921	10	0.72032	D	0.01	.	7.9953	0.30265	0.0:0.7911:0.0:0.2089	.	274	O60412	OR7C2_HUMAN	L	274	ENSP00000248072:S274L	ENSP00000248072:S274L	S	+	2	0	OR7C2	14914121	0.158000	0.22850	0.186000	0.23195	0.246000	0.25737	1.887000	0.39698	0.435000	0.26365	0.494000	0.49563	TCG		0.557	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1				27	95	0	0	0	1	0	27	95		
EPHX3	79852	broad.mit.edu	37	19	15342142	15342142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:15342142C>T	ENST00000221730.3	-	3	615	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	EPHX3_ENST00000435261.1_Missense_Mutation_p.R132Q|EPHX3_ENST00000602233.1_Missense_Mutation_p.R132Q	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	132						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GCCATAGCCTCGCAAGTCCAC	0.617																																						uc002nap.2		NaN																	0					0						c.(394-396)CGA>CAA		abhydrolase domain containing 9 precursor							70.0	64.0	66.0					19																	15342142		2203	4300	6503	SO:0001583	missense	79852					extracellular region	hydrolase activity	g.chr19:15342142C>T	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.395G>A	19.37:g.15342142C>T	ENSP00000221730:p.Arg132Gln					EPHX3_uc002naq.2_Missense_Mutation_p.R132Q	p.R132Q	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN			3	604	-			132					A3KMR3	Missense_Mutation	SNP	ENST00000221730.3	37	c.395G>A	CCDS12327.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.807974	0.70797	.	.	ENSG00000105131	ENST00000221730;ENST00000435261	T;T	0.05447	3.44;3.44	4.24	4.24	0.50183	Alpha/beta hydrolase fold-1 (1);	0.000000	0.53938	D	0.000054	T	0.38026	0.1025	H	0.97829	4.085	0.53005	D	0.99996	D	0.89917	1.0	D	0.81914	0.995	T	0.57106	-0.7868	10	0.87932	D	0	-15.6021	12.0149	0.53309	0.0:1.0:0.0:0.0	.	132	Q9H6B9	EPHX3_HUMAN	Q	132	ENSP00000221730:R132Q;ENSP00000410323:R132Q	ENSP00000221730:R132Q	R	-	2	0	EPHX3	15203142	1.000000	0.71417	0.965000	0.40720	0.012000	0.07955	5.764000	0.68826	2.203000	0.70933	0.462000	0.41574	CGA		0.617	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1		NM_024794		11	34	0	0	0	1	0	11	34		
EPS15L1	58513	broad.mit.edu	37	19	16495955	16495955	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16495955G>A	ENST00000248070.6	-	21	2371	c.2232C>T	c.(2230-2232)ttC>ttT	p.F744F	EPS15L1_ENST00000535753.2_Silent_p.F744F|EPS15L1_ENST00000455140.2_Silent_p.F744F|EPS15L1_ENST00000594975.1_Silent_p.F746F	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	744	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACATCTGGCTGAAGTCGGCAA	0.542																																						uc002ndz.1		NaN																	0				ovary(3)|skin(2)	5						c.(2230-2232)TTC>TTT		epidermal growth factor receptor pathway							132.0	139.0	136.0					19																	16495955		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16495955G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2232C>T	19.37:g.16495955G>A						EPS15L1_uc002ndx.2_Silent_p.F744F|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.F634F|EPS15L1_uc010xpf.1_Silent_p.F647F|EPS15L1_uc002nea.1_Silent_p.F744F|EPS15L1_uc010eah.1_Silent_p.F746F	p.F744F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			21	2238	-			744			15 X 3 AA repeats of D-P-F.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.2232C>T	CCDS32944.1																																																																																				0.542	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1		NM_021235		76	92	0	0	0	1	0	76	92		
EPS15L1	58513	broad.mit.edu	37	19	16528407	16528407	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16528407C>T	ENST00000248070.6	-	12	1288	c.1149G>A	c.(1147-1149)gtG>gtA	p.V383V	EPS15L1_ENST00000535753.2_Silent_p.V383V|EPS15L1_ENST00000455140.2_Silent_p.V383V|EPS15L1_ENST00000594975.1_Silent_p.V383V|EPS15L1_ENST00000602009.1_Silent_p.V229V|EPS15L1_ENST00000597937.1_Silent_p.V383V	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	383					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CAAGCTCCTTCACGCCAGTAA	0.502											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ndz.1		NaN																	0				ovary(3)|skin(2)	5						c.(1147-1149)GTG>GTA		epidermal growth factor receptor pathway							109.0	98.0	102.0					19																	16528407		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16528407C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1149G>A	19.37:g.16528407C>T			OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	711	EPS15L1_uc002ndx.2_Silent_p.V383V|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.V273V|EPS15L1_uc010xpf.1_Silent_p.V286V|EPS15L1_uc002nea.1_Silent_p.V383V|EPS15L1_uc010eah.1_Silent_p.V383V|EPS15L1_uc002neb.1_Silent_p.V229V|EPS15L1_uc002nec.1_Silent_p.V383V	p.V383V	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			12	1155	-			383					A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.1149G>A	CCDS32944.1																																																																																				0.502	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1		NM_021235		5	40	0	0	0	1	0	5	40		
CHERP	10523	broad.mit.edu	37	19	16653184	16653184	+	Missense_Mutation	SNP	C	C	G	rs200777660	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16653184C>G	ENST00000198939.6	-	1	42	c.6G>C	c.(4-6)gaG>gaC	p.E2D	RN7SL146P_ENST00000472338.2_RNA|CTD-3222D19.7_ENST00000595909.1_lincRNA|CHERP_ENST00000546361.2_Missense_Mutation_p.E2D|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GCAGCGGCATCTCCATGGCTC	0.711																																						uc002nei.1		NaN																	0				ovary(2)	2						c.(4-6)GAG>GAC		calcium homeostasis endoplasmic reticulum							10.0	14.0	13.0					19																	16653184		1932	4121	6053	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16653184C>G	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.6G>C	19.37:g.16653184C>G	ENSP00000198939:p.Glu2Asp					MED26_uc002nee.2_Intron|CHERP_uc002nej.2_5'Flank	p.E2D	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			1	80	-			2						Missense_Mutation	SNP	ENST00000198939.6	37	c.6G>C		.	.	.	.	.	.	.	.	.	.	C	7.516	0.655682	0.14580	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.20069	2.1;2.14	4.03	2.99	0.34606	.	.	.	.	.	T	0.03434	0.0099	N	0.00162	-1.95	0.40670	D	0.982201	B	0.11235	0.004	B	0.12837	0.008	T	0.33929	-0.9849	9	0.02654	T	1	-24.6394	7.2482	0.26133	0.0:0.8791:0.0:0.1209	.	2	Q8IWX8	CHERP_HUMAN	D	2	ENSP00000439856:E2D;ENSP00000198939:E2D	ENSP00000198939:E2D	E	-	3	2	CHERP	16514184	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.912000	0.28597	0.917000	0.36895	0.555000	0.69702	GAG		0.711	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1		NM_006387		3	12	0	0	0	1	0	3	12		
MVB12A	93343	broad.mit.edu	37	19	17531000	17531000	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:17531000C>T	ENST00000317040.7	+	1	1111	c.56C>T	c.(55-57)tCg>tTg	p.S19L	MVB12A_ENST00000543795.1_Missense_Mutation_p.S19L|MVB12A_ENST00000392702.2_Missense_Mutation_p.S19L|MVB12A_ENST00000528515.1_Missense_Mutation_p.S19L|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000529939.1_Missense_Mutation_p.S19L|CTD-2521M24.8_ENST00000597028.1_RNA			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	19	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										GCCTGGTCGTCGGCCTCTGCA	0.766																																						uc002ngo.1		NaN																	0					0						c.(55-57)TCG>TTG		family with sequence similarity 125, member A							3.0	5.0	4.0					19																	17531000		1832	3716	5548	SO:0001583	missense	93343				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding	g.chr19:17531000C>T	BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.56C>T	19.37:g.17531000C>T	ENSP00000324810:p.Ser19Leu					FAM125A_uc002ngn.1_Missense_Mutation_p.S19L|FAM125A_uc002ngp.1_5'Flank|FAM125A_uc002ngq.1_5'Flank	p.S19L	NM_138401	NP_612410	Q96EY5	F125A_HUMAN			1	89	+			19			MABP.		Q96I18	Missense_Mutation	SNP	ENST00000317040.7	37	c.56C>T	CCDS12359.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762931	0.49574	.	.	ENSG00000141971	ENST00000317040;ENST00000528659;ENST00000392702;ENST00000529939;ENST00000528515;ENST00000543795	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.98	3.72	0.42706	MABP domain (1);	0.184784	0.48767	D	0.000162	T	0.24314	0.0589	N	0.19112	0.55	0.34230	D	0.676434	B;P	0.43519	0.027;0.809	B;B	0.29353	0.008;0.101	T	0.41034	-0.9531	10	0.41790	T	0.15	2.5108	9.2221	0.37384	0.0:0.8826:0.0:0.1174	.	19;19	Q96EY5;E9PPW1	F125A_HUMAN;.	L	19	ENSP00000324810:S19L;ENSP00000436296:S19L;ENSP00000376466:S19L;ENSP00000432526:S19L;ENSP00000433677:S19L;ENSP00000444653:S19L	ENSP00000324810:S19L	S	+	2	0	FAM125A	17392000	0.997000	0.39634	1.000000	0.80357	0.380000	0.30137	1.946000	0.40283	2.307000	0.77673	0.555000	0.69702	TCG		0.766	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2		NM_138401		3	8	0	0	0	1	0	3	8		
FCHO1	23149	broad.mit.edu	37	19	17895552	17895552	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:17895552C>G	ENST00000596536.1	+	26	2528	c.2245C>G	c.(2245-2247)Cag>Gag	p.Q749E	FCHO1_ENST00000596951.1_Missense_Mutation_p.Q749E|FCHO1_ENST00000600676.1_Missense_Mutation_p.Q749E|FCHO1_ENST00000597512.1_Missense_Mutation_p.Q756E|FCHO1_ENST00000539407.1_Missense_Mutation_p.Q749E|FCHO1_ENST00000252771.7_Missense_Mutation_p.Q749E|FCHO1_ENST00000595033.1_Missense_Mutation_p.Q699E|FCHO1_ENST00000389133.4_Missense_Mutation_p.Q749E|FCHO1_ENST00000594202.1_Missense_Mutation_p.Q749E	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	749	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCCGGGTCCCCAGTCTGTGCC	0.617											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ebb.2		NaN																	0				breast(1)	1						c.(2245-2247)CAG>GAG		FCH domain only 1 isoform b							130.0	115.0	120.0					19																	17895552		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17895552C>G	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2245C>G	19.37:g.17895552C>G	ENSP00000470731:p.Gln749Glu		OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	721	FCHO1_uc002nhg.3_Missense_Mutation_p.Q749E|FCHO1_uc002nhh.2_Missense_Mutation_p.Q749E|FCHO1_uc010xpw.1_Missense_Mutation_p.Q699E|FCHO1_uc002nhi.2_Missense_Mutation_p.Q205E|FCHO1_uc002nhj.2_Missense_Mutation_p.Q93E	p.Q749E	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			25	2434	+			749					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.2245C>G	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829853	0.16749	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.39787	1.06;1.06;1.06	3.64	1.37	0.22104	Muniscin C-terminal mu homology domain (1);	0.626865	0.15457	N	0.261356	T	0.19846	0.0477	N	0.17631	0.505	0.25002	N	0.991469	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.17137	-1.0379	10	0.13470	T	0.59	-10.9388	2.2055	0.03934	0.2036:0.4848:0.1978:0.1138	.	749;749	O14526;O14526-2	FCHO1_HUMAN;.	E	749	ENSP00000252771:Q749E;ENSP00000373785:Q749E;ENSP00000437978:Q749E	ENSP00000252771:Q749E	Q	+	1	0	FCHO1	17756552	0.000000	0.05858	0.918000	0.36340	0.975000	0.68041	-0.266000	0.08631	0.319000	0.23209	0.436000	0.28706	CAG		0.617	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2		NM_015122		26	72	0	0	0	1	0	26	72		
ZNF536	9745	broad.mit.edu	37	19	31039181	31039181	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:31039181G>A	ENST00000355537.3	+	4	2802	c.2655G>A	c.(2653-2655)ctG>ctA	p.L885L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	885					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGATGCTCTGAAAGGCACTG	0.552																																						uc002nsu.1		NaN																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(2653-2655)CTG>CTA		zinc finger protein 536							110.0	111.0	110.0					19																	31039181		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039181G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2655G>A	19.37:g.31039181G>A						ZNF536_uc010edd.1_Silent_p.L885L	p.L885L	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2793	+	Esophageal squamous(110;0.0834)		885					A2RU18	Silent	SNP	ENST00000355537.3	37	c.2655G>A	CCDS32984.1																																																																																				0.552	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		34	144	0	0	0	1	0	34	144		
TSHZ3	57616	broad.mit.edu	37	19	31768677	31768677	+	Silent	SNP	C	C	T	rs151270303	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:31768677C>T	ENST00000240587.4	-	2	2349	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	674					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACCCATCCCGCGGGGGGCTGG	0.657													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14853	0.001		0.0	False		,,,				2504	0.0					uc002nsy.3		NaN																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2020-2022)CCG>CCA		zinc finger protein 537		C		1,4393		0,1,2196	24.0	27.0	26.0		2022	-1.0	0.0	19	dbSNP_134	26	0,8578		0,0,4289	no	coding-synonymous	TSHZ3	NM_020856.2		0,1,6485	TT,TC,CC		0.0,0.0228,0.0077		674/1082	31768677	1,12971	2197	4289	6486	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768677C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2022G>A	19.37:g.31768677C>T							p.P674P	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2087	-	Esophageal squamous(110;0.226)		674					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2022G>A	CCDS12421.2																																																																																				0.657	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856		12	65	0	0	0	1	0	12	65		
PDCD2L	84306	broad.mit.edu	37	19	34912527	34912527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:34912527C>T	ENST00000246535.3	+	6	948	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	RN7SL154P_ENST00000578043.1_RNA|PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	301					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATTTGAGTTTCAGCTTATGCC	0.453																																						uc002nvj.2		NaN																	0				ovary(1)	1						c.(901-903)CAG>TAG		programmed cell death 2-like							139.0	141.0	140.0					19																	34912527		2203	4300	6503	SO:0001587	stop_gained	84306					cytoplasm		g.chr19:34912527C>T	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.901C>T	19.37:g.34912527C>T	ENSP00000246535:p.Gln301*						p.Q301*	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		6	934	+	Esophageal squamous(110;0.162)		301						Nonsense_Mutation	SNP	ENST00000246535.3	37	c.901C>T	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455799	0.96223	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.5174	19.208	0.93742	0.0:1.0:0.0:0.0	.	.	.	.	X	301	.	ENSP00000246535:Q301X	Q	+	1	0	PDCD2L	39604367	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.732000	0.68563	2.843000	0.97960	0.585000	0.79938	CAG		0.453	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3		NM_032346		54	142	0	0	0	1	0	54	142		
PDCD2L	84306	broad.mit.edu	37	19	34912556	34912556	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:34912556C>T	ENST00000246535.3	+	6	977	c.930C>T	c.(928-930)ctC>ctT	p.L310L	RN7SL154P_ENST00000578043.1_RNA|PDCD2L_ENST00000587065.2_Silent_p.L8L	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	310					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCAGCATGCTCAAGAGTGCTA	0.408																																						uc002nvj.2		NaN																	0				ovary(1)	1						c.(928-930)CTC>CTT		programmed cell death 2-like							117.0	120.0	119.0					19																	34912556		2203	4300	6503	SO:0001819	synonymous_variant	84306					cytoplasm		g.chr19:34912556C>T	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.930C>T	19.37:g.34912556C>T							p.L310L	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		6	963	+	Esophageal squamous(110;0.162)		310						Silent	SNP	ENST00000246535.3	37	c.930C>T	CCDS12438.1																																																																																				0.408	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3		NM_032346		50	137	0	0	0	1	0	50	137		
GAPDHS	26330	broad.mit.edu	37	19	36024442	36024442	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:36024442G>A	ENST00000222286.4	+	1	129	c.13G>A	c.(13-15)Gac>Aac	p.D5N		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	5	Testis-specific N-terminal extension.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTCGAAGCGCGACATCGTCCT	0.627																																						uc002oaf.1		NaN																	0					0						c.(13-15)GAC>AAC		glyceraldehyde-3-phosphate dehydrogenase,	NADH(DB00157)						121.0	78.0	92.0					19																	36024442		2203	4300	6503	SO:0001583	missense	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36024442G>A	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.13G>A	19.37:g.36024442G>A	ENSP00000222286:p.Asp5Asn						p.D5N	NM_014364	NP_055179	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	129	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		5					B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	37	c.13G>A	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386174	0.82902	.	.	ENSG00000105679	ENST00000222286	T	0.28895	1.59	4.54	4.54	0.55810	.	0.000000	0.36101	N	0.002799	T	0.38692	0.1050	N	0.19112	0.55	0.30762	N	0.743982	D	0.76494	0.999	D	0.72625	0.978	T	0.40175	-0.9577	10	0.87932	D	0	-32.9388	12.7568	0.57339	0.0:0.0:1.0:0.0	.	5	O14556	G3PT_HUMAN	N	5	ENSP00000222286:D5N	ENSP00000222286:D5N	D	+	1	0	GAPDHS	40716282	0.998000	0.40836	0.926000	0.36857	0.680000	0.39746	4.390000	0.59646	2.071000	0.62044	0.561000	0.74099	GAC		0.627	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1		NM_014364		20	59	0	0	0	1	0	20	59		
APLP1	333	broad.mit.edu	37	19	36365501	36365501	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:36365501C>T	ENST00000221891.4	+	9	1344	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Silent_p.I378I|APLP1_ENST00000537454.2_Silent_p.I345I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	384					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGCCCTTATCAACGACCAGC	0.662																																						uc002oce.2		NaN																	0				ovary(2)	2						c.(1150-1152)ATC>ATT		amyloid precursor-like protein 1 isoform 2							58.0	61.0	60.0					19																	36365501		2203	4300	6503	SO:0001819	synonymous_variant	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36365501C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1152C>T	19.37:g.36365501C>T						APLP1_uc010xsz.1_Silent_p.I345I|APLP1_uc002ocf.2_Silent_p.I384I|APLP1_uc002ocg.2_Silent_p.I287I|APLP1_uc010xta.1_Silent_p.I378I	p.I384I	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1290	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		384			Extracellular (Potential).		O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	c.1152C>T	CCDS32997.1																																																																																				0.662	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1		NM_001024807		22	99	0	0	0	1	0	22	99		
ZNF781	163115	broad.mit.edu	37	19	38160085	38160085	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:38160085G>A	ENST00000590008.1	-	5	1817	c.965C>T	c.(964-966)tCa>tTa	p.S322L	ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Missense_Mutation_p.S322L			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CATTATGCTTGAAGGCCTTCT	0.378																																						uc002ogy.2		NaN																	0					0						c.(964-966)TCA>TTA		zinc finger protein 781							149.0	144.0	146.0					19																	38160085		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160085G>A	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.965C>T	19.37:g.38160085G>A	ENSP00000466370:p.Ser322Leu					ZNF781_uc002ogz.2_Missense_Mutation_p.S317L	p.S322L	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN			4	1707	-			322					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.965C>T	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.581139	0.00879	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.04015	3.73	2.32	-3.73	0.04398	.	.	.	.	.	T	0.01940	0.0061	N	0.02158	-0.66	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46317	-0.9200	9	0.54805	T	0.06	-4.4246	8.7039	0.34343	0.6537:0.0:0.3463:0.0	.	322	Q8N8C0	ZN781_HUMAN	L	322	ENSP00000351391:S322L	ENSP00000351391:S322L	S	-	2	0	ZNF781	42851925	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.483000	0.06536	-0.849000	0.04158	-0.324000	0.08512	TCA		0.378	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2		NM_152605		64	115	0	0	0	1	0	64	115		
DPF1	8193	broad.mit.edu	37	19	38713255	38713255	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:38713255G>A	ENST00000420980.2	-	2	230	c.204C>T	c.(202-204)ctC>ctT	p.L68L	DPF1_ENST00000416611.1_Silent_p.L42L|DPF1_ENST00000355526.4_Silent_p.L68L|DPF1_ENST00000456296.1_Silent_p.L42L|DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000412732.1_5'UTR	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	68					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTGCGAGTCGAGGAAGGGCA	0.697																																						uc002ohl.2		NaN																	0					0						c.(202-204)CTC>CTT		D4, zinc and double PHD fingers family 1 isoform							25.0	26.0	26.0					19																	38713255		2202	4298	6500	SO:0001819	synonymous_variant	8193				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713255G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.204C>T	19.37:g.38713255G>A						DPF1_uc002ohm.2_Silent_p.L68L|DPF1_uc002ohn.2_5'UTR|DPF1_uc010xtu.1_Silent_p.L42L|DPF1_uc010xtv.1_Silent_p.L42L|DPF1_uc010xtw.1_Silent_p.L42L	p.L68L	NM_004647	NP_004638	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	231	-	all_cancers(60;1.24e-06)		68					B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	c.204C>T	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	g	35	5.470182	0.96274	.	.	ENSG00000011332	ENST00000355526	.	.	.	3.36	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.3092	5.5675	0.17179	0.1189:0.3443:0.5368:0.0	.	.	.	.	X	61	.	.	R	-	1	2	DPF1	43405095	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-3.214000	0.00555	0.763000	0.33175	0.394000	0.25966	CGA		0.697	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1				4	9	0	0	0	1	0	4	9		
SUPT5H	6829	broad.mit.edu	37	19	39963713	39963713	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:39963713C>A	ENST00000599117.1	+	24	2584	c.2217C>A	c.(2215-2217)acC>acA	p.T739T	SUPT5H_ENST00000402194.2_Silent_p.T735T|SUPT5H_ENST00000432763.2_Silent_p.T739T|SUPT5H_ENST00000598725.1_Silent_p.T739T|SUPT5H_ENST00000359191.6_Silent_p.T735T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	739					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCACTCCACCTGCCAGACCA	0.667																																						uc002olo.3		NaN																	0				ovary(3)|pancreas(1)	4						c.(2215-2217)ACC>ACA		suppressor of Ty 5 homolog isoform a							51.0	46.0	47.0					19																	39963713		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39963713C>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2217C>A	19.37:g.39963713C>A						SUPT5H_uc002olp.3_Silent_p.T739T|SUPT5H_uc002olq.3_Silent_p.T735T|SUPT5H_uc002oln.3_Silent_p.T739T|SUPT5H_uc002olr.3_Silent_p.T739T|SUPT5H_uc002ols.1_Silent_p.T362T|SUPT5H_uc010egp.1_Silent_p.T105T	p.T739T	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		23	2396	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		739					O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.2217C>A	CCDS12536.1																																																																																				0.667	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1		NM_003169		10	57	1	0	0.000673444	1	0.000690993	10	57		
SUPT5H	6829	broad.mit.edu	37	19	39963872	39963872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:39963872C>A	ENST00000599117.1	+	25	2655	c.2288C>A	c.(2287-2289)tCg>tAg	p.S763*	SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.S759*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.S763*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.S763*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.S759*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	763	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCATGACCTCGACCTATGGG	0.652																																						uc002olo.3		NaN																	0				ovary(3)|pancreas(1)	4						c.(2287-2289)TCG>TAG		suppressor of Ty 5 homolog isoform a							51.0	58.0	56.0					19																	39963872		2203	4300	6503	SO:0001587	stop_gained	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39963872C>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2288C>A	19.37:g.39963872C>A	ENSP00000470252:p.Ser763*					SUPT5H_uc002olp.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002olq.3_Nonsense_Mutation_p.S759*|SUPT5H_uc002oln.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002olr.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002ols.1_Nonsense_Mutation_p.S386*|SUPT5H_uc010egp.1_Silent_p.L128L	p.S763*	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		24	2467	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		763			CTR1-2.|9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.		O43279|Q59G52|Q99639	Nonsense_Mutation	SNP	ENST00000599117.1	37	c.2288C>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	40	8.343757	0.98769	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.62	4.62	0.57501	.	0.130278	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.6389	16.2395	0.82399	0.0:1.0:0.0:0.0	.	.	.	.	X	763;759;741;763	.	.	S	+	2	0	SUPT5H	44655712	1.000000	0.71417	0.891000	0.34965	0.715000	0.41141	7.168000	0.77570	2.119000	0.64992	0.557000	0.71058	TCG		0.652	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1		NM_003169		16	92	1	0	5.01169e-05	1	5.22743e-05	16	92		
SELV	348303	broad.mit.edu	37	19	40009746	40009746	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:40009746G>A	ENST00000335426.4	+	5	1099	c.999G>A	c.(997-999)caG>caA	p.Q333Q	SELV_ENST00000423711.1_Silent_p.Q333Q	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		333					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAGGCTGCAGAAAATTGTGA	0.597																																						uc010xvc.1		NaN																	0					0						c.(997-999)CAG>CAA		selenoprotein V							74.0	77.0	76.0					19																	40009746		2030	4175	6205	SO:0001819	synonymous_variant	348303				cell redox homeostasis		selenium binding	g.chr19:40009746G>A																												ENST00000335426.4:c.999G>A	19.37:g.40009746G>A							p.Q333Q	NM_182704	NP_874363	P59797	SELV_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		6	1099	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		333					Q17RG5	Silent	SNP	ENST00000335426.4	37	c.999G>A	CCDS54266.1																																																																																				0.597	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389802.1				10	61	0	0	0	1	0	10	61		
PLD3	23646	broad.mit.edu	37	19	40872415	40872415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:40872415G>T	ENST00000409587.1	+	3	422	c.25G>T	c.(25-27)Gag>Tag	p.E9*	PLD3_ENST00000409735.4_Nonsense_Mutation_p.E9*|PLD3_ENST00000356508.5_Nonsense_Mutation_p.E9*|PLD3_ENST00000409419.1_Nonsense_Mutation_p.E9*|PLD3_ENST00000409281.1_Nonsense_Mutation_p.E9*			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	9					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GATGTACCAGGAGGTAGGTGG	0.597																																						uc002onm.3		NaN																	0				skin(2)|ovary(1)	3						c.(25-27)GAG>TAG		phospholipase D3							65.0	64.0	65.0					19																	40872415		2203	4300	6503	SO:0001587	stop_gained	23646				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40872415G>T	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.25G>T	19.37:g.40872415G>T	ENSP00000387050:p.Glu9*					PLD3_uc002onj.3_Nonsense_Mutation_p.E9*|PLD3_uc002onk.3_Nonsense_Mutation_p.E9*|PLD3_uc002onl.3_Nonsense_Mutation_p.E9*|PLD3_uc002onn.2_Nonsense_Mutation_p.E9*|PLD3_uc002ono.2_Nonsense_Mutation_p.E9*	p.E9*	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		3	423	+			9			Cytoplasmic (Potential).		Q92853|Q9BW87	Nonsense_Mutation	SNP	ENST00000409587.1	37	c.25G>T	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	G	39	7.307334	0.98200	.	.	ENSG00000105223	ENST00000392032;ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281;ENST00000359274	.	.	.	4.85	3.72	0.42706	.	0.318460	0.29046	N	0.013309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-7.3319	10.91	0.47103	0.0:0.2734:0.7266:0.0	.	.	.	.	X	9	.	ENSP00000348901:E9X	E	+	1	0	PLD3	45564255	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.100000	0.41777	2.626000	0.88956	0.655000	0.94253	GAG		0.597	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1		NM_012268		20	55	1	0	7.45023e-12	1	8.35168e-12	20	55		
CYP2A13	1553	broad.mit.edu	37	19	41594955	41594955	+	Missense_Mutation	SNP	G	G	A	rs148044792		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41594955G>A	ENST00000330436.3	+	2	302	c.302G>A	c.(301-303)cGa>cAa	p.R101Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	101			R -> Q (in allele CYP2A13*4). {ECO:0000269|PubMed:15618722}.		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TTCAGCGGGCGAGGCGAGCAG	0.642																																						uc002opt.2		NaN																	0				ovary(2)|skin(1)	3	GRCh37	CM067778	CYP2A13	M	rs148044792	c.(301-303)CGA>CAA		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)	G	GLN/ARG	0,4404		0,0,2202	60.0	56.0	57.0		302	2.5	0.4	19	dbSNP_134	57	1,8551		0,1,4275	no	missense	CYP2A13	NM_000766.3	43	0,1,6477	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	101/495	41594955	1,12955	2202	4276	6478	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594955G>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.302G>A	19.37:g.41594955G>A	ENSP00000332679:p.Arg101Gln						p.R101Q	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			2	311	+			101		R -> Q (in allele CYP2A13*4).			Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.302G>A	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.920515	0.33908	0.0	1.17E-4	ENSG00000197838	ENST00000330436	T	0.71817	-0.6	3.49	2.45	0.29901	.	0.000000	0.64402	U	0.000001	D	0.86397	0.5923	H	0.94503	3.545	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.78295	-0.2259	10	0.87932	D	0	.	10.8681	0.46866	0.0996:0.0:0.9004:0.0	.	101	Q16696	CP2AD_HUMAN	Q	101	ENSP00000332679:R101Q	ENSP00000332679:R101Q	R	+	2	0	CYP2A13	46286795	0.981000	0.34729	0.382000	0.26119	0.103000	0.19146	5.621000	0.67743	0.787000	0.33731	-0.763000	0.03452	CGA		0.642	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1		NM_000766		16	65	0	0	0	1	0	16	65		
CYP2F1	1572	broad.mit.edu	37	19	41633861	41633861	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41633861C>A	ENST00000331105.2	+	10	1422	c.1350C>A	c.(1348-1350)ctC>ctA	p.L450L		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	450					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TTCTGTACCTCACCGCCATCC	0.647																																						uc002opu.1		NaN																	0					0						c.(1348-1350)CTC>CTA		cytochrome P450, family 2, subfamily F,							14.0	16.0	16.0					19																	41633861		2198	4285	6483	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41633861C>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1350C>A	19.37:g.41633861C>A						CYP2F1_uc010xvw.1_Intron|CYP2F1_uc002opv.1_RNA	p.L450L	NM_000774	NP_000765	P24903	CP2F1_HUMAN			10	1406	+			450					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1350C>A	CCDS12572.1																																																																																				0.647	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2				3	17	1	0	0.004672	1	0.00473971	3	17		
CYP2S1	29785	broad.mit.edu	37	19	41709440	41709440	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41709440C>T	ENST00000310054.4	+	7	1278	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	CYP2S1_ENST00000542619.1_Silent_p.D79D	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	354					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTTACACCGACGCGGTTCTGC	0.672																																						uc002opw.2		NaN																	0				skin(1)	1						c.(1060-1062)GAC>GAT		cytochrome P450, family 2, subfamily S,							29.0	25.0	26.0					19																	41709440		2202	4298	6500	SO:0001819	synonymous_variant	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41709440C>T	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.1062C>T	19.37:g.41709440C>T						CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Silent_p.D79D	p.D354D	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN			7	1117	+			354					Q9BZ66	Silent	SNP	ENST00000310054.4	37	c.1062C>T	CCDS12573.1																																																																																				0.672	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1				4	12	0	0	0	1	0	4	12		
ARHGEF1	9138	broad.mit.edu	37	19	42399472	42399472	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:42399472C>T	ENST00000354532.3	+	12	1076	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R325W|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R277W|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R310W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R292W	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	310					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GATGCCCTCTCGGGACCGGAA	0.607																																						uc002orx.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(928-930)CGG>TGG		Rho guanine nucleotide exchange factor 1 isoform							76.0	82.0	80.0					19																	42399472		2203	4300	6503	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42399472C>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.928C>T	19.37:g.42399472C>T	ENSP00000346532:p.Arg310Trp					ARHGEF1_uc002orw.1_Missense_Mutation_p.R310W|ARHGEF1_uc002ory.2_Missense_Mutation_p.R277W|ARHGEF1_uc002orz.2_Missense_Mutation_p.R148W|ARHGEF1_uc002osa.2_Missense_Mutation_p.R325W|ARHGEF1_uc002osb.2_Missense_Mutation_p.R292W|ARHGEF1_uc002osc.2_Missense_Mutation_p.R4W|ARHGEF1_uc002osd.2_5'Flank	p.R310W	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	12	1037	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	310					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.928C>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895137	0.72639	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	T;T;T;T	0.66099	-0.03;-0.02;-0.04;-0.19	4.99	4.99	0.66335	.	0.333668	0.26428	N	0.024425	T	0.68320	0.2988	L	0.27053	0.805	0.36544	D	0.87147	D;D;D;B;D	0.89917	1.0;1.0;1.0;0.316;1.0	D;D;D;B;D	0.85130	0.928;0.976;0.997;0.025;0.982	T	0.75869	-0.3165	10	0.87932	D	0	-25.9581	14.1911	0.65639	0.0:1.0:0.0:0.0	.	292;325;277;310;370	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	W	310;277;346;325;292	ENSP00000346532:R310W;ENSP00000344429:R277W;ENSP00000337261:R325W;ENSP00000367394:R292W	ENSP00000323044:R346W	R	+	1	2	ARHGEF1	47091312	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	2.079000	0.41577	2.490000	0.84030	0.555000	0.69702	CGG		0.607	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1		NM_199002		50	103	0	0	0	1	0	50	103		
ARHGEF1	9138	broad.mit.edu	37	19	42410099	42410099	+	Missense_Mutation	SNP	G	G	A	rs376841668		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:42410099G>A	ENST00000354532.3	+	26	2561	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E820K|CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E772K|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.E861K|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E787K	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	805					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGCCCGGACCGAGAGAATCCT	0.672																																						uc002orx.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(2413-2415)GAG>AAG		Rho guanine nucleotide exchange factor 1 isoform			LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	65.0	65.0	65.0		2413,2314,2458	4.0	0.4	19		65	1,8599		0,1,4299	no	missense,missense,missense	ARHGEF1	NM_004706.3,NM_198977.1,NM_199002.1	56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	805/913,772/880,820/928	42410099	1,13005	2203	4300	6503	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42410099G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2413G>A	19.37:g.42410099G>A	ENSP00000346532:p.Glu805Lys					ARHGEF1_uc002ory.2_Missense_Mutation_p.E772K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E643K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E820K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E787K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E559K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E464K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E249K	p.E805K	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	26	2522	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	805					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.2413G>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909717	0.72983	0.0	1.16E-4	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.69040	-0.29;-0.25;-0.29;-0.37	3.95	3.95	0.45737	.	0.000000	0.56097	D	0.000039	T	0.70859	0.3272	L	0.32530	0.975	0.32385	N	0.554056	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.981;0.992;0.992;0.981	T	0.74836	-0.3529	10	0.41790	T	0.15	-23.1428	11.9161	0.52765	0.0:0.0:1.0:0.0	.	787;820;772;805	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	K	805;772;820;787	ENSP00000346532:E805K;ENSP00000344429:E772K;ENSP00000337261:E820K;ENSP00000367394:E787K	ENSP00000337261:E820K	E	+	1	0	ARHGEF1	47101939	0.977000	0.34250	0.360000	0.25837	0.805000	0.45488	2.610000	0.46325	1.925000	0.55765	0.550000	0.68814	GAG		0.672	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1		NM_199002		21	67	0	0	0	1	0	21	67		
CEACAM1	634	broad.mit.edu	37	19	43026086	43026086	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:43026086C>T	ENST00000161559.6	-	3	827	c.693G>A	c.(691-693)ttG>ttA	p.L231L	CEACAM1_ENST00000352591.5_Silent_p.L231L|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000599389.1_Silent_p.L231L|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000308072.4_Silent_p.L191L|CEACAM1_ENST00000403444.3_Silent_p.L231L|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Silent_p.L231L|CEACAM1_ENST00000358394.3_Silent_p.L231L	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	231	Ig-like C2-type 1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGGTGACATTCAAGGTGACTG	0.552																																						uc002otv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(691-693)TTG>TTA		carcinoembryonic antigen-related cell adhesion	Arcitumomab(DB00113)						173.0	157.0	163.0					19																	43026086		2203	4300	6503	SO:0001819	synonymous_variant	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43026086C>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.693G>A	19.37:g.43026086C>T						uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Silent_p.L231L|CEACAM1_uc010eij.2_Silent_p.L231L|CEACAM1_uc002otx.2_Silent_p.L231L|CEACAM1_uc002oty.2_Silent_p.L231L|CEACAM1_uc002otz.2_Silent_p.L231L|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Silent_p.L231L|CEACAM1_uc002oub.2_Silent_p.L231L|CEACAM1_uc002ouc.2_Silent_p.L231L	p.L231L	NM_001712	NP_001703	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	3	806	-		Prostate(69;0.00682)	231			Ig-like C2-type 1.|Extracellular (Potential).		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	ENST00000161559.6	37	c.693G>A	CCDS12609.1																																																																																				0.552	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2		NM_001712		28	184	0	0	0	1	0	28	184		
SMG9	56006	broad.mit.edu	37	19	44244303	44244303	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:44244303C>G	ENST00000270066.6	-	7	1111	c.769G>C	c.(769-771)Gac>Cac	p.D257H	SMG9_ENST00000601170.1_Missense_Mutation_p.D257H	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	257					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						ATAAAGAAGTCGATGCCACTG	0.572																																						uc002oxj.2		NaN																	0					0						c.(769-771)GAC>CAC		SMG9 protein							143.0	118.0	126.0					19																	44244303		2203	4300	6503	SO:0001583	missense	56006				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	g.chr19:44244303C>G	BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.769G>C	19.37:g.44244303C>G	ENSP00000270066:p.Asp257His					C19orf61_uc002oxk.2_Missense_Mutation_p.D257H|C19orf61_uc010eiy.1_Missense_Mutation_p.D257H	p.D257H	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN			7	1112	-		Prostate(69;0.0352)	257					O60429|Q9H9A9	Missense_Mutation	SNP	ENST00000270066.6	37	c.769G>C	CCDS33043.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170751	0.78452	.	.	ENSG00000105771	ENST00000270066	T	0.41400	1.0	5.18	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.63655	-0.6588	10	0.51188	T	0.08	-3.8745	12.4813	0.55844	0.1684:0.8316:0.0:0.0	.	257;257	Q9H0W8-2;Q9H0W8	.;SMG9_HUMAN	H	257	ENSP00000270066:D257H	ENSP00000270066:D257H	D	-	1	0	SMG9	48936143	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	6.548000	0.73896	1.348000	0.45733	0.591000	0.81541	GAC		0.572	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1		NM_019108		40	103	0	0	0	1	0	40	103		
ZNF225	7768	broad.mit.edu	37	19	44636229	44636229	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:44636229G>C	ENST00000262894.6	+	5	1742	c.1462G>C	c.(1462-1464)Gaa>Caa	p.E488Q	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.E488Q	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TAAATGTGAAGAATGTGGGAA	0.393																																						uc002oyj.1		NaN																	0					0						c.(1462-1464)GAA>CAA		zinc finger protein 225							64.0	71.0	69.0					19																	44636229		2191	4298	6489	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636229G>C	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1462G>C	19.37:g.44636229G>C	ENSP00000262894:p.Glu488Gln					ZNF225_uc010eje.1_Missense_Mutation_p.E405Q|ZNF225_uc010ejf.1_Missense_Mutation_p.E488Q	p.E488Q	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN			5	1705	+		Prostate(69;0.0352)|all_neural(266;0.202)	488			C2H2-type 12.		A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.1462G>C	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	G	3.553	-0.091360	0.07053	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.37411	1.2	2.89	-1.16	0.09678	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33352	0.0860	N	0.20357	0.565	0.09310	N	1	D	0.56035	0.974	P	0.58454	0.839	T	0.26608	-1.0098	9	0.40728	T	0.16	.	7.179	0.25761	0.1164:0.4147:0.4688:0.0	.	488	Q9UK10	ZN225_HUMAN	Q	488;452	ENSP00000262894:E488Q	ENSP00000262894:E488Q	E	+	1	0	ZNF225	49328069	0.000000	0.05858	0.000000	0.03702	0.907000	0.53573	-0.780000	0.04654	0.067000	0.16545	-0.305000	0.09177	GAA		0.393	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1				27	83	0	0	0	1	0	27	83		
ARHGAP35	2909	broad.mit.edu	37	19	47423577	47423577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:47423577C>G	ENST00000404338.3	+	1	1645	c.1645C>G	c.(1645-1647)Cat>Gat	p.H549D		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	549	FF 4.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GAAACACATTCATTTTGTGTA	0.473																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(1645-1647)CAT>GAT		glucocorticoid receptor DNA binding factor 1							140.0	140.0	140.0					19																	47423577		2032	4191	6223	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423577C>G	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1645C>G	19.37:g.47423577C>G	ENSP00000385720:p.His549Asp						p.H549D	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	1645	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	549					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.1645C>G	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377407	0.42105	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.07021	3.23	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.18383	0.0441	M	0.63428	1.95	0.58432	D	0.999995	P	0.45768	0.866	P	0.48598	0.583	T	0.00182	-1.1946	10	0.34782	T	0.22	-30.3798	18.8644	0.92285	0.0:1.0:0.0:0.0	.	549	Q9NRY4-2	.	D	549	ENSP00000385720:H549D	ENSP00000324820:H549D	H	+	1	0	ARHGAP35	52115417	0.997000	0.39634	0.994000	0.49952	0.997000	0.91878	3.298000	0.51818	2.756000	0.94617	0.561000	0.74099	CAT		0.473	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		80	116	0	0	0	1	0	80	116		
NAPA	8775	broad.mit.edu	37	19	47991562	47991562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:47991562C>T	ENST00000263354.3	-	11	1170	c.871G>A	c.(871-873)Gag>Aag	p.E291K	NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Missense_Mutation_p.E252K	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	291					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		AGGTCCTCCTCATCGCCCTGG	0.632																																					Ovarian(185;1135 2042 27703 31345 42493)	uc002pha.1		NaN																	0					0						c.(871-873)GAG>AAG		N-ethylmaleimide-sensitive factor attachment							124.0	100.0	109.0					19																	47991562		2203	4300	6503	SO:0001583	missense	8775				cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		g.chr19:47991562C>T	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.871G>A	19.37:g.47991562C>T	ENSP00000263354:p.Glu291Lys					uc002pgz.1_Intron|NAPA_uc002phb.1_Missense_Mutation_p.E252K|NAPA_uc002phc.1_Missense_Mutation_p.E178K|NAPA_uc002phd.1_Missense_Mutation_p.E291K	p.E291K	NM_003827	NP_003818	P54920	SNAA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)	11	1171	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	291					A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	ENST00000263354.3	37	c.871G>A	CCDS12702.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476149	0.63737	.	.	ENSG00000105402	ENST00000263354	T	0.77877	-1.13	5.03	5.03	0.67393	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.89095	3.005	0.80722	D	1	P	0.37500	0.597	P	0.44860	0.462	D	0.86531	0.1822	10	0.48119	T	0.1	-23.0314	17.2762	0.87116	0.0:1.0:0.0:0.0	.	291	P54920	SNAA_HUMAN	K	291	ENSP00000263354:E291K	ENSP00000263354:E291K	E	-	1	0	NAPA	52683374	1.000000	0.71417	0.960000	0.40013	0.087000	0.18053	7.336000	0.79245	2.614000	0.88457	0.655000	0.94253	GAG		0.632	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2		NM_003827		17	70	0	0	0	1	0	17	70		
SPHK2	56848	broad.mit.edu	37	19	49132306	49132306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49132306C>A	ENST00000245222.4	+	7	1607	c.1241C>A	c.(1240-1242)tCa>tAa	p.S414*	SPHK2_ENST00000600537.1_Nonsense_Mutation_p.S355*|SPHK2_ENST00000598088.1_Nonsense_Mutation_p.S414*|SPHK2_ENST00000340932.3_Nonsense_Mutation_p.S376*|SPHK2_ENST00000599748.1_Nonsense_Mutation_p.S378*|SPHK2_ENST00000443164.1_Nonsense_Mutation_p.S476*|SPHK2_ENST00000599029.1_Nonsense_Mutation_p.S378*	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	414					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		atggcccactcacccctgcat	0.677																																						uc002pjr.2		NaN																	0				lung(1)	1						c.(1240-1242)TCA>TAA		sphingosine kinase 2							25.0	26.0	26.0					19																	49132306		2202	4298	6500	SO:0001587	stop_gained	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132306C>A	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1241C>A	19.37:g.49132306C>A	ENSP00000245222:p.Ser414*					SPHK2_uc010xzt.1_Nonsense_Mutation_p.S355*|SPHK2_uc002pjs.2_Nonsense_Mutation_p.S414*|SPHK2_uc002pjt.2_Nonsense_Mutation_p.S208*|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Nonsense_Mutation_p.S378*|SPHK2_uc002pjw.2_Nonsense_Mutation_p.S476*	p.S414*	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	1607	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	414					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Nonsense_Mutation	SNP	ENST00000245222.4	37	c.1241C>A	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	C	40	8.214543	0.98709	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	.	.	.	4.37	3.33	0.38152	.	0.358295	0.25642	N	0.029280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.0952	9.9541	0.41655	0.0:0.8991:0.0:0.1009	.	.	.	.	X	414;387;376;476	.	ENSP00000245222:S414X	S	+	2	0	SPHK2	53824118	0.015000	0.18098	0.981000	0.43875	0.990000	0.78478	1.287000	0.33284	1.196000	0.43129	0.655000	0.94253	TCA		0.677	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1				17	21	1	0	4.7546e-09	1	5.20035e-09	17	21		
RUVBL2	10856	broad.mit.edu	37	19	49514296	49514296	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49514296C>T	ENST00000595090.1	+	10	1292	c.828C>T	c.(826-828)atC>atT	p.I276I	RUVBL2_ENST00000413176.2_Silent_p.I231I|RUVBL2_ENST00000601968.1_Silent_p.I231I	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	276					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GTGAGCAGATCAATGCCAAGG	0.637																																						uc002plr.1		NaN																	0					0						c.(826-828)ATC>ATT		RuvB-like 2							41.0	48.0	45.0					19																	49514296		2125	4252	6377	SO:0001819	synonymous_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49514296C>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.828C>T	19.37:g.49514296C>T						RUVBL2_uc002plq.1_Silent_p.I231I|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Silent_p.I231I|RUVBL2_uc010yac.1_Silent_p.I231I	p.I276I	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	10	841	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	276					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	ENST00000595090.1	37	c.828C>T	CCDS42588.1																																																																																				0.637	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1				6	23	0	0	0	1	0	6	23		
CD37	951	broad.mit.edu	37	19	49842010	49842010	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49842010G>A	ENST00000323906.4	+	6	642	c.501G>A	c.(499-501)ctG>ctA	p.L167L	CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000535669.2_Silent_p.L167L|CD37_ENST00000426897.2_Silent_p.L99L|CD37_ENST00000598095.1_Silent_p.L99L	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	167					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		TCCTCATCCTGAGAGGTAACG	0.607																																						uc002pnd.2		NaN																	0					0						c.(499-501)CTG>CTA		CD37 antigen isoform A							73.0	64.0	67.0					19																	49842010		2203	4300	6503	SO:0001819	synonymous_variant	951					integral to membrane		g.chr19:49842010G>A		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.501G>A	19.37:g.49842010G>A						uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Silent_p.L167L|CD37_uc010yan.1_Silent_p.L99L|CD37_uc002pnf.3_Silent_p.L139L|CD37_uc002pne.2_Silent_p.L99L	p.L167L	NM_001774	NP_001765	P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	6	622	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	167			Extracellular (Potential).		B4DVC1|Q3KPF9	Silent	SNP	ENST00000323906.4	37	c.501G>A	CCDS12760.1																																																																																				0.607	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1				19	108	0	0	0	1	0	19	108		
FCGRT	2217	broad.mit.edu	37	19	50017149	50017149	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:50017149C>T	ENST00000221466.5	+	3	570	c.84C>T	c.(82-84)ctC>ctT	p.L28L	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Silent_p.L28L|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Silent_p.L28L	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	28	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		AAAGCCACCTCTCCCTCCTGT	0.612																																						uc002poe.2		NaN																	0				ovary(1)	1						c.(82-84)CTC>CTT		Fc fragment of IgG, receptor, transporter, alpha							174.0	172.0	173.0					19																	50017149		2203	4300	6503	SO:0001819	synonymous_variant	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50017149C>T	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.84C>T	19.37:g.50017149C>T						FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Silent_p.L28L|FCGRT_uc002pof.1_5'UTR|FCGRT_uc010yax.1_Silent_p.L28L|FCGRT_uc002poh.1_5'Flank	p.L28L	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	3	570	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	28			Extracellular (Potential).|Alpha-1.		Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	ENST00000221466.5	37	c.84C>T	CCDS12770.1																																																																																				0.612	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1				72	223	0	0	0	1	0	72	223		
SHANK1	50944	broad.mit.edu	37	19	51169834	51169834	+	Missense_Mutation	SNP	C	C	G	rs368817818		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:51169834C>G	ENST00000293441.1	-	22	5401	c.5383G>C	c.(5383-5385)Gat>Cat	p.D1795H	SHANK1_ENST00000391813.1_Missense_Mutation_p.D1182H|SHANK1_ENST00000359082.3_Missense_Mutation_p.D1786H|SHANK1_ENST00000391814.1_Missense_Mutation_p.D1803H|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1795					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCAGCCCATCGGTTCCAGCC	0.721																																						uc002psx.1		NaN																	0				large_intestine(2)	2						c.(5383-5385)GAT>CAT		SH3 and multiple ankyrin repeat domains 1							5.0	7.0	6.0					19																	51169834		1809	3776	5585	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51169834C>G	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5383G>C	19.37:g.51169834C>G	ENSP00000293441:p.Asp1795His					SHANK1_uc002psw.1_Missense_Mutation_p.D1179H	p.D1795H	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	5402	-		all_neural(266;0.057)	1795					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.5383G>C	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	9.462	1.093396	0.20471	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.43688	1.06;1.52;1.07;0.94	2.35	2.35	0.29111	.	1.705140	0.03873	U	0.275882	T	0.57388	0.2050	L	0.52573	1.65	0.34815	D	0.738131	D;D	0.64830	0.981;0.994	P;P	0.61328	0.647;0.887	T	0.53872	-0.8377	10	0.66056	D	0.02	.	9.8859	0.41262	0.0:1.0:0.0:0.0	.	1795;1182	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	H	1795;1182;1786;1803	ENSP00000293441:D1795H;ENSP00000375689:D1182H;ENSP00000351984:D1786H;ENSP00000375690:D1803H	ENSP00000293441:D1795H	D	-	1	0	SHANK1	55861646	0.900000	0.30661	0.995000	0.50966	0.821000	0.46438	2.452000	0.44961	1.334000	0.45468	0.195000	0.17529	GAT		0.721	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		NM_016148		4	18	0	0	0	1	0	4	18		
ZNF577	84765	broad.mit.edu	37	19	52375790	52375790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:52375790C>A	ENST00000301399.5	-	7	1818	c.1453G>T	c.(1453-1455)Gaa>Taa	p.E485*	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Nonsense_Mutation_p.E426*|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.E426*	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAGATTTATTCTGATACAATA	0.373																																						uc010yde.1		NaN																	0				ovary(1)	1						c.(1453-1455)GAA>TAA		zinc finger protein 577 isoform a							30.0	31.0	31.0					19																	52375790		2198	4300	6498	SO:0001587	stop_gained	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52375790C>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1453G>T	19.37:g.52375790C>A	ENSP00000301399:p.Glu485*					ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Nonsense_Mutation_p.E426*|ZNF577_uc002pxv.2_Nonsense_Mutation_p.E478*|ZNF577_uc002pxw.2_Nonsense_Mutation_p.E419*	p.E485*	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	7	1844	-		all_neural(266;0.0602)	485					A8K0B4|A8K6Z7|C9JFB9	Nonsense_Mutation	SNP	ENST00000301399.5	37	c.1453G>T	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	26.9	4.781562	0.90282	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628	.	.	.	3.04	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.5292	0.16974	0.0:0.8131:0.0:0.1869	.	.	.	.	X	485;426;426	.	ENSP00000301399:E485X	E	-	1	0	ZNF577	57067602	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.208000	0.09371	0.526000	0.28541	0.655000	0.94253	GAA		0.373	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1		NM_032679		5	18	1	0	0.014758	1	0.0149118	5	18		
PPP2R1A	5518	broad.mit.edu	37	19	52719907	52719907	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:52719907G>A	ENST00000322088.6	+	9	1177	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	PPP2R1A_ENST00000462990.1_Silent_p.L194L|PPP2R1A_ENST00000444322.2_Silent_p.L318L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	373	PP2A subunit B binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGCTCAGCTGAAGGATGAGG	0.547			Mis		clear cell ovarian carcinoma																																	uc002pyp.2		NaN		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1117-1119)CTG>CTA		alpha isoform of regulatory subunit A, protein							104.0	83.0	90.0					19																	52719907		2203	4300	6503	SO:0001819	synonymous_variant	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52719907G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1119G>A	19.37:g.52719907G>A						PPP2R1A_uc010ydk.1_Silent_p.L318L|PPP2R1A_uc010epm.1_Silent_p.L413L|PPP2R1A_uc002pyq.2_Silent_p.L194L	p.L373L	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	9	1278	+			373			PP2A subunit B binding.|HEAT 10.		Q13773|Q6ICQ3|Q96DH3	Silent	SNP	ENST00000322088.6	37	c.1119G>A	CCDS12849.1																																																																																				0.547	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2		NM_014225		30	50	0	0	0	1	0	30	50		
ZNF578	147660	broad.mit.edu	37	19	53013953	53013953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:53013953G>A	ENST00000421239.2	+	6	563	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CCAGGAAATTGAAAAAGATAT	0.398																																						uc002pzp.3		NaN																	0					0						c.(319-321)GAA>AAA		zinc finger protein 578							91.0	96.0	94.0					19																	53013953		2198	4297	6495	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53013953G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.319G>A	19.37:g.53013953G>A	ENSP00000459216:p.Glu107Lys						p.E107K	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	563	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.319G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	9.075	0.997923	0.19043	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.72	-3.43	0.04810	.	.	.	.	.	T	0.23370	0.0565	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.22208	-1.0223	7	.	.	.	.	3.8895	0.09113	0.0:0.2997:0.3904:0.3099	.	107	G3V4F6	.	K	107	.	.	E	+	1	0	ZNF578	57705765	0.000000	0.05858	0.000000	0.03702	0.391000	0.30476	-2.326000	0.01114	-0.734000	0.04843	0.134000	0.15878	GAA		0.398	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3		NM_152472		63	166	0	0	0	1	0	63	166		
ZNF813	126017	broad.mit.edu	37	19	53995335	53995335	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:53995335A>G	ENST00000396403.4	+	4	1977	c.1849A>G	c.(1849-1851)Aat>Gat	p.N617D	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAAAGCTTTTAATTGAAAAGC	0.373																																						uc002qbu.2		NaN																	0				large_intestine(1)	1						c.(1849-1851)AAT>GAT		zinc finger protein 813							30.0	32.0	31.0					19																	53995335		2164	4277	6441	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53995335A>G	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1849A>G	19.37:g.53995335A>G	ENSP00000379684:p.Asn617Asp					ZNF813_uc010eqq.1_Intron	p.N617D	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1977	+			617						Missense_Mutation	SNP	ENST00000396403.4	37	c.1849A>G	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	a	7.235	0.600105	0.13939	.	.	ENSG00000198346	ENST00000396403	T	0.05382	3.45	1.05	1.05	0.20165	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.16037	0.36	0.09310	N	1	P	0.39424	0.673	B	0.36608	0.229	T	0.39057	-0.9632	9	0.87932	D	0	.	1.4468	0.02366	0.4438:0.0:0.2386:0.3176	.	617	Q6ZN06	ZN813_HUMAN	D	617	ENSP00000379684:N617D	ENSP00000379684:N617D	N	+	1	0	ZNF813	58687147	0.011000	0.17503	0.057000	0.19452	0.065000	0.16274	-0.163000	0.09997	0.106000	0.17784	0.104000	0.15600	AAT		0.373	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1		NM_001004301		7	30	0	0	0	1	0	7	30		
OSCAR	126014	broad.mit.edu	37	19	54600327	54600327	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:54600327G>A	ENST00000284648.6	-	4	392	c.195C>T	c.(193-195)ttC>ttT	p.F65F	OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000358375.4_Silent_p.F65F|OSCAR_ENST00000356532.3_Silent_p.F69F|OSCAR_ENST00000359649.4_Silent_p.F69F|OSCAR_ENST00000351806.4_Silent_p.F54F|OSCAR_ENST00000391761.1_Silent_p.F54F			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	65	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CTCCAGGCTTGAAAAGTCCAA	0.587																																						uc002qdd.2		NaN																	0					0						c.(268-270)TTC>TTT		osteoclast-associated receptor isoform 1							72.0	75.0	74.0					19																	54600327		2203	4300	6503	SO:0001819	synonymous_variant	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54600327G>A	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.195C>T	19.37:g.54600327G>A						OSCAR_uc002qcy.2_Silent_p.F69F|OSCAR_uc002qcz.2_Silent_p.F65F|OSCAR_uc002qda.2_Silent_p.F69F|OSCAR_uc002qdb.2_Silent_p.F54F|OSCAR_uc010erc.2_Nonsense_Mutation_p.Q33*|OSCAR_uc002qdc.2_Silent_p.F79F	p.F90F	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN			4	387	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		65			Ig-like 1.		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Silent	SNP	ENST00000284648.6	37	c.270C>T																																																																																					0.587	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4		NM_133169		45	118	0	0	0	1	0	45	118		
PRPF31	26121	broad.mit.edu	37	19	54627903	54627903	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:54627903C>G	ENST00000321030.4	+	8	1072	c.723C>G	c.(721-723)ctC>ctG	p.L241L	PRPF31_ENST00000391755.1_Silent_p.L241L|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.L241L	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	241	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGACCAACCTCTCCAAGATGC	0.647																																						uc002qdh.2		NaN																	0				ovary(1)	1						c.(721-723)CTC>CTG		pre-mRNA processing factor 31 homolog							54.0	54.0	54.0					19																	54627903		2203	4300	6503	SO:0001819	synonymous_variant	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54627903C>G	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.723C>G	19.37:g.54627903C>G						PRPF31_uc010yek.1_Silent_p.L241L	p.L241L	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN			8	1119	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		241			Nop.		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Silent	SNP	ENST00000321030.4	37	c.723C>G	CCDS12879.1																																																																																				0.647	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2				12	101	0	0	0	1	0	12	101		
LILRA1	11024	broad.mit.edu	37	19	55107894	55107894	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55107894C>T	ENST00000251372.3	+	7	1381	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	400	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGCTACGGCTCACTCAGCTCC	0.572																																						uc002qgh.1		NaN																	0				skin(2)|ovary(1)	3						c.(1198-1200)TCA>TTA		leukocyte immunoglobulin-like receptor,							141.0	127.0	131.0					19																	55107894		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107894C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1199C>T	19.37:g.55107894C>T	ENSP00000251372:p.Ser400Leu					LILRA2_uc010yfg.1_Missense_Mutation_p.S398L|LILRA1_uc010yfh.1_Missense_Mutation_p.S400L	p.S400L	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	7	1381	+			400			Ig-like C2-type 4.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.1199C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887812	0.33348	.	.	ENSG00000104974	ENST00000251372	T	0.03745	3.82	1.8	0.626	0.17670	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.337534	0.16793	U	0.199299	T	0.20129	0.0484	H	0.94620	3.56	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.03157	-1.1066	10	0.87932	D	0	.	5.7666	0.18229	0.0:0.6306:0.3694:0.0	.	400	O75019	LIRA1_HUMAN	L	400	ENSP00000251372:S400L	ENSP00000251372:S400L	S	+	2	0	LILRA1	59799706	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.156000	0.16382	0.272000	0.22027	0.205000	0.17691	TCA		0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2		NM_006863		80	136	0	0	0	1	0	80	136		
LILRA1	11024	broad.mit.edu	37	19	55107923	55107923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55107923C>T	ENST00000251372.3	+	7	1410	c.1228C>T	c.(1228-1230)Cac>Tac	p.H410Y	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	410	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTGCTGTCTCACCCCAGTGA	0.612																																						uc002qgh.1		NaN																	0				skin(2)|ovary(1)	3						c.(1228-1230)CAC>TAC		leukocyte immunoglobulin-like receptor,							118.0	108.0	111.0					19																	55107923		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107923C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1228C>T	19.37:g.55107923C>T	ENSP00000251372:p.His410Tyr					LILRA2_uc010yfg.1_Missense_Mutation_p.H408Y|LILRA1_uc010yfh.1_Missense_Mutation_p.H410Y	p.H410Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	7	1410	+			410			Ig-like C2-type 4.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.1228C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.449024	0.00175	.	.	ENSG00000104974	ENST00000251372	T	0.00724	5.78	1.71	-2.42	0.06542	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	4.146950	0.00829	N	0.001640	T	0.01320	0.0043	M	0.83312	2.635	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.53641	-0.8410	10	0.18276	T	0.48	.	0.6412	0.00810	0.2435:0.3424:0.2402:0.174	.	410	O75019	LIRA1_HUMAN	Y	410	ENSP00000251372:H410Y	ENSP00000251372:H410Y	H	+	1	0	LILRA1	59799735	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.797000	0.00763	-0.526000	0.06383	-1.027000	0.02421	CAC		0.612	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2		NM_006863		66	120	0	0	0	1	0	66	120		
NLRP2	55655	broad.mit.edu	37	19	55493683	55493683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55493683C>T	ENST00000543010.1	+	6	760	c.617C>T	c.(616-618)tCa>tTa	p.S206L	NLRP2_ENST00000391721.4_Missense_Mutation_p.S182L|NLRP2_ENST00000537859.1_Missense_Mutation_p.S184L|NLRP2_ENST00000448584.2_Missense_Mutation_p.S206L|NLRP2_ENST00000339757.7_Missense_Mutation_p.S184L|NLRP2_ENST00000427260.2_Missense_Mutation_p.S183L|NLRP2_ENST00000538819.1_Missense_Mutation_p.S182L|NLRP2_ENST00000263437.6_Missense_Mutation_p.S203L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	206					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGCCCTTCTCATACACGGTG	0.542																																						uc002qij.2		NaN																	0				ovary(1)|skin(1)	2						c.(616-618)TCA>TTA		NLR family, pyrin domain containing 2							89.0	93.0	92.0					19																	55493683		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493683C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.617C>T	19.37:g.55493683C>T	ENSP00000445135:p.Ser206Leu					NLRP2_uc010yfp.1_Missense_Mutation_p.S183L|NLRP2_uc010esn.2_Missense_Mutation_p.S182L|NLRP2_uc010eso.2_Missense_Mutation_p.S203L|NLRP2_uc010esp.2_Missense_Mutation_p.S184L	p.S206L	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	703	+			206					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.617C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655631	0.47467	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;0.48	1.62	1.62	0.23740	.	0.963940	0.08403	N	0.951083	T	0.68421	0.2999	N	0.14661	0.345	0.23524	N	0.997492	P;P;P;P;P	0.44776	0.757;0.726;0.757;0.843;0.757	B;B;B;B;B	0.42827	0.152;0.399;0.225;0.399;0.225	T	0.60667	-0.7218	10	0.62326	D	0.03	.	9.2101	0.37313	0.0:1.0:0.0:0.0	.	183;184;203;182;206	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	L	206;182;184;206;184;183;182;203	ENSP00000445135:S206L;ENSP00000375601:S182L;ENSP00000344074:S184L;ENSP00000409370:S206L;ENSP00000440601:S184L;ENSP00000402474:S183L;ENSP00000441133:S182L;ENSP00000263437:S203L	ENSP00000263437:S203L	S	+	2	0	NLRP2	60185495	0.000000	0.05858	0.221000	0.23827	0.027000	0.11550	0.452000	0.21795	1.218000	0.43458	0.491000	0.48974	TCA		0.542	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852		24	94	0	0	0	1	0	24	94		
NLRP2	55655	broad.mit.edu	37	19	55502018	55502018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55502018G>A	ENST00000543010.1	+	10	2829	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K	NLRP2_ENST00000586512.1_3'UTR|NLRP2_ENST00000391721.4_Missense_Mutation_p.E872K|NLRP2_ENST00000537859.1_Missense_Mutation_p.E874K|NLRP2_ENST00000448584.2_Missense_Mutation_p.E896K|NLRP2_ENST00000339757.7_Missense_Mutation_p.E874K|NLRP2_ENST00000427260.2_Missense_Mutation_p.E873K|NLRP2_ENST00000538819.1_Missense_Mutation_p.E872K|NLRP2_ENST00000263437.6_Missense_Mutation_p.E893K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	896					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGGTACCCCGAGTGTAAACT	0.567																																						uc002qij.2		NaN																	0				ovary(1)|skin(1)	2						c.(2686-2688)GAG>AAG		NLR family, pyrin domain containing 2							130.0	130.0	130.0					19																	55502018		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55502018G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2686G>A	19.37:g.55502018G>A	ENSP00000445135:p.Glu896Lys					NLRP2_uc010yfp.1_Missense_Mutation_p.E873K|NLRP2_uc010esn.2_Missense_Mutation_p.E872K|NLRP2_uc010eso.2_Missense_Mutation_p.E893K|NLRP2_uc010esp.2_Missense_Mutation_p.E874K	p.E896K	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	10	2772	+			896					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.2686G>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	9.120	1.008803	0.19199	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	2.31	-1.06	0.10002	.	.	.	.	.	T	0.26629	0.0651	N	0.25286	0.73	0.09310	N	1	P;P;P;P;P	0.47409	0.454;0.895;0.698;0.882;0.812	B;B;B;B;B	0.41466	0.072;0.358;0.149;0.358;0.103	T	0.18618	-1.0331	9	0.16896	T	0.51	.	4.9163	0.13847	0.5063:0.0:0.4937:0.0	.	873;874;893;872;896	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	K	896;872;874;896;874;873;872;893	ENSP00000445135:E896K;ENSP00000375601:E872K;ENSP00000344074:E874K;ENSP00000409370:E896K;ENSP00000440601:E874K;ENSP00000402474:E873K;ENSP00000441133:E872K;ENSP00000263437:E893K	ENSP00000263437:E893K	E	+	1	0	NLRP2	60193830	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-0.392000	0.07314	-0.181000	0.10619	0.561000	0.74099	GAG		0.567	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852		14	64	0	0	0	1	0	14	64		
NLRP11	204801	broad.mit.edu	37	19	56321174	56321174	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:56321174C>T	ENST00000589093.1	-	3	895	c.802G>A	c.(802-804)Gct>Act	p.A268T	NLRP11_ENST00000589824.2_Missense_Mutation_p.A268T|NLRP11_ENST00000592953.1_Missense_Mutation_p.A169T|NLRP11_ENST00000443188.1_Missense_Mutation_p.A268T|NLRP11_ENST00000360133.3_Missense_Mutation_p.A268T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	268	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAGCCTGGAGCCATTTTTCTC	0.458																																						uc010ygf.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(802-804)GCT>ACT		NLR family, pyrin domain containing 11							67.0	68.0	67.0					19																	56321174		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56321174C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.802G>A	19.37:g.56321174C>T	ENSP00000466285:p.Ala268Thr					NLRP11_uc002qlz.2_Missense_Mutation_p.A169T|NLRP11_uc002qmb.2_Missense_Mutation_p.A169T|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.A268T	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1513	-		Colorectal(82;0.0002)	268			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.802G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.248014	0.39697	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.78246	-1.16;-1.16	2.55	-5.1	0.02911	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.72835	0.3510	L	0.36672	1.1	0.09310	N	1	D;D	0.67145	0.996;0.995	P;P	0.62298	0.9;0.885	T	0.62835	-0.6770	9	0.72032	D	0.01	.	0.1803	0.00123	0.2632:0.1693:0.2615:0.306	.	268;268	P59045;P59045-2	NAL11_HUMAN;.	T	268	ENSP00000409898:A268T;ENSP00000353251:A268T	ENSP00000353251:A268T	A	-	1	0	NLRP11	61012986	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.368000	0.07543	-1.579000	0.01646	-0.890000	0.02929	GCT		0.458	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1		NM_145007		11	53	0	0	0	1	0	11	53		
ZNF329	79673	broad.mit.edu	37	19	58639517	58639517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:58639517C>T	ENST00000598312.1	-	4	1587	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	ZNF329_ENST00000358067.4_Missense_Mutation_p.E452K	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TAGGGCTTCTCACCAGTATGA	0.502																																						uc002qrn.2		NaN																	0				skin(1)	1						c.(1354-1356)GAG>AAG		zinc finger protein 329							75.0	70.0	71.0					19																	58639517		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639517C>T	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1354G>A	19.37:g.58639517C>T	ENSP00000470008:p.Glu452Lys					ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.E452K	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1591	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	452					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.1354G>A	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562981	0.86335	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.24350	1.86;1.86	4.31	4.31	0.51392	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000712	T	0.41719	0.1171	L	0.35793	1.09	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.32666	-0.9898	10	0.72032	D	0.01	-18.4259	16.7502	0.85483	0.0:1.0:0.0:0.0	.	452	Q86UD4	ZN329_HUMAN	K	452	ENSP00000350773:E452K;ENSP00000439527:E452K	ENSP00000350773:E452K	E	-	1	0	ZNF329	63331329	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	4.619000	0.61218	2.691000	0.91804	0.655000	0.94253	GAG		0.502	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1		NM_024620		9	65	0	0	0	1	0	9	65		
ZNF132	7691	broad.mit.edu	37	19	58948469	58948469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:58948469C>G	ENST00000254166.3	-	2	577	c.177G>C	c.(175-177)caG>caC	p.Q59H		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		ACAGGTGCCTCTGGGCTGCAT	0.517																																						uc002qst.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(175-177)CAG>CAC		zinc finger protein 132							135.0	98.0	111.0					19																	58948469		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58948469C>G	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.177G>C	19.37:g.58948469C>G	ENSP00000254166:p.Gln59His						p.Q59H	NM_003433	NP_003424	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	2	578	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	59			KRAB.		Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.177G>C	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185666	0.57909	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.09445	2.98	3.35	2.27	0.28462	Krueppel-associated box (4);	.	.	.	.	T	0.40067	0.1102	H	0.94503	3.545	0.28168	N	0.928683	D	0.89917	1.0	D	0.77004	0.989	T	0.27839	-1.0062	9	0.87932	D	0	.	8.3452	0.32268	0.0:0.8787:0.0:0.1213	.	59	P52740	ZN132_HUMAN	H	59;28	ENSP00000254166:Q59H	ENSP00000254166:Q59H	Q	-	3	2	ZNF132	63640281	0.978000	0.34361	0.868000	0.34077	0.968000	0.65278	1.906000	0.39887	0.499000	0.27970	0.514000	0.50259	CAG		0.517	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1		NM_003433		13	60	0	0	0	1	0	13	60		
TPO	7173	broad.mit.edu	37	2	1500420	1500420	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:1500420G>A	ENST00000345913.4	+	13	2360	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K	TPO_ENST00000346956.3_Missense_Mutation_p.E757K|TPO_ENST00000382201.3_Missense_Mutation_p.E700K|TPO_ENST00000337415.3_Missense_Mutation_p.E757K|TPO_ENST00000349624.3_Missense_Mutation_p.E584K|TPO_ENST00000329066.4_Missense_Mutation_p.E757K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.E584K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	757	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGTGCACTGTGAGGAGTCTGG	0.547																																						uc002qww.2		NaN																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2269-2271)GAG>AAG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						159.0	152.0	154.0					2																	1500420		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1500420G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2269G>A	2.37:g.1500420G>A	ENSP00000318820:p.Glu757Lys					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.E700K|TPO_uc002qwr.2_Missense_Mutation_p.E757K|TPO_uc002qwx.2_Missense_Mutation_p.E700K|TPO_uc010yio.1_Missense_Mutation_p.E584K|TPO_uc010yip.1_Missense_Mutation_p.E757K|TPO_uc002qwy.1_Missense_Mutation_p.E97K|TPO_uc002qwz.2_Intron	p.E757K	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	13	2360	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	757			Extracellular (Potential).|Sushi.		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2269G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	8.650	0.897970	0.17686	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;1.86;1.86;-1.01;1.86;1.86;1.86;1.86	4.9	2.77	0.32553	Complement control module (2);Sushi/SCR/CCP (2);	0.402918	0.25377	N	0.031120	T	0.69160	0.3080	L	0.38733	1.17	0.31116	N	0.709409	P;P;P;P	0.44734	0.481;0.842;0.481;0.565	B;P;B;B	0.47645	0.217;0.553;0.217;0.155	T	0.66972	-0.5788	10	0.31617	T	0.26	-9.967	5.7394	0.18085	0.1016:0.0:0.5481:0.3503	.	757;584;700;757	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	K	757;757;757;584;757;700;584;686;231	ENSP00000337263:E757K;ENSP00000318820:E757K;ENSP00000263886:E757K;ENSP00000332044:E584K;ENSP00000329869:E757K;ENSP00000371636:E700K;ENSP00000371633:E584K;ENSP00000405788:E686K;ENSP00000419461:E231K	ENSP00000329869:E757K	E	+	1	0	TPO	1479427	0.471000	0.25862	0.030000	0.17652	0.078000	0.17371	0.920000	0.28705	1.199000	0.43173	0.591000	0.81541	GAG		0.547	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547		45	83	0	0	0	1	0	45	83		
RNASEH1	246243	broad.mit.edu	37	2	3596688	3596688	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:3596688C>A	ENST00000315212.3	-	5	879	c.524G>T	c.(523-525)aGa>aTa	p.R175I	RP13-512J5.1_ENST00000438485.1_5'Flank	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	175	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CCCAGGAAGTCTAATGCCTAC	0.328																																						uc002qxt.2		NaN																	0				ovary(1)	1						c.(523-525)AGA>ATA		ribonuclease H1							174.0	187.0	183.0					2																	3596688		2203	4300	6503	SO:0001583	missense	246243				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	g.chr2:3596688C>A	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.524G>T	2.37:g.3596688C>A	ENSP00000313350:p.Arg175Ile					RNASEH1_uc002qxs.2_Missense_Mutation_p.R58I	p.R175I	NM_002936	NP_002927	O60930	RNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	5	614	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		175			RNase H.		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000315212.3	37	c.524G>T	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464781	0.63513	.	.	ENSG00000171865	ENST00000315212	T	0.51574	0.7	4.59	4.59	0.56863	Ribonuclease H domain (2);Ribonuclease H-like (1);	0.106954	0.64402	D	0.000009	T	0.61825	0.2378	M	0.64997	1.995	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.62900	-0.6756	10	0.59425	D	0.04	-5.0967	8.7839	0.34809	0.0:0.8988:0.0:0.1012	.	175	O60930	RNH1_HUMAN	I	175	ENSP00000313350:R175I	ENSP00000313350:R175I	R	-	2	0	RNASEH1	3574563	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	3.128000	0.50492	2.533000	0.85409	0.591000	0.81541	AGA		0.328	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2				28	218	1	0	7.38237e-10	1	8.16662e-10	28	218		
RSAD2	91543	broad.mit.edu	37	2	7018251	7018251	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:7018251G>A	ENST00000382040.3	+	1	456	c.320G>A	c.(319-321)aGa>aAa	p.R107K	RSAD2_ENST00000541728.1_5'Flank	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAGCAAAGAGAGGATTGCTT	0.507																																						uc002qyp.1		NaN																	0					0						c.(319-321)AGA>AAA		radical S-adenosyl methionine domain containing							76.0	70.0	72.0					2																	7018251		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7018251G>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.320G>A	2.37:g.7018251G>A	ENSP00000371471:p.Arg107Lys						p.R107K	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	1	456	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		107						Missense_Mutation	SNP	ENST00000382040.3	37	c.320G>A	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570948	0.28003	.	.	ENSG00000134321	ENST00000382040	T	0.79845	-1.31	5.51	3.72	0.42706	Elongator protein 3/MiaB/NifB (1);Radical SAM (1);	0.239455	0.42548	N	0.000682	T	0.67249	0.2873	N	0.16567	0.415	0.80722	D	1	B	0.17465	0.022	B	0.25140	0.058	T	0.58864	-0.7561	10	0.29301	T	0.29	-18.3912	12.1481	0.54034	0.139:0.0:0.861:0.0	.	107	Q8WXG1	RSAD2_HUMAN	K	107	ENSP00000371471:R107K	ENSP00000371471:R107K	R	+	2	0	RSAD2	6935702	1.000000	0.71417	0.936000	0.37596	0.182000	0.23217	1.283000	0.33237	0.824000	0.34613	0.557000	0.71058	AGA		0.507	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2		NM_080657		17	30	0	0	0	1	0	17	30		
IAH1	285148	broad.mit.edu	37	2	9628347	9628347	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:9628347C>T	ENST00000497473.1	+	6	673	c.636C>T	c.(634-636)ctC>ctT	p.L212L	IAH1_ENST00000470914.1_Silent_p.L99L|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000482918.1_Silent_p.L99L|IAH1_ENST00000545602.1_Silent_p.L99L	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	212					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCGCATCTCTGGCCTTTGA	0.428																																						uc002qzr.2		NaN																	0					0						c.(634-636)CTC>CTT		isoamyl acetate-hydrolyzing esterase 1 homolog							152.0	137.0	142.0					2																	9628347		1865	4102	5967	SO:0001819	synonymous_variant	285148				lipid catabolic process		hydrolase activity, acting on ester bonds	g.chr2:9628347C>T	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.636C>T	2.37:g.9628347C>T						IAH1_uc002qzs.2_Silent_p.L99L|IAH1_uc002qzt.2_Silent_p.L99L|IAH1_uc010yiz.1_RNA	p.L212L	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN			6	662	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		212					B4DMV3	Silent	SNP	ENST00000497473.1	37	c.636C>T	CCDS42651.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270145	0.23221	.	.	ENSG00000134330	ENST00000481367	.	.	.	6.17	-9.22	0.00675	.	.	.	.	.	T	0.45696	0.1355	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52975	-0.8503	4	.	.	.	-24.8074	7.2178	0.25969	0.0864:0.3873:0.4097:0.1166	.	.	.	.	F	192	.	.	S	+	2	0	IAH1	9545798	0.028000	0.19301	0.266000	0.24541	0.996000	0.88848	-1.302000	0.02746	-1.744000	0.01338	0.655000	0.94253	TCT		0.428	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1		NM_001039613		12	79	0	0	0	1	0	12	79		
ODC1	4953	broad.mit.edu	37	2	10582001	10582001	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:10582001T>C	ENST00000234111.4	-	10	1478	c.968A>G	c.(967-969)tAt>tGt	p.Y323C	ODC1_ENST00000405333.1_Missense_Mutation_p.Y323C|ODC1_ENST00000446285.1_5'Flank	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	323					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	AAATGATCCATAGACGCCATC	0.383																																						uc010exg.1		NaN																	0				ovary(1)	1						c.(967-969)TAT>TGT		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						176.0	171.0	173.0					2																	10582001		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10582001T>C		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.968A>G	2.37:g.10582001T>C	ENSP00000234111:p.Tyr323Cys					ODC1_uc002ran.1_Missense_Mutation_p.Y9C|ODC1_uc002rao.1_Missense_Mutation_p.Y323C|ODC1_uc010yjd.1_Missense_Mutation_p.Y193C	p.Y323C	NM_002539	NP_002530	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	10	1402	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		323					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.968A>G	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297224	0.81025	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.56275	0.47;0.47	5.65	5.65	0.86999	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	H	0.94306	3.52	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.86073	0.1539	10	0.87932	D	0	.	15.8892	0.79279	0.0:0.0:0.0:1.0	.	323	P11926	DCOR_HUMAN	C	323;323;194	ENSP00000234111:Y323C;ENSP00000385333:Y323C	ENSP00000234111:Y323C	Y	-	2	0	ODC1	10499452	1.000000	0.71417	0.218000	0.23776	0.925000	0.55904	7.889000	0.87307	2.149000	0.67028	0.533000	0.62120	TAT		0.383	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2				35	168	0	0	0	1	0	35	168		
PQLC3	130814	broad.mit.edu	37	2	11295764	11295764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:11295764C>T	ENST00000295083.3	+	1	267	c.92C>T	c.(91-93)gCg>gTg	p.A31V	PQLC3_ENST00000441908.2_Missense_Mutation_p.A31V|PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000402361.1_Missense_Mutation_p.A31V	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	31						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GTGCTAGCGGCGCGCAGCGCG	0.721																																						uc002rbc.2		NaN																	0					0						c.(91-93)GCG>GTG		PQ loop repeat containing 3 precursor							5.0	6.0	6.0					2																	11295764		1795	3680	5475	SO:0001583	missense	130814					integral to membrane		g.chr2:11295764C>T	BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.92C>T	2.37:g.11295764C>T	ENSP00000295083:p.Ala31Val					PQLC3_uc010yjk.1_Missense_Mutation_p.A31V	p.A31V	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	225	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		31					B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	c.92C>T	CCDS1679.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619458	0.66787	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908;ENST00000402361	D;D;D;D	0.98207	-4.79;-4.79;-4.79;-4.79	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.97888	0.9306	M	0.73319	2.225	0.47183	D	0.999349	D;D	0.55800	0.959;0.973	P;P	0.52454	0.59;0.699	D	0.97106	0.9801	10	0.30078	T	0.28	-19.7002	14.5173	0.67827	0.0:1.0:0.0:0.0	.	31;31	B4DWA4;Q8N755	.;PQLC3_HUMAN	V	54;31;31;31	ENSP00000410430:A54V;ENSP00000295083:A31V;ENSP00000406148:A31V;ENSP00000384129:A31V	ENSP00000295083:A31V	A	+	2	0	PQLC3	11213215	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	4.846000	0.62860	2.411000	0.81874	0.462000	0.41574	GCG		0.721	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4		NM_152391		3	3	0	0	0	1	0	3	3		
MATN3	4148	broad.mit.edu	37	2	20205794	20205794	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:20205794C>A	ENST00000407540.3	-	2	563	c.501G>T	c.(499-501)caG>caT	p.Q167H	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.Q167H	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	167	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTGCTGTCTGGATGGCTA	0.567																																						uc002rdl.2		NaN																	0					0						c.(499-501)CAG>CAT		matrilin 3 precursor							64.0	67.0	66.0					2																	20205794		2105	4225	6330	SO:0001583	missense	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20205794C>A	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.501G>T	2.37:g.20205794C>A	ENSP00000383894:p.Gln167His					MATN3_uc010exu.1_Missense_Mutation_p.Q167H	p.Q167H	NM_002381	NP_002372	O15232	MATN3_HUMAN			2	564	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		167			VWFA.		B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	c.501G>T	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437529	0.62955	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	D;D	0.84370	-1.84;-1.84	5.84	3.86	0.44501	von Willebrand factor, type A (3);	0.108387	0.64402	D	0.000006	D	0.89438	0.6715	M	0.70108	2.13	0.37660	D	0.922729	P;D	0.76494	0.885;0.999	P;D	0.71184	0.665;0.972	D	0.90128	0.4204	10	0.72032	D	0.01	-29.9374	6.8446	0.23980	0.0:0.6769:0.1431:0.18	.	167;167	B2CPU0;O15232	.;MATN3_HUMAN	H	167	ENSP00000383894:Q167H;ENSP00000398753:Q167H	ENSP00000383894:Q167H	Q	-	3	2	MATN3	20069275	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.846000	0.27682	1.353000	0.45828	0.655000	0.94253	CAG		0.567	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1		NM_002381		14	52	1	0	2.32078e-09	1	2.5472e-09	14	52		
RHOB	388	broad.mit.edu	37	2	20647712	20647712	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:20647712G>C	ENST00000272233.4	+	1	878	c.486G>C	c.(484-486)aaG>aaC	p.K162N		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	162					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	GCTCTGCCAAGACCAAGGAAG	0.667																																						uc002rdv.2		NaN																	0				ovary(1)|lung(1)	2						c.(484-486)AAG>AAC		ras homolog gene family, member B precursor							67.0	69.0	69.0					2																	20647712		2199	4292	6491	SO:0001583	missense	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647712G>C		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.486G>C	2.37:g.20647712G>C	ENSP00000272233:p.Lys162Asn						p.K162N	NM_004040	NP_004031	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	878	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	162					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	c.486G>C	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486702	0.44249	.	.	ENSG00000143878	ENST00000272233	T	0.74315	-0.83	5.21	5.21	0.72293	.	0.000000	0.85682	U	0.000000	D	0.88005	0.6321	H	0.97852	4.09	0.80722	D	1	P	0.39404	0.672	P	0.45071	0.468	D	0.91393	0.5137	10	0.62326	D	0.03	-17.4279	19.1391	0.93441	0.0:0.0:1.0:0.0	.	162	P62745	RHOB_HUMAN	N	162	ENSP00000272233:K162N	ENSP00000272233:K162N	K	+	3	2	RHOB	20511193	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	4.136000	0.58004	2.619000	0.88677	0.655000	0.94253	AAG		0.667	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1		NM_004040		19	126	0	0	0	1	0	19	126		
OTOF	9381	broad.mit.edu	37	2	26706399	26706399	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:26706399C>G	ENST00000272371.2	-	13	1449	c.1323G>C	c.(1321-1323)aaG>aaC	p.K441N	OTOF_ENST00000403946.3_Missense_Mutation_p.K441N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	441	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAAGCCTTCTTTACATTGG	0.567																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1321-1323)AAG>AAC		otoferlin isoform a							91.0	81.0	84.0					2																	26706399		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26706399C>G	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1323G>C	2.37:g.26706399C>G	ENSP00000272371:p.Lys441Asn						p.K441N	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			13	1450	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		441			Cytoplasmic (Potential).|C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1323G>C	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266340	0.80358	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	D;D	0.82255	-1.59;-1.59	5.04	3.95	0.45737	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	M	0.86864	2.845	0.58432	D	0.999997	P	0.49783	0.928	P	0.51918	0.684	D	0.90774	0.4674	10	0.66056	D	0.02	-31.9131	14.0507	0.64734	0.0:0.9115:0.0:0.0885	.	441	Q9HC10	OTOF_HUMAN	N	441	ENSP00000272371:K441N;ENSP00000385255:K441N	ENSP00000272371:K441N	K	-	3	2	OTOF	26559903	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.664000	0.46783	2.340000	0.79590	0.643000	0.83706	AAG		0.567	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				17	62	0	0	0	1	0	17	62		
C2orf70	339778	broad.mit.edu	37	2	26800472	26800472	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:26800472A>T	ENST00000329615.3	+	3	468	c.437A>T	c.(436-438)gAa>gTa	p.E146V	C2orf70_ENST00000409392.1_Silent_p.G133G	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	146						nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						AGGGAGCCGGAACGGTACCCC	0.597											OREG0014506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010eyn.2		NaN																	0				skin(1)	1						c.(436-438)GAA>GTA		hypothetical protein LOC339778							74.0	79.0	77.0					2																	26800472		2071	4206	6277	SO:0001583	missense	339778							g.chr2:26800472A>T		CCDS42661.1	2p23.3	2011-05-09			ENSG00000173557	ENSG00000173557			27938	protein-coding gene	gene with protein product	"""hypothetical protein LOC339778"""						Standard	NM_001105519		Approved	LOC339778	uc010eyn.3	A6NJV1	OTTHUMG00000151994	ENST00000329615.3:c.437A>T	2.37:g.26800472A>T	ENSP00000332875:p.Glu146Val		OREG0014506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	789		p.E146V	NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN			3	437	+			146						Missense_Mutation	SNP	ENST00000329615.3	37	c.437A>T	CCDS42661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.295|9.295	1.051635|1.051635	0.19827|0.19827	.|.	.|.	ENSG00000173557|ENSG00000173557	ENST00000329615|ENST00000453368	T|.	0.35605|.	1.3|.	5.27|5.27	4.09|4.09	0.47781|0.47781	.|.	0.554792|.	0.17327|.	N|.	0.178246|.	T|T	0.64483|0.64483	0.2602|0.2602	M|M	0.67953|0.67953	2.075|2.075	0.46396|0.46396	D|D	0.999028|0.999028	P|.	0.44578|.	0.838|.	B|.	0.38803|.	0.282|.	T|T	0.61811|0.61811	-0.6986|-0.6986	10|5	0.72032|.	D|.	0.01|.	-2.1744|-2.1744	10.4428|10.4428	0.44474|0.44474	0.8357:0.1643:0.0:0.0|0.8357:0.1643:0.0:0.0	.|.	146|.	A6NJV1|.	CB070_HUMAN|.	V|Y	146|47	ENSP00000332875:E146V|.	ENSP00000332875:E146V|.	E|N	+|+	2|1	0|0	C2orf70|C2orf70	26653976|26653976	0.643000|0.643000	0.27269|0.27269	0.012000|0.012000	0.15200|0.15200	0.011000|0.011000	0.07611|0.07611	1.796000|1.796000	0.38794|0.38794	0.812000|0.812000	0.34326|0.34326	0.383000|0.383000	0.25322|0.25322	GAA|AAC		0.597	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1		NM_001105519		8	52	0	0	0	1	0	8	52		
EIF2B4	8890	broad.mit.edu	37	2	27589789	27589789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27589789G>T	ENST00000347454.4	-	11	1199	c.1028C>A	c.(1027-1029)tCa>tAa	p.S343*	EIF2B4_ENST00000451130.2_Nonsense_Mutation_p.S363*|EIF2B4_ENST00000445933.2_Nonsense_Mutation_p.S342*|EIF2B4_ENST00000493344.2_Nonsense_Mutation_p.S364*|AC074117.10_ENST00000412749.1_RNA	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	343					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAATTCGTGATACCAGAGA	0.502																																						uc002rkb.2		NaN																	0					0						c.(1027-1029)TCA>TAA		eukaryotic translation initiation factor 2B,							166.0	179.0	175.0					2																	27589789		2203	4300	6503	SO:0001587	stop_gained	8890				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27589789G>T	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.1028C>A	2.37:g.27589789G>T	ENSP00000233552:p.Ser343*					EIF2B4_uc002rjz.2_Nonsense_Mutation_p.S363*|EIF2B4_uc002rka.2_Nonsense_Mutation_p.S328*|EIF2B4_uc002rkc.2_Nonsense_Mutation_p.S342*|EIF2B4_uc002rkd.2_Nonsense_Mutation_p.S137*|EIF2B4_uc002rke.2_Nonsense_Mutation_p.S312*|EIF2B4_uc002rkf.1_3'UTR	p.S343*	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN			11	1171	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		343					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Nonsense_Mutation	SNP	ENST00000347454.4	37	c.1028C>A	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646736	0.87958	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	.	.	.	5.87	5.87	0.94306	.	0.112881	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-9.1104	12.6751	0.56889	0.0:0.0:0.8353:0.1646	.	.	.	.	X	343;340;342;363;364	.	ENSP00000233552:S343X	S	-	2	0	EIF2B4	27443293	1.000000	0.71417	0.942000	0.38095	0.972000	0.66771	4.520000	0.60524	2.781000	0.95711	0.655000	0.94253	TCA		0.502	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1				41	273	1	0	2.01872e-29	1	2.3357e-29	41	273		
EIF2B4	8890	broad.mit.edu	37	2	27589796	27589796	+	Missense_Mutation	SNP	G	G	T	rs145468921	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27589796G>T	ENST00000347454.4	-	11	1192	c.1021C>A	c.(1021-1023)Ctg>Atg	p.L341M	EIF2B4_ENST00000451130.2_Missense_Mutation_p.L361M|EIF2B4_ENST00000445933.2_Missense_Mutation_p.L340M|EIF2B4_ENST00000493344.2_Missense_Mutation_p.L362M|AC074117.10_ENST00000412749.1_RNA	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	341					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGATACCAGAGATGAGCTA	0.502																																						uc002rkb.2		NaN																	0					0						c.(1021-1023)CTG>ATG		eukaryotic translation initiation factor 2B,							161.0	174.0	170.0					2																	27589796		2203	4300	6503	SO:0001583	missense	8890				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27589796G>T	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.1021C>A	2.37:g.27589796G>T	ENSP00000233552:p.Leu341Met					EIF2B4_uc002rjz.2_Missense_Mutation_p.L361M|EIF2B4_uc002rka.2_Missense_Mutation_p.L326M|EIF2B4_uc002rkc.2_Missense_Mutation_p.L340M|EIF2B4_uc002rkd.2_Missense_Mutation_p.L135M|EIF2B4_uc002rke.2_Missense_Mutation_p.L310M|EIF2B4_uc002rkf.1_3'UTR	p.L341M	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN			11	1164	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		341					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	c.1021C>A	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321531	0.60634	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.87	2.08	0.27032	.	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	M	0.89715	3.055	0.52099	D	0.999945	D;D;P;P	0.89917	1.0;1.0;0.941;0.951	D;D;P;P	0.87578	0.99;0.998;0.893;0.721	D	0.95840	0.8865	10	0.72032	D	0.01	-13.4196	9.6418	0.39844	0.2447:0.0:0.7553:0.0	.	338;340;341;361	F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;EI2BD_HUMAN;.	M	341;338;340;361;362	ENSP00000233552:L341M;ENSP00000394397:L340M;ENSP00000394869:L361M;ENSP00000429323:L362M	ENSP00000233552:L341M	L	-	1	2	EIF2B4	27443300	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	2.723000	0.47277	0.105000	0.17753	0.655000	0.94253	CTG		0.502	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1				37	271	1	0	6.61955e-31	1	7.67307e-31	37	271		
NRBP1	29959	broad.mit.edu	37	2	27656634	27656634	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27656634C>G	ENST00000233557.3	+	4	1137	c.305C>G	c.(304-306)tCt>tGt	p.S102C	NRBP1_ENST00000379863.3_Missense_Mutation_p.S102C|NRBP1_ENST00000379852.3_Missense_Mutation_p.S102C			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTACAGTTCTCTGAACGCAAG	0.478																																						uc002rko.2		NaN																	0				ovary(2)|lung(1)	3						c.(304-306)TCT>TGT		nuclear receptor binding protein							117.0	114.0	115.0					2																	27656634		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27656634C>G	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.305C>G	2.37:g.27656634C>G	ENSP00000233557:p.Ser102Cys					NRBP1_uc002rkq.2_Missense_Mutation_p.S102C|NRBP1_uc002rkp.2_Missense_Mutation_p.S102C|NRBP1_uc002rkr.2_5'Flank	p.S102C	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN			4	1137	+	Acute lymphoblastic leukemia(172;0.155)		102			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.305C>G	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771136	0.90108	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863;ENST00000419281	T;T;T	0.67171	-0.25;-0.25;-0.25	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	D	0.86378	0.1727	10	0.72032	D	0.01	-9.622	17.4069	0.87476	0.0:1.0:0.0:0.0	.	102;102	F8W6G1;Q9UHY1	.;NRBP_HUMAN	C	102;82;102;102;102	ENSP00000233557:S102C;ENSP00000369181:S102C;ENSP00000369192:S102C	ENSP00000233557:S102C	S	+	2	0	NRBP1	27510138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.397000	0.79903	2.458000	0.83093	0.561000	0.74099	TCT		0.478	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1		NM_013392		35	57	0	0	0	1	0	35	57		
GPN1	11321	broad.mit.edu	37	2	27864120	27864120	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27864120G>A	ENST00000610189.1	+	11	821	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000264718.3_Missense_Mutation_p.E286K|GPN1_ENST00000515877.1_Missense_Mutation_p.E193K|GPN1_ENST00000503738.1_Missense_Mutation_p.E177K|GPN1_ENST00000407583.3_Missense_Mutation_p.E260K|GPN1_ENST00000424214.1_Missense_Mutation_p.E193K|SNORA36_ENST00000384004.1_RNA|GPN1_ENST00000458167.2_Missense_Mutation_p.E177K	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						GTATCGTCCTGAATATGAACG	0.373																																						uc010ymc.1		NaN																	0					0						c.(856-858)GAA>AAA		GPN-loop GTPase 1 isoform a							139.0	137.0	138.0					2																	27864120		2203	4300	6503	SO:0001583	missense	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27864120G>A	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.814G>A	2.37:g.27864120G>A	ENSP00000476446:p.Glu272Lys					GPN1_uc010ezf.2_Missense_Mutation_p.E260K|GPN1_uc010yma.1_Missense_Mutation_p.E193K|GPN1_uc010ymb.1_Missense_Mutation_p.E177K|GPN1_uc010ymd.1_Missense_Mutation_p.E167K|GPN1_uc010yme.1_Intron|GPN1_uc010ezg.1_Missense_Mutation_p.E167K	p.E286K	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN			11	877	+			272						Missense_Mutation	SNP	ENST00000610189.1	37	c.856G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.491870	0.96339	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T	0.48836	0.8;0.82	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	L	0.55103	1.725	0.58432	D	0.999992	D;D;D	0.69078	0.997;0.988;0.996	D;P;P	0.73380	0.98;0.815;0.815	T	0.61647	-0.7020	10	0.46703	T	0.11	-24.8446	16.8572	0.86009	0.0:0.0:1.0:0.0	.	286;177;260	B4DQM4;B4DXU4;B5MBZ5	.;.;.	K	193;177;177;193;260;286	ENSP00000384255:E260K;ENSP00000264718:E286K	ENSP00000264718:E286K	E	+	1	0	GPN1	27717624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.480000	0.81109	2.779000	0.95612	0.655000	0.94253	GAA		0.373	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1		NM_007266		29	61	0	0	0	1	0	29	61		
SLC4A1AP	22950	broad.mit.edu	37	2	27908000	27908000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27908000G>T	ENST00000326019.6	+	10	2254	c.1972G>T	c.(1972-1974)Gag>Tag	p.E658*		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	658	Glu-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					agaggaagaagagaaagaaaa	0.478																																						uc002rlk.3		NaN																	0					0						c.(1972-1974)GAG>TAG		solute carrier family 4 (anion exchanger),							55.0	56.0	55.0					2																	27908000		2203	4297	6500	SO:0001587	stop_gained	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27908000G>T		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1972G>T	2.37:g.27908000G>T	ENSP00000323837:p.Glu658*						p.E658*	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN			10	2254	+	Acute lymphoblastic leukemia(172;0.155)		658			Glu-rich.		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Nonsense_Mutation	SNP	ENST00000326019.6	37	c.1972G>T	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	39	7.844038	0.98522	.	.	ENSG00000163798	ENST00000326019	.	.	.	5.38	4.45	0.53987	.	0.559960	0.20082	N	0.099622	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-8.4328	16.7172	0.85399	0.0:0.129:0.871:0.0	.	.	.	.	X	658	.	ENSP00000323837:E658X	E	+	1	0	SLC4A1AP	27761504	1.000000	0.71417	0.199000	0.23439	0.430000	0.31655	3.761000	0.55242	2.669000	0.90835	0.563000	0.77884	GAG		0.478	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1		NM_018158		30	88	1	0	9.80776e-20	1	1.12446e-19	30	88		
SPDYA	245711	broad.mit.edu	37	2	29052060	29052060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:29052060G>A	ENST00000334056.5	+	6	616	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	SPDYA_ENST00000379579.4_Missense_Mutation_p.E143K|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AACCAAGTACGAAATTTTTCC	0.373																																						uc002rmj.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(427-429)GAA>AAA		speedy homolog A isoform 1							83.0	86.0	85.0					2																	29052060		2203	4300	6503	SO:0001583	missense	245711				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding	g.chr2:29052060G>A	AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"""Speedy homologs"""	30613	protein-coding gene	gene with protein product		614029	"""speedy homolog 1 (Drosophila)"", ""speedy homolog A (Xenopus laevis)"""	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.427G>A	2.37:g.29052060G>A	ENSP00000335628:p.Glu143Lys					SPDYA_uc002rmi.2_Missense_Mutation_p.E143K|SPDYA_uc002rmk.2_Missense_Mutation_p.E143K|SPDYA_uc002rml.2_Missense_Mutation_p.E143K	p.E143K	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN			6	633	+	Acute lymphoblastic leukemia(172;0.155)		143			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000334056.5	37	c.427G>A	CCDS1767.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087241	0.76642	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.17	5.17	0.71159	.	0.000000	0.64402	U	0.000001	T	0.76842	0.4044	M	0.62016	1.91	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.65443	0.935;0.858	T	0.78440	-0.2203	9	0.62326	D	0.03	-2.0801	19.0198	0.92908	0.0:0.0:1.0:0.0	.	143;143	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	K	143	.	ENSP00000335628:E143K	E	+	1	0	SPDYA	28905564	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.973000	0.93428	2.562000	0.86427	0.563000	0.77884	GAA		0.373	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157171.1		NM_182756		11	65	0	0	0	1	0	11	65		
BIRC6	57448	broad.mit.edu	37	2	32617216	32617216	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:32617216C>G	ENST00000421745.2	+	5	1083	c.949C>G	c.(949-951)Cag>Gag	p.Q317E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	317					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTTTATCATCAGGTAAAAAA	0.368																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(949-951)CAG>GAG		baculoviral IAP repeat-containing 6							38.0	36.0	37.0					2																	32617216		2202	4296	6498	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32617216C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.949C>G	2.37:g.32617216C>G	ENSP00000393596:p.Gln317Glu						p.Q317E	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			5	1083	+	Acute lymphoblastic leukemia(172;0.155)		317			BIR.		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.949C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269942	0.80469	.	.	ENSG00000115760	ENST00000421745	T	0.03801	3.8	5.79	5.79	0.91817	Baculoviral inhibition of apoptosis protein repeat (4);	0.149872	0.48767	D	0.000162	T	0.14787	0.0357	L	0.37897	1.145	0.80722	D	1	D	0.53885	0.963	D	0.71414	0.973	T	0.08513	-1.0718	10	0.25106	T	0.35	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	317	Q9NR09	BIRC6_HUMAN	E	317	ENSP00000393596:Q317E	ENSP00000393596:Q317E	Q	+	1	0	BIRC6	32470720	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.689000	0.84165	2.718000	0.92993	0.655000	0.94253	CAG		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		3	12	0	0	0	1	0	3	12		
VIT	5212	broad.mit.edu	37	2	37035867	37035867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37035867C>T	ENST00000389975.3	+	14	1899	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	VIT_ENST00000404084.1_Missense_Mutation_p.R485C|VIT_ENST00000379242.3_Missense_Mutation_p.R548C|VIT_ENST00000401530.1_Missense_Mutation_p.R512C|VIT_ENST00000379241.3_Missense_Mutation_p.R511C|VIT_ENST00000497382.1_Missense_Mutation_p.R202C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	533	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.R548S(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CACGGACACGCGCATCGGGGC	0.587																																						uc002rpl.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1642-1644)CGC>TGC		vitrin							81.0	78.0	79.0					2																	37035867		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035867C>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1597C>T	2.37:g.37035867C>T	ENSP00000374625:p.Arg533Cys					VIT_uc002rpm.2_Missense_Mutation_p.R526C|VIT_uc010ezv.2_Missense_Mutation_p.R504C|VIT_uc010ezw.2_Missense_Mutation_p.R505C	p.R548C	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			15	1863	+		all_hematologic(82;0.248)	533			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1642C>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.897948	0.52227	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.27	4.39	0.52855	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	H	0.96916	3.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.94779	0.7952	10	0.87932	D	0	-15.256	8.8491	0.35188	0.1481:0.7767:0.0:0.0752	.	512;511;533;548	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	C	548;533;202;485;511;512	ENSP00000368544:R548C;ENSP00000374625:R533C;ENSP00000417874:R202C;ENSP00000384154:R485C;ENSP00000368543:R511C;ENSP00000385658:R512C	ENSP00000368543:R511C	R	+	1	0	VIT	36889371	0.998000	0.40836	0.060000	0.19600	0.449000	0.32228	3.857000	0.55972	1.225000	0.43566	0.557000	0.71058	CGC		0.587	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding					14	91	0	0	0	1	0	14	91		
VIT	5212	broad.mit.edu	37	2	37041503	37041503	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37041503G>A	ENST00000389975.3	+	15	2338	c.2036G>A	c.(2035-2037)tGa>tAa	p.*679*	VIT_ENST00000404084.1_Silent_p.*631*|VIT_ENST00000379242.3_Silent_p.*694*|VIT_ENST00000401530.1_Silent_p.*658*|VIT_ENST00000379241.3_Silent_p.*657*|VIT_ENST00000497382.1_Silent_p.*348*	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	0					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCTCGGAACTGAATTCAGAGC	0.517																																						uc002rpl.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(2080-2082)TGA>TAA		vitrin							77.0	69.0	72.0					2																	37041503		2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:37041503G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.2036G>A	2.37:g.37041503G>A						VIT_uc002rpm.2_Silent_p.*672*|VIT_uc010ezv.2_Silent_p.*650*|VIT_uc010ezw.2_Silent_p.*651*	p.*694*	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			16	2302	+		all_hematologic(82;0.248)	694					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.2081G>A	CCDS54347.1																																																																																				0.517	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding					28	37	0	0	0	1	0	28	37		
SULT6B1	391365	broad.mit.edu	37	2	37402322	37402322	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37402322G>C	ENST00000535679.1	-	5	576	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.L155V|SULT6B1_ENST00000407963.1_Missense_Mutation_p.L155V			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	193						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TCGCCATCAAGATGTTTGTTC	0.313																																						uc002rpu.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(463-465)CTT>GTT		sulfotransferase family, cytosolic, 6B, member							61.0	59.0	60.0					2																	37402322		2202	4286	6488	SO:0001583	missense	391365					cytoplasm	sulfotransferase activity	g.chr2:37402322G>C	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.577C>G	2.37:g.37402322G>C	ENSP00000444081:p.Leu193Val					SULT6B1_uc010yni.1_Intron	p.L155V	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN			5	484	-		all_hematologic(82;0.248)	193					B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37	c.463C>G		.	.	.	.	.	.	.	.	.	.	G	10.67	1.414209	0.25465	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	D;D;D	0.82081	-1.57;-1.57;-1.57	4.68	2.72	0.32119	Sulfotransferase domain (1);	0.333863	0.30649	N	0.009180	T	0.68979	0.3060	L	0.27053	0.805	0.23724	N	0.997013	B	0.14805	0.011	B	0.20384	0.029	T	0.47262	-0.9131	10	0.06365	T	0.9	.	11.9131	0.52751	0.0:0.0:0.3325:0.6675	.	193	Q6IMI4	ST6B1_HUMAN	V	193;155;155	ENSP00000444081:L193V;ENSP00000260637:L155V;ENSP00000384950:L155V	ENSP00000260637:L155V	L	-	1	0	SULT6B1	37255826	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	2.736000	0.47385	0.460000	0.27045	0.591000	0.81541	CTT		0.313	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001032377		8	48	0	0	0	1	0	8	48		
SULT6B1	391365	broad.mit.edu	37	2	37410658	37410658	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37410658C>G	ENST00000535679.1	-	3	312		c.e3-1		SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Splice_Site|SULT6B1_ENST00000407963.1_Splice_Site			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1							cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CTTTCATTCTCTTAAAAATAT	0.408																																						uc002rpu.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.e3-1		sulfotransferase family, cytosolic, 6B, member							105.0	102.0	103.0					2																	37410658		2203	4300	6503	SO:0001630	splice_region_variant	391365					cytoplasm	sulfotransferase activity	g.chr2:37410658C>G	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.313-1G>C	2.37:g.37410658C>G						SULT6B1_uc010yni.1_Splice_Site	p.R67_splice	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN			3	220	-		all_hematologic(82;0.248)						B2RTS7	Splice_Site	SNP	ENST00000535679.1	37	c.199_splice		.	.	.	.	.	.	.	.	.	.	C	17.38	3.376266	0.61735	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6391	0.85068	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT6B1	37264162	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.502000	0.53332	2.441000	0.82636	0.585000	0.79938	.		0.408	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001032377	Intron	19	47	0	0	0	1	0	19	47		
PRKD3	23683	broad.mit.edu	37	2	37516589	37516589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37516589C>G	ENST00000379066.1	-	5	1389	c.627G>C	c.(625-627)aaG>aaC	p.K209N	PRKD3_ENST00000234179.2_Missense_Mutation_p.K209N			O94806	KPCD3_HUMAN	protein kinase D3	209					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ACAGACGTCTCTTTCTTACTC	0.403																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(625-627)AAG>AAC		protein kinase D3							106.0	101.0	103.0					2																	37516589		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37516589C>G	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.627G>C	2.37:g.37516589C>G	ENSP00000368356:p.Lys209Asn					PRKD3_uc002rqf.1_Missense_Mutation_p.K209N	p.K209N	NM_005813	NP_005804	O94806	KPCD3_HUMAN			4	1182	-		all_hematologic(82;0.21)	209					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.627G>C	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545214	0.65198	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.86627	-0.32;-0.32;-2.15	5.17	2.26	0.28386	.	0.000000	0.85682	D	0.000000	D	0.86331	0.5907	M	0.65498	2.005	0.52501	D	0.999955	P;B	0.36660	0.564;0.389	B;B	0.42555	0.391;0.317	D	0.84221	0.0461	10	0.62326	D	0.03	-16.9673	9.7691	0.40578	0.0:0.6966:0.0:0.3034	.	209;209	O94806-2;O94806	.;KPCD3_HUMAN	N	209;209;105	ENSP00000368356:K209N;ENSP00000234179:K209N;ENSP00000401839:K105N	ENSP00000234179:K209N	K	-	3	2	PRKD3	37370093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.323000	0.33701	0.505000	0.28104	0.655000	0.94253	AAG		0.403	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3		NM_005813		32	70	0	0	0	1	0	32	70		
CYP1B1	1545	broad.mit.edu	37	2	38302448	38302448	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:38302448C>T	ENST00000260630.3	-	2	485	c.84G>A	c.(82-84)tcG>tcA	p.S28S	CYP1B1_ENST00000494864.1_Intron|CYP1B1-AS1_ENST00000589303.1_RNA|CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000407341.1_Silent_p.S28S	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	28			S -> W (in POAG). {ECO:0000269|PubMed:16862072}.		angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	TGGCCAGCACCGACAGGAGTA	0.682																																						uc002rqo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(82-84)TCG>TCA		cytochrome P450, family 1, subfamily B,	Estrone(DB00655)						37.0	34.0	35.0					2																	38302448		2201	4300	6501	SO:0001819	synonymous_variant	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38302448C>T	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.84G>A	2.37:g.38302448C>T							p.S28S	NM_000104	NP_000095	Q16678	CP1B1_HUMAN			3	487	-		all_hematologic(82;0.21)	28		S -> W (in POAG).			Q5TZW8|Q93089|Q9H316	Silent	SNP	ENST00000260630.3	37	c.84G>A	CCDS1793.1																																																																																				0.682	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3		NM_000104		5	13	0	0	0	1	0	5	13		
ABCG5	64240	broad.mit.edu	37	2	44041638	44041638	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:44041638G>A	ENST00000260645.1	-	12	1879	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	ABCG5_ENST00000543989.1_Silent_p.F185F|ABCG5_ENST00000405322.1_Silent_p.F409F	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	580	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCAGTCCGTAGAACTCATTGA	0.308																																						uc002rtn.2		NaN																	0				ovary(1)|skin(1)	2						c.(1738-1740)TTC>TTT		ATP-binding cassette sub-family G member 5							76.0	77.0	77.0					2																	44041638		2202	4295	6497	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44041638G>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1740C>T	2.37:g.44041638G>A						ABCG5_uc002rtm.2_Silent_p.F185F|ABCG5_uc002rto.2_Silent_p.F409F|ABCG5_uc002rtp.2_Silent_p.F185F	p.F580F	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			12	1880	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	580			Extracellular (Potential).|ABC transmembrane type-2.		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.1740C>T	CCDS1814.1																																																																																				0.308	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1		NM_022436		9	56	0	0	0	1	0	9	56		
MSH6	2956	broad.mit.edu	37	2	48027189	48027189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:48027189C>G	ENST00000234420.5	+	4	2219	c.2067C>G	c.(2065-2067)ttC>ttG	p.F689L	MSH6_ENST00000540021.1_Missense_Mutation_p.F559L|MSH6_ENST00000538136.1_Missense_Mutation_p.F387L|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	689					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTGTGTCTTCTACCTCAAAA	0.423			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.3		NaN	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	Mis|N|F|S	mutS homolog 6 (E. coli)			E		colorectal|endometrial|ovarian	colorectal		2	Whole gene deletion(2)		haematopoietic_and_lymphoid_tissue(2)	large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168						c.(2065-2067)TTC>TTG	MMR	mutS homolog 6							173.0	166.0	169.0					2																	48027189		2203	4300	6503	SO:0001583	missense	2956	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48027189C>G	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2067C>G	2.37:g.48027189C>G	ENSP00000234420:p.Phe689Leu					MSH6_uc002rwc.2_Missense_Mutation_p.F689L|MSH6_uc010fbj.2_Missense_Mutation_p.F387L|MSH6_uc010yoi.1_Missense_Mutation_p.F559L|MSH6_uc010yoj.1_Missense_Mutation_p.F387L	p.F689L	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2219	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	689					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.2067C>G	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684179	0.47991	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.87412	-2.25;-2.25;-2.25	5.01	4.13	0.48395	DNA mismatch repair protein MutS, connector (1);	0.048053	0.85682	D	0.000000	D	0.86814	0.6023	M	0.75777	2.31	0.80722	D	1	P;B;P	0.43607	0.772;0.372;0.812	B;B;B	0.44044	0.439;0.309;0.343	D	0.85690	0.1306	10	0.44086	T	0.13	-6.3628	9.7408	0.40418	0.0:0.8426:0.0:0.1574	.	559;689;689	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	L	689;687;559;387	ENSP00000234420:F689L;ENSP00000446475:F559L;ENSP00000438580:F387L	ENSP00000234420:F689L	F	+	3	2	MSH6	47880693	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.553000	0.45837	1.337000	0.45525	0.460000	0.39030	TTC		0.423	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4		NM_000179		54	169	0	0	0	1	0	54	169		
PNPT1	87178	broad.mit.edu	37	2	55900125	55900125	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:55900125G>T	ENST00000447944.2	-	9	855	c.769C>A	c.(769-771)Cag>Aag	p.Q257K		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	257					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGAATGCCCTGAATTATTTGT	0.398																																						uc002rzf.2		NaN																	0					0						c.(769-771)CAG>AAG		polyribonucleotide nucleotidyltransferase 1							133.0	139.0	137.0					2																	55900125		2203	4300	6503	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55900125G>T	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.769C>A	2.37:g.55900125G>T	ENSP00000400646:p.Gln257Lys					PNPT1_uc002rzg.2_RNA	p.Q257K	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		9	822	-			257					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.769C>A	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421655	0.43020	.	.	ENSG00000138035	ENST00000447944	T	0.40476	1.03	5.67	5.67	0.87782	Exoribonuclease, phosphorolytic domain 2 (1);	0.277274	0.36444	N	0.002587	T	0.28699	0.0711	N	0.08118	0	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.05468	-1.0883	10	0.35671	T	0.21	-0.0029	20.1272	0.97986	0.0:0.0:1.0:0.0	.	257	Q8TCS8	PNPT1_HUMAN	K	257	ENSP00000400646:Q257K	ENSP00000386075:Q257K	Q	-	1	0	PNPT1	55753629	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.289000	0.96061	2.828000	0.97474	0.655000	0.94253	CAG		0.398	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2		NM_033109		19	134	1	0	1.40151e-16	1	1.59955e-16	19	134		
ARHGAP25	9938	broad.mit.edu	37	2	69053293	69053293	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:69053293C>G	ENST00000295381.3	+	11	2324	c.1905C>G	c.(1903-1905)gtC>gtG	p.V635V	ARHGAP25_ENST00000409202.3_Silent_p.V636V|ARHGAP25_ENST00000409030.3_Silent_p.V628V|ARHGAP25_ENST00000409220.1_Silent_p.V629V|ARHGAP25_ENST00000467265.1_Silent_p.V596V|ARHGAP25_ENST00000479844.1_Silent_p.V329V	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	635					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						AGGAATTTGTCAAATCCATGA	0.552																																						uc002seu.2		NaN																	0				ovary(2)|breast(2)	4						c.(1903-1905)GTC>GTG		Rho GTPase activating protein 25 isoform a							83.0	87.0	86.0					2																	69053293		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.chr2:69053293C>G	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.1905C>G	2.37:g.69053293C>G						ARHGAP25_uc010fdg.2_Silent_p.V636V|ARHGAP25_uc010yql.1_Silent_p.V596V|ARHGAP25_uc002sew.2_Silent_p.V628V|ARHGAP25_uc002sex.2_Silent_p.V629V|ARHGAP25_uc002sey.2_Silent_p.V362V	p.V635V	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			11	2269	+			635			Potential.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37	c.1905C>G		.	.	.	.	.	.	.	.	.	.	C	9.155	1.017169	0.19355	.	.	ENSG00000163219	ENST00000497259	.	.	.	5.95	0.601	0.17529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8221	0.01113	0.2247:0.2625:0.2951:0.2177	.	.	.	.	X	495	.	.	S	+	2	0	ARHGAP25	68906797	0.732000	0.28121	0.684000	0.30055	0.943000	0.58893	-0.005000	0.12855	-0.187000	0.10516	0.655000	0.94253	TCA		0.552	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014882		12	73	0	0	0	1	0	12	73		
SFXN5	94097	broad.mit.edu	37	2	73226123	73226123	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73226123G>T	ENST00000272433.2	-	9	619	c.489C>A	c.(487-489)ttC>ttA	p.F163L	SFXN5_ENST00000410065.1_Missense_Mutation_p.F163L|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	163					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ATCCCTGGATGAACTTGGATG	0.592																																						uc002siq.2		NaN																	0				ovary(1)	1						c.(487-489)TTC>TTA		sideroflexin 5							114.0	104.0	108.0					2																	73226123		2203	4300	6503	SO:0001583	missense	94097				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr2:73226123G>T	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"""Sideroflexins"""	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.489C>A	2.37:g.73226123G>T	ENSP00000272433:p.Phe163Leu					SFXN5_uc002sio.2_Missense_Mutation_p.F55L|SFXN5_uc010yrc.1_Nonsense_Mutation_p.S20*|SFXN5_uc002sip.2_Intron|SFXN5_uc010fet.2_Missense_Mutation_p.F163L	p.F163L	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN			9	620	-			163			Helical; (Potential).		A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	ENST00000272433.2	37	c.489C>A	CCDS1922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.884624|1.884624	0.33255|0.33255	.|.	.|.	ENSG00000144040|ENSG00000144040	ENST00000272433;ENST00000410065;ENST00000442582|ENST00000411783	T;T;T|.	0.16324|.	2.35;2.35;2.35|.	6.07|6.07	4.29|4.29	0.51040|0.51040	.|.	0.090338|.	0.85682|.	D|.	0.000000|.	T|T	0.37433|0.37433	0.1003|0.1003	N|N	0.12527|0.12527	0.23|0.23	0.54753|0.54753	D|D	0.999988|0.999988	B;B|.	0.24651|.	0.108;0.028|.	B;B|.	0.24701|.	0.055;0.041|.	T|T	0.12656|0.12656	-1.0539|-1.0539	10|5	0.02654|.	T|.	1|.	-12.8694|-12.8694	10.904|10.904	0.47069|0.47069	0.152:0.0:0.848:0.0|0.152:0.0:0.848:0.0	.|.	163;163|.	B8ZZJ6;Q8TD22|.	.;SFXN5_HUMAN|.	L|N	163;163;142|153	ENSP00000272433:F163L;ENSP00000387076:F163L;ENSP00000396825:F142L|.	ENSP00000272433:F163L|.	F|H	-|-	3|1	2|0	SFXN5|SFXN5	73079631|73079631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	3.470000|3.470000	0.53100|0.53100	0.905000|0.905000	0.36596|0.36596	-0.145000|-0.145000	0.13849|0.13849	TTC|CAT		0.592	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1		NM_144579		8	32	1	0	5.18039e-06	1	5.46217e-06	8	32		
FBXO41	150726	broad.mit.edu	37	2	73487572	73487572	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73487572C>A	ENST00000521871.1	-	11	2809	c.2394G>T	c.(2392-2394)gaG>gaT	p.E798D	FBXO41_ENST00000520530.2_Missense_Mutation_p.E798D|FBXO41_ENST00000295133.5_Missense_Mutation_p.E859D			Q8TF61	FBX41_HUMAN	F-box protein 41	798								p.E422E(1)|p.E798E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCACCAGCATCTCCAGTCCCT	0.617																																						uc002sjb.1		NaN																	2	Substitution - coding silent(2)		lung(2)	breast(2)|pancreas(1)	3						c.(2575-2577)GAG>GAT		F-box protein 41							42.0	44.0	43.0					2																	73487572		2159	4276	6435	SO:0001583	missense	150726					intracellular	protein binding|zinc ion binding	g.chr2:73487572C>A	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2394G>T	2.37:g.73487572C>A	ENSP00000428646:p.Glu798Asp						p.E859D	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			11	2577	-			798					G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	c.2577G>T	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813486	0.70912	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	T;T	0.56103	0.48;0.48	4.94	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	N	0.24115	0.695	0.58432	D	0.999998	D	0.58970	0.984	D	0.68192	0.956	T	0.60010	-0.7346	10	0.59425	D	0.04	-25.0394	12.2027	0.54335	0.0:0.9164:0.0:0.0836	.	798	Q8TF61	FBX41_HUMAN	D	859;798	ENSP00000295133:E859D;ENSP00000428646:E798D	ENSP00000295133:E859D	E	-	3	2	FBXO41	73341080	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.853000	0.48317	1.312000	0.45043	0.561000	0.74099	GAG		0.617	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1				3	17	1	0	6.4e-05	1	6.66446e-05	3	17		
EGR4	1961	broad.mit.edu	37	2	73519500	73519500	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73519500G>A	ENST00000545030.1	-	2	929	c.855C>T	c.(853-855)gtC>gtT	p.V285V	EGR4_ENST00000436467.2_Silent_p.V182V	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	285	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCCGGGCTTGACGTCGGGCG	0.721																																						uc010yrj.1		NaN																	0					0						c.(853-855)GTC>GTT		early growth response 4							6.0	10.0	8.0					2																	73519500		2137	4206	6343	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73519500G>A		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.855C>T	2.37:g.73519500G>A						EGR4_uc010yrk.1_Silent_p.V284V	p.V285V	NM_001965	NP_001956	Q05215	EGR4_HUMAN			2	930	-			181					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.855C>T	CCDS1925.2																																																																																				0.721	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_001965		4	13	0	0	0	1	0	4	13		
TPRKB	51002	broad.mit.edu	37	2	73957849	73957849	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73957849C>G	ENST00000272424.5	-	4	385	c.279G>C	c.(277-279)ttG>ttC	p.L93F	TPRKB_ENST00000409716.2_Missense_Mutation_p.L132F|TPRKB_ENST00000318190.7_Missense_Mutation_p.L132F|TPRKB_ENST00000485758.1_5'UTR	NM_016058.2	NP_057142.1	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	93					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			lung(2)|ovary(1)|skin(1)	4						CAAATTTTTTCAAAGCCTCTG	0.308																																						uc002sjn.2		NaN																	0				ovary(1)|skin(1)	2						c.(277-279)TTG>TTC		TP53RK binding protein							58.0	59.0	58.0					2																	73957849		2202	4295	6497	SO:0001583	missense	51002				protein catabolic process	cytosol|nucleus	protein kinase binding	g.chr2:73957849C>G	AY157986	CCDS1927.1	2p24.3-p24.1	2008-02-05			ENSG00000144034	ENSG00000144034			24259	protein-coding gene	gene with protein product		608680				10810093, 12659830	Standard	NM_016058		Approved	CGI-121	uc002sjn.2	Q9Y3C4	OTTHUMG00000129815	ENST00000272424.5:c.279G>C	2.37:g.73957849C>G	ENSP00000272424:p.Leu93Phe					TPRKB_uc002sjm.2_Missense_Mutation_p.L132F|TPRKB_uc002sjl.2_Missense_Mutation_p.L60F|TPRKB_uc002sjo.2_Missense_Mutation_p.L93F|TPRKB_uc010yrm.1_Missense_Mutation_p.L60F	p.L93F	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN			4	390	-			93					D6W5H6|Q8IWR6|Q8IWR7|Q9H3K4	Missense_Mutation	SNP	ENST00000272424.5	37	c.279G>C	CCDS1927.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491101	0.26774	.	.	ENSG00000144034	ENST00000272424;ENST00000409716;ENST00000318190	T;T	0.45276	0.9;0.9	5.23	3.3	0.37823	.	0.117922	0.56097	D	0.000022	T	0.18882	0.0453	N	0.10733	0.035	0.35391	D	0.790795	B;B;B;B	0.24675	0.013;0.109;0.013;0.002	B;B;B;B	0.32677	0.04;0.15;0.021;0.004	T	0.14980	-1.0453	10	0.09590	T	0.72	.	3.9338	0.09298	0.1635:0.5889:0.1586:0.089	.	60;93;132;60	B4DHS0;Q9Y3C4;Q9Y3C4-3;Q9Y3C4-2	.;TPRKB_HUMAN;.;.	F	93;132;132	ENSP00000386936:L132F;ENSP00000325398:L132F	ENSP00000272424:L93F	L	-	3	2	TPRKB	73811357	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.679000	0.25291	1.354000	0.45846	0.655000	0.94253	TTG		0.308	TPRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252046.2		NM_016058		9	59	0	0	0	1	0	9	59		
SLC4A5	57835	broad.mit.edu	37	2	74466593	74466593	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74466593C>T	ENST00000377634.4	-	21	2587	c.2188G>A	c.(2188-2190)Ggg>Agg	p.G730R	SLC4A5_ENST00000357822.5_Missense_Mutation_p.G730R|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G730R|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G666R|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G730R|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G666R|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G730R|SLC4A5_ENST00000394019.2_Missense_Mutation_p.G730R|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCAGGCGCCCGCCGTAGCTC	0.537																																						uc002sko.1		NaN																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(2188-2190)GGG>AGG		sodium bicarbonate transporter 4 isoform a							76.0	74.0	75.0					2																	74466593		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74466593C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2188G>A	2.37:g.74466593C>T	ENSP00000366861:p.Gly730Arg					SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.G730R|SLC4A5_uc010ffc.1_Missense_Mutation_p.G730R|SLC4A5_uc002skp.1_Missense_Mutation_p.G666R|SLC4A5_uc002sks.1_Missense_Mutation_p.G730R	p.G730R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			16	2190	-			730			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000377634.4	37	c.2188G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973336	0.92919	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.33	5.33	0.75918	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90445	0.7008	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;1.0;1.0;1.0;1.0	D	0.92101	0.5688	10	0.87932	D	0	.	16.5607	0.84565	0.0:1.0:0.0:0.0	.	730;730;666;730;730	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	R	730;730;730;666;730;666;730;730;730;730	ENSP00000377587:G730R;ENSP00000251768:G730R;ENSP00000352461:G666R;ENSP00000395804:G730R;ENSP00000351513:G666R;ENSP00000350475:G730R;ENSP00000366859:G730R;ENSP00000366861:G730R;ENSP00000405678:G730R	ENSP00000251768:G730R	G	-	1	0	SLC4A5	74320101	1.000000	0.71417	0.986000	0.45419	0.965000	0.64279	7.651000	0.83577	2.771000	0.95319	0.561000	0.74099	GGG		0.537	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3				32	62	0	0	0	1	0	32	62		
MRPL53	116540	broad.mit.edu	37	2	74699709	74699709	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74699709C>G	ENST00000258105.7	-	1	740	c.79G>C	c.(79-81)Gtg>Ctg	p.V27L	MRPL53_ENST00000409710.1_Missense_Mutation_p.V27L	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	27						mitochondrion (GO:0005739)|ribosome (GO:0005840)				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						GTCGATTCCACGTTTTTCTCG	0.592																																						uc002sln.2		NaN																	0					0						c.(79-81)GTG>CTG		mitochondrial ribosomal protein L53 precursor							116.0	106.0	109.0					2																	74699709		2203	4300	6503	SO:0001583	missense	116540					mitochondrion|ribosome		g.chr2:74699709C>G	BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"""Mitochondrial ribosomal proteins / large subunits"""	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.79G>C	2.37:g.74699709C>G	ENSP00000258105:p.Val27Leu					CCDC142_uc002slo.2_RNA	p.V27L	NM_053050	NP_444278	Q96EL3	RM53_HUMAN			1	219	-			27						Missense_Mutation	SNP	ENST00000258105.7	37	c.79G>C	CCDS1944.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771800	0.69992	.	.	ENSG00000204822	ENST00000258105;ENST00000409710	T;T	0.62788	0.73;0.0	5.02	5.02	0.67125	.	0.062461	0.64402	D	0.000005	T	0.75057	0.3798	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	T	0.76913	-0.2783	10	0.62326	D	0.03	-33.9813	13.6971	0.62587	0.0:1.0:0.0:0.0	.	27	Q96EL3	RM53_HUMAN	L	27	ENSP00000258105:V27L;ENSP00000386920:V27L	ENSP00000258105:V27L	V	-	1	0	MRPL53	74553217	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	3.745000	0.55119	2.597000	0.87782	0.609000	0.83330	GTG		0.592	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252225.2		NM_053050		13	80	0	0	0	1	0	13	80		
LBX2	85474	broad.mit.edu	37	2	74725193	74725193	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74725193G>A	ENST00000377566.4	-	2	636	c.458C>T	c.(457-459)tCg>tTg	p.S153L	AC005041.17_ENST00000479098.1_RNA|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000460508.3_Missense_Mutation_p.S149L	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						CGCGCGTAGCGAGGCGACGTC	0.692																																						uc002slv.3		NaN																	0					0						c.(457-459)TCG>TTG		ladybird homeobox 2							51.0	50.0	50.0					2																	74725193		2203	4299	6502	SO:0001583	missense	85474					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74725193G>A	AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"""Homeoboxes / ANTP class : NKL subclass"""	15525	protein-coding gene	gene with protein product		607164	"""ladybird homeobox homolog 2 (Drosophila)"""			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.458C>T	2.37:g.74725193G>A	ENSP00000366789:p.Ser153Leu					LBX2_uc002slw.2_Missense_Mutation_p.S149L	p.S153L	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN			2	463	-			153					Q7Z5Y8	Missense_Mutation	SNP	ENST00000377566.4	37	c.458C>T		.	.	.	.	.	.	.	.	.	.	G	26.6	4.748947	0.89753	.	.	ENSG00000179528	ENST00000377566;ENST00000460508	D;D	0.91792	-2.81;-2.91	4.76	4.76	0.60689	.	0.000000	0.42172	D	0.000748	D	0.89615	0.6766	L	0.34521	1.04	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.52189	0.692;0.495	D	0.88757	0.3254	10	0.51188	T	0.08	.	8.8091	0.34956	0.0995:0.0:0.9005:0.0	.	149;153	Q6XYB7-2;Q6XYB7	.;LBX2_HUMAN	L	153;149	ENSP00000366789:S153L;ENSP00000417116:S149L	ENSP00000366789:S153L	S	-	2	0	LBX2	74578701	1.000000	0.71417	0.994000	0.49952	0.870000	0.49936	7.493000	0.81493	2.480000	0.83734	0.561000	0.74099	TCG		0.692	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1		NM_001009812		21	60	0	0	0	1	0	21	60		
DQX1	165545	broad.mit.edu	37	2	74749805	74749805	+	Nonsense_Mutation	SNP	G	G	C	rs145468372		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74749805G>C	ENST00000404568.3	-	8	1616	c.1397C>G	c.(1396-1398)tCa>tGa	p.S466*	DQX1_ENST00000393951.2_Nonsense_Mutation_p.S466*|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	466						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGGGAATTCTGATAGTATGAC	0.557																																						uc010yrw.1		NaN																	0				ovary(2)	2						c.(1396-1398)TCA>TGA		DEAQ box polypeptide 1 (RNA-dependent ATPase)							172.0	170.0	171.0					2																	74749805		2203	4300	6503	SO:0001587	stop_gained	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74749805G>C	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1397C>G	2.37:g.74749805G>C	ENSP00000384621:p.Ser466*					DQX1_uc002smc.2_Nonsense_Mutation_p.S27*	p.S466*	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			8	1562	-			466					Q6B017|Q8NAM8	Nonsense_Mutation	SNP	ENST00000404568.3	37	c.1397C>G	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	36	5.899630	0.97081	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	.	.	.	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.0325	15.2128	0.73238	0.0:0.0:1.0:0.0	.	.	.	.	X	466	.	ENSP00000377523:S466X	S	-	2	0	DQX1	74603313	1.000000	0.71417	0.511000	0.27724	0.671000	0.39405	9.587000	0.98229	2.459000	0.83118	0.555000	0.69702	TCA		0.557	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3		NM_133637		34	200	0	0	0	1	0	34	200		
LOXL3	84695	broad.mit.edu	37	2	74763222	74763222	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74763222G>C	ENST00000264094.3	-	7	1220	c.1149C>G	c.(1147-1149)ctC>ctG	p.L383L	LOXL3_ENST00000409549.1_Silent_p.L383L|LOXL3_ENST00000393937.2_Silent_p.L238L|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Silent_p.L238L	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	383	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GGCACTTCCAGAGGGAGAGCT	0.542																																						uc002smp.1		NaN																	0					0						c.(1147-1149)CTC>CTG		lysyl oxidase-like 3 precursor							86.0	87.0	86.0					2																	74763222		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763222G>C	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1149C>G	2.37:g.74763222G>C						LOXL3_uc002smo.1_Silent_p.L22L|LOXL3_uc010ffm.1_Silent_p.L383L|LOXL3_uc002smq.1_Silent_p.L238L|LOXL3_uc010ffn.1_Silent_p.L238L	p.L383L	NM_032603	NP_115992	P58215	LOXL3_HUMAN			7	1221	-			383			SRCR 3.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.1149C>G	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	6.211	0.407010	0.11754	.	.	ENSG00000115318	ENST00000420535	T	0.58652	0.32	5.09	2.27	0.28462	.	0.065791	0.64402	D	0.000009	T	0.56321	0.1977	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50457	-0.8826	7	0.41790	T	0.15	.	6.4083	0.21676	0.1739:0.1515:0.6746:0.0	.	.	.	.	V	110	ENSP00000404026:L110V	ENSP00000404026:L110V	L	-	1	2	LOXL3	74616730	0.997000	0.39634	0.996000	0.52242	0.993000	0.82548	0.270000	0.18607	0.392000	0.25172	0.551000	0.68910	CTG		0.542	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1		NM_032603		18	101	0	0	0	1	0	18	101		
LRRTM1	347730	broad.mit.edu	37	2	80530006	80530006	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:80530006C>T	ENST00000295057.3	-	2	1595	c.939G>A	c.(937-939)ggG>ggA	p.G313G	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.G313G|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	313					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCCACAGGTTCCCGGCCAGGG	0.632										HNSCC(69;0.2)																												uc002sok.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(937-939)GGG>GGA		leucine rich repeat transmembrane neuronal 1							44.0	43.0	43.0					2																	80530006		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530006C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.939G>A	2.37:g.80530006C>T		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.G313G	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1209	-			313			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.939G>A	CCDS1966.1																																																																																				0.632	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1		NM_178839		18	35	0	0	0	1	0	18	35		
RPIA	22934	broad.mit.edu	37	2	88999546	88999546	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:88999546G>C	ENST00000283646.4	+	3	421	c.366G>C	c.(364-366)gaG>gaC	p.E122D		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	122					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TGAAGCAAGAGAATCTGAACC	0.453																																						uc002ste.2		NaN																	0				ovary(1)	1						c.(364-366)GAG>GAC		ribose 5-phosphate isomerase A							166.0	158.0	161.0					2																	88999546		1899	4130	6029	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:88999546G>C	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.366G>C	2.37:g.88999546G>C	ENSP00000283646:p.Glu122Asp						p.E122D	NM_144563	NP_653164	P49247	RPIA_HUMAN			3	407	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	122					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.366G>C	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237517	0.39498	.	.	ENSG00000153574	ENST00000283646	T	0.76316	-1.01	5.95	4.9	0.64082	.	0.103529	0.64402	D	0.000004	T	0.63200	0.2491	N	0.25380	0.74	0.51233	D	0.999913	B	0.31968	0.349	B	0.29267	0.1	T	0.60662	-0.7219	10	0.30078	T	0.28	-35.3089	10.8969	0.47027	0.097:0.0:0.903:0.0	.	122	P49247	RPIA_HUMAN	D	122	ENSP00000283646:E122D	ENSP00000283646:E122D	E	+	3	2	RPIA	88780661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.065000	0.41442	2.824000	0.97209	0.655000	0.94253	GAG		0.453	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2				11	95	0	0	0	1	0	11	95		
VWA3B	200403	broad.mit.edu	37	2	98844712	98844712	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:98844712T>G	ENST00000477737.1	+	15	2271	c.2067T>G	c.(2065-2067)agT>agG	p.S689R		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	689										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGGGTCACAGTGATCTGGAGA	0.418																																						uc002syo.2		NaN																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(2065-2067)AGT>AGG		von Willebrand factor A domain containing 3B							110.0	111.0	110.0					2																	98844712		2003	4165	6168	SO:0001583	missense	200403							g.chr2:98844712T>G	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2067T>G	2.37:g.98844712T>G	ENSP00000417955:p.Ser689Arg					VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.S208R|VWA3B_uc002sym.2_Missense_Mutation_p.S689R|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.S346R|VWA3B_uc002syp.1_Missense_Mutation_p.S81R|VWA3B_uc002syq.1_Intron|VWA3B_uc002syr.1_Missense_Mutation_p.S6R	p.S689R	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			15	2331	+			689					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2067T>G	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.007|0.007	-1.972412|-1.972412	0.00457|0.00457	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.05717|.	3.4|.	5.71|5.71	-6.71|-6.71	0.01760|0.01760	.|.	1.105370|.	0.06662|.	N|.	0.764691|.	T|.	0.28433|.	0.0703|.	N|N	0.14661|0.14661	0.345|0.345	0.39787|0.39787	D|D	0.972387|0.972387	B;B;B;B|.	0.06786|.	0.0;0.0;0.001;0.001|.	B;B;B;B|.	0.06405|.	0.001;0.0;0.002;0.002|.	T|.	0.19582|.	-1.0301|.	10|.	0.11794|.	T|.	0.64|.	.|.	5.3519|5.3519	0.16040|0.16040	0.4183:0.3659:0.0:0.2158|0.4183:0.3659:0.0:0.2158	.|.	81;689;689;689|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	R|G	689|100	ENSP00000417955:S689R|.	ENSP00000417955:S689R|.	S|X	+|+	3|1	2|0	VWA3B|VWA3B	98211144|98211144	0.043000|0.043000	0.20138|0.20138	0.037000|0.037000	0.18230|0.18230	0.011000|0.011000	0.07611|0.07611	-0.498000|-0.498000	0.06420|0.06420	-1.067000|-1.067000	0.03160|0.03160	-0.456000|-0.456000	0.05471|0.05471	AGT|TGA		0.418	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2		NM_144992		20	88	0	0	0	1	0	20	88		
IL18RAP	8807	broad.mit.edu	37	2	103068601	103068601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:103068601C>G	ENST00000264260.2	+	12	2349	c.1760C>G	c.(1759-1761)aCa>aGa	p.T587R	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T445R	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	587					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTCAGTAGAACAGAAACCACT	0.507																																						uc002tbx.2		NaN																	0				skin(3)|ovary(2)	5						c.(1759-1761)ACA>AGA		interleukin 18 receptor accessory protein							88.0	99.0	95.0					2																	103068601		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068601C>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1760C>G	2.37:g.103068601C>G	ENSP00000264260:p.Thr587Arg					IL18RAP_uc010fiz.2_Missense_Mutation_p.T445R	p.T587R	NM_003853	NP_003844	O95256	I18RA_HUMAN			12	2244	+			587			Cytoplasmic (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1760C>G	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	0.228	-1.022978	0.02061	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02579	4.31;4.24	6.02	0.798	0.18660	.	1.907070	0.02688	N	0.110337	T	0.02649	0.0080	N	0.19112	0.55	0.09310	N	1	B	0.25048	0.117	B	0.18263	0.021	T	0.42599	-0.9442	10	0.34782	T	0.22	.	7.0353	0.24991	0.0:0.4723:0.3224:0.2052	.	587	O95256	I18RA_HUMAN	R	587;445	ENSP00000264260:T587R;ENSP00000387201:T445R	ENSP00000264260:T587R	T	+	2	0	IL18RAP	102435033	0.000000	0.05858	0.070000	0.20053	0.017000	0.09413	-1.535000	0.02210	0.460000	0.27045	-0.753000	0.03488	ACA		0.507	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2		NM_003853		28	108	0	0	0	1	0	28	108		
RGPD3	653489	broad.mit.edu	37	2	107040564	107040564	+	Missense_Mutation	SNP	C	C	T	rs55993306	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:107040564C>T	ENST00000409886.3	-	20	3946	c.3859G>A	c.(3859-3861)Gag>Aag	p.E1287K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1287K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1287					protein targeting to Golgi (GO:0000042)			p.E1287K(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTTGTTGACTCATCAAAGTGG	0.408													.|||	714	0.142572	0.1021	0.1095	5008	,	,		15360	0.0724		0.2227	False		,,,				2504	0.2106					uc010ywi.1		NaN																	2	Substitution - Missense(2)		kidney(2)	ovary(1)	1						c.(3859-3861)GAG>AAG		RANBP2-like and GRIP domain containing 3		C	LYS/GLU	162,1158		31,100,529	162.0	121.0	134.0		3859	2.3	1.0	2	dbSNP_129	134	736,2294		196,344,975	no	missense	RGPD3	NM_001144013.1	56	227,444,1504	TT,TC,CC		24.2904,12.2727,20.6437	possibly-damaging	1287/1759	107040564	898,3452	660	1515	2175	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107040564C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3859G>A	2.37:g.107040564C>T	ENSP00000386588:p.Glu1287Lys						p.E1287K	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			20	3916	-			1287					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.3859G>A	CCDS46379.1	326	0.14926739926739926	69	0.1402439024390244	41	0.1132596685082873	37	0.06468531468531469	179	0.23614775725593667	.	9.178	1.022948	0.19433	0.122727	0.242904	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.40756	1.03;1.02	2.35	2.35	0.29111	.	.	.	.	.	T	0.00012	0.0000	L	0.34521	1.04	0.30981	P	0.722513	D	0.54772	0.968	P	0.50405	0.64	T	0.03433	-1.1037	8	0.06236	T	0.91	-28.1101	10.4115	0.44296	0.0:1.0:0.0:0.0	rs55993306	1287	A6NKT7	RGPD3_HUMAN	K	1287	ENSP00000386588:E1287K;ENSP00000303659:E1287K	ENSP00000303659:E1287K	E	-	1	0	RGPD3	106406996	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	7.578000	0.82498	1.314000	0.45095	0.186000	0.17326	GAG		0.408	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1		XM_929931		10	162	0	0	0	1	0	10	162		
PTPN4	5775	broad.mit.edu	37	2	120703971	120703971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:120703971G>A	ENST00000263708.2	+	17	2341	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	PTPN4_ENST00000544261.1_Missense_Mutation_p.E157K	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	524	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GAAACCTGATGAAAATGGGAG	0.269																																						uc002tmf.1		NaN																	0				ovary(2)	2						c.(1570-1572)GAA>AAA		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						113.0	122.0	119.0					2																	120703971		2203	4299	6502	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120703971G>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1570G>A	2.37:g.120703971G>A	ENSP00000263708:p.Glu524Lys					PTPN4_uc010flj.1_Missense_Mutation_p.E237K|PTPN4_uc010yyr.1_Missense_Mutation_p.E157K	p.E524K	NM_002830	NP_002821	P29074	PTN4_HUMAN			17	2341	+			524			PDZ.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1570G>A	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505979	0.85282	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.25912	1.77;1.77;1.77	5.28	5.28	0.74379	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	L	0.37850	1.14	0.80722	D	1	D	0.53619	0.961	P	0.52672	0.706	T	0.03945	-1.0990	10	0.52906	T	0.07	.	19.2695	0.94003	0.0:0.0:1.0:0.0	.	524	P29074	PTN4_HUMAN	K	524;157;150	ENSP00000263708:E524K;ENSP00000445841:E157K;ENSP00000387457:E150K	ENSP00000263708:E524K	E	+	1	0	PTPN4	120420441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.705000	0.98719	2.608000	0.88229	0.655000	0.94253	GAA		0.269	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2				21	79	0	0	0	1	0	21	79		
CLASP1	23332	broad.mit.edu	37	2	122145474	122145474	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:122145474C>A	ENST00000263710.4	-	31	3521	c.3132G>T	c.(3130-3132)caG>caT	p.Q1044H	CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1022H|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q800H|CLASP1_ENST00000545861.1_Missense_Mutation_p.Q790H|CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1039H|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1023H|CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1016H	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1044					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTAGCACAATCTGTGCTGCCT	0.333																																						uc002tnc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3130-3132)CAG>CAT		CLIP-associating protein 1 isoform 1							81.0	76.0	77.0					2																	122145474		1852	4103	5955	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122145474C>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3132G>T	2.37:g.122145474C>A	ENSP00000263710:p.Gln1044His					CLASP1_uc010yyv.1_Missense_Mutation_p.Q129H|CLASP1_uc002tmz.2_Missense_Mutation_p.Q129H|CLASP1_uc002tna.2_Missense_Mutation_p.Q129H|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.Q1024H|CLASP1_uc010yza.1_Missense_Mutation_p.Q1016H|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tnf.2_5'UTR	p.Q1044H	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			30	3522	-	Renal(3;0.0496)		1044					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.3132G>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.943675	0.73672	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	6.02	-7.69	0.01263	Armadillo-like helical (1);Armadillo-type fold (1);	0.047845	0.85682	N	0.000000	T	0.74718	0.3753	M	0.61703	1.905	0.51012	D	0.999906	D;D;D	0.89917	0.996;1.0;0.998	D;D;D	0.87578	0.986;0.998;0.993	T	0.80542	-0.1336	10	0.87932	D	0	-4.549	17.5441	0.87856	0.0:0.5715:0.0:0.4285	.	1016;1023;1044	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	H	1044;1039;1023;1022;800;1016;790	ENSP00000263710:Q1044H;ENSP00000389372:Q1039H;ENSP00000380717:Q1023H;ENSP00000441625:Q1022H;ENSP00000441770:Q800H;ENSP00000386442:Q1016H;ENSP00000438620:Q790H	ENSP00000263710:Q1044H	Q	-	3	2	CLASP1	121861944	0.997000	0.39634	0.762000	0.31397	0.991000	0.79684	0.433000	0.21477	-1.371000	0.02141	-0.238000	0.12139	CAG		0.333	CLASP1-201	KNOWN	basic	protein_coding	protein_coding			NM_015282		7	33	1	0	8.12818e-05	1	8.44313e-05	7	33		
ERCC3	2071	broad.mit.edu	37	2	128018835	128018835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:128018835C>T	ENST00000285398.2	-	13	2127	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K	ERCC3_ENST00000493187.2_Missense_Mutation_p.R614K	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	678	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACCAAGAATCTCTGCCGCTT	0.463			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1		NaN	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(2032-2034)AGA>AAA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							192.0	155.0	168.0					2																	128018835		2203	4300	6503	SO:0001583	missense	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128018835C>T	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.2033G>A	2.37:g.128018835C>T	ENSP00000285398:p.Arg678Lys					ERCC3_uc002toe.1_Missense_Mutation_p.R433K|ERCC3_uc002tof.1_Missense_Mutation_p.R614K|ERCC3_uc002tog.1_Missense_Mutation_p.R614K	p.R678K	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	13	2128	-	Colorectal(110;0.1)		678			Helicase C-terminal.		Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.2033G>A	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194330	0.58017	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.76060	-0.99;-0.99	4.29	4.29	0.51040	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	M	0.65498	2.005	0.80722	D	1	B	0.20780	0.048	B	0.16722	0.016	T	0.72669	-0.4223	10	0.45353	T	0.12	-18.9457	17.2787	0.87122	0.0:1.0:0.0:0.0	.	678	P19447	ERCC3_HUMAN	K	678;614	ENSP00000285398:R678K;ENSP00000444796:R614K	ENSP00000285398:R678K	R	-	2	0	ERCC3	127735305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.298000	0.78815	2.372000	0.80975	0.563000	0.77884	AGA		0.463	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1		NM_000122		13	38	0	0	0	1	0	13	38		
NCKAP5	344148	broad.mit.edu	37	2	133541789	133541789	+	Silent	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:133541789A>G	ENST00000409261.1	-	14	2968	c.2595T>C	c.(2593-2595)atT>atC	p.I865I	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.I865I|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	865										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AATGTTTTGGAATGTGTGGAT	0.542																																						uc002ttp.2		NaN																	0					0						c.(2593-2595)ATT>ATC		Nck-associated protein 5 isoform 1							76.0	77.0	77.0					2																	133541789		1966	4153	6119	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133541789A>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2595T>C	2.37:g.133541789A>G						NCKAP5_uc002ttq.2_Intron	p.I865I	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	2969	-			865					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.2595T>C	CCDS46418.1																																																																																				0.542	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		23	84	0	0	0	1	0	23	84		
RAB3GAP1	22930	broad.mit.edu	37	2	135908057	135908057	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:135908057C>T	ENST00000264158.8	+	18	2085	c.2042C>T	c.(2041-2043)tCa>tTa	p.S681L	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S681L|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S637L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	681					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTCTGCTCTCAGATATGGAG	0.468																																						uc002tuj.2		NaN																	0				ovary(1)|skin(1)	2						c.(2041-2043)TCA>TTA		RAB3 GTPase-activating protein							69.0	68.0	68.0					2																	135908057		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135908057C>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2042C>T	2.37:g.135908057C>T	ENSP00000264158:p.Ser681Leu					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.S681L|RAB3GAP1_uc010fng.2_Missense_Mutation_p.S506L|RAB3GAP1_uc010fnh.1_RNA	p.S681L	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	18	2067	+			681					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2042C>T	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235023	0.95207	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.72725	-0.66;-0.67;-0.68	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.88310	0.6402	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90126	0.4203	10	0.87932	D	0	-13.5539	19.8893	0.96923	0.0:1.0:0.0:0.0	.	681;681	C9J837;Q15042	.;RB3GP_HUMAN	L	681;637;681	ENSP00000264158:S681L;ENSP00000444306:S637L;ENSP00000411418:S681L	ENSP00000264158:S681L	S	+	2	0	RAB3GAP1	135624527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.778000	0.85637	2.704000	0.92352	0.585000	0.79938	TCA		0.468	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2		NM_012233		4	42	0	0	0	1	0	4	42		
NR4A2	4929	broad.mit.edu	37	2	157186448	157186448	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:157186448G>A	ENST00000339562.4	-	3	613	c.251C>T	c.(250-252)tCc>tTc	p.S84F	NR4A2_ENST00000426264.1_Missense_Mutation_p.S21F|NR4A2_ENST00000429376.1_Missense_Mutation_p.S21F|NR4A2_ENST00000409108.2_Missense_Mutation_p.S84F|NR4A2_ENST00000539077.1_Missense_Mutation_p.S95F|NR4A2_ENST00000409572.1_Missense_Mutation_p.S84F	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	84	Gln-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTGCTGTCCGGACAGGGGCAT	0.542																																						uc002tyz.3		NaN																	0				ovary(3)	3						c.(250-252)TCC>TTC		nuclear receptor subfamily 4, group A, member 2							155.0	135.0	142.0					2																	157186448		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186448G>A	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.251C>T	2.37:g.157186448G>A	ENSP00000344479:p.Ser84Phe					NR4A2_uc002tyx.3_Missense_Mutation_p.S21F|NR4A2_uc010zcf.1_Missense_Mutation_p.S84F|NR4A2_uc010zcg.1_5'Flank	p.S84F	NM_006186	NP_006177	P43354	NR4A2_HUMAN			3	673	-			84			Gln-rich.		Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.251C>T	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081075	0.76528	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709	D;D;D;D;D;D;T;D	0.92911	-2.92;-3.04;-2.92;-2.93;-3.13;-3.1;-1.26;-2.53	5.94	5.94	0.96194	.	.	.	.	.	D	0.93729	0.7996	L	0.58101	1.795	0.80722	D	1	P	0.52577	0.954	P	0.51385	0.668	D	0.93786	0.7088	9	0.87932	D	0	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	84	P43354	NR4A2_HUMAN	F	84;21;84;95;84;21;84;21	ENSP00000344479:S84F;ENSP00000389986:S21F;ENSP00000386747:S84F;ENSP00000444925:S95F;ENSP00000386993:S84F;ENSP00000410952:S21F;ENSP00000406808:S84F;ENSP00000388120:S21F	ENSP00000344479:S84F	S	-	2	0	NR4A2	156894694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	TCC		0.542	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2				17	82	0	0	0	1	0	17	82		
TANC1	85461	broad.mit.edu	37	2	160042372	160042372	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:160042372G>C	ENST00000263635.6	+	15	2818	c.2581G>C	c.(2581-2583)Gag>Cag	p.E861Q	TANC1_ENST00000454300.1_Missense_Mutation_p.E755Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	861					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCAGACCATGGAGCTTGGCCA	0.522																																						uc002uag.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2581-2583)GAG>CAG		tetratricopeptide repeat, ankyrin repeat and							69.0	72.0	71.0					2																	160042372		2111	4213	6324	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160042372G>C	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2581G>C	2.37:g.160042372G>C	ENSP00000263635:p.Glu861Gln					TANC1_uc010zcm.1_Missense_Mutation_p.E853Q|TANC1_uc010fom.1_Missense_Mutation_p.E667Q	p.E861Q	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			15	2855	+			861					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2581G>C	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	36	5.617123	0.96649	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.73152	-0.7;-0.72	6.1	6.1	0.99115	.	0.095535	0.64402	D	0.000001	D	0.86197	0.5875	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.85130	0.994;0.997;0.951	D	0.86311	0.1686	10	0.87932	D	0	.	20.7146	0.99709	0.0:0.0:1.0:0.0	.	853;755;861	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	Q	755;861	ENSP00000396339:E755Q;ENSP00000263635:E861Q	ENSP00000263635:E861Q	E	+	1	0	TANC1	159750618	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.902000	0.99343	0.650000	0.86243	GAG		0.522	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1				7	23	0	0	0	1	0	7	23		
SCN1A	6323	broad.mit.edu	37	2	166908450	166908450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:166908450G>C	ENST00000303395.4	-	6	742	c.743C>G	c.(742-744)tCa>tGa	p.S248*	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.S248*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.S248*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.S248*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	248					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATTACATCTGAGAGCTTCTT	0.423																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(742-744)TCA>TGA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						96.0	96.0	96.0					2																	166908450		2203	4299	6502	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908450G>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.743C>G	2.37:g.166908450G>C	ENSP00000303540:p.Ser248*					SCN1A_uc002udo.3_Nonsense_Mutation_p.S117*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.S117*	p.S248*	NM_006920	NP_008851	P35498	SCN1A_HUMAN			6	761	-			248			I.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.743C>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710307	0.89018	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.41	5.41	0.78517	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5538	0.95333	0.0:0.0:1.0:0.0	.	.	.	.	X	248	.	ENSP00000303540:S248X	S	-	2	0	SCN1A	166616696	1.000000	0.71417	0.960000	0.40013	0.521000	0.34408	7.893000	0.87330	2.688000	0.91661	0.655000	0.94253	TCA		0.423	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		17	76	0	0	0	1	0	17	76		
METTL5	29081	broad.mit.edu	37	2	170669018	170669018	+	Splice_Site	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:170669018T>C	ENST00000260953.5	-	6	858		c.e6-2		METTL5_ENST00000308099.3_Splice_Site|METTL5_ENST00000409837.1_Splice_Site|METTL5_ENST00000392640.2_Splice_Site|METTL5_ENST00000409340.1_Splice_Site|METTL5_ENST00000409965.1_Splice_Site|METTL5_ENST00000410097.1_Splice_Site	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5								methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						ATCGAAGTTCTGTAAAACAAA	0.358																																						uc002ufn.2		NaN																	0				central_nervous_system(1)	1						c.e6-1		methyltransferase like 5							120.0	122.0	121.0					2																	170669018		2203	4300	6503	SO:0001630	splice_region_variant	29081						methyltransferase activity|nucleic acid binding	g.chr2:170669018T>C	AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.542-2A>G	2.37:g.170669018T>C						METTL5_uc002ufo.2_Splice_Site_p.E181_splice|METTL5_uc002ufp.2_Splice_Site_p.E181_splice|METTL5_uc002ufq.1_Intron	p.E181_splice	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN			6	788	-								D3DPC9|Q9NVX1	Splice_Site	SNP	ENST00000260953.5	37	c.542_splice	CCDS33320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.79|19.79	3.892980|3.892980	0.72524|0.72524	.|.	.|.	ENSG00000138382|ENSG00000138382	ENST00000409837;ENST00000409340;ENST00000260953;ENST00000409965;ENST00000392640;ENST00000308099;ENST00000410097;ENST00000538491|ENST00000442181	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71779	.|0.3380	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71159	.|-0.4674	.|4	.|.	.|.	.|.	.|.	15.6659|15.6659	0.77230|0.77230	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|R	-1|97	.|.	.|.	.|Q	-|-	.|2	.|0	METTL5|METTL5	170377264|170377264	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.991000|0.991000	0.79684|0.79684	5.947000|5.947000	0.70242|0.70242	2.108000|2.108000	0.64289|0.64289	0.482000|0.482000	0.46254|0.46254	.|CAG		0.358	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1		NM_014168	Intron	34	64	0	0	0	1	0	34	64		
HAT1	8520	broad.mit.edu	37	2	172822425	172822425	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:172822425C>G	ENST00000264108.4	+	6	643	c.607C>G	c.(607-609)Cta>Gta	p.L203V	HAT1_ENST00000392584.1_Missense_Mutation_p.L118V|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	203					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCACTACTTTCTAGTGTAAGT	0.378																																						uc002uhi.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(607-609)CTA>GTA		histone acetyltransferase 1							132.0	123.0	126.0					2																	172822425		2203	4300	6503	SO:0001583	missense	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172822425C>G	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.607C>G	2.37:g.172822425C>G	ENSP00000264108:p.Leu203Val					HAT1_uc010fqi.2_Missense_Mutation_p.L38V|HAT1_uc002uhj.2_Missense_Mutation_p.L118V	p.L203V	NM_003642	NP_003633	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		6	683	+			203					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.607C>G	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	C	5.046	0.194142	0.09599	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.93	5.06	0.68205	Acyl-CoA N-acyltransferase (2);	0.059507	0.64402	D	0.000002	T	0.54367	0.1854	L	0.33189	0.99	0.58432	D	0.999998	B;B	0.21225	0.052;0.053	B;B	0.22152	0.038;0.017	T	0.54105	-0.8343	9	0.87932	D	0	-16.8624	15.6963	0.77502	0.2489:0.7511:0.0:0.0	.	118;203	O14929-2;O14929	.;HAT1_HUMAN	V	118;203	.	ENSP00000264108:L203V	L	+	1	2	HAT1	172530671	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.972000	0.63756	1.536000	0.49237	-0.189000	0.12847	CTA		0.378	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1		NM_003642		20	115	0	0	0	1	0	20	115		
HAT1	8520	broad.mit.edu	37	2	172841129	172841129	+	Missense_Mutation	SNP	G	G	A	rs140409528		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:172841129G>A	ENST00000264108.4	+	9	893	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	HAT1_ENST00000392584.1_Missense_Mutation_p.R201Q|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	286					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTGAAATTACGAGACTTTGTG	0.353																																						uc002uhi.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(856-858)CGA>CAA		histone acetyltransferase 1		G	GLN/ARG	0,4406		0,0,2203	89.0	87.0	88.0		857	4.8	1.0	2	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense	HAT1	NM_003642.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	286/420	172841129	1,13005	2203	4300	6503	SO:0001583	missense	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172841129G>A	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.857G>A	2.37:g.172841129G>A	ENSP00000264108:p.Arg286Gln					HAT1_uc010fqi.2_Missense_Mutation_p.R121Q|HAT1_uc002uhj.2_Missense_Mutation_p.R201Q	p.R286Q	NM_003642	NP_003633	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	933	+			286					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.857G>A	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179160	0.94846	0.0	1.16E-4	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.63	4.75	0.60458	Acyl-CoA N-acyltransferase (2);	0.159275	0.64402	D	0.000011	D	0.85008	0.5599	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88655	0.3185	9	0.87932	D	0	-30.8198	14.7451	0.69485	0.0698:0.0:0.9302:0.0	.	201;286	O14929-2;O14929	.;HAT1_HUMAN	Q	201;286	.	ENSP00000264108:R286Q	R	+	2	0	HAT1	172549375	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.132000	0.94455	1.493000	0.48517	0.655000	0.94253	CGA		0.353	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1		NM_003642		20	40	0	0	0	1	0	20	40		
OSBPL6	114880	broad.mit.edu	37	2	179197760	179197760	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179197760G>A	ENST00000190611.4	+	8	1025	c.649G>A	c.(649-651)Gat>Aat	p.D217N	OSBPL6_ENST00000409045.3_Missense_Mutation_p.D217N|OSBPL6_ENST00000357080.4_Missense_Mutation_p.D217N|OSBPL6_ENST00000409631.1_Missense_Mutation_p.D217N|OSBPL6_ENST00000359685.3_Missense_Mutation_p.D217N|OSBPL6_ENST00000392505.2_Missense_Mutation_p.D217N|OSBPL6_ENST00000315022.2_Missense_Mutation_p.D196N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	217					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTGTAATGGATGGAAAGGT	0.398																																						uc002ulx.2		NaN																	0				pancreas(1)	1						c.(649-651)GAT>AAT		oxysterol-binding protein-like protein 6 isoform							72.0	64.0	67.0					2																	179197760		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179197760G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.649G>A	2.37:g.179197760G>A	ENSP00000190611:p.Asp217Asn					OSBPL6_uc002ulw.2_Missense_Mutation_p.D217N|OSBPL6_uc002uly.2_Missense_Mutation_p.D217N|OSBPL6_uc010zfe.1_Missense_Mutation_p.D217N|OSBPL6_uc002ulz.2_Missense_Mutation_p.D217N|OSBPL6_uc002uma.2_Missense_Mutation_p.D196N	p.D217N	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		8	1027	+			217					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.649G>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935255	0.52866	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000361154;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.11385	2.79;2.79;2.78;2.8;2.79;2.79;2.8	5.87	5.87	0.94306	.	0.262382	0.44097	D	0.000482	T	0.08133	0.0203	N	0.08118	0	0.54753	D	0.999989	B;P;B;B;B;B	0.37663	0.0;0.604;0.241;0.374;0.09;0.241	B;B;B;B;B;B	0.38954	0.002;0.208;0.104;0.286;0.034;0.08	T	0.46541	-0.9184	10	0.18276	T	0.48	-20.1321	20.2181	0.98305	0.0:0.0:1.0:0.0	.	217;196;217;217;217;217	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	N	217;217;2;217;217;217;217;196	ENSP00000376293:D217N;ENSP00000352713:D217N;ENSP00000349591:D217N;ENSP00000387248:D217N;ENSP00000190611:D217N;ENSP00000386885:D217N;ENSP00000318723:D196N	ENSP00000190611:D217N	D	+	1	0	OSBPL6	178906006	1.000000	0.71417	0.986000	0.45419	0.808000	0.45660	8.368000	0.90115	2.785000	0.95823	0.655000	0.94253	GAT		0.398	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2		NM_032523		10	59	0	0	0	1	0	10	59		
TTN	7273	broad.mit.edu	37	2	179603040	179603040	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179603040C>T	ENST00000591111.1	-	47	13413	c.13189G>A	c.(13189-13191)Ggc>Agc	p.G4397S	TTN_ENST00000359218.5_Missense_Mutation_p.G4476S|TTN_ENST00000460472.2_Missense_Mutation_p.G4351S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G4543S|TTN_ENST00000342992.6_Missense_Mutation_p.G3470S|TTN_ENST00000589042.1_Missense_Mutation_p.G4714S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12154	Ig-like 24.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTAGGTGGCCCAGTGCTACT	0.483																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10408-10410)GGC>AGC		titin isoform N2-A							71.0	64.0	66.0					2																	179603040		1871	4105	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179603040C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13189G>A	2.37:g.179603040C>T	ENSP00000465570:p.Gly4397Ser					TTN_uc010zfh.1_Missense_Mutation_p.G4543S|TTN_uc010zfi.1_Missense_Mutation_p.G4476S|TTN_uc010zfj.1_Missense_Mutation_p.G4351S|TTN_uc002umz.1_Missense_Mutation_p.G131S	p.G3470S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10632	-			4397					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10408G>A		.	.	.	.	.	.	.	.	.	.	C	17.11	3.306583	0.60305	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88599	0.6480	M	0.83603	2.65	0.32121	N	0.587985	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.64506	0.926;0.926;0.926;0.926	D	0.89924	0.4061	9	0.87932	D	0	.	10.6547	0.45667	0.0:0.8826:0.0:0.1174	.	4351;4476;4543;4397	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	3470;4351;4543;4476;4351	ENSP00000343764:G3470S;ENSP00000434586:G4351S;ENSP00000340554:G4543S;ENSP00000352154:G4476S	ENSP00000340554:G4543S	G	-	1	0	TTN	179311285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.956000	0.70315	2.689000	0.91719	0.462000	0.41574	GGC		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		7	26	0	0	0	1	0	7	26		
TTN	7273	broad.mit.edu	37	2	179605533	179605533	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179605533G>T	ENST00000591111.1	-	46	11700	c.11476C>A	c.(11476-11478)Ctc>Atc	p.L3826I	TTN_ENST00000359218.5_Missense_Mutation_p.L3905I|TTN_ENST00000460472.2_Missense_Mutation_p.L3780I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L3972I|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L4143I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCCTTGAGAGGCTGAAAG	0.473																																						uc010zfh.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11914-11916)CTC>ATC		titin isoform novex-2							158.0	155.0	156.0					2																	179605533		1934	4137	6071	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605533G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11476C>A	2.37:g.179605533G>T	ENSP00000465570:p.Leu3826Ile					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3905I|TTN_uc010zfj.1_Missense_Mutation_p.L3780I|TTN_uc002umz.1_Intron	p.L3972I	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12138	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11914C>A		.	.	.	.	.	.	.	.	.	.	G	9.479	1.097701	0.20552	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59638	0.28;0.25;0.25	5.36	-2.56	0.06268	.	.	.	.	.	T	0.26810	0.0656	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17715	-1.0360	9	0.87932	D	0	.	6.8123	0.23811	0.0:0.2821:0.43:0.2878	.	3780;3905;3972	D3DPF9;E7EQE6;E7ET18	.;.;.	I	3780;3972;3905;3780	ENSP00000434586:L3780I;ENSP00000340554:L3972I;ENSP00000352154:L3905I	ENSP00000340554:L3972I	L	-	1	0	TTN	179313778	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.751000	0.04803	-0.697000	0.05092	-0.262000	0.10625	CTC		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		30	119	1	0	1.55811e-20	1	1.78963e-20	30	119		
DNAJC10	54431	broad.mit.edu	37	2	183582961	183582961	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:183582961G>A	ENST00000264065.7	+	3	563	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	DNAJC10_ENST00000537515.1_Missense_Mutation_p.E50K|DNAJC10_ENST00000469118.1_3'UTR	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	50	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGCAGTAGAGAAATAAGACA	0.338																																					Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1		NaN																	0				ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(148-150)GAA>AAA		DnaJ (Hsp40) homolog, subfamily C, member 10							78.0	82.0	81.0					2																	183582961		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183582961G>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.148G>A	2.37:g.183582961G>A	ENSP00000264065:p.Glu50Lys					DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.E50K|DNAJC10_uc010fro.1_RNA	p.E50K	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		3	563	+			50			J.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.148G>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658885	0.96734	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	T;T	0.77358	-1.09;-1.09	5.67	5.67	0.87782	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	D	0.89121	0.6625	M	0.87180	2.865	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.62740	0.839;0.906	D	0.90301	0.4330	10	0.66056	D	0.02	.	18.7591	0.91843	0.0:0.0:1.0:0.0	.	50;50	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	K	50	ENSP00000264065:E50K;ENSP00000441560:E50K	ENSP00000264065:E50K	E	+	1	0	DNAJC10	183291206	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.733000	0.98818	2.676000	0.91093	0.650000	0.86243	GAA		0.338	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2		NM_018981		18	69	0	0	0	1	0	18	69		
NCKAP1	10787	broad.mit.edu	37	2	183860508	183860508	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:183860508G>C	ENST00000361354.4	-	7	1034	c.662C>G	c.(661-663)gCt>gGt	p.A221G	NCKAP1_ENST00000360982.2_Missense_Mutation_p.A227G	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	221					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCACTGGTCAGCTGAAAGATT	0.368																																						uc002upc.2		NaN																	0				ovary(2)	2						c.(661-663)GCT>GGT		NCK-associated protein 1 isoform 1							115.0	116.0	115.0					2																	183860508		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183860508G>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.662C>G	2.37:g.183860508G>C	ENSP00000355348:p.Ala221Gly					NCKAP1_uc002upb.2_Missense_Mutation_p.A227G	p.A221G	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		7	1064	-			221					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.662C>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170676	0.94807	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.36520	1.25;1.25	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	M	0.70108	2.13	0.80722	D	1	P;P	0.41673	0.759;0.716	P;P	0.48815	0.591;0.455	T	0.50996	-0.8761	10	0.54805	T	0.06	-13.7875	20.1438	0.98071	0.0:0.0:1.0:0.0	.	221;227	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	G	221;227	ENSP00000355348:A221G;ENSP00000354251:A227G	ENSP00000354251:A227G	A	-	2	0	NCKAP1	183568753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.768000	0.95171	0.650000	0.86243	GCT		0.368	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2		NM_205842		12	69	0	0	0	1	0	12	69		
SLC40A1	30061	broad.mit.edu	37	2	190428686	190428686	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:190428686G>A	ENST00000261024.2	-	7	1452	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	342					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TCAAAATACTGAGGATGGAAC	0.478																																						uc002uqp.3		NaN																	0				ovary(1)	1						c.(1024-1026)CTC>CTT		solute carrier family 40 (iron-regulated							89.0	77.0	81.0					2																	190428686		2203	4300	6503	SO:0001819	synonymous_variant	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190428686G>A	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1026C>T	2.37:g.190428686G>A							p.L342L	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		7	1377	-			342			Helical; (Potential).		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	ENST00000261024.2	37	c.1026C>T	CCDS2299.1																																																																																				0.478	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2				7	48	0	0	0	1	0	7	48		
TMEFF2	23671	broad.mit.edu	37	2	193049159	193049159	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:193049159C>T	ENST00000272771.5	-	3	1517	c.333G>A	c.(331-333)caG>caA	p.Q111Q	TMEFF2_ENST00000392314.1_Silent_p.Q111Q|TMEFF2_ENST00000409056.3_Silent_p.Q111Q	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	111	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AACACTCATTCTGGTAGCTCT	0.473																																					Pancreas(50;1277 1381 28487 47072)	uc002utc.2		NaN																	0				lung(2)|pancreas(1)|breast(1)|skin(1)	5						c.(331-333)CAG>CAA		transmembrane protein with EGF-like and two							177.0	141.0	153.0					2																	193049159		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:193049159C>T	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.333G>A	2.37:g.193049159C>T						TMEFF2_uc002utd.1_Silent_p.Q111Q	p.Q111Q	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		3	727	-			111			Kazal-like 1.|Extracellular (Potential).		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.333G>A	CCDS2314.1																																																																																				0.473	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2		NM_016192		14	54	0	0	0	1	0	14	54		
DNAH7	56171	broad.mit.edu	37	2	196834710	196834710	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:196834710G>C	ENST00000312428.6	-	17	2267	c.2167C>G	c.(2167-2169)Caa>Gaa	p.Q723E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	723	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCAGTATTTGAGCCTTTTTT	0.328																																						uc002utj.3		NaN																	0				skin(10)|ovary(2)	12						c.(2167-2169)CAA>GAA		dynein, axonemal, heavy chain 7							89.0	80.0	83.0					2																	196834710		1819	4075	5894	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196834710G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2167C>G	2.37:g.196834710G>C	ENSP00000311273:p.Gln723Glu						p.Q723E	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			17	2268	-			723			Stem (By similarity).|Potential.		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2167C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	6.973	0.549586	0.13374	.	.	ENSG00000118997	ENST00000312428	T	0.20881	2.04	5.35	5.35	0.76521	.	0.068225	0.64402	D	0.000016	T	0.28830	0.0715	M	0.82323	2.585	0.80722	D	1	B	0.16396	0.017	B	0.17098	0.017	T	0.40664	-0.9551	10	0.05959	T	0.93	.	19.0162	0.92896	0.0:0.0:1.0:0.0	.	723	Q8WXX0	DYH7_HUMAN	E	723	ENSP00000311273:Q723E	ENSP00000311273:Q723E	Q	-	1	0	DNAH7	196542955	1.000000	0.71417	0.115000	0.21578	0.763000	0.43281	5.645000	0.67909	2.674000	0.91012	0.467000	0.42956	CAA		0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		7	57	0	0	0	1	0	7	57		
STK17B	9262	broad.mit.edu	37	2	197004437	197004437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:197004437G>C	ENST00000263955.4	-	7	1029	c.743C>G	c.(742-744)tCt>tGt	p.S248C	STK17B_ENST00000409228.1_Missense_Mutation_p.S248C	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATTAACTTGAGAAATATTGAG	0.333																																						uc002utk.2		NaN																	0				lung(2)	2						c.(742-744)TCT>TGT		serine/threonine kinase 17B							105.0	107.0	106.0					2																	197004437		2203	4296	6499	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197004437G>C	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.743C>G	2.37:g.197004437G>C	ENSP00000263955:p.Ser248Cys					STK17B_uc010fsh.2_Missense_Mutation_p.S248C	p.S248C	NM_004226	NP_004217	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		7	1067	-			248			Protein kinase.			Missense_Mutation	SNP	ENST00000263955.4	37	c.743C>G	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533696	0.85812	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.66638	-0.22;-0.22	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000252	T	0.66147	0.2760	L	0.35542	1.07	0.80722	D	1	P	0.47484	0.896	P	0.48166	0.569	T	0.70857	-0.4758	10	0.87932	D	0	.	18.7339	0.91746	0.0:0.0:1.0:0.0	.	248	O94768	ST17B_HUMAN	C	248	ENSP00000263955:S248C;ENSP00000386853:S248C	ENSP00000263955:S248C	S	-	2	0	STK17B	196712682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.042000	0.93793	2.646000	0.89796	0.591000	0.81541	TCT		0.333	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2				46	74	0	0	0	1	0	46	74		
ANKRD44	91526	broad.mit.edu	37	2	197865158	197865158	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:197865158C>G	ENST00000328737.2	-	23	2505	c.2429G>C	c.(2428-2430)aGa>aCa	p.R810T	ANKRD44_ENST00000450567.1_Missense_Mutation_p.R810T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R827T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R810T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	835										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTGTCATCTCTACAACTGAC	0.378																																						uc002uua.1		NaN																	0				ovary(4)|skin(1)	5						c.(2428-2430)AGA>ACA		ankyrin repeat domain 44							148.0	131.0	137.0					2																	197865158		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197865158C>G	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2429G>C	2.37:g.197865158C>G	ENSP00000331516:p.Arg810Thr					ANKRD44_uc002utz.3_Missense_Mutation_p.R542T	p.R810T	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		23	2506	-			835					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.2429G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.338|9.338	1.062158|1.062158	0.19987|0.19987	.|.	.|.	ENSG00000065413|ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207|ENST00000448801	T;T;T;T;T|.	0.65732|.	2.43;2.43;-0.17;-0.17;2.42|.	5.95|5.95	4.05|4.05	0.47172|0.47172	.|.	0.151766|.	0.64402|.	D|.	0.000014|.	T|.	0.24236|.	0.0587|.	L|L	0.31120|0.31120	0.905|0.905	0.26561|0.26561	N|N	0.973734|0.973734	B|.	0.24317|.	0.101|.	B|.	0.31495|.	0.131|.	T|.	0.18023|.	-1.0350|.	10|.	0.13853|.	T|.	0.58|.	.|.	1.5373|1.5373	0.02548|0.02548	0.1703:0.4679:0.1646:0.1972|0.1703:0.4679:0.1646:0.1972	.|.	853|.	Q8N8A2-2|.	.|.	T|Y	650;827;810;810;810|23	ENSP00000403415:R650T;ENSP00000282272:R827T;ENSP00000331516:R810T;ENSP00000402420:R810T;ENSP00000338794:R810T|.	ENSP00000282272:R827T|.	R|X	-|-	2|3	0|2	ANKRD44|ANKRD44	197573403|197573403	0.998000|0.998000	0.40836|0.40836	0.909000|0.909000	0.35828|0.35828	0.992000|0.992000	0.81027|0.81027	0.872000|0.872000	0.28037|0.28037	1.516000|1.516000	0.48900|0.48900	0.655000|0.655000	0.94253|0.94253	AGA|TAG		0.378	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1		NM_153697		7	51	0	0	0	1	0	7	51		
SF3B1	23451	broad.mit.edu	37	2	198257807	198257807	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198257807T>C	ENST00000335508.6	-	24	3736	c.3645A>G	c.(3643-3645)gtA>gtG	p.V1215V		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1215					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATTGGGCCATACATAGTTCA	0.448			Mis		myelodysplastic syndrome																																	uc002uue.2		NaN		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(3643-3645)GTA>GTG		splicing factor 3b, subunit 1 isoform 1							122.0	106.0	111.0					2																	198257807		2203	4300	6503	SO:0001819	synonymous_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198257807T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3645A>G	2.37:g.198257807T>C							p.V1215V	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		24	3693	-			1215					E9PCH3	Silent	SNP	ENST00000335508.6	37	c.3645A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268962	0.23221	.	.	ENSG00000115524	ENST00000424674	.	.	.	5.39	-3.27	0.05048	.	.	.	.	.	T	0.39759	0.1090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33420	-0.9869	4	.	.	.	.	2.7322	0.05230	0.2125:0.3999:0.1086:0.2789	.	.	.	.	C	231	.	.	Y	-	2	0	SF3B1	197966052	0.033000	0.19621	0.884000	0.34674	0.994000	0.84299	-0.899000	0.04101	-0.459000	0.07013	0.402000	0.26972	TAT		0.448	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2				21	54	0	0	0	1	0	21	54		
SF3B1	23451	broad.mit.edu	37	2	198274635	198274635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198274635C>T	ENST00000335508.6	-	7	854	c.763G>A	c.(763-765)Gat>Aat	p.D255N		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	255	Interaction with PPP1R8.|U2AF homology region; mediates interaction with RMB39.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGTGTAGGATCCCATATTTTT	0.572			Mis		myelodysplastic syndrome																																	uc002uue.2		NaN		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(763-765)GAT>AAT		splicing factor 3b, subunit 1 isoform 1							140.0	134.0	136.0					2																	198274635		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198274635C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.763G>A	2.37:g.198274635C>T	ENSP00000335321:p.Asp255Asn						p.D255N	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		7	811	-			255			Interaction with PPP1R8.		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.763G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	36	5.599777	0.96614	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.36	5.36	0.76844	.	0.050996	0.85682	D	0.000000	T	0.62877	0.2464	M	0.75615	2.305	0.80722	D	1	P	0.41041	0.736	B	0.33196	0.159	T	0.71337	-0.4623	9	0.72032	D	0.01	.	19.0839	0.93194	0.0:1.0:0.0:0.0	.	255	O75533	SF3B1_HUMAN	N	255	.	ENSP00000335321:D255N	D	-	1	0	SF3B1	197982880	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.588000	0.82629	2.502000	0.84385	0.655000	0.94253	GAT		0.572	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2				26	130	0	0	0	1	0	26	130		
HSPD1	3329	broad.mit.edu	37	2	198358196	198358196	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198358196C>A	ENST00000388968.3	-	7	988	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	HSPD1_ENST00000345042.2_Missense_Mutation_p.D241Y	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	241					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ACATAGGCATCCTGGAATTCA	0.343																																						uc002uui.2		NaN																	0					0						c.(721-723)GAT>TAT		chaperonin							41.0	42.0	42.0					2																	198358196		2203	4296	6499	SO:0001583	missense	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198358196C>A	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.721G>T	2.37:g.198358196C>A	ENSP00000373620:p.Asp241Tyr					HSPD1_uc002uuj.2_Missense_Mutation_p.D239Y|HSPD1_uc010zgx.1_Missense_Mutation_p.D232Y|HSPD1_uc010fsm.2_Missense_Mutation_p.D52Y|HSPD1_uc002uuk.2_Missense_Mutation_p.D241Y	p.D241Y	NM_002156	NP_002147	P10809	CH60_HUMAN	Epithelial(96;0.225)		7	858	-			241					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.721G>T	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934717	0.92458	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745	T;T	0.79653	-1.29;-1.29	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.94076	0.8101	H	0.98005	4.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.981;0.981;0.967	D	0.95667	0.8720	10	0.87932	D	0	-23.4749	20.0205	0.97499	0.0:1.0:0.0:0.0	.	232;241;241	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	Y	241;241;97	ENSP00000373620:D241Y;ENSP00000340019:D241Y	ENSP00000340019:D241Y	D	-	1	0	HSPD1	198066441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.687000	0.84139	2.801000	0.96364	0.650000	0.86243	GAT		0.343	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2		NM_002156		17	50	1	0	5.01169e-05	1	5.22743e-05	17	50		
NIF3L1	60491	broad.mit.edu	37	2	201761901	201761901	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:201761901C>G	ENST00000409020.1	+	5	1123	c.829C>G	c.(829-831)Cat>Gat	p.H277D	NIF3L1_ENST00000409357.1_Missense_Mutation_p.H277D|NIF3L1_ENST00000416651.1_Missense_Mutation_p.H277D|NIF3L1_ENST00000359683.4_Missense_Mutation_p.H250D|RNU6-762P_ENST00000517107.1_RNA|NIF3L1_ENST00000409588.1_Intron			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	277					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						AAAACTATCTCATATTCGCTT	0.423																																						uc002uwm.2		NaN																	0				skin(1)	1						c.(829-831)CAT>GAT		NIF3 NGG1 interacting factor 3-like 1 isoform 1							128.0	118.0	121.0					2																	201761901		1892	4117	6009	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201761901C>G	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.829C>G	2.37:g.201761901C>G	ENSP00000386394:p.His277Asp					NIF3L1_uc002uwl.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwn.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwo.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwp.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwq.2_Intron	p.H277D	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			5	920	+			277					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.829C>G	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922547	0.73213	.	.	ENSG00000196290	ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.01	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.69523	2.12	0.80722	D	1	P	0.39862	0.692	P	0.54238	0.746	T	0.57991	-0.7715	10	0.36615	T	0.2	-18.1604	15.4984	0.75677	0.0:0.9337:0.0:0.0663	.	277	Q9GZT8	NIF3L_HUMAN	D	277;277;250;277	ENSP00000400787:H277D;ENSP00000386394:H277D;ENSP00000352711:H250D;ENSP00000387315:H277D	ENSP00000352711:H250D	H	+	1	0	NIF3L1	201470146	0.948000	0.32251	0.733000	0.30861	0.963000	0.63663	2.164000	0.42387	1.554000	0.49487	-0.137000	0.14449	CAT		0.423	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1		NM_021824		27	104	0	0	0	1	0	27	104		
ALS2CR12	130540	broad.mit.edu	37	2	202154187	202154187	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:202154187G>A	ENST00000286190.5	-	13	1250	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.H379Y|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.H402Y|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.H379Y			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	402					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CACTTCAGATGAATGTTCTCT	0.433																																						uc010ftg.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1204-1206)CAT>TAT		amyotrophic lateral sclerosis 2 (juvenile)							141.0	139.0	140.0					2																	202154187		2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202154187G>A	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.1204C>T	2.37:g.202154187G>A	ENSP00000286190:p.His402Tyr					ALS2CR12_uc002uya.3_Missense_Mutation_p.H379Y|ALS2CR12_uc010fth.2_RNA	p.H402Y	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN			14	1648	-			402			Potential.		G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.1204C>T	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	G	1.658	-0.512298	0.04200	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.7	-5.37	0.02681	.	1.535670	0.03708	N	0.249666	T	0.22322	0.0538	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.08066	-1.0740	10	0.21014	T	0.42	3.3358	0.4672	0.00526	0.2293:0.2124:0.2918:0.2666	.	402;379	Q96Q35;G5E9S3	AL2SB_HUMAN;.	Y	402;402;379;379	ENSP00000286190:H402Y;ENSP00000385098:H402Y;ENSP00000376086:H379Y;ENSP00000412073:H379Y	ENSP00000286190:H402Y	H	-	1	0	ALS2CR12	201862432	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.024000	0.12435	-0.891000	0.03940	-1.108000	0.02087	CAT		0.433	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1		NM_139163		21	67	0	0	0	1	0	21	67		
CDK15	65061	broad.mit.edu	37	2	202700471	202700471	+	Missense_Mutation	SNP	C	C	G	rs61383268		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:202700471C>G	ENST00000374598.4	+	8	836	c.836C>G	c.(835-837)tCt>tGt	p.S279C	CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000410091.3_Missense_Mutation_p.S228C|CDK15_ENST00000260967.2_Missense_Mutation_p.S228C|CDK15_ENST00000434439.1_Missense_Mutation_p.S279C|CDK15_ENST00000450471.2_Missense_Mutation_p.S279C			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAATATTCCTCTGAGCTGGAC	0.473																																						uc002uyt.2		NaN																	0				breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.(835-837)TCT>TGT		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						70.0	69.0	69.0					2																	202700471		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202700471C>G	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.836C>G	2.37:g.202700471C>G	ENSP00000363726:p.Ser279Cys					CDK15_uc010ftm.2_Missense_Mutation_p.S144C|CDK15_uc002uys.2_Missense_Mutation_p.S228C|CDK15_uc010ftn.1_Missense_Mutation_p.S228C|CDK15_uc010fto.1_Missense_Mutation_p.S258C	p.S279C	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			8	885	+			279			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.836C>G		.	.	.	.	.	.	.	.	.	.	C	20.6	4.024468	0.75390	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.62	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.128131	0.53938	D	0.000052	T	0.71779	0.3380	L	0.28014	0.82	0.43750	D	0.996258	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.974;0.956	T	0.75071	-0.3447	10	0.59425	D	0.04	-11.1613	14.5866	0.68328	0.0:0.9297:0.0:0.0703	.	258;279;279	Q96Q40-2;Q96Q40;F8W6H8	.;CDK15_HUMAN;.	C	228;228;279;279;279	ENSP00000386901:S228C;ENSP00000260967:S228C;ENSP00000406472:S279C;ENSP00000412775:S279C;ENSP00000363726:S279C	ENSP00000260967:S228C	S	+	2	0	CDK15	202408716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.574000	0.60900	1.506000	0.48736	0.557000	0.71058	TCT		0.473	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2				17	47	0	0	0	1	0	17	47		
CARF	79800	broad.mit.edu	37	2	203831746	203831746	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:203831746A>G	ENST00000402905.3	+	9	1199	c.878A>G	c.(877-879)aAa>aGa	p.K293R	CARF_ENST00000320443.8_Missense_Mutation_p.K293R|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.K217R|CARF_ENST00000438828.2_Missense_Mutation_p.K293R|CARF_ENST00000545253.1_Missense_Mutation_p.K205R|CARF_ENST00000456821.2_3'UTR|CARF_ENST00000545262.1_Missense_Mutation_p.K217R|CARF_ENST00000414439.1_Missense_Mutation_p.K191R	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	293					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCAAGAAGAAAAGGTTTCCAG	0.408																																						uc002uzo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(877-879)AAA>AGA		amyotrophic lateral sclerosis 2 (juvenile)							159.0	160.0	160.0					2																	203831746		1852	4096	5948	SO:0001583	missense	79800							g.chr2:203831746A>G	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.878A>G	2.37:g.203831746A>G	ENSP00000384006:p.Lys293Arg					ALS2CR8_uc010zhy.1_3'UTR|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.K217R|ALS2CR8_uc010zib.1_Missense_Mutation_p.K217R|ALS2CR8_uc010zic.1_Missense_Mutation_p.K205R|ALS2CR8_uc002uzp.2_Missense_Mutation_p.K293R	p.K293R	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			9	1158	+			293					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.878A>G	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389774	0.61956	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.92	3.52	0.40303	.	0.122762	0.52532	N	0.000063	T	0.45498	0.1345	L	0.34521	1.04	0.40231	D	0.97784	B;B;B	0.27416	0.086;0.178;0.178	B;B;B	0.32289	0.06;0.143;0.143	T	0.39663	-0.9603	9	0.62326	D	0.03	-21.8456	7.4105	0.27016	0.803:0.0:0.069:0.128	.	205;217;293	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	R	293;191;217;205;217;293;293	.	ENSP00000316224:K293R	K	+	2	0	ALS2CR8	203539991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.482000	0.66833	0.484000	0.27630	0.529000	0.55759	AAA		0.408	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5		NM_001104586		23	122	0	0	0	1	0	23	122		
ZDBF2	57683	broad.mit.edu	37	2	207169584	207169584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:207169584C>T	ENST00000374423.3	+	5	718	c.332C>T	c.(331-333)tCa>tTa	p.S111L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	111							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCCGAGGTTTCAGAACCTATT	0.448																																						uc002vbp.2		NaN																	0				ovary(3)	3						c.(331-333)TCA>TTA		zinc finger, DBF-type containing 2							76.0	73.0	74.0					2																	207169584		1943	4139	6082	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169584C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.332C>T	2.37:g.207169584C>T	ENSP00000363545:p.Ser111Leu						p.S111L	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	582	+			111					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.332C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570115	0.28003	.	.	ENSG00000204186	ENST00000374423	T	0.18502	2.21	5.0	-1.52	0.08637	.	1.162920	0.06733	N	0.776956	T	0.12433	0.0302	L	0.43152	1.355	0.09310	N	1	B	0.22800	0.075	B	0.17098	0.017	T	0.39143	-0.9628	10	0.66056	D	0.02	.	0.6113	0.00762	0.231:0.3136:0.2105:0.2449	.	111	Q9HCK1	ZDBF2_HUMAN	L	111	ENSP00000363545:S111L	ENSP00000363545:S111L	S	+	2	0	ZDBF2	206877829	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.779000	0.04659	-0.542000	0.06249	-0.894000	0.02916	TCA		0.448	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1		NM_020923		19	28	0	0	0	1	0	19	28		
ARPC2	10109	broad.mit.edu	37	2	219114628	219114628	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:219114628G>C	ENST00000295685.10	+	9	1123	c.862G>C	c.(862-864)Gaa>Caa	p.E288Q	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.E288Q	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	288					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CGAGAAAAAAGAAATGAAAAC	0.542																																						uc002vhd.2		NaN																	0				ovary(1)	1						c.(862-864)GAA>CAA		actin related protein 2/3 complex subunit 2							94.0	85.0	88.0					2																	219114628		2203	4300	6503	SO:0001583	missense	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219114628G>C	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.862G>C	2.37:g.219114628G>C	ENSP00000295685:p.Glu288Gln					ARPC2_uc002vhe.2_Missense_Mutation_p.E288Q|ARPC2_uc002vhf.2_Missense_Mutation_p.E174Q	p.E288Q	NM_152862	NP_690601	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	10	974	+		Renal(207;0.0474)	288					Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.862G>C	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627276	0.96671	.	.	ENSG00000163466	ENST00000315717;ENST00000295685;ENST00000456575	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	M	0.87097	2.86	0.80722	D	1	P	0.36647	0.563	B	0.32980	0.156	T	0.77590	-0.2531	9	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	288	O15144	ARPC2_HUMAN	Q	288;288;103	.	ENSP00000295685:E288Q	E	+	1	0	ARPC2	218822873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GAA		0.542	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2		NM_005731		4	15	0	0	0	1	0	4	15		
DOCK10	55619	broad.mit.edu	37	2	225652012	225652012	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:225652012C>G	ENST00000258390.7	-	49	5588	c.5521G>C	c.(5521-5523)Gag>Cag	p.E1841Q	DOCK10_ENST00000409592.3_Missense_Mutation_p.E1835Q	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1841	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CGTTGTTTCTCAAAGACAGCA	0.368																																						uc010fwz.1		NaN																	0				ovary(2)	2						c.(5521-5523)GAG>CAG		dedicator of cytokinesis 10							150.0	143.0	145.0					2																	225652012		1926	4142	6068	SO:0001583	missense	55619						GTP binding	g.chr2:225652012C>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5521G>C	2.37:g.225652012C>G	ENSP00000258390:p.Glu1841Gln					DOCK10_uc002vob.2_Missense_Mutation_p.E1835Q|DOCK10_uc002voa.2_Missense_Mutation_p.E497Q|DOCK10_uc002voc.2_Missense_Mutation_p.E662Q	p.E1841Q	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	49	5760	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1841			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5521G>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036548	0.93630	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.28069	1.63;1.63	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.83603	2.65	0.54753	D	0.999981	P;D;D;D	0.71674	0.866;0.998;0.976;0.998	P;D;P;P	0.71414	0.447;0.973;0.904;0.882	T	0.65459	-0.6163	10	0.87932	D	0	.	18.6214	0.91322	0.0:1.0:0.0:0.0	.	1841;662;1835;503	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	Q	1835;1841;346	ENSP00000386694:E1835Q;ENSP00000258390:E1841Q	ENSP00000258390:E1841Q	E	-	1	0	DOCK10	225360256	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.642000	0.89623	0.650000	0.86243	GAG		0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1				20	110	0	0	0	1	0	20	110		
IRS1	3667	broad.mit.edu	37	2	227661897	227661897	+	Missense_Mutation	SNP	G	G	A	rs544750977	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:227661897G>A	ENST00000305123.5	-	1	2578	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	520					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTTCGGAACCGATTATCCAGA	0.592											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.3		NaN																	0				lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(1558-1560)CGG>TGG		insulin receptor substrate 1							58.0	62.0	60.0					2																	227661897		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661897G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1558C>T	2.37:g.227661897G>A	ENSP00000304895:p.Arg520Trp		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R520W	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1610	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	520						Missense_Mutation	SNP	ENST00000305123.5	37	c.1558C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896417	0.52121	.	.	ENSG00000169047	ENST00000305123	T	0.58060	0.36	5.37	3.42	0.39159	.	0.535980	0.17692	N	0.165229	T	0.34135	0.0887	N	0.08118	0	0.31106	N	0.710505	D	0.67145	0.996	P	0.46629	0.522	T	0.34378	-0.9831	10	0.66056	D	0.02	-18.9476	8.2875	0.31937	0.0:0.3791:0.4832:0.1377	.	520	P35568	IRS1_HUMAN	W	520	ENSP00000304895:R520W	ENSP00000304895:R520W	R	-	1	2	IRS1	227370141	0.294000	0.24380	0.914000	0.36105	0.798000	0.45092	1.447000	0.35101	2.511000	0.84671	0.555000	0.69702	CGG		0.592	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3		NM_005544		12	65	0	0	0	1	0	12	65		
MFF	56947	broad.mit.edu	37	2	228220436	228220436	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:228220436G>C	ENST00000353339.3	+	10	1297	c.856G>C	c.(856-858)Gat>Cat	p.D286H	MFF_ENST00000304593.9_Missense_Mutation_p.D235H|MFF_ENST00000409565.1_Missense_Mutation_p.D162H|MFF_ENST00000524634.1_Missense_Mutation_p.D33H|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000337110.7_Missense_Mutation_p.D187H|MFF_ENST00000409616.1_Missense_Mutation_p.D182H|MFF_ENST00000354503.6_Missense_Mutation_p.D162H|MFF_ENST00000349901.7_Missense_Mutation_p.D182H|MFF_ENST00000392059.1_Missense_Mutation_p.D286H	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	286					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGGAACGTCAGATGACCTGAC	0.323																																						uc002vos.2		NaN																	0				large_intestine(1)	1						c.(856-858)GAT>CAT		mitochondrial fission factor							164.0	165.0	164.0					2																	228220436		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228220436G>C	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.856G>C	2.37:g.228220436G>C	ENSP00000302037:p.Asp286His					MFF_uc002vot.2_Missense_Mutation_p.D235H|MFF_uc002vou.2_Missense_Mutation_p.D208H|MFF_uc002vov.2_Missense_Mutation_p.D182H|MFF_uc002vow.2_Missense_Mutation_p.D187H|MFF_uc002vox.2_Missense_Mutation_p.D162H|MFF_uc002voy.2_Missense_Mutation_p.D286H|MFF_uc002voz.2_Missense_Mutation_p.D162H|MFF_uc002vpa.2_Missense_Mutation_p.D74H	p.D286H	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN			10	1274	+			286			Cytoplasmic (Potential).		Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.856G>C	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109302	0.94292	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000409616;ENST00000337110;ENST00000534203;ENST00000524634;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.38077	1.16;1.16	6.08	6.08	0.98989	.	0.387553	0.32608	N	0.005871	T	0.54143	0.1840	L	0.58101	1.795	0.80722	D	1	P;P;P;P;P	0.47910	0.858;0.699;0.885;0.489;0.902	P;P;P;B;P	0.54499	0.495;0.754;0.651;0.358;0.721	T	0.50874	-0.8776	10	0.87932	D	0	-26.7628	20.6721	0.99693	0.0:0.0:1.0:0.0	.	162;187;182;235;286	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;Q9GZY8-2;Q9GZY8	.;.;.;.;MFF_HUMAN	H	235;286;162;162;182;187;58;33;182;286;98	ENSP00000302037:D286H;ENSP00000375912:D286H	ENSP00000304898:D235H	D	+	1	0	MFF	227928680	1.000000	0.71417	0.939000	0.37840	0.994000	0.84299	8.721000	0.91446	2.894000	0.99253	0.591000	0.81541	GAT		0.323	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2		NM_020194		65	104	0	0	0	1	0	65	104		
TRIP12	9320	broad.mit.edu	37	2	230723948	230723948	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:230723948C>A	ENST00000283943.5	-	3	619	c.441G>T	c.(439-441)caG>caT	p.Q147H	TRIP12_ENST00000389044.4_Missense_Mutation_p.Q189H|TRIP12_ENST00000543084.1_Missense_Mutation_p.Q189H|TRIP12_ENST00000409677.1_Missense_Mutation_p.Q189H|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	147					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTTCTTTTCTGACTCCGTG	0.488																																						uc002vpw.1		NaN																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(439-441)CAG>CAT		thyroid hormone receptor interactor 12							110.0	113.0	112.0					2																	230723948		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230723948C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.441G>T	2.37:g.230723948C>A	ENSP00000283943:p.Gln147His					TRIP12_uc002vpx.1_Missense_Mutation_p.Q189H|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.Q147H	p.Q147H	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	550	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	147					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.441G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884563	0.51908	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000453485;ENST00000435716;ENST00000428959;ENST00000430954	T;T	0.50813	0.73;0.73	5.71	2.98	0.34508	.	0.055337	0.85682	D	0.000000	T	0.29783	0.0744	N	0.19112	0.55	0.49687	D	0.999816	P;P;P	0.39624	0.679;0.681;0.454	B;B;B	0.38500	0.275;0.185;0.188	T	0.05937	-1.0855	10	0.59425	D	0.04	.	6.1981	0.20561	0.1294:0.667:0.0:0.2037	.	147;189;147	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	H	147;189;189;189;17;147;147;189	ENSP00000283943:Q147H;ENSP00000373696:Q189H	ENSP00000283943:Q147H	Q	-	3	2	TRIP12	230432192	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.392000	0.34486	0.366000	0.24427	-0.262000	0.10625	CAG		0.488	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3		NM_004238		27	97	1	0	4.22769e-11	1	4.7099e-11	27	97		
ARMC9	80210	broad.mit.edu	37	2	232146826	232146826	+	Missense_Mutation	SNP	C	C	T	rs201558091		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:232146826C>T	ENST00000349938.4	+	17	1800	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	536						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCCATCCATTCGTGAGGAAGC	0.428																																						uc002vrq.3		NaN																	0				ovary(1)	1						c.(1606-1608)CGT>TGT		armadillo repeat containing 9							148.0	143.0	144.0					2																	232146826		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232146826C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1606C>T	2.37:g.232146826C>T	ENSP00000258417:p.Arg536Cys					ARMC9_uc002vrp.3_Missense_Mutation_p.R536C|ARMC9_uc002vrr.1_RNA	p.R536C	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	17	1718	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	536					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.1606C>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466422	0.63625	.	.	ENSG00000135931	ENST00000349938;ENST00000359743	T	0.52983	0.64	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.060448	0.64402	D	0.000002	T	0.69251	0.3090	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71609	-0.4541	10	0.87932	D	0	-8.4151	18.4335	0.90634	0.0:1.0:0.0:0.0	.	536	Q7Z3E5	ARMC9_HUMAN	C	536	ENSP00000258417:R536C	ENSP00000258417:R536C	R	+	1	0	ARMC9	231855070	0.999000	0.42202	0.140000	0.22221	0.220000	0.24768	4.274000	0.58921	2.716000	0.92895	0.655000	0.94253	CGT		0.428	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3		NM_025139		23	76	0	0	0	1	0	23	76		
CHRND	1144	broad.mit.edu	37	2	233398643	233398643	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233398643C>G	ENST00000258385.3	+	10	1082	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	CHRND_ENST00000457943.2_Silent_p.L156L|CHRND_ENST00000543200.1_Silent_p.L335L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	350					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	GGCCCCAGCTCTTCCTGGAGA	0.602																																						uc002vsw.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1048-1050)CTC>CTG		nicotinic acetylcholine receptor delta							51.0	60.0	57.0					2																	233398643		2203	4300	6503	SO:0001819	synonymous_variant	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233398643C>G	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1050C>G	2.37:g.233398643C>G						CHRND_uc010zmg.1_Silent_p.L335L|CHRND_uc010fyc.2_Silent_p.L223L|CHRND_uc010zmh.1_Silent_p.L156L	p.L350L	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	10	1054	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	350			Cytoplasmic (Potential).		A8K661|B4DT92|Q52LH4	Silent	SNP	ENST00000258385.3	37	c.1050C>G	CCDS2494.1																																																																																				0.602	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2				17	66	0	0	0	1	0	17	66		
CHRND	1144	broad.mit.edu	37	2	233399028	233399028	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233399028G>A	ENST00000258385.3	+	11	1379	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	CHRND_ENST00000457943.2_Missense_Mutation_p.M255I|CHRND_ENST00000543200.1_Missense_Mutation_p.M434I	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	449					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TTAACCACATGAGGGACCAGA	0.502																																						uc002vsw.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1345-1347)ATG>ATA		nicotinic acetylcholine receptor delta							74.0	73.0	74.0					2																	233399028		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233399028G>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1347G>A	2.37:g.233399028G>A	ENSP00000258385:p.Met449Ile					CHRND_uc010zmg.1_Missense_Mutation_p.M434I|CHRND_uc010fyc.2_Missense_Mutation_p.M322I|CHRND_uc010zmh.1_Missense_Mutation_p.M255I	p.M449I	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	11	1351	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	449			Cytoplasmic (Potential).		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.1347G>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	g	13.72	2.319985	0.41096	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.85088	-1.94;-1.94;-1.94	5.19	4.32	0.51571	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.081704	0.85682	D	0.000000	T	0.81074	0.4747	L	0.39085	1.19	0.50467	D	0.999871	B;B;B;B	0.26147	0.143;0.076;0.028;0.028	B;B;B;B	0.35607	0.206;0.038;0.011;0.011	T	0.75124	-0.3428	10	0.24483	T	0.36	.	14.0141	0.64515	0.0731:0.0:0.9269:0.0	.	255;434;449;449	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	I	434;449;255	ENSP00000438380:M434I;ENSP00000258385:M449I;ENSP00000391055:M255I	ENSP00000258385:M449I	M	+	3	0	CHRND	233107272	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	4.577000	0.60922	1.209000	0.43321	-0.378000	0.06908	ATG		0.502	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2				12	39	0	0	0	1	0	12	39		
INPP5D	3635	broad.mit.edu	37	2	233986856	233986856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233986856G>A	ENST00000359570.5	+	3	238	c.238G>A	c.(238-240)Gac>Aac	p.D80N	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.D80N			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	80	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CACCAAGCTGGACCAGCTCAT	0.522																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(238-240)GAC>AAC		SH2 containing inositol phosphatase isoform a							97.0	100.0	99.0					2																	233986856		2033	4184	6217	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233986856G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.238G>A	2.37:g.233986856G>A	ENSP00000352575:p.Asp80Asn					INPP5D_uc010zmp.1_Missense_Mutation_p.D80N	p.D80N	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	3	391	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	80			SH2.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.238G>A		.	.	.	.	.	.	.	.	.	.	g	14.38	2.517491	0.44763	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.52	5.52	0.82312	SH2 motif (5);	0.670992	0.16395	N	0.216316	D	0.88930	0.6571	.	.	.	0.31460	N	0.669645	B;B	0.32753	0.331;0.383	B;B	0.44044	0.408;0.439	D	0.86477	0.1789	9	0.24483	T	0.36	.	16.4165	0.83743	0.0:0.0:1.0:0.0	.	80;80	Q92835-2;Q92835	.;SHIP1_HUMAN	N	80	ENSP00000409018:D80N;ENSP00000415253:D80N;ENSP00000352575:D80N;ENSP00000441010:D80N	ENSP00000352575:D80N	D	+	1	0	INPP5D	233695100	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.011000	0.49567	2.593000	0.87608	0.645000	0.84053	GAC		0.522	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001017915		12	81	0	0	0	1	0	12	81		
COL6A3	1293	broad.mit.edu	37	2	238280791	238280791	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:238280791G>C	ENST00000295550.4	-	9	4321	c.3869C>G	c.(3868-3870)tCc>tGc	p.S1290C	COL6A3_ENST00000392003.2_Missense_Mutation_p.S883C|COL6A3_ENST00000472056.1_Missense_Mutation_p.S683C|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1089C|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1084C|COL6A3_ENST00000392004.3_Missense_Mutation_p.S1084C|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1084C|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1090C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1290	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATCCTTGCTGGAATGGGCGTT	0.607																																						uc002vwl.2		NaN																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3868-3870)TCC>TGC		alpha 3 type VI collagen isoform 1 precursor							63.0	55.0	58.0					2																	238280791		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280791G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3869C>G	2.37:g.238280791G>C	ENSP00000295550:p.Ser1290Cys					COL6A3_uc002vwo.2_Missense_Mutation_p.S1084C|COL6A3_uc010znj.1_Missense_Mutation_p.S683C|COL6A3_uc002vwq.2_Missense_Mutation_p.S1084C|COL6A3_uc002vwr.2_Missense_Mutation_p.S883C	p.S1290C	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4154	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1290			VWFA 7.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3869C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253436	0.39797	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.73	2.84	0.33178	von Willebrand factor, type A (3);	0.515185	0.17684	N	0.165538	D	0.91660	0.7364	M	0.87547	2.89	0.41241	D	0.986644	D;D;D;D;D	0.89917	0.999;0.996;0.998;1.0;0.995	D;D;D;D;P	0.79108	0.992;0.964;0.964;0.987;0.905	D	0.90250	0.4293	10	0.56958	D	0.05	.	8.4234	0.32714	0.1416:0.1278:0.7306:0.0	.	683;883;1084;1084;1290	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	C	1290;1089;1084;683;1084;1090;1084;883	ENSP00000295550:S1290C;ENSP00000315609:S1089C;ENSP00000315873:S1084C;ENSP00000418285:S683C;ENSP00000386844:S1084C;ENSP00000295546:S1090C;ENSP00000375861:S1084C;ENSP00000375860:S883C	ENSP00000295550:S1290C	S	-	2	0	COL6A3	237945530	1.000000	0.71417	0.112000	0.21494	0.125000	0.20455	2.549000	0.45803	0.759000	0.33084	0.655000	0.94253	TCC		0.607	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		15	30	0	0	0	1	0	15	30		
NDUFA10	4705	broad.mit.edu	37	2	240958025	240958025	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:240958025G>A	ENST00000252711.2	-	4	592	c.492C>T	c.(490-492)ttC>ttT	p.F164F	NDUFA10_ENST00000407129.3_Silent_p.F164F|NDUFA10_ENST00000307300.4_Silent_p.F164F|NDUFA10_ENST00000404554.1_Silent_p.F164F	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	164					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		CAAAGTCACTGAAGATGGAGC	0.473																																						uc002vyn.2		NaN																	0				central_nervous_system(1)	1						c.(490-492)TTC>TTT		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						133.0	104.0	114.0					2																	240958025		2203	4300	6503	SO:0001819	synonymous_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240958025G>A	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.492C>T	2.37:g.240958025G>A						NDUFA10_uc010fzc.1_Silent_p.F164F|NDUFA10_uc002vyo.1_Silent_p.F164F|NDUFA10_uc002vyp.2_Silent_p.F164F	p.F164F	NM_004544	NP_004535	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	4	572	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	164					Q8WXC9	Silent	SNP	ENST00000252711.2	37	c.492C>T	CCDS2531.1																																																																																				0.473	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2		NM_004544		5	39	0	0	0	1	0	5	39		
ANO7	50636	broad.mit.edu	37	2	242157737	242157737	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242157737C>T	ENST00000274979.8	+	21	2527	c.2424C>T	c.(2422-2424)ctC>ctT	p.L808L	ANO7_ENST00000402430.3_Silent_p.L807L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	808					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCGGCTTCCTCAACTTCACGC	0.746																																						uc002wax.2		NaN																	0				pancreas(2)|central_nervous_system(1)	3						c.(2422-2424)CTC>CTT		transmembrane protein 16G isoform NGEP long							7.0	8.0	8.0					2																	242157737		2149	4246	6395	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242157737C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2424C>T	2.37:g.242157737C>T							p.L808L	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			21	2527	+			808			Extracellular (Potential).		Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.2424C>T	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	5.429	0.264252	0.10294	.	.	ENSG00000146205	ENST00000451047	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.8501	0.05555	0.0:0.4646:0.2627:0.2726	.	.	.	.	X	121	.	.	Q	+	1	0	ANO7	241806410	0.748000	0.28294	0.943000	0.38184	0.184000	0.23303	0.016000	0.13377	1.146000	0.42352	0.305000	0.20034	CAA		0.746	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1		NM_001001891		3	4	0	0	0	1	0	3	4		
HDLBP	3069	broad.mit.edu	37	2	242176173	242176173	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242176173C>G	ENST00000391975.1	-	21	2988	c.2761G>C	c.(2761-2763)Gag>Cag	p.E921Q	HDLBP_ENST00000427183.2_Missense_Mutation_p.E888Q|HDLBP_ENST00000391976.2_Missense_Mutation_p.E921Q|HDLBP_ENST00000310931.4_Missense_Mutation_p.E921Q	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	921	KH 11. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ACAACTGGCTCTGTACTGTGA	0.537																																						uc002waz.2		NaN																	0				breast(3)|skin(1)	4						c.(2761-2763)GAG>CAG		high density lipoprotein binding protein							91.0	84.0	86.0					2																	242176173		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242176173C>G		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2761G>C	2.37:g.242176173C>G	ENSP00000375836:p.Glu921Gln					HDLBP_uc002wba.2_Missense_Mutation_p.E921Q|HDLBP_uc002wbb.2_Missense_Mutation_p.E873Q	p.E921Q	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	21	2989	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	921			KH 11.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2761G>C	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.11|15.11	2.736983|2.736983	0.49045|0.49045	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	T;T;T;T|.	0.19394|.	2.15;2.15;2.15;2.16|.	5.59|5.59	4.72|4.72	0.59763|0.59763	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.147385|.	0.64402|.	D|.	0.000012|.	T|T	0.72550|0.72550	0.3474|0.3474	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.63880|.	0.993;0.99|.	D;P|.	0.66497|.	0.944;0.891|.	T|T	0.72763|0.72763	-0.4195|-0.4195	10|5	0.21540|.	T|.	0.41|.	-18.8478|-18.8478	14.3208|14.3208	0.66484|0.66484	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	888;921|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	Q|T	921;921;921;888|729	ENSP00000375836:E921Q;ENSP00000375837:E921Q;ENSP00000312042:E921Q;ENSP00000399139:E888Q|.	ENSP00000312042:E921Q|.	E|R	-|-	1|2	0|0	HDLBP|HDLBP	241824846|241824846	1.000000|1.000000	0.71417|0.71417	0.834000|0.834000	0.33040|0.33040	0.015000|0.015000	0.08874|0.08874	7.095000|7.095000	0.76952|0.76952	1.366000|1.366000	0.46076|0.46076	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.537	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5		NM_203346		26	51	0	0	0	1	0	26	51		
RTP5	285093	broad.mit.edu	37	2	242815144	242815144	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242815144C>T	ENST00000343216.3	+	2	1465	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F		NM_173821.2	NP_776182.2																					TCGCAGTCTTCGATGTCATAA	0.632																																						uc010fzu.1		NaN																	0				ovary(1)	1						c.(1435-1437)TTC>TTT		hypothetical protein LOC285093							68.0	78.0	75.0					2																	242815144		2075	4192	6267	SO:0001819	synonymous_variant	285093					integral to membrane		g.chr2:242815144C>T																												ENST00000343216.3:c.1437C>T	2.37:g.242815144C>T							p.F479F	NM_173821	NP_776182	Q14D33	CB085_HUMAN			2	1460	+			479						Silent	SNP	ENST00000343216.3	37	c.1437C>T	CCDS42843.1																																																																																				0.632	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1				15	73	0	0	0	1	0	15	73		
JAG1	182	broad.mit.edu	37	20	10653409	10653409	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:10653409G>A	ENST00000254958.5	-	2	842	c.327C>T	c.(325-327)ctC>ctT	p.L109L	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	109					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCTGGCCTTGAGGTTGAAGG	0.662									Alagille Syndrome																													uc002wnw.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(325-327)CTC>CTT		jagged 1 precursor							51.0	48.0	49.0					20																	10653409		2203	4299	6502	SO:0001819	synonymous_variant	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10653409G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.327C>T	20.37:g.10653409G>A							p.L109L	NM_000214	NP_000205	P78504	JAG1_HUMAN			2	843	-			109			Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.327C>T	CCDS13112.1																																																																																				0.662	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000214		11	20	0	0	0	1	0	11	20		
RBBP9	10741	broad.mit.edu	37	20	18477724	18477724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:18477724C>T	ENST00000337227.4	-	1	163	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	30					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						TTCTCCAGCTCCTTTTTCACC	0.612																																						uc002wqy.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(88-90)GAG>AAG		retinoblastoma binding protein 9							61.0	50.0	54.0					20																	18477724		2203	4300	6503	SO:0001583	missense	10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18477724C>T	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.88G>A	20.37:g.18477724C>T	ENSP00000336866:p.Glu30Lys						p.E30K	NM_006606	NP_006597	O75884	RBBP9_HUMAN			1	164	-			30					D3DW31|Q5JPH9|Q9H1D8	Missense_Mutation	SNP	ENST00000337227.4	37	c.88G>A	CCDS13136.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.835110	0.32421	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	5.01	-4.03	0.04021	.	0.984926	0.08275	N	0.970877	T	0.24967	0.0606	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.29852	-0.9998	9	0.15952	T	0.53	0.7981	6.0664	0.19866	0.0:0.1916:0.4253:0.3831	.	30	O75884	RBBP9_HUMAN	K	30	.	ENSP00000336866:E30K	E	-	1	0	RBBP9	18425724	0.000000	0.05858	0.004000	0.12327	0.960000	0.62799	-1.564000	0.02152	-0.544000	0.06232	-0.211000	0.12701	GAG		0.612	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1		NM_006606		4	32	0	0	0	1	0	4	32		
CFAP61	26074	broad.mit.edu	37	20	20177348	20177348	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:20177348G>T	ENST00000245957.5	+	16	1801	c.1725G>T	c.(1723-1725)ctG>ctT	p.L575L	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		575										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGTTCTTTCTGAAGGAGATCC	0.468																																						uc002wru.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(1723-1725)CTG>CTT		hypothetical protein LOC26074							132.0	120.0	124.0					20																	20177348		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20177348G>T																												ENST00000245957.5:c.1725G>T	20.37:g.20177348G>T						C20orf26_uc010zse.1_Silent_p.L555L	p.L575L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1801	+			575					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.1725G>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351223	0.24512	.	.	ENSG00000089101	ENST00000431753	.	.	.	5.68	-3.93	0.04143	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3287	0.02130	0.2649:0.2727:0.2931:0.1693	.	.	.	.	L	115	.	.	X	+	2	2	C20orf26	20125348	0.391000	0.25221	0.980000	0.43619	0.994000	0.84299	-0.256000	0.08757	-0.462000	0.06984	0.655000	0.94253	TGA		0.468	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3				27	47	1	0	2.79863e-10	1	3.10412e-10	27	47		
ASXL1	171023	broad.mit.edu	37	20	31021535	31021535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:31021535C>T	ENST00000375687.4	+	12	1958	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.Q507*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	512	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TAGCCTGCCTCAGGAAACTGT	0.547			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NaN		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1534-1536)CAG>TAG		additional sex combs like 1 isoform 1							132.0	143.0	139.0					20																	31021535		2203	4300	6503	SO:0001587	stop_gained	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021535C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1534C>T	20.37:g.31021535C>T	ENSP00000364839:p.Gln512*					ASXL1_uc010geb.2_Nonsense_Mutation_p.Q403*	p.Q512*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	1960	+			512					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	c.1534C>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592026	0.96590	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.91	4.91	0.64330	.	0.183297	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	0.2314	18.6696	0.91506	0.0:1.0:0.0:0.0	.	.	.	.	X	512;512;512;451;507	.	ENSP00000305119:Q507X	Q	+	1	0	ASXL1	30485196	1.000000	0.71417	0.987000	0.45799	0.008000	0.06430	5.903000	0.69877	2.723000	0.93209	0.655000	0.94253	CAG		0.547	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		34	167	0	0	0	1	0	34	167		
ASXL1	171023	broad.mit.edu	37	20	31023784	31023784	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:31023784G>C	ENST00000375687.4	+	13	3693	c.3269G>C	c.(3268-3270)aGa>aCa	p.R1090T	ASXL1_ENST00000306058.5_Missense_Mutation_p.R1085T	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1090					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TACCAGCCAAGAGCCGTGTGC	0.572			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NaN		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(3268-3270)AGA>ACA		additional sex combs like 1 isoform 1							90.0	79.0	83.0					20																	31023784		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023784G>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3269G>C	20.37:g.31023784G>C	ENSP00000364839:p.Arg1090Thr					ASXL1_uc010geb.2_Missense_Mutation_p.R981T	p.R1090T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	3695	+			1090					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3269G>C	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249847	0.22880	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.14766	2.48;2.48	4.32	2.27	0.28462	.	0.308847	0.34156	N	0.004216	T	0.11836	0.0288	M	0.72118	2.19	0.09310	N	1	P;P	0.35433	0.501;0.501	B;B	0.33042	0.157;0.157	T	0.19386	-1.0307	10	0.10636	T	0.68	-9.1945	5.8951	0.18935	0.3418:0.0:0.6582:0.0	.	1085;1090	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	T	1090;1090;1090;1011;1085	ENSP00000364839:R1090T;ENSP00000305119:R1085T	ENSP00000305119:R1085T	R	+	2	0	ASXL1	30487445	0.010000	0.17322	0.002000	0.10522	0.031000	0.12232	1.726000	0.38085	0.693000	0.31634	-0.367000	0.07326	AGA		0.572	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		20	73	0	0	0	1	0	20	73		
GSS	2937	broad.mit.edu	37	20	33530781	33530781	+	Missense_Mutation	SNP	G	G	A	rs373345937		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:33530781G>A	ENST00000216951.2	-	4	402	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	GSS_ENST00000541098.1_5'UTR|GSS_ENST00000451957.2_Intron	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	102					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCAAAGAGACGAGCGGTAAAG	0.478																																						uc002xbg.2		NaN																	0				ovary(3)	3						c.(304-306)CGT>TGT		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	143.0	122.0	129.0		304	4.4	1.0	20		129	0,8600		0,0,4300	no	missense	GSS	NM_000178.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	102/475	33530781	1,13005	2203	4300	6503	SO:0001583	missense	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33530781G>A		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.304C>T	20.37:g.33530781G>A	ENSP00000216951:p.Arg102Cys					GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Intron|GSS_uc010zup.1_Missense_Mutation_p.R33C|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR	p.R102C	NM_000178	NP_000169	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		4	384	-			102					B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	c.304C>T	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979020	0.53827	2.27E-4	0.0	ENSG00000100983	ENST00000216951	D	0.92495	-3.05	5.33	4.37	0.52481	Glutathione synthase, alpha-helical, eukaryotic (1);	0.190982	0.56097	D	0.000037	D	0.91898	0.7435	M	0.84773	2.715	0.80722	D	1	B	0.26672	0.156	B	0.15870	0.014	D	0.90959	0.4811	10	0.72032	D	0.01	1.0518	14.0599	0.64793	0.0:0.0:0.8481:0.1519	.	102	P48637	GSHB_HUMAN	C	102	ENSP00000216951:R102C	ENSP00000216951:R102C	R	-	1	0	GSS	32994442	0.915000	0.31059	0.980000	0.43619	0.946000	0.59487	5.819000	0.69243	1.438000	0.47492	0.563000	0.77884	CGT		0.478	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2				5	9	0	0	0	1	0	5	9		
TTI1	9675	broad.mit.edu	37	20	36634718	36634718	+	Missense_Mutation	SNP	C	C	G	rs577513143		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:36634718C>G	ENST00000373448.2	-	4	2622	c.2384G>C	c.(2383-2385)aGa>aCa	p.R795T	TTI1_ENST00000449821.1_Missense_Mutation_p.R795T|TTI1_ENST00000373447.3_Missense_Mutation_p.R795T	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	795					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGCTGCTGGTCTTTGGTTCAA	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17410	0.0		0.0	False		,,,				2504	0.0					uc002xhl.2		NaN																	0					0						c.(2383-2385)AGA>ACA		hypothetical protein LOC9675							239.0	212.0	221.0					20																	36634718		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36634718C>G	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2384G>C	20.37:g.36634718C>G	ENSP00000362547:p.Arg795Thr					KIAA0406_uc002xhm.2_Missense_Mutation_p.R795T	p.R795T	NM_014657	NP_055472	O43156	TTI1_HUMAN			4	2593	-		Myeloproliferative disorder(115;0.00874)	795					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.2384G>C	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	3.993	-0.004091	0.07773	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.70399	-0.48;-0.48;-0.48	5.1	2.09	0.27110	Armadillo-type fold (1);	0.794249	0.12324	N	0.478962	T	0.57213	0.2038	L	0.54323	1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39742	-0.9599	10	0.13470	T	0.59	-0.1382	3.0017	0.06016	0.1492:0.4852:0.2622:0.1034	.	795	O43156	TTI1_HUMAN	T	795	ENSP00000362547:R795T;ENSP00000362546:R795T;ENSP00000407270:R795T	ENSP00000362546:R795T	R	-	2	0	TTI1	36068132	0.000000	0.05858	0.007000	0.13788	0.113000	0.19764	-0.240000	0.08952	0.313000	0.23062	-0.259000	0.10710	AGA		0.463	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2		NM_014657		52	73	0	0	0	1	0	52	73		
ZHX3	23051	broad.mit.edu	37	20	39832521	39832521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:39832521C>A	ENST00000309060.3	-	4	1451	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Nonsense_Mutation_p.E346*|ZHX3_ENST00000559234.1_Nonsense_Mutation_p.E346*|ZHX3_ENST00000540170.1_Nonsense_Mutation_p.E346*|ZHX3_ENST00000432768.2_Nonsense_Mutation_p.E346*|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Nonsense_Mutation_p.E346*			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	346	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTGAGCTGTTCTTCTGGATAC	0.507																																						uc002xjs.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1036-1038)GAA>TAA		zinc fingers and homeoboxes 3							90.0	89.0	89.0					20																	39832521		2203	4300	6503	SO:0001587	stop_gained	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832521C>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1036G>T	20.37:g.39832521C>A	ENSP00000312222:p.Glu346*					ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjt.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xju.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjv.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjw.1_Nonsense_Mutation_p.E346*|ZHX3_uc010ggg.1_Nonsense_Mutation_p.E346*	p.E346*	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN			3	1414	-		Myeloproliferative disorder(115;0.00425)	346			Homeobox 1.|Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Nonsense_Mutation	SNP	ENST00000309060.3	37	c.1036G>T	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.824358|7.824358	0.98510|0.98510	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768|ENST00000421422	.|.	.|.	.|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80330	.|0.4603	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77913	.|-0.2410	.|3	0.51188|.	T|.	0.08|.	-21.184|-21.184	20.2422|20.2422	0.98381|0.98381	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	346;346;346;346;124;346|54	.|.	ENSP00000312222:E346X|.	E|R	-|-	1|2	0|0	ZHX3|ZHX3	39265935|39265935	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.997000|0.997000	0.91878|0.91878	5.920000|5.920000	0.70017|0.70017	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.507	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3		NM_015035		25	42	1	0	3.08376e-08	1	3.34384e-08	25	42		
EMILIN3	90187	broad.mit.edu	37	20	39990162	39990162	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:39990162G>C	ENST00000332312.3	-	4	2239	c.2047C>G	c.(2047-2049)Cag>Gag	p.Q683E		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	683						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				ACTGTGTGCTGAAGTTTCTGG	0.657																																						uc002xjy.1		NaN																	0				ovary(1)	1						c.(2047-2049)CAG>GAG		elastin microfibril interfacer 3							43.0	31.0	35.0					20																	39990162		2201	4297	6498	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990162G>C	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.2047C>G	20.37:g.39990162G>C	ENSP00000332806:p.Gln683Glu						p.Q683E	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	2271	-		Myeloproliferative disorder(115;0.00425)	683					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.2047C>G	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719093	0.30503	.	.	ENSG00000183798	ENST00000332312	T	0.77489	-1.1	5.1	5.1	0.69264	.	0.331184	0.32488	N	0.006030	T	0.69566	0.3125	L	0.46157	1.445	0.26658	N	0.971968	B	0.31625	0.332	B	0.27380	0.079	T	0.62091	-0.6927	9	.	.	.	-11.0913	13.4784	0.61322	0.0:0.0:0.8435:0.1565	.	683	Q9NT22	EMIL3_HUMAN	E	683	ENSP00000332806:Q683E	.	Q	-	1	0	EMILIN3	39423576	1.000000	0.71417	0.990000	0.47175	0.941000	0.58515	5.219000	0.65262	2.348000	0.79779	0.561000	0.74099	CAG		0.657	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2		XM_029741		5	24	0	0	0	1	0	5	24		
PLTP	5360	broad.mit.edu	37	20	44538206	44538206	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44538206G>A	ENST00000477313.1	-	4	1028	c.434C>T	c.(433-435)tCc>tTc	p.S145F	PLTP_ENST00000420868.2_Intron|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.S57F|PLTP_ENST00000372431.3_Missense_Mutation_p.S145F|PLTP_ENST00000542937.1_Missense_Mutation_p.S165F			P55058	PLTP_HUMAN	phospholipid transfer protein	145					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GGCCTGGCAGGAGACATTGGA	0.622																																						uc002xqn.1		NaN																	0				ovary(1)	1						c.(433-435)TCC>TTC		phospholipid transfer protein isoform a							71.0	69.0	70.0					20																	44538206		2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44538206G>A	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.434C>T	20.37:g.44538206G>A	ENSP00000417138:p.Ser145Phe					PLTP_uc002xql.1_Missense_Mutation_p.S57F|PLTP_uc002xqm.1_Missense_Mutation_p.S165F|PLTP_uc002xqo.1_Intron|PLTP_uc002xqp.1_Missense_Mutation_p.S145F|PLTP_uc002xqq.1_Missense_Mutation_p.S114F|PLTP_uc010zxj.1_Intron|PLTP_uc010ghj.1_Missense_Mutation_p.S145F	p.S145F	NM_006227	NP_006218	P55058	PLTP_HUMAN			5	514	-		Myeloproliferative disorder(115;0.0122)	145					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.434C>T	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026678	0.75390	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000477313;ENST00000542937	T;T;T;T	0.05580	3.42;3.42;3.42;3.42	4.97	4.97	0.65823	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.051847	0.85682	D	0.000000	T	0.22399	0.0540	M	0.66939	2.045	0.48571	D	0.999672	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.70716	0.97;0.97;0.97;0.962	T	0.00101	-1.2064	10	0.72032	D	0.01	-34.133	14.8757	0.70493	0.0:0.1438:0.8561:0.0	.	57;145;145;165	B4DDD5;Q53H91;P55058;B3KUE5	.;.;PLTP_HUMAN;.	F	57;145;145;165	ENSP00000361497:S57F;ENSP00000361508:S145F;ENSP00000417138:S145F;ENSP00000440296:S165F	ENSP00000361497:S57F	S	-	2	0	PLTP	43971613	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	3.790000	0.55461	2.595000	0.87683	0.462000	0.41574	TCC		0.622	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1		NM_006227		17	130	0	0	0	1	0	17	130		
PCIF1	63935	broad.mit.edu	37	20	44567904	44567904	+	Missense_Mutation	SNP	C	C	T	rs531224212		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44567904C>T	ENST00000372409.3	+	4	539	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	59	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GAGGGAGAATCGTCCCTACTA	0.632																																						uc002xqs.2		NaN																	0				skin(1)	1						c.(175-177)CGT>TGT		phosphorylated CTD interacting factor 1							95.0	86.0	89.0					20																	44567904		2203	4300	6503	SO:0001583	missense	63935					nucleus		g.chr20:44567904C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.175C>T	20.37:g.44567904C>T	ENSP00000361486:p.Arg59Cys						p.R59C	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			4	489	+			59			WW.		E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.175C>T	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522005	0.85600	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	D	0.87491	-2.26	5.07	5.07	0.68467	WW/Rsp5/WWP (5);	0.000000	0.85682	D	0.000000	D	0.94522	0.8236	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95279	0.8384	10	0.87932	D	0	-9.8578	17.6088	0.88046	0.0:1.0:0.0:0.0	.	59	Q9H4Z3	PCIF1_HUMAN	C	59	ENSP00000361486:R59C	ENSP00000361486:R59C	R	+	1	0	PCIF1	44001311	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.679000	0.61649	2.629000	0.89072	0.591000	0.81541	CGT		0.632	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1		NM_022104		16	91	0	0	0	1	0	16	91		
ZNF335	63925	broad.mit.edu	37	20	44578480	44578480	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44578480C>T	ENST00000322927.2	-	24	3728	c.3628G>A	c.(3628-3630)Gat>Aat	p.D1210N	ZNF335_ENST00000426788.1_Missense_Mutation_p.D1055N	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1210	Gln-rich.				brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GTCTGGCCATCTGCCGTGGTG	0.582																																						uc002xqw.2		NaN																	0				skin(3)|ovary(1)	4						c.(3628-3630)GAT>AAT		zinc finger protein 335							159.0	128.0	139.0					20																	44578480		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44578480C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3628G>A	20.37:g.44578480C>T	ENSP00000325326:p.Asp1210Asn					ZNF335_uc002xqv.2_Missense_Mutation_p.D322N|ZNF335_uc010zxk.1_Missense_Mutation_p.D1055N	p.D1210N	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			24	3751	-		Myeloproliferative disorder(115;0.0122)	1210			Gln-rich.		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.3628G>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696328	0.88830	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.44083	0.93;0.93	4.78	4.78	0.61160	.	0.109079	0.64402	D	0.000011	T	0.48822	0.1521	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.22487	-1.0215	10	0.09590	T	0.72	-21.1722	17.3275	0.87253	0.0:1.0:0.0:0.0	.	1055;1210	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	N	1210;987;1055	ENSP00000325326:D1210N;ENSP00000397098:D1055N	ENSP00000243961:D987N	D	-	1	0	ZNF335	44011887	1.000000	0.71417	0.977000	0.42913	0.974000	0.67602	7.068000	0.76748	2.654000	0.90174	0.561000	0.74099	GAT		0.582	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1		NM_022095		16	99	0	0	0	1	0	16	99		
SLC13A3	64849	broad.mit.edu	37	20	45192108	45192108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:45192108G>T	ENST00000279027.4	-	12	1595	c.1577C>A	c.(1576-1578)tCa>tAa	p.S526*	SLC13A3_ENST00000413164.2_Nonsense_Mutation_p.S476*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.S479*|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.S479*|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.S444*|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.S444*|SLC13A3_ENST00000435032.1_Nonsense_Mutation_p.S111*	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	526					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGGGGCGTTGAGACCGGGAG	0.617																																						uc002xsf.1		NaN																	0				ovary(1)	1						c.(1576-1578)TCA>TAA		solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)						52.0	45.0	47.0					20																	45192108		2203	4300	6503	SO:0001587	stop_gained	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45192108G>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1577C>A	20.37:g.45192108G>T	ENSP00000279027:p.Ser526*					SLC13A3_uc010ghn.1_Nonsense_Mutation_p.S495*|SLC13A3_uc010zxw.1_Nonsense_Mutation_p.S476*|SLC13A3_uc002xsg.1_Nonsense_Mutation_p.S479*|SLC13A3_uc010gho.1_Nonsense_Mutation_p.S444*|SLC13A3_uc010zxx.1_Nonsense_Mutation_p.S428*|SLC13A3_uc002xse.1_Nonsense_Mutation_p.S17*|SLC13A3_uc010ghm.1_Nonsense_Mutation_p.S113*|SLC13A3_uc010zxv.1_Nonsense_Mutation_p.S111*	p.S526*	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			12	1615	-		Myeloproliferative disorder(115;0.0122)	526			Helical; (Potential).		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Nonsense_Mutation	SNP	ENST00000279027.4	37	c.1577C>A	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	38	7.278179	0.98182	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-11.7339	19.0927	0.93233	0.0:0.0:1.0:0.0	.	.	.	.	X	479;444;111;526;444;476;479	.	ENSP00000279027:S526X	S	-	2	0	SLC13A3	44625515	1.000000	0.71417	0.955000	0.39395	0.863000	0.49368	9.731000	0.98807	2.514000	0.84764	0.561000	0.74099	TCA		0.617	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2				13	23	1	0	1.5842e-08	1	1.72077e-08	13	23		
NCOA3	8202	broad.mit.edu	37	20	46267858	46267858	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:46267858C>G	ENST00000371998.3	+	14	2810	c.2619C>G	c.(2617-2619)atC>atG	p.I873M	NCOA3_ENST00000372004.3_Missense_Mutation_p.I873M|NCOA3_ENST00000341724.6_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.I883M			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	873					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TAAAAAATATCAGTGCTTTCC	0.438																																						uc002xtk.2		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(2617-2619)ATC>ATG		nuclear receptor coactivator 3 isoform a							120.0	114.0	116.0					20																	46267858		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46267858C>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2619C>G	20.37:g.46267858C>G	ENSP00000361066:p.Ile873Met					NCOA3_uc010ght.1_Missense_Mutation_p.I883M|NCOA3_uc002xtl.2_Missense_Mutation_p.I873M|NCOA3_uc002xtm.2_Missense_Mutation_p.I873M|NCOA3_uc002xtn.2_Missense_Mutation_p.I873M|NCOA3_uc010zyc.1_Missense_Mutation_p.I668M	p.I873M	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			14	2824	+			873					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.2619C>G	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	9.122	1.009322	0.19277	.	.	ENSG00000124151	ENST00000340189;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T	0.02032	4.65;4.66;4.49	5.61	-2.31	0.06765	.	0.238173	0.35739	N	0.003014	T	0.02304	0.0071	L	0.40543	1.245	0.80722	D	1	P;P;P;B;P;P	0.50710	0.614;0.938;0.614;0.44;0.575;0.614	B;P;B;B;B;B	0.45232	0.243;0.474;0.243;0.243;0.424;0.243	T	0.56836	-0.7913	10	0.49607	T	0.09	-7.3735	7.1831	0.25784	0.0:0.3828:0.2868:0.3304	.	873;883;877;873;873;873	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	M	873;873;873;883	ENSP00000361073:I873M;ENSP00000361066:I873M;ENSP00000361065:I883M	ENSP00000345671:I873M	I	+	3	3	NCOA3	45701265	0.938000	0.31826	0.555000	0.28281	0.145000	0.21501	0.546000	0.23284	-0.240000	0.09696	-0.312000	0.09012	ATC		0.438	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534		22	69	0	0	0	1	0	22	69		
DDX27	55661	broad.mit.edu	37	20	47859135	47859135	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:47859135G>C	ENST00000371764.4	+	19	2223	c.2214G>C	c.(2212-2214)aaG>aaC	p.K738N	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	738						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCACAGCCAAGAAGCAAAAGC	0.433																																						uc002xuh.2		NaN																	0				kidney(2)	2						c.(2212-2214)AAG>AAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							157.0	156.0	156.0					20																	47859135		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47859135G>C	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2214G>C	20.37:g.47859135G>C	ENSP00000360828:p.Lys738Asn						p.K738N	NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		19	2275	+			738					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.2214G>C	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445256	0.43429	.	.	ENSG00000124228	ENST00000371764	T	0.01584	4.75	5.91	3.83	0.44106	.	0.234965	0.43579	D	0.000549	T	0.02455	0.0075	L	0.55743	1.74	0.80722	D	1	B	0.28713	0.22	B	0.26864	0.074	T	0.52328	-0.8590	10	0.44086	T	0.13	-23.4317	9.7889	0.40692	0.0778:0.1407:0.7815:0.0	.	738	Q96GQ7	DDX27_HUMAN	N	738	ENSP00000360828:K738N	ENSP00000360828:K738N	K	+	3	2	DDX27	47292542	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.696000	0.37773	1.469000	0.48083	0.655000	0.94253	AAG		0.433	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1				21	125	0	0	0	1	0	21	125		
ZNFX1	57169	broad.mit.edu	37	20	47888002	47888002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:47888002C>G	ENST00000396105.1	-	3	593	c.347G>C	c.(346-348)aGa>aCa	p.R116T	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R116T|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R116T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	116							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCATGGTGGTCTGCGGTTCCT	0.547																																						uc002xui.2		NaN																	0				ovary(2)	2						c.(346-348)AGA>ACA		zinc finger, NFX1-type containing 1							260.0	228.0	239.0					20																	47888002		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47888002C>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.347G>C	20.37:g.47888002C>G	ENSP00000379412:p.Arg116Thr						p.R116T	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	594	-			116					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.347G>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692042	0.48097	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744	D;D;D;T	0.87029	-1.94;-2.2;-2.2;-0.85	5.97	5.97	0.96955	.	0.075137	0.53938	D	0.000051	D	0.89431	0.6713	L	0.54323	1.7	0.29763	N	0.835401	D	0.71674	0.998	P	0.56343	0.796	D	0.84866	0.0822	10	0.25751	T	0.34	-15.4639	15.9389	0.79739	0.0:1.0:0.0:0.0	.	116	Q9P2E3	ZNFX1_HUMAN	T	116	ENSP00000360819:R116T;ENSP00000360817:R116T;ENSP00000379412:R116T;ENSP00000360809:R116T	ENSP00000360809:R116T	R	-	2	0	ZNFX1	47321409	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.919000	0.40015	2.836000	0.97738	0.655000	0.94253	AGA		0.547	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2		NM_021035		60	243	0	0	0	1	0	60	243		
UBE2V1	7335	broad.mit.edu	37	20	48699389	48699389	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:48699389G>A	ENST00000371674.3	-	4	404	c.360C>T	c.(358-360)gtC>gtT	p.V120V	UBE2V1_ENST00000371657.5_Silent_p.V78V|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.V343V|TMEM189_ENST00000557021.1_Silent_p.V343V|UBE2V1_ENST00000420027.2_Silent_p.V76V|UBE2V1_ENST00000340309.3_Silent_p.V143V|UBE2V1_ENST00000371677.3_Silent_p.V143V|UBE2V1_ENST00000415862.2_Silent_p.V76V|UBE2V1_ENST00000396059.3_5'UTR	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	120					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			GCTCTTGCAGGACAACTTTGA	0.418																																						uc002xvf.2		NaN																	0					0						c.(1027-1029)GTC>GTT		TMEM189-UBE2V1 readthrough transcript							74.0	72.0	73.0					20																	48699389		2203	4300	6503	SO:0001819	synonymous_variant	387522				cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex	acid-amino acid ligase activity|protein binding	g.chr20:48699389G>A	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.360C>T	20.37:g.48699389G>A						UBE2V1_uc002xvb.2_RNA|UBE2V1_uc002xva.2_Silent_p.V120V|UBE2V1_uc002xvc.2_Silent_p.V76V|UBE2V1_uc002xvd.2_Silent_p.V143V|UBE2V1_uc002xve.2_Silent_p.V143V	p.V343V	NM_199203	NP_954673	Q13404	UB2V1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;8.29e-07)		8	1190	-			120					E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Silent	SNP	ENST00000371674.3	37	c.1029C>T	CCDS33483.1																																																																																				0.418	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1		NM_021988		18	73	0	0	0	1	0	18	73		
MC3R	4159	broad.mit.edu	37	20	54824451	54824451	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:54824451G>C	ENST00000243911.2	+	1	664	c.552G>C	c.(550-552)gaG>gaC	p.E184D		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	184					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTACTCGGAGAGCAAAATGG	0.572																																						uc002xxb.2		NaN																	0				ovary(2)|breast(2)	4						c.(550-552)GAG>GAC		melanocortin 3 receptor							220.0	194.0	203.0					20																	54824451		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824451G>C		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.552G>C	20.37:g.54824451G>C	ENSP00000243911:p.Glu184Asp						p.E184D	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	664	+			221			Extracellular (Potential).		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.552G>C	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	7.369	0.626486	0.14257	.	.	ENSG00000124089	ENST00000243911	T	0.72051	-0.62	5.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.46776	0.1410	N	0.20328	0.56	0.38644	D	0.951676	B	0.25235	0.121	B	0.26416	0.069	T	0.40794	-0.9544	10	0.02654	T	1	.	6.7242	0.23346	0.1524:0.1511:0.6964:0.0	.	221	P41968	MC3R_HUMAN	D	184	ENSP00000243911:E184D	ENSP00000243911:E184D	E	+	3	2	MC3R	54257858	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.470000	0.35354	1.212000	0.43366	0.650000	0.86243	GAG		0.572	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2				11	91	0	0	0	1	0	11	91		
GNAS	2778	broad.mit.edu	37	20	57484238	57484238	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:57484238G>A	ENST00000371085.3	+	7	976	c.552G>A	c.(550-552)gtG>gtA	p.V184V	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Silent_p.V827V|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Silent_p.V170V|GNAS_ENST00000265620.7_Silent_p.V169V|GNAS_ENST00000354359.7_Silent_p.V185V|GNAS_ENST00000371102.4_Silent_p.V813V|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Silent_p.V170V	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	184					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V184V(1)|p.V827V(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGATCGACGTGATCAAGCAGG	0.507			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NaN		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		2	Substitution - coding silent(2)		lung(2)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(2479-2481)GTG>GTA		GNAS complex locus XLas							255.0	249.0	251.0					20																	57484238		2203	4300	6503	SO:0001819	synonymous_variant	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484238G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.552G>A	20.37:g.57484238G>A		TSP Lung(22;0.16)				GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.V125V|GNAS_uc002xzx.2_Silent_p.V125V|GNAS_uc010gjr.2_Silent_p.V75V|GNAS_uc002xzy.2_Silent_p.V110V|GNAS_uc002yaa.2_Silent_p.V170V|GNAS_uc010zzt.1_Silent_p.V185V|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.V75V|GNAS_uc002yae.2_Silent_p.V109V	p.V827V	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		7	2766	+	all_lung(29;0.0104)		184					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000371085.3	37	c.2481G>A	CCDS13472.1																																																																																				0.507	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2		NM_000516		58	249	0	0	0	1	0	58	249		
TAF4	6874	broad.mit.edu	37	20	60575275	60575275	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:60575275C>A	ENST00000252996.4	-	11	2691	c.2692G>T	c.(2692-2694)Gta>Tta	p.V898L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	898					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TAACTTACTACATCTGGATGT	0.348																																						uc002ybs.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2692-2694)GTA>TTA		TBP-associated factor 4							149.0	139.0	142.0					20																	60575275		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60575275C>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2692G>T	20.37:g.60575275C>A	ENSP00000252996:p.Val898Leu						p.V898L	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		11	2692	-	Breast(26;1e-08)		898					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2692G>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541870	0.85917	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.33216	1.44;1.42	4.7	4.7	0.59300	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.133612	0.49916	D	0.000126	T	0.50854	0.1640	M	0.66378	2.025	0.80722	D	1	D	0.60160	0.987	P	0.59357	0.856	T	0.53975	-0.8362	10	0.51188	T	0.08	-14.3594	17.6539	0.88172	0.0:1.0:0.0:0.0	.	898	O00268	TAF4_HUMAN	L	898;762	ENSP00000252996:V898L;ENSP00000399091:V762L	ENSP00000252996:V898L	V	-	1	0	TAF4	60008670	1.000000	0.71417	0.074000	0.20217	0.785000	0.44390	7.175000	0.77632	2.152000	0.67230	0.561000	0.74099	GTA		0.348	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2		NM_003185		11	95	1	0	6.42651e-13	1	7.25574e-13	11	95		
DIDO1	11083	broad.mit.edu	37	20	61512984	61512984	+	Missense_Mutation	SNP	C	C	G	rs142722598		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:61512984C>G	ENST00000266070.4	-	16	4649	c.4324G>C	c.(4324-4326)Gat>Cat	p.D1442H	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1442H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1442					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCAGGTCATCAACAGTCACT	0.627																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(4324-4326)GAT>CAT		death inducer-obliterator 1 isoform c							97.0	107.0	104.0					20																	61512984		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512984C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4324G>C	20.37:g.61512984C>G	ENSP00000266070:p.Asp1442His					DIDO1_uc002yds.1_Missense_Mutation_p.D1442H	p.D1442H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4588	-	Breast(26;5.68e-08)		1442					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4324G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974340	0.53720	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10288	2.89;2.89	5.8	4.85	0.62838	.	0.000000	0.44483	D	0.000444	T	0.14442	0.0349	M	0.68317	2.08	0.80722	D	1	P	0.38167	0.621	B	0.30572	0.117	T	0.02365	-1.1170	10	0.72032	D	0.01	-32.0173	16.9647	0.86282	0.0:0.8724:0.1276:0.0	.	1442	Q9BTC0	DIDO1_HUMAN	H	1442	ENSP00000266070:D1442H;ENSP00000378752:D1442H	ENSP00000266070:D1442H	D	-	1	0	DIDO1	60983429	0.987000	0.35691	0.167000	0.22817	0.012000	0.07955	3.318000	0.51975	1.428000	0.47296	0.655000	0.94253	GAT		0.627	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		46	92	0	0	0	1	0	46	92		
COL20A1	57642	broad.mit.edu	37	20	61936863	61936863	+	Silent	SNP	C	C	T	rs371649528		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:61936863C>T	ENST00000358894.6	+	4	388	c.288C>T	c.(286-288)ttC>ttT	p.F96F	COL20A1_ENST00000422202.1_Silent_p.F96F|COL20A1_ENST00000326996.6_Silent_p.F96F|COL20A1_ENST00000435874.1_Silent_p.F96F	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	96	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCAGATCTTCGAGCTCACTG	0.627																																						uc011aau.1		NaN																	0				central_nervous_system(1)	1						c.(286-288)TTC>TTT		collagen, type XX, alpha 1		C		1,3911		0,1,1955	34.0	37.0	36.0		288	-4.9	0.5	20		36	0,8294		0,0,4147	no	coding-synonymous	COL20A1	NM_020882.2		0,1,6102	TT,TC,CC		0.0,0.0256,0.0082		96/1285	61936863	1,12205	1956	4147	6103	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61936863C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.288C>T	20.37:g.61936863C>T						COL20A1_uc011aav.1_5'Flank	p.F96F	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			4	388	+	all_cancers(38;1.39e-10)		96			Fibronectin type-III 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.288C>T	CCDS46628.1																																																																																				0.627	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2		NM_020882		7	7	0	0	0	1	0	7	7		
HELZ2	85441	broad.mit.edu	37	20	62200734	62200734	+	Silent	SNP	G	G	A	rs147054984		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:62200734G>A	ENST00000467148.1	-	4	924	c.855C>T	c.(853-855)ctC>ctT	p.L285L	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	285					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CAGGGTGGCCGAGCGCCAGAT	0.692																																						uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(853-855)CTC>CTT		PPAR-alpha interacting complex protein 285		G		2,4380		0,2,2189	18.0	22.0	21.0		855	-8.6	0.0	20	dbSNP_134	21	0,8592		0,0,4296	no	coding-synonymous	PRIC285	NM_001037335.2		0,2,6485	AA,AG,GG		0.0,0.0456,0.0154		285/2650	62200734	2,12972	2191	4296	6487	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62200734G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.855C>T	20.37:g.62200734G>A						PRIC285_uc002yfl.1_5'Flank	p.L285L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		5	1747	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		285					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.855C>T	CCDS33508.1																																																																																				0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		5	14	0	0	0	1	0	5	14		
TCEA2	6919	broad.mit.edu	37	20	62701842	62701842	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:62701842G>C	ENST00000343484.5	+	8	842	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000361317.2_Splice_Site_p.E198Q	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	225	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CGTGCTCCAGGAGATGGCCAG	0.642																																						uc011abs.1		NaN																	0					0						c.(673-675)GAG>CAG		transcription elongation factor A protein 2							56.0	57.0	57.0					20																	62701842		2203	4300	6503	SO:0001630	splice_region_variant	6919				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	g.chr20:62701842G>C	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.673-1G>C	20.37:g.62701842G>C						TCEA2_uc011abr.1_Missense_Mutation_p.E198Q|TCEA2_uc010gks.2_Missense_Mutation_p.E226Q	p.E225Q	NM_003195	NP_003186	Q15560	TCEA2_HUMAN			8	1329	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		225			TFIIS central.		B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	ENST00000343484.5	37	c.673G>C	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184652	0.78677	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.3	4.3	0.51218	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.054132	0.64402	D	0.000001	T	0.76976	0.4063	M	0.80746	2.51	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.992;0.974	T	0.80652	-0.1287	10	0.54805	T	0.06	2.1734	17.1181	0.86694	0.0:0.0:1.0:0.0	.	225;225;198	Q15560;Q6IB64;B3KNM1	TCEA2_HUMAN;.;.	Q	198;225;198;198;198	ENSP00000354552:E198Q;ENSP00000343515:E225Q;ENSP00000339432:E198Q;ENSP00000407085:E198Q;ENSP00000416026:E198Q	ENSP00000339432:E198Q	E	+	1	0	TCEA2	62172286	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.610000	0.98337	2.123000	0.65237	0.462000	0.41574	GAG		0.642	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2		NM_198723	Missense_Mutation	18	31	0	0	0	1	0	18	31		
SOD1	6647	broad.mit.edu	37	21	33039654	33039654	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:33039654C>G	ENST00000270142.6	+	4	471	c.323C>G	c.(322-324)tCa>tGa	p.S108*	SNORA81_ENST00000458922.1_RNA|SOD1_ENST00000389995.4_Nonsense_Mutation_p.S89*|AP000254.8_ENST00000609934.1_RNA|SOD1_ENST00000470944.1_3'UTR	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	108					activation of MAPK activity (GO:0000187)|anterograde axon cargo transport (GO:0008089)|auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryo implantation (GO:0007566)|glutathione metabolic process (GO:0006749)|heart contraction (GO:0060047)|hydrogen peroxide biosynthetic process (GO:0050665)|locomotory behavior (GO:0007626)|muscle cell cellular homeostasis (GO:0046716)|myeloid cell homeostasis (GO:0002262)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament cytoskeleton organization (GO:0060052)|ovarian follicle development (GO:0001541)|peripheral nervous system myelin maintenance (GO:0032287)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cytokine production (GO:0001819)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of superoxide anion generation (GO:0032930)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of multicellular organism growth (GO:0040014)|regulation of organ growth (GO:0046620)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of T cell differentiation in thymus (GO:0033081)|relaxation of vascular smooth muscle (GO:0060087)|removal of superoxide radicals (GO:0019430)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to hydrogen peroxide (GO:0042542)|response to nutrient levels (GO:0031667)|response to organic substance (GO:0010033)|response to superoxide (GO:0000303)|retina homeostasis (GO:0001895)|retrograde axon cargo transport (GO:0008090)|sensory perception of sound (GO:0007605)|spermatogenesis (GO:0007283)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|thymus development (GO:0048538)|transmission of nerve impulse (GO:0019226)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|peroxisome (GO:0005777)|protein complex (GO:0043234)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein phosphatase 2B binding (GO:0030346)|Rac GTPase binding (GO:0048365)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(1)	4					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	ATCTCACTCTCAGGAGACCAT	0.403																																						uc002ypa.2		NaN																	0					0						c.(322-324)TCA>TGA		superoxide dismutase 1, soluble							228.0	191.0	203.0					21																	33039654		2203	4300	6503	SO:0001587	stop_gained	6647				activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding	g.chr21:33039654C>G	AY049787, X02317	CCDS33536.1	21q22.11	2014-09-17	2008-07-31		ENSG00000142168	ENSG00000142168	1.15.1.1		11179	protein-coding gene	gene with protein product		147450	"""amyotrophic lateral sclerosis 1 (adult)"""	ALS, ALS1		8446170	Standard	NM_000454		Approved	IPOA	uc002ypa.3	P00441	OTTHUMG00000084878	ENST00000270142.6:c.323C>G	21.37:g.33039654C>G	ENSP00000270142:p.Ser108*					SOD1_uc002ypb.2_Nonsense_Mutation_p.S89*|SOD1_uc002ypc.2_RNA	p.S108*	NM_000454	NP_000445	P00441	SODC_HUMAN			4	471	+			108					A6NHJ0|D3DSE4|Q16669|Q16711|Q16838|Q16839|Q16840|Q6NR85	Nonsense_Mutation	SNP	ENST00000270142.6	37	c.323C>G	CCDS33536.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519411	0.27211	.	.	ENSG00000142168	ENST00000270142;ENST00000389995	.	.	.	5.02	2.12	0.27331	.	0.604415	0.17607	N	0.168203	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-3.5401	5.6368	0.17542	0.1344:0.5349:0.2599:0.0708	.	.	.	.	X	108;89	.	ENSP00000270142:S108X	S	+	2	0	SOD1	31961525	0.000000	0.05858	0.045000	0.18777	0.027000	0.11550	0.255000	0.18333	0.354000	0.24105	-0.251000	0.11542	TCA		0.403	SOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192585.2		NM_000454		9	81	0	0	0	1	0	9	81		
DSCAM	1826	broad.mit.edu	37	21	41496164	41496164	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:41496164G>A	ENST00000400454.1	-	20	4131	c.3654C>T	c.(3652-3654)atC>atT	p.I1218I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1218	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTTTCGGATGATGCCGTTCA	0.572																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3652-3654)ATC>ATT		Down syndrome cell adhesion molecule isoform							167.0	176.0	173.0					21																	41496164		2045	4186	6231	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41496164G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3654C>T	21.37:g.41496164G>A						DSCAM_uc002yyr.1_RNA	p.I1218I	NM_001389	NP_001380	O60469	DSCAM_HUMAN			20	4106	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1218			Fibronectin type-III 4.|Extracellular (Potential).		O60468	Silent	SNP	ENST00000400454.1	37	c.3654C>T	CCDS42929.1																																																																																				0.572	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		34	110	0	0	0	1	0	34	110		
RRP1B	23076	broad.mit.edu	37	21	45107624	45107624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:45107624G>T	ENST00000340648.4	+	13	1486	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	457					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CACTGGGGAGGAGAGTGGCTC	0.637																																						uc002zdk.2		NaN																	0				skin(1)	1						c.(1369-1371)GAG>TAG		ribosomal RNA processing 1 homolog B							32.0	35.0	34.0					21																	45107624		2203	4300	6503	SO:0001587	stop_gained	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107624G>T	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1369G>T	21.37:g.45107624G>T	ENSP00000339145:p.Glu457*					RRP1B_uc002zdl.2_5'UTR	p.E457*	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	13	1483	+			457					Q8TBZ4	Nonsense_Mutation	SNP	ENST00000340648.4	37	c.1369G>T	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	38	6.810646	0.97857	.	.	ENSG00000160208	ENST00000340648	.	.	.	4.88	0.861	0.19048	.	1.106470	0.06706	N	0.772273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.7519	6.5582	0.22471	0.2639:0.4636:0.2725:0.0	.	.	.	.	X	457	.	ENSP00000339145:E457X	E	+	1	0	RRP1B	43932052	0.000000	0.05858	0.001000	0.08648	0.570000	0.35934	-0.191000	0.09601	-0.056000	0.13221	0.561000	0.74099	GAG		0.637	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1		NM_015056		18	41	1	0	3.41278e-10	1	3.78198e-10	18	41		
ADARB1	104	broad.mit.edu	37	21	46603308	46603308	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:46603308C>G	ENST00000360697.3	+	5	1294	c.1279C>G	c.(1279-1281)Cag>Gag	p.Q427E	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Missense_Mutation_p.Q427E|ADARB1_ENST00000348831.4_Missense_Mutation_p.Q427E|ADARB1_ENST00000539173.1_Missense_Mutation_p.Q427E			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	427	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ATCCATCTTTCAGAAATCAGA	0.378																																						uc002zgy.2		NaN																	0				skin(1)	1						c.(1279-1281)CAG>GAG		RNA-specific adenosine deaminase B1 isoform 2							52.0	56.0	54.0					21																	46603308		2203	4300	6503	SO:0001583	missense	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46603308C>G	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1279C>G	21.37:g.46603308C>G	ENSP00000353920:p.Gln427Glu					ADARB1_uc002zgr.2_Missense_Mutation_p.Q427E|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.Q427E|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.Q427E|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	p.Q427E	NM_015833	NP_056648	P78563	RED1_HUMAN		Colorectal(79;0.115)	7	1714	+			427			A to I editase.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.1279C>G	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299845	0.05532	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.63	2.32	0.28847	Adenosine deaminase/editase (3);	0.506620	0.22008	N	0.065917	T	0.29423	0.0733	N	0.00128	-2.045	0.30952	N	0.72464	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.38564	-0.9655	10	0.10636	T	0.68	-33.8586	7.5416	0.27742	0.2836:0.44:0.2764:0.0	.	427;427;455;427	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	E	427	ENSP00000441897:Q427E;ENSP00000374513:Q427E;ENSP00000015877:Q427E;ENSP00000353920:Q427E	ENSP00000015877:Q427E	Q	+	1	0	ADARB1	45427736	0.846000	0.29590	0.995000	0.50966	0.998000	0.95712	1.022000	0.30052	0.809000	0.34255	0.655000	0.94253	CAG		0.378	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2		NM_015833		5	33	0	0	0	1	0	5	33		
MCM3AP	8888	broad.mit.edu	37	21	47663416	47663416	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:47663416C>T	ENST00000397708.1	-	25	5513	c.5259G>A	c.(5257-5259)ctG>ctA	p.L1753L	MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.L1753L|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1753	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCAGTCTCTCAGCTTGTGGT	0.552																																						uc002zir.1		NaN																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(5257-5259)CTG>CTA		minichromosome maintenance complex component 3							85.0	90.0	88.0					21																	47663416		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47663416C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5259G>A	21.37:g.47663416C>T						MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.L248L|MCM3AP_uc002zip.1_Silent_p.L494L|MCM3AP_uc002ziq.1_Silent_p.L680L|MCM3APAS_uc002zis.1_Intron	p.L1753L	NM_003906	NP_003897	O60318	MCM3A_HUMAN			24	5295	-	Breast(49;0.112)		1753					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.5259G>A	CCDS13734.1																																																																																				0.552	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1		NM_003906		31	153	0	0	0	1	0	31	153		
CDC45	8318	broad.mit.edu	37	22	19506422	19506422	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19506422C>A	ENST00000407835.1	+	19	1948	c.1692C>A	c.(1690-1692)ctC>ctA	p.L564L	CDC45_ENST00000404724.3_Silent_p.L518L|CDC45_ENST00000263201.1_Silent_p.L564L|CDC45_ENST00000437685.2_Silent_p.L596L			O75419	CDC45_HUMAN	cell division cycle 45	564					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TTATTTCCCTCCTGTCCTAGG	0.557																																						uc002zpr.2		NaN																	0				lung(1)	1						c.(1690-1692)CTC>CTA		CDC45-like							150.0	149.0	149.0					22																	19506422		2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19506422C>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1692C>A	22.37:g.19506422C>A						CDC45_uc011aha.1_Silent_p.L596L|CDC45_uc002zps.2_Silent_p.L565L|CDC45_uc002zpt.2_Silent_p.L518L	p.L564L	NM_003504	NP_003495	O75419	CDC45_HUMAN			18	1768	+			564					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.1692C>A	CCDS13762.1																																																																																				0.557	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1		NM_003504		22	66	1	0	1.55469e-16	1	1.77277e-16	22	66		
SEPT5	5413	broad.mit.edu	37	22	19709228	19709228	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19709228G>T	ENST00000455784.2	+	9	908	c.783G>T	c.(781-783)cgG>cgT	p.R261R	SEPT5_ENST00000383045.3_Silent_p.R270R|SEPT5_ENST00000438754.2_Silent_p.R270R|SEPT5_ENST00000406395.1_Silent_p.R261R|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	261	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AGCGGGTCCGGGGCCGACTGT	0.682																																						uc002zpv.1		NaN																	0				lung(1)	1						c.(781-783)CGG>CGT		septin 5							42.0	54.0	50.0					22																	19709228		2203	4299	6502	SO:0001819	synonymous_variant	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709228G>T	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.783G>T	22.37:g.19709228G>T						SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	p.R261R	NM_002688	NP_002679	Q99719	SEPT5_HUMAN			9	908	+	Colorectal(54;0.0993)		261					O15251|Q96MY5	Silent	SNP	ENST00000455784.2	37	c.783G>T	CCDS13764.1																																																																																				0.682	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1		NM_002688		16	40	1	0	4.7546e-09	1	5.20035e-09	16	40		
C22orf29	79680	broad.mit.edu	37	22	19839388	19839388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19839388G>A	ENST00000405640.1	-	2	1065	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.Q133*|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.Q133*|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000403325.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	133					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ATGTTGTCCTGATAGTGCTCA	0.622																																						uc002zqg.2		NaN																	0					0						c.(397-399)CAG>TAG		hypothetical protein LOC79680							82.0	90.0	87.0					22																	19839388		2203	4300	6503	SO:0001587	stop_gained	79680							g.chr22:19839388G>A	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.397C>T	22.37:g.19839388G>A	ENSP00000384924:p.Gln133*					GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Nonsense_Mutation_p.Q133*|C22orf29_uc002zqi.2_Nonsense_Mutation_p.Q133*|C22orf29_uc010grt.1_Intron	p.Q133*	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN			2	996	-	Colorectal(54;0.0993)		133					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Nonsense_Mutation	SNP	ENST00000405640.1	37	c.397C>T	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399437	0.62177	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	.	.	.	3.68	0.454	0.16644	.	0.684347	0.10864	U	0.625701	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	5.5225	0.16941	0.3685:0.0:0.6315:0.0	.	.	.	.	X	133	.	ENSP00000330596:Q133X	Q	-	1	0	C22orf29	18219388	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.037000	0.12164	0.164000	0.19529	-0.140000	0.14226	CAG		0.622	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2		NM_024627		18	88	0	0	0	1	0	18	88		
GGT1	2678	broad.mit.edu	37	22	25016336	25016336	+	Nonsense_Mutation	SNP	G	G	T	rs200015790		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:25016336G>T	ENST00000400382.1	+	8	1179	c.424G>T	c.(424-426)Gag>Tag	p.E142*	GGT1_ENST00000406383.2_Nonsense_Mutation_p.E142*|GGT1_ENST00000400380.1_Nonsense_Mutation_p.E142*|GGT1_ENST00000400383.1_Nonsense_Mutation_p.E142*|GGT1_ENST00000248923.4_Nonsense_Mutation_p.E142*			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	142					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCGAGGCTATGAGCTGGCACA	0.687																																						uc003aan.1		NaN																	0					0						c.(424-426)GAG>TAG		gamma-glutamyltransferase 1 precursor	Glutathione(DB00143)						12.0	14.0	13.0					22																	25016336		1754	3972	5726	SO:0001587	stop_gained	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25016336G>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.424G>T	22.37:g.25016336G>T	ENSP00000383232:p.Glu142*					GGT1_uc003aas.1_Nonsense_Mutation_p.E142*|GGT1_uc003aat.1_Nonsense_Mutation_p.E142*|GGT1_uc003aau.1_Nonsense_Mutation_p.E142*|GGT1_uc003aav.1_Nonsense_Mutation_p.E142*|GGT1_uc003aaw.1_Nonsense_Mutation_p.E142*|GGT1_uc003aax.1_Nonsense_Mutation_p.E142*	p.E142*	NM_013430	NP_038347	P19440	GGT1_HUMAN			8	911	+			142			Extracellular (Potential).		Q08247|Q14404|Q8TBS1|Q9UMK1	Nonsense_Mutation	SNP	ENST00000400382.1	37	c.424G>T	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	39	7.489644	0.98316	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	.	.	.	3.35	3.35	0.38373	.	0.064997	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	0.818	10.3241	0.43783	0.0:0.2013:0.7987:0.0	.	.	.	.	X	142	.	ENSP00000248923:E142X	E	+	1	0	GGT1	23346336	1.000000	0.71417	0.964000	0.40570	0.029000	0.11900	6.098000	0.71458	1.588000	0.49971	0.455000	0.32223	GAG		0.687	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1		NM_013430		5	26	1	0	0.000602214	1	0.000619927	5	26		
SGSM1	129049	broad.mit.edu	37	22	25297899	25297899	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:25297899G>A	ENST00000400359.4	+	21	2882	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K	SGSM1_ENST00000400358.4_Missense_Mutation_p.E904K|SNORD56_ENST00000362913.1_RNA	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	959	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGCCAACTTGGAGAAGCTGCG	0.622																																						uc003abg.2		NaN																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(2875-2877)GAG>AAG		RUN and TBC1 domain containing 2 isoform 1							36.0	33.0	34.0					22																	25297899		2203	4300	6503	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25297899G>A	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2875G>A	22.37:g.25297899G>A	ENSP00000383212:p.Glu959Lys					SGSM1_uc003abh.2_Missense_Mutation_p.E898K|SGSM1_uc010guu.1_Missense_Mutation_p.E904K|SGSM1_uc003abj.2_Missense_Mutation_p.E843K|SGSM1_uc003abi.1_Missense_Mutation_p.E879K	p.E959K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN			21	3032	+			959			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.2875G>A	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	35	5.569539	0.96540	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.11063	2.81;2.81	5.3	5.3	0.74995	Rab-GAP/TBC domain (4);	0.198826	0.52532	D	0.000067	T	0.17109	0.0411	L	0.59436	1.845	0.58432	D	0.999997	B;B;B;P	0.48998	0.001;0.095;0.23;0.918	B;B;B;B	0.43990	0.017;0.159;0.117;0.438	T	0.00880	-1.1529	10	0.39692	T	0.17	-40.3719	18.3272	0.90258	0.0:0.0:1.0:0.0	.	904;959;976;959	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	K	959;904;959	ENSP00000383211:E904K;ENSP00000383212:E959K	ENSP00000383211:E904K	E	+	1	0	SGSM1	23627899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.764000	0.98949	2.648000	0.89879	0.591000	0.81541	GAG		0.622	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1		XM_059318		9	4	0	0	0	1	0	9	4		
SF3A1	10291	broad.mit.edu	37	22	30733035	30733035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:30733035C>A	ENST00000215793.8	-	13	2240	c.2086G>T	c.(2086-2088)Gag>Tag	p.E696*	SF3A1_ENST00000439242.1_Nonsense_Mutation_p.E631*	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	696					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CGCAGGAACTCCTCCTCTGGC	0.557																																						uc003ahl.2		NaN																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(2086-2088)GAG>TAG		splicing factor 3a, subunit 1, 120kDa isoform 1							112.0	102.0	106.0					22																	30733035		2203	4300	6503	SO:0001587	stop_gained	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30733035C>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.2086G>T	22.37:g.30733035C>A	ENSP00000215793:p.Glu696*						p.E696*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			13	2218	-			696					E9PAW1	Nonsense_Mutation	SNP	ENST00000215793.8	37	c.2086G>T	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	39	7.908256	0.98554	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-21.5242	18.8699	0.92309	0.0:1.0:0.0:0.0	.	.	.	.	X	631;696;593	.	ENSP00000215793:E696X	E	-	1	0	SF3A1	29063035	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.275000	0.78548	2.687000	0.91594	0.655000	0.94253	GAG		0.557	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2		NM_005877		24	70	1	0	4.87955e-14	1	5.52899e-14	24	70		
PATZ1	23598	broad.mit.edu	37	22	31722980	31722980	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:31722980G>T	ENST00000266269.5	-	5	2590	c.1961C>A	c.(1960-1962)tCt>tAt	p.S654Y	PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.S608Y|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	654					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CTCGAGGAGAGACATGTTCTG	0.567																																						uc003akq.2		NaN																EWSR1/PATZ1(2)	0				soft_tissue(2)	2						c.(1960-1962)TCT>TAT		POZ (BTB) and AT hook containing zinc finger 1							64.0	67.0	66.0					22																	31722980		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31722980G>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1961C>A	22.37:g.31722980G>T	ENSP00000266269:p.Ser654Tyr					PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.S608Y	p.S654Y	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			5	2622	-			654					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1961C>A	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085603	0.76642	.	.	ENSG00000100105	ENST00000266269;ENST00000351933	T;T	0.13657	2.57;2.75	5.49	5.49	0.81192	.	0.404164	0.26684	N	0.023023	T	0.25644	0.0624	N	0.19112	0.55	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79784	0.991;0.993	T	0.05022	-1.0911	10	0.72032	D	0.01	-8.3339	18.3476	0.90327	0.0:0.0:1.0:0.0	.	608;654	Q9HBE1-3;Q9HBE1	.;PATZ1_HUMAN	Y	654;608	ENSP00000266269:S654Y;ENSP00000337520:S608Y	ENSP00000266269:S654Y	S	-	2	0	PATZ1	30052980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.158000	0.94723	2.569000	0.86673	0.585000	0.79938	TCT		0.567	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1		NM_032052		21	79	1	0	2.27731e-05	1	2.38323e-05	21	79		
C22orf24	25775	broad.mit.edu	37	22	32334043	32334043	+	Missense_Mutation	SNP	G	G	C	rs369138708		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:32334043G>C	ENST00000248984.3	-	2	176	c.10C>G	c.(10-12)Caa>Gaa	p.Q4E	C22orf24_ENST00000543051.1_Missense_Mutation_p.Q71E|C22orf24_ENST00000486651.1_5'UTR	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	4						integral component of membrane (GO:0016021)				central_nervous_system(1)|urinary_tract(1)	2						GTATCCTCTTGAGTTGTCATG	0.448																																						uc003aly.2		NaN																	0				central_nervous_system(1)	1						c.(10-12)CAA>GAA		hypothetical protein LOC25775		G	GLU/GLN	0,3954		0,0,1977	225.0	230.0	228.0		10	3.6	0.7	22		228	1,8331		0,1,4165	no	missense	C22orf24	NM_015372.1	29	0,1,6142	CC,CG,GG		0.012,0.0,0.0081	benign	4/161	32334043	1,12285	1977	4166	6143	SO:0001583	missense	25775					integral to membrane		g.chr22:32334043G>C		CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.10C>G	22.37:g.32334043G>C	ENSP00000248984:p.Gln4Glu					C22orf24_uc003alx.2_RNA	p.Q4E	NM_015372	NP_056187	Q9Y442	CV024_HUMAN			2	177	-			4					B2RCT4|Q5K3R1	Missense_Mutation	SNP	ENST00000248984.3	37	c.10C>G	CCDS46693.1	.	.	.	.	.	.	.	.	.	.	G	9.361	1.068065	0.20067	0.0	1.2E-4	ENSG00000128254	ENST00000248984;ENST00000543051	T;T	0.43688	0.94;0.94	3.61	3.61	0.41365	.	1.662290	0.04081	N	0.309566	T	0.38188	0.1031	N	0.08118	0	0.20196	N	0.999922	D	0.56035	0.974	P	0.51487	0.671	T	0.49312	-0.8953	10	0.87932	D	0	.	11.0311	0.47774	0.0:0.0:1.0:0.0	.	4	Q9Y442	CV024_HUMAN	E	4;71	ENSP00000248984:Q4E;ENSP00000437643:Q71E	ENSP00000248984:Q4E	Q	-	1	0	C22orf24	30664043	0.408000	0.25360	0.719000	0.30619	0.043000	0.13939	1.682000	0.37628	2.311000	0.77944	0.655000	0.94253	CAA		0.448	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075722.2		NM_015372		47	194	0	0	0	1	0	47	194		
APOL5	80831	broad.mit.edu	37	22	36123215	36123215	+	Missense_Mutation	SNP	G	G	C	rs201903384		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36123215G>C	ENST00000249044.2	+	3	1100	c.1100G>C	c.(1099-1101)cGa>cCa	p.R367P		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	367					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGGCTGTTCGAGGATCCCGT	0.607																																						uc003aof.2		NaN																	0					0						c.(1099-1101)CGA>CCA		apolipoprotein L5							40.0	44.0	43.0					22																	36123215		2200	4294	6494	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36123215G>C	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1100G>C	22.37:g.36123215G>C	ENSP00000249044:p.Arg367Pro						p.R367P	NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN			3	1100	+			367					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.1100G>C	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	8.165	0.790436	0.16258	.	.	ENSG00000128313	ENST00000249044	T	0.04454	3.62	2.04	-1.75	0.08031	.	14.714700	0.01640	U	0.023984	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	B	0.39738	0.308	T	0.31223	-0.9951	10	0.72032	D	0.01	.	5.4581	0.16602	0.6404:0.0:0.3596:0.0	.	367	Q9BWW9	APOL5_HUMAN	P	367	ENSP00000249044:R367P	ENSP00000249044:R367P	R	+	2	0	APOL5	34453161	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.218000	0.09240	-0.383000	0.07858	0.407000	0.27541	CGA		0.607	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1		NM_030642		9	52	0	0	0	1	0	9	52		
MYH9	4627	broad.mit.edu	37	22	36684830	36684830	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36684830C>A	ENST00000216181.5	-	33	4943	c.4713G>T	c.(4711-4713)cgG>cgT	p.R1571R	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1571					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTGCAGGTCCCGCTCGAACT	0.642			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(4711-4713)CGG>CGT		myosin, heavy polypeptide 9, non-muscle							143.0	129.0	134.0					22																	36684830		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36684830C>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4713G>T	22.37:g.36684830C>A							p.R1571R	NM_002473	NP_002464	P35579	MYH9_HUMAN			33	4944	-			1571			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.4713G>T	CCDS13927.1																																																																																				0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		22	139	1	0	2.27731e-05	1	2.38323e-05	22	139		
FOXRED2	80020	broad.mit.edu	37	22	36894043	36894043	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36894043C>T	ENST00000397224.4	-	6	1470	c.1377G>A	c.(1375-1377)ttG>ttA	p.L459L	FOXRED2_ENST00000397223.4_Silent_p.L459L|FOXRED2_ENST00000216187.6_Silent_p.L459L|FOXRED2_ENST00000366463.3_Silent_p.L11L	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	459					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCACTCCTTCAACAGGATGA	0.602																																						uc003apn.3		NaN																	0				lung(1)|kidney(1)	2						c.(1375-1377)TTG>TTA		FAD-dependent oxidoreductase domain containing 2							86.0	84.0	85.0					22																	36894043		2203	4300	6503	SO:0001819	synonymous_variant	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36894043C>T	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1377G>A	22.37:g.36894043C>T						FOXRED2_uc003apm.3_Silent_p.L11L|FOXRED2_uc003apo.3_Silent_p.L459L|FOXRED2_uc003app.3_Silent_p.L459L	p.L459L	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN			5	1485	-			459					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Silent	SNP	ENST00000397224.4	37	c.1377G>A	CCDS13929.1																																																																																				0.602	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2		NM_024955		19	53	0	0	0	1	0	19	53		
MICALL1	85377	broad.mit.edu	37	22	38323565	38323565	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:38323565C>G	ENST00000215957.6	+	9	1739	c.1613C>G	c.(1612-1614)tCa>tGa	p.S538*	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	538	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AAGAGCTCCTCAGAGCCTGCT	0.637																																						uc003aui.2		NaN																	0				breast(1)	1						c.(1612-1614)TCA>TGA		molecule interacting with Rab13							118.0	106.0	110.0					22																	38323565		2203	4300	6503	SO:0001587	stop_gained	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38323565C>G	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1613C>G	22.37:g.38323565C>G	ENSP00000215957:p.Ser538*						p.S538*	NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN			9	1697	+	Melanoma(58;0.045)		538			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Nonsense_Mutation	SNP	ENST00000215957.6	37	c.1613C>G	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113859	0.94339	.	.	ENSG00000100139	ENST00000215957	.	.	.	4.47	4.47	0.54385	.	0.565218	0.15951	N	0.236713	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.38	0.87402	0.0:1.0:0.0:0.0	.	.	.	.	X	538	.	ENSP00000215957:S538X	S	+	2	0	MICALL1	36653511	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.495000	0.66912	2.321000	0.78463	0.555000	0.69702	TCA		0.637	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4		NM_033386		14	69	0	0	0	1	0	14	69		
MICALL1	85377	broad.mit.edu	37	22	38323678	38323678	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:38323678C>G	ENST00000215957.6	+	9	1852	c.1726C>G	c.(1726-1728)Caa>Gaa	p.Q576E	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	576	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACAAATGCCTCAAGCCAGCCC	0.642																																						uc003aui.2		NaN																	0				breast(1)	1						c.(1726-1728)CAA>GAA		molecule interacting with Rab13							123.0	123.0	123.0					22																	38323678		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38323678C>G	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1726C>G	22.37:g.38323678C>G	ENSP00000215957:p.Gln576Glu						p.Q576E	NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN			9	1810	+	Melanoma(58;0.045)		576			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.1726C>G	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.21|13.21	2.167704|2.167704	0.38315|0.38315	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000215957;ENST00000402631|ENST00000454685	T;T|.	0.52754|.	0.65;1.97|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.708385|.	0.12653|.	N|.	0.450321|.	T|.	0.57946|.	0.2088|.	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	P|.	0.44090|.	0.826|.	B|.	0.43990|.	0.438|.	T|.	0.52215|.	-0.8605|.	10|.	0.28530|.	T|.	0.3|.	.|.	16.1109|16.1109	0.81263|0.81263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	576|.	Q8N3F8|.	MILK1_HUMAN|.	E|X	576;3|153	ENSP00000215957:Q576E;ENSP00000384608:Q3E|.	ENSP00000215957:Q576E|.	Q|S	+|+	1|2	0|0	MICALL1|MICALL1	36653624|36653624	0.470000|0.470000	0.25854|0.25854	0.042000|0.042000	0.18584|0.18584	0.062000|0.062000	0.15995|0.15995	5.236000|5.236000	0.65354|0.65354	2.295000|2.295000	0.77249|0.77249	0.555000|0.555000	0.69702|0.69702	CAA|TCA		0.642	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4		NM_033386		24	130	0	0	0	1	0	24	130		
APOBEC3D	140564	broad.mit.edu	37	22	39425374	39425374	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39425374G>A	ENST00000216099.8	+	5	1019	c.612G>A	c.(610-612)ccG>ccA	p.P204P	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.P204P	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	204					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TCAGAAACCCGATGGAGGCAA	0.522																																						uc011aoe.1		NaN																	0					0						c.(610-612)CCG>CCA		apolipoprotein B mRNA editing enzyme, catalytic							106.0	95.0	98.0					22																	39425374		1568	3582	5150	SO:0001819	synonymous_variant	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39425374G>A	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.612G>A	22.37:g.39425374G>A						APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Silent_p.P204P|APOBEC3D_uc010gxu.2_5'UTR	p.P204P	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN			5	666	+	Melanoma(58;0.04)		204					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	37	c.612G>A	CCDS46709.1																																																																																				0.522	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2		NM_152426		23	51	0	0	0	1	0	23	51		
APOBEC3G	60489	broad.mit.edu	37	22	39477087	39477087	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39477087C>T	ENST00000407997.3	+	3	678	c.321C>T	c.(319-321)ttC>ttT	p.F107F	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Silent_p.F107F	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	107					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TGGCCACGTTCCTGGCCGAGG	0.562																																						uc003awx.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(319-321)TTC>TTT		apolipoprotein B mRNA editing enzyme, catalytic							115.0	98.0	104.0					22																	39477087		2203	4300	6503	SO:0001819	synonymous_variant	60489				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39477087C>T	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.321C>T	22.37:g.39477087C>T						APOBEC3G_uc003awy.2_Silent_p.F40F	p.F107F	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN			3	663	+	Melanoma(58;0.04)		107					B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Silent	SNP	ENST00000407997.3	37	c.321C>T	CCDS13984.1																																																																																				0.562	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1		NM_021822		13	87	0	0	0	1	0	13	87		
RPL3	6122	broad.mit.edu	37	22	39710727	39710727	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39710727C>T	ENST00000216146.4	-	6	986	c.813G>A	c.(811-813)caG>caA	p.Q271Q	SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.Q219Q|SNORD83A_ENST00000386747.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	271					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	GGTAGCCTTTCTGCCCAGCGC	0.622																																						uc003axi.2		NaN																	0				breast(1)|kidney(1)	2						c.(811-813)CAG>CAA		ribosomal protein L3 isoform a							55.0	47.0	49.0					22																	39710727		2203	4300	6503	SO:0001819	synonymous_variant	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39710727C>T	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.813G>A	22.37:g.39710727C>T						RPL3_uc003axh.2_Silent_p.Q222Q|RPL3_uc003axj.2_Silent_p.Q119Q|RPL3_uc010gxx.2_Silent_p.Q219Q|RPL3_uc003axg.2_Silent_p.Q219Q|RPL3_uc003axk.1_Silent_p.Q119Q	p.Q271Q	NM_000967	NP_000958	P39023	RL3_HUMAN			6	881	-	Melanoma(58;0.04)		271					B2RDV9|Q15548|Q5I0G0	Silent	SNP	ENST00000216146.4	37	c.813G>A	CCDS13988.1																																																																																				0.622	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1		NM_000967		9	31	0	0	0	1	0	9	31		
CACNA1I	8911	broad.mit.edu	37	22	40058011	40058011	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:40058011C>T	ENST00000402142.3	+	17	2943	c.2943C>T	c.(2941-2943)agC>agT	p.S981S	CACNA1I_ENST00000400164.3_Silent_p.S946S|CACNA1I_ENST00000404898.1_Silent_p.S946S|CACNA1I_ENST00000407673.1_Silent_p.S946S|CACNA1I_ENST00000336649.4_Silent_p.S987S|CACNA1I_ENST00000401624.1_Silent_p.S981S	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	981					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGGCCGCAGCGCGGCCTGGG	0.721																																						uc003ayc.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(2941-2943)AGC>AGT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						3.0	4.0	4.0					22																	40058011		1445	3397	4842	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40058011C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2943C>T	22.37:g.40058011C>T						CACNA1I_uc003ayd.2_Silent_p.S946S|CACNA1I_uc003aye.2_Silent_p.S896S|CACNA1I_uc003ayf.2_Silent_p.S861S	p.S981S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			17	2943	+	Melanoma(58;0.0749)		981			Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.2943C>T	CCDS46710.1																																																																																				0.721	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1		NM_001003406		3	4	0	0	0	1	0	3	4		
WBP2NL	164684	broad.mit.edu	37	22	42422777	42422777	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:42422777C>G	ENST00000328823.9	+	6	553	c.522C>G	c.(520-522)gtC>gtG	p.V174V	WBP2NL_ENST00000543212.1_Silent_p.V100V	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	174					egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CAGTTATTGTCTATGGAGCCC	0.468																																						uc011ape.1		NaN																	0				ovary(2)	2						c.(520-522)GTC>GTG		WBP2 N-terminal like							73.0	86.0	82.0					22																	42422777		2203	4300	6503	SO:0001819	synonymous_variant	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42422777C>G	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.522C>G	22.37:g.42422777C>G						WBP2NL_uc003bbt.2_Silent_p.V174V|WBP2NL_uc011apk.1_Silent_p.V46V|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA	p.V174V	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN			7	538	+			174					A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Silent	SNP	ENST00000328823.9	37	c.522C>G	CCDS14029.1																																																																																				0.468	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1		NM_152613		51	85	0	0	0	1	0	51	85		
ARFGAP3	26286	broad.mit.edu	37	22	43230283	43230283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:43230283C>A	ENST00000263245.5	-	5	661	c.442G>T	c.(442-444)Gag>Tag	p.E148*	ARFGAP3_ENST00000437119.2_Nonsense_Mutation_p.E104*|ARFGAP3_ENST00000429508.2_Intron	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	148					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						AAATCTTCCTCCTTTGGTGGA	0.423																																					GBM(58;544 1030 21460 27159 48838)	uc003bdd.2		NaN																	0				breast(1)	1						c.(442-444)GAG>TAG		ADP-ribosylation factor GTPase activating							156.0	155.0	155.0					22																	43230283		2203	4300	6503	SO:0001587	stop_gained	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43230283C>A	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.442G>T	22.37:g.43230283C>A	ENSP00000263245:p.Glu148*					ARFGAP3_uc010gzf.2_Nonsense_Mutation_p.E104*|ARFGAP3_uc011apu.1_Intron	p.E148*	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN			5	662	-			148					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Nonsense_Mutation	SNP	ENST00000263245.5	37	c.442G>T	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781476	0.90282	.	.	ENSG00000242247	ENST00000263245;ENST00000437119	.	.	.	4.81	4.81	0.61882	.	0.309702	0.31020	N	0.008420	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.6513	0.88164	0.0:1.0:0.0:0.0	.	.	.	.	X	148;104	.	ENSP00000263245:E148X	E	-	1	0	ARFGAP3	41560227	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	4.765000	0.62271	2.486000	0.83907	0.650000	0.86243	GAG		0.423	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2		NM_014570		70	110	1	0	6.00099e-30	1	6.94967e-30	70	110		
TTLL1	25809	broad.mit.edu	37	22	43447825	43447825	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:43447825C>T	ENST00000266254.7	-	9	1200	c.960G>A	c.(958-960)ctG>ctA	p.L320L	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Intron	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	320	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GCCAGGGCTTCAGCTTGTCGT	0.572																																						uc003bdi.2		NaN																	0				skin(1)	1						c.(958-960)CTG>CTA		tubulin tyrosine ligase-like family, member 1							278.0	200.0	226.0					22																	43447825		2203	4300	6503	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43447825C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.960G>A	22.37:g.43447825C>T						TTLL1_uc010gzh.2_Intron|TTLL1_uc003bdj.2_Silent_p.L206L|TTLL1_uc003bdh.2_Silent_p.L282L	p.L320L	NM_012263	NP_036395	O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	9	1201	-		Ovarian(80;0.0694)	320			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.960G>A	CCDS14043.1																																																																																				0.572	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1		NM_012263		17	59	0	0	0	1	0	17	59		
SMC1B	27127	broad.mit.edu	37	22	45785753	45785753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:45785753G>A	ENST00000357450.4	-	10	1569	c.1570C>T	c.(1570-1572)Cat>Tat	p.H524Y	SMC1B_ENST00000404354.3_Missense_Mutation_p.H524Y	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	524	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGAATAGGATGACACAGGTCA	0.338																																						uc003bgc.2		NaN																	0				ovary(2)	2						c.(1570-1572)CAT>TAT		SMC1 structural maintenance of chromosomes							102.0	95.0	97.0					22																	45785753		1823	4090	5913	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45785753G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1570C>T	22.37:g.45785753G>A	ENSP00000350036:p.His524Tyr					SMC1B_uc003bgd.2_Missense_Mutation_p.H524Y|SMC1B_uc003bge.1_Missense_Mutation_p.H307Y	p.H524Y	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	10	1622	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	524			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1570C>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703230	0.88924	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.85773	-2.03;-2.03	5.39	5.39	0.77823	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000017	D	0.90109	0.6910	L	0.50333	1.59	0.80722	D	1	D;D;D	0.65815	0.995;0.98;0.98	D;P;P	0.64506	0.926;0.815;0.815	D	0.90410	0.4409	10	0.59425	D	0.04	.	19.1598	0.93526	0.0:0.0:1.0:0.0	.	524;524;524	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	Y	524	ENSP00000350036:H524Y;ENSP00000385902:H524Y	ENSP00000350036:H524Y	H	-	1	0	SMC1B	44164417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.532000	0.73825	2.530000	0.85305	0.655000	0.94253	CAT		0.338	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2		NM_148674		36	73	0	0	0	1	0	36	73		
WNT7B	7477	broad.mit.edu	37	22	46327115	46327115	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:46327115C>T	ENST00000339464.4	-	3	807	c.433G>A	c.(433-435)Gag>Aag	p.E145K	WNT7B_ENST00000410058.1_Missense_Mutation_p.E145K|WNT7B_ENST00000409496.3_Missense_Mutation_p.E149K|WNT7B_ENST00000410089.1_Missense_Mutation_p.E129K	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	145					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TTCCAGCCCTCGGCTTGGTTG	0.687																																						uc003bgo.2		NaN																	0				lung(1)	1						c.(433-435)GAG>AAG		wingless-type MMTV integration site family,							53.0	53.0	53.0					22																	46327115		2203	4300	6503	SO:0001583	missense	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46327115C>T	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.433G>A	22.37:g.46327115C>T	ENSP00000341032:p.Glu145Lys					WNT7B_uc010haa.2_Missense_Mutation_p.E149K	p.E145K	NM_058238	NP_478679	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	3	807	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	145					B8A596|Q96Q12	Missense_Mutation	SNP	ENST00000339464.4	37	c.433G>A	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	c	7.014	0.557306	0.13436	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	3.21	2.17	0.27698	.	0.000000	0.85682	U	0.000000	T	0.60170	0.2248	L	0.35414	1.06	0.52501	D	0.999956	B;B	0.28291	0.206;0.206	B;B	0.28139	0.067;0.086	T	0.50180	-0.8858	10	0.19590	T	0.45	.	11.2576	0.49063	0.0:0.813:0.187:0.0	.	149;145	A8K0G1;P56706	.;WNT7B_HUMAN	K	145;129;149;145	ENSP00000341032:E145K;ENSP00000386781:E129K;ENSP00000386546:E149K;ENSP00000387217:E145K	ENSP00000341032:E145K	E	-	1	0	WNT7B	44705779	1.000000	0.71417	0.903000	0.35520	0.152000	0.21847	4.355000	0.59424	0.545000	0.28902	0.306000	0.20318	GAG		0.687	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1		NM_058238		15	69	0	0	0	1	0	15	69		
PKDREJ	10343	broad.mit.edu	37	22	46655581	46655581	+	Silent	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:46655581A>G	ENST00000253255.5	-	1	3638	c.3639T>C	c.(3637-3639)caT>caC	p.H1213H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1213					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCCCCCGAAGATGCTGGTCCA	0.438																																						uc003bhh.2		NaN																	0				breast(3)|ovary(2)	5						c.(3637-3639)CAT>CAC		receptor for egg jelly-like protein precursor							116.0	117.0	116.0					22																	46655581		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655581A>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3639T>C	22.37:g.46655581A>G							p.H1213H	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3639	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1213			Cytoplasmic (Potential).		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.3639T>C	CCDS14073.1																																																																																				0.438	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1		NM_006071		24	117	0	0	0	1	0	24	117		
PLXNB2	23654	broad.mit.edu	37	22	50719197	50719197	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:50719197C>T	ENST00000449103.1	-	24	4109	c.3969G>A	c.(3967-3969)ctG>ctA	p.L1323L	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.L1323L			O15031	PLXB2_HUMAN	plexin B2	1323					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACTTGCTGTTCAGCAGGTTGG	0.657																																						uc003bkv.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3967-3969)CTG>CTA		plexin B2 precursor							36.0	37.0	37.0					22																	50719197		1939	4118	6057	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719197C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3969G>A	22.37:g.50719197C>T						PLXNB2_uc003bkt.1_Silent_p.L115L|PLXNB2_uc003bku.1_Silent_p.L308L	p.L1323L	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	24	4075	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1323			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.3969G>A	CCDS43035.1																																																																																				0.657	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401		8	29	0	0	0	1	0	8	29		
BHLHE40	8553	broad.mit.edu	37	3	5025300	5025300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:5025300C>T	ENST00000256495.3	+	5	1765	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	388					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CTTGCCAGCTCATCCGTCCGT	0.547																																						uc003bqf.2		NaN																	0				ovary(1)	1						c.(1162-1164)CAT>TAT		basic helix-loop-helix family, member e40							133.0	133.0	133.0					3																	5025300		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5025300C>T	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1162C>T	3.37:g.5025300C>T	ENSP00000256495:p.His388Tyr					BHLHE40_uc011asw.1_Missense_Mutation_p.H248Y	p.H388Y	NM_003670	NP_003661	O14503	BHE40_HUMAN			5	1469	+			388					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.1162C>T	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012168	0.35511	.	.	ENSG00000134107	ENST00000256495	T	0.41400	1.0	5.51	5.51	0.81932	.	0.443132	0.27591	N	0.018687	T	0.43787	0.1263	L	0.47716	1.5	0.09310	N	0.999992	P	0.47191	0.891	P	0.45610	0.487	T	0.45818	-0.9235	10	0.66056	D	0.02	.	14.6094	0.68504	0.0:0.8542:0.1458:0.0	.	388	O14503	BHE40_HUMAN	Y	388	ENSP00000256495:H388Y	ENSP00000256495:H388Y	H	+	1	0	BHLHE40	5000300	1.000000	0.71417	0.078000	0.20375	0.039000	0.13416	6.974000	0.76122	2.589000	0.87451	0.655000	0.94253	CAT		0.547	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2		NM_003670		67	84	0	0	0	1	0	67	84		
RPL32	6161	broad.mit.edu	37	3	12877707	12877707	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:12877707C>T	ENST00000429711.2	-	4	393	c.294G>A	c.(292-294)gaG>gaA	p.E98E	RPL32_ENST00000273223.6_Silent_p.E116E|RPL32_ENST00000396953.2_Silent_p.E98E|RPL32_ENST00000396957.1_Silent_p.E98E|RPL32_ENST00000435983.1_Silent_p.E98E	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	98					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGTGAGCGATCTCGGCACAGT	0.522																																						uc003bxl.2		NaN																	0				ovary(1)	1						c.(292-294)GAG>GAA		ribosomal protein L32							67.0	57.0	60.0					3																	12877707		2203	4300	6503	SO:0001819	synonymous_variant	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12877707C>T	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.294G>A	3.37:g.12877707C>T						RPL32_uc003bxm.2_Silent_p.E98E|RPL32_uc003bxn.2_Silent_p.E98E	p.E98E	NM_001007074	NP_001007075	P62910	RL32_HUMAN			3	507	-			98					B2R4Q3|P02433	Silent	SNP	ENST00000429711.2	37	c.294G>A	CCDS2614.1																																																																																				0.522	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2		NM_000994		37	45	0	0	0	1	0	37	45		
FBLN2	2199	broad.mit.edu	37	3	13670693	13670693	+	Missense_Mutation	SNP	C	C	T	rs372540399		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:13670693C>T	ENST00000295760.7	+	12	2671	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	FBLN2_ENST00000404922.3_Missense_Mutation_p.R915C|FBLN2_ENST00000535798.1_Missense_Mutation_p.R894C|FBLN2_ENST00000492059.1_Missense_Mutation_p.R915C	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	868	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGGTGTGCACCGCTGCGGTGA	0.652																																						uc011avb.1		NaN																	0				ovary(1)	1						c.(2602-2604)CGC>TGC		fibulin 2 isoform b precursor		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4228		0,0,2114	44.0	49.0	47.0		2743,2743,2602	4.0	0.9	3		47	1,8455		0,1,4227	no	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	180,180,180	0,1,6341	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging	915/1232,915/1232,868/1185	13670693	1,12683	2114	4228	6342	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670693C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2602C>T	3.37:g.13670693C>T	ENSP00000295760:p.Arg868Cys					FBLN2_uc011auz.1_Missense_Mutation_p.R894C|FBLN2_uc011ava.1_Missense_Mutation_p.R915C|FBLN2_uc011avc.1_Missense_Mutation_p.R915C	p.R868C	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		12	2727	+			868			EGF-like 6; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2602C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030151	0.75504	0.0	1.18E-4	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.92199	-2.99;-2.99;-2.27;-2.99	4.91	4.0	0.46444	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.584438	0.17616	N	0.167885	D	0.92987	0.7768	L	0.38692	1.165	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;P;P	0.68192	0.956;0.857;0.901	D	0.92261	0.5817	10	0.62326	D	0.03	.	12.1473	0.54029	0.3116:0.6884:0.0:0.0	.	868;915;894	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	C	894;915;868;915	ENSP00000445705:R894C;ENSP00000384169:R915C;ENSP00000295760:R868C;ENSP00000420042:R915C	ENSP00000295760:R868C	R	+	1	0	FBLN2	13645694	1.000000	0.71417	0.934000	0.37439	0.969000	0.65631	3.146000	0.50631	0.995000	0.38917	0.655000	0.94253	CGC		0.652	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3		NM_001004019		12	46	0	0	0	1	0	12	46		
XPC	7508	broad.mit.edu	37	3	14190071	14190071	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:14190071G>A	ENST00000285021.7	-	13	2625	c.2411C>T	c.(2410-2412)tCc>tTc	p.S804F	AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.S767F|AC093495.4_ENST00000428681.3_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	804	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACGGGATGGGAGTAGCCGCC	0.612			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc011ave.1		NaN	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	Mis|N|F|S	"""xeroderma pigmentosum, complementation group C"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|breast(1)	3						c.(2410-2412)TCC>TTC	NER	xeroderma pigmentosum, complementation group C							57.0	58.0	58.0					3																	14190071		1984	4160	6144	SO:0001583	missense	7508	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14190071G>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2411C>T	3.37:g.14190071G>A	ENSP00000285021:p.Ser804Phe					XPC_uc011avf.1_Missense_Mutation_p.S611F|XPC_uc011avg.1_Missense_Mutation_p.S767F	p.S804F	NM_004628	NP_004619	Q01831	XPC_HUMAN			13	2515	-			804			DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.2411C>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024882	0.75390	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.37752	1.18;1.2	5.79	0.575	0.17374	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.346376	0.31156	N	0.008147	T	0.56673	0.2001	M	0.79123	2.44	0.47214	D	0.999356	P;P	0.52463	0.953;0.953	P;P	0.57009	0.811;0.811	T	0.67181	-0.5735	10	0.59425	D	0.04	-4.7066	19.9274	0.97108	0.0:0.5748:0.4252:0.0	.	767;804	E9PH69;Q01831	.;XPC_HUMAN	F	804;767	ENSP00000285021:S804F;ENSP00000404002:S767F	ENSP00000285021:S804F	S	-	2	0	XPC	14165072	1.000000	0.71417	0.978000	0.43139	0.801000	0.45260	3.738000	0.55067	-0.175000	0.10725	0.563000	0.77884	TCC		0.612	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3		NM_004628		5	54	0	0	0	1	0	5	54		
EAF1	85403	broad.mit.edu	37	3	15477906	15477906	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:15477906C>G	ENST00000396842.2	+	5	1009	c.584C>G	c.(583-585)tCt>tGt	p.S195C	EAF1-AS1_ENST00000595975.1_RNA|EAF1-AS1_ENST00000595627.1_RNA|EAF1-AS1_ENST00000594820.1_RNA|EAF1-AS1_ENST00000596371.1_RNA|EAF1-AS1_ENST00000608780.1_RNA|EAF1-AS1_ENST00000593876.1_RNA|EAF1-AS1_ENST00000609310.1_RNA|EAF1-AS1_ENST00000494875.3_RNA|EAF1_ENST00000432764.2_Missense_Mutation_p.S94C|EAF1-AS1_ENST00000597949.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	195	Necessary for transactivation activity.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ELL-EAF complex (GO:0032783)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GGGAGCAGCTCTTCAGACTCT	0.532																																						uc003bzu.2		NaN																	0				central_nervous_system(1)	1						c.(583-585)TCT>TGT		ELL associated factor 1							51.0	51.0	51.0					3																	15477906		2203	4300	6503	SO:0001583	missense	85403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding	g.chr3:15477906C>G	AF272973	CCDS2626.1	3p25.1	2011-06-10			ENSG00000144597	ENSG00000144597			20907	protein-coding gene	gene with protein product		608315				11418481	Standard	NM_033083		Approved		uc003bzu.3	Q96JC9	OTTHUMG00000162544	ENST00000396842.2:c.584C>G	3.37:g.15477906C>G	ENSP00000380054:p.Ser195Cys					EAF1_uc011avq.1_Missense_Mutation_p.S94C	p.S195C	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN			5	807	+			195			Ser-rich.|Necessary for transactivation activity.		B4E3F5|Q8IW10	Missense_Mutation	SNP	ENST00000396842.2	37	c.584C>G	CCDS2626.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734228	0.89482	.	.	ENSG00000144597	ENST00000396842;ENST00000432764	.	.	.	5.67	5.67	0.87782	.	0.097230	0.64402	D	0.000001	T	0.78007	0.4216	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.76071	0.987;0.575	T	0.79004	-0.1980	9	0.72032	D	0.01	-10.2047	18.5449	0.91043	0.0:1.0:0.0:0.0	.	94;195	B4E3F5;Q96JC9	.;EAF1_HUMAN	C	195;94	.	ENSP00000380054:S195C	S	+	2	0	EAF1	15452910	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.482000	0.81143	2.673000	0.90976	0.555000	0.69702	TCT		0.532	EAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252100.4		NM_033083		35	22	0	0	0	1	0	35	22		
EAF1	85403	broad.mit.edu	37	3	15477986	15477986	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:15477986C>T	ENST00000396842.2	+	5	1089	c.664C>T	c.(664-666)Ccg>Tcg	p.P222S	EAF1-AS1_ENST00000595975.1_RNA|EAF1-AS1_ENST00000595627.1_RNA|EAF1-AS1_ENST00000594820.1_RNA|EAF1-AS1_ENST00000596371.1_RNA|EAF1-AS1_ENST00000608780.1_RNA|EAF1-AS1_ENST00000593876.1_RNA|EAF1-AS1_ENST00000609310.1_RNA|EAF1-AS1_ENST00000494875.3_RNA|EAF1_ENST00000432764.2_Missense_Mutation_p.P121S|EAF1-AS1_ENST00000597949.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	222	Necessary for transactivation activity.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ELL-EAF complex (GO:0032783)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						AGCCTCTCCTCCGCAGCCTTC	0.587																																						uc003bzu.2		NaN																	0				central_nervous_system(1)	1						c.(664-666)CCG>TCG		ELL associated factor 1							56.0	50.0	53.0					3																	15477986		2203	4300	6503	SO:0001583	missense	85403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding	g.chr3:15477986C>T	AF272973	CCDS2626.1	3p25.1	2011-06-10			ENSG00000144597	ENSG00000144597			20907	protein-coding gene	gene with protein product		608315				11418481	Standard	NM_033083		Approved		uc003bzu.3	Q96JC9	OTTHUMG00000162544	ENST00000396842.2:c.664C>T	3.37:g.15477986C>T	ENSP00000380054:p.Pro222Ser					EAF1_uc011avq.1_Missense_Mutation_p.P121S	p.P222S	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN			5	887	+			222			Necessary for transactivation activity.		B4E3F5|Q8IW10	Missense_Mutation	SNP	ENST00000396842.2	37	c.664C>T	CCDS2626.1	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217485	0.22373	.	.	ENSG00000144597	ENST00000396842;ENST00000432764	.	.	.	5.56	0.662	0.17880	.	0.267680	0.37906	N	0.001897	T	0.04634	0.0126	N	0.01048	-1.04	0.09310	N	1	B;B	0.30634	0.288;0.0	B;B	0.28709	0.093;0.0	T	0.31724	-0.9933	9	0.05620	T	0.96	-3.5387	1.332	0.02137	0.1967:0.2415:0.3899:0.1719	.	121;222	B4E3F5;Q96JC9	.;EAF1_HUMAN	S	222;121	.	ENSP00000380054:P222S	P	+	1	0	EAF1	15452990	0.102000	0.21896	0.025000	0.17156	0.927000	0.56198	0.687000	0.25407	0.630000	0.30394	0.555000	0.69702	CCG		0.587	EAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252100.4		NM_033083		68	39	0	0	0	1	0	68	39		
NEK10	152110	broad.mit.edu	37	3	27233641	27233641	+	Missense_Mutation	SNP	G	G	C	rs372172518		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:27233641G>C	ENST00000429845.2	-	27	2746	c.2384C>G	c.(2383-2385)tCt>tGt	p.S795C	NEK10_ENST00000383770.3_Missense_Mutation_p.S107C|NEK10_ENST00000357467.2_Missense_Mutation_p.S192C|NEK10_ENST00000295720.6_Missense_Mutation_p.S107C|NEK10_ENST00000383771.4_Missense_Mutation_p.S107C|NEK10_ENST00000498182.1_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	795					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGGGATGTAGATAAGTTGTC	0.433																																						uc010hfk.2		NaN																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(319-321)TCT>TGT		RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;							208.0	182.0	191.0					3																	27233641		2203	4300	6503	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27233641G>C	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2384C>G	3.37:g.27233641G>C	ENSP00000395849:p.Ser795Cys					NEK10_uc003cds.1_Missense_Mutation_p.S192C|NEK10_uc010hfj.2_Missense_Mutation_p.S107C	p.S107C			Q6ZWH5	NEK10_HUMAN			5	549	-			795					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.320C>G		.	.	.	.	.	.	.	.	.	.	G	10.82	1.457103	0.26161	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	T;T;T;T	0.51574	0.7;0.7;0.7;1.01	5.91	4.09	0.47781	.	.	.	.	.	T	0.38558	0.1045	.	.	.	0.28137	N	0.929946	B;B;B	0.27117	0.168;0.058;0.02	B;B;B	0.29785	0.107;0.046;0.016	T	0.28202	-1.0051	8	0.36615	T	0.2	.	11.4046	0.49889	0.0681:0.1267:0.8052:0.0	.	107;107;192	Q6ZWH5-5;Q6ZWH5-7;Q8N774	.;.;.	C	107;107;107;192	ENSP00000295720:S107C;ENSP00000373281:S107C;ENSP00000373280:S107C;ENSP00000350059:S192C	ENSP00000295720:S107C	S	-	2	0	NEK10	27208645	0.996000	0.38824	0.989000	0.46669	0.674000	0.39518	1.920000	0.40025	0.811000	0.34303	0.655000	0.94253	TCT		0.433	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1		NM_152534		29	69	0	0	0	1	0	29	69		
UBP1	7342	broad.mit.edu	37	3	33467109	33467109	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:33467109C>T	ENST00000283629.3	-	2	767	c.238G>A	c.(238-240)Gat>Aat	p.D80N	UBP1_ENST00000447368.2_Missense_Mutation_p.D80N|UBP1_ENST00000283628.5_Missense_Mutation_p.D80N	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	80					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						AGCGTTTCATCATGCAGTTTT	0.403																																						uc003cfq.3		NaN																	0				kidney(2)	2						c.(238-240)GAT>AAT		upstream binding protein 1 (LBP-1a) isoform a							86.0	72.0	77.0					3																	33467109		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33467109C>T	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.238G>A	3.37:g.33467109C>T	ENSP00000283629:p.Asp80Asn					UBP1_uc003cfr.3_Missense_Mutation_p.D80N|UBP1_uc010hga.2_Missense_Mutation_p.D80N	p.D80N	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN			2	768	-			80					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.238G>A	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.864669	0.97043	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.92	5.92	0.95590	CP2 transcription factor (1);	0.098933	0.64402	D	0.000002	T	0.49236	0.1545	M	0.76838	2.35	0.80722	D	1	P;P	0.48764	0.873;0.915	P;P	0.60473	0.544;0.875	T	0.44787	-0.9305	10	0.87932	D	0	-16.8223	20.33	0.98713	0.0:1.0:0.0:0.0	.	80;80	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	N	80	ENSP00000283629:D80N;ENSP00000395558:D80N;ENSP00000283628:D80N;ENSP00000401614:D80N	ENSP00000283628:D80N	D	-	1	0	UBP1	33442113	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.818000	0.86416	2.810000	0.96702	0.585000	0.79938	GAT		0.403	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2		NM_014517		17	18	0	0	0	1	0	17	18		
ITGA9	3680	broad.mit.edu	37	3	37574872	37574872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:37574872C>T	ENST00000264741.5	+	14	1697	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	ITGA9_ENST00000422441.1_Nonsense_Mutation_p.Q481*	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	481					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CACAGCGCCTCAGTGTCACGA	0.557																																						uc003chd.2		NaN																	0				breast(3)|pancreas(1)|lung(1)|skin(1)	6						c.(1441-1443)CAG>TAG		integrin, alpha 9 precursor							113.0	84.0	94.0					3																	37574872		2203	4300	6503	SO:0001587	stop_gained	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37574872C>T	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1441C>T	3.37:g.37574872C>T	ENSP00000264741:p.Gln481*					ITGA9_uc003chc.2_Nonsense_Mutation_p.Q481*	p.Q481*	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	14	1494	+			481			Extracellular (Potential).		Q14638	Nonsense_Mutation	SNP	ENST00000264741.5	37	c.1441C>T	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	C	42	9.515596	0.99192	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	481	.	ENSP00000264741:Q481X	Q	+	1	0	ITGA9	37549876	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.718000	0.84743	2.884000	0.98904	0.655000	0.94253	CAG		0.557	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1		NM_002207		9	34	0	0	0	1	0	9	34		
DLEC1	9940	broad.mit.edu	37	3	38139354	38139354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:38139354G>A	ENST00000308059.6	+	18	2706	c.2685G>A	c.(2683-2685)atG>atA	p.M895I	DLEC1_ENST00000346219.3_Missense_Mutation_p.M895I|DLEC1_ENST00000452631.2_Missense_Mutation_p.M895I					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATGGCGCATGAAGGAGAGCC	0.597																																						uc003cho.1		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(2683-2685)ATG>ATA		deleted in lung and esophageal cancer 1 isoform							55.0	61.0	59.0					3																	38139354		2144	4262	6406	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139354G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2685G>A	3.37:g.38139354G>A	ENSP00000308597:p.Met895Ile					DLEC1_uc003chp.1_Missense_Mutation_p.M895I|DLEC1_uc010hgv.1_Missense_Mutation_p.M895I|DLEC1_uc003chr.1_Missense_Mutation_p.M1I|DLEC1_uc010hgx.1_RNA	p.M895I	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	18	2706	+			895						Missense_Mutation	SNP	ENST00000308059.6	37	c.2685G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960304	0.34565	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04275	3.68;3.66;3.9	5.16	1.95	0.26073	.	0.634744	0.15369	N	0.265977	T	0.04815	0.0130	L	0.43923	1.385	0.09310	N	1	B;B;B;B	0.18610	0.029;0.005;0.013;0.029	B;B;B;B	0.13407	0.009;0.006;0.008;0.009	T	0.36114	-0.9761	9	.	.	.	-5.5793	9.081	0.36552	0.0:0.1362:0.6168:0.247	.	895;895;895;895	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	I	895	ENSP00000308597:M895I;ENSP00000315914:M895I;ENSP00000410427:M895I	.	M	+	3	0	DLEC1	38114358	0.999000	0.42202	0.024000	0.17045	0.208000	0.24298	3.659000	0.54489	1.136000	0.42199	0.462000	0.41574	ATG		0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3		NM_007337		13	51	0	0	0	1	0	13	51		
SLC22A14	9389	broad.mit.edu	37	3	38359724	38359724	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:38359724C>G	ENST00000273173.4	+	10	1860	c.1769C>G	c.(1768-1770)tCa>tGa	p.S590*	SLC22A14_ENST00000448498.1_Nonsense_Mutation_p.S590*	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	590					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		AAGGAAACATCATCTGATGAT	0.488																																						uc010hhc.1		NaN																	0					0						c.(1768-1770)TCA>TGA		organic cation transporter like 4							156.0	156.0	156.0					3																	38359724		2203	4300	6503	SO:0001587	stop_gained	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38359724C>G	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1769C>G	3.37:g.38359724C>G	ENSP00000273173:p.Ser590*					SLC22A14_uc003cib.2_Nonsense_Mutation_p.S590*|SLC22A14_uc011ayo.1_RNA	p.S590*	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	11	1811	+			590			Cytoplasmic (Potential).		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Nonsense_Mutation	SNP	ENST00000273173.4	37	c.1769C>G	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972804	0.34848	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	.	.	.	4.45	-8.9	0.00782	.	9.846450	0.00166	U	0.000001	.	.	.	.	.	.	0.21355	N	0.999719	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	6.096	0.20021	0.1731:0.1108:0.0859:0.6301	.	.	.	.	X	590;575;590	.	ENSP00000273173:S590X	S	+	2	0	SLC22A14	38334728	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.368000	0.02580	-3.425000	0.00166	-0.302000	0.09304	TCA		0.488	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3		NM_004803		21	109	0	0	0	1	0	21	109		
EIF1B	10289	broad.mit.edu	37	3	40352532	40352532	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:40352532G>A	ENST00000232905.3	+	2	438	c.180G>A	c.(178-180)gtG>gtA	p.V60V	ENTPD3-AS1_ENST00000439293.1_RNA	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	60					regulation of translational initiation (GO:0006446)		poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AGAAACTTGTGAAAGCTTTCA	0.398																																						uc003ckc.2		NaN																	0					0						c.(178-180)GTG>GTA		translation factor sui1 homolog							65.0	65.0	65.0					3																	40352532		2203	4300	6503	SO:0001819	synonymous_variant	10289				regulation of translational initiation		protein binding|translation initiation factor activity	g.chr3:40352532G>A	BC006996	CCDS2690.1	3p22.1	2006-02-03			ENSG00000114784	ENSG00000114784			30792	protein-coding gene	gene with protein product						7904817	Standard	NM_005875		Approved	GC20	uc003ckc.3	O60739	OTTHUMG00000131388	ENST00000232905.3:c.180G>A	3.37:g.40352532G>A						uc003ckb.2_5'Flank	p.V60V	NM_005875	NP_005866	O60739	EIF1B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	2	440	+			60					Q9UQF8	Silent	SNP	ENST00000232905.3	37	c.180G>A	CCDS2690.1																																																																																				0.398	EIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254177.1		NM_005875		12	76	0	0	0	1	0	12	76		
LARS2	23395	broad.mit.edu	37	3	45441783	45441783	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:45441783C>G	ENST00000415258.1	+	3	422	c.281C>G	c.(280-282)tCt>tGt	p.S94C	LARS2_ENST00000265537.3_Missense_Mutation_p.S94C|LARS2_ENST00000414984.1_Intron			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	94					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCTTATCCTTCTGGTAAGCTG	0.463																																						uc003cop.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(280-282)TCT>TGT		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						152.0	133.0	140.0					3																	45441783		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45441783C>G	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.281C>G	3.37:g.45441783C>G	ENSP00000408576:p.Ser94Cys					LARS2_uc010hit.1_Intron	p.S94C	NM_015340	NP_056155	Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	4	466	+			94			HIGH region.			Missense_Mutation	SNP	ENST00000415258.1	37	c.281C>G	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398495	0.83120	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000430399	T;T;T	0.79749	-1.3;-1.3;1.65	5.6	4.73	0.59995	Aminoacyl-tRNA synthetase, class I, conserved site (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.053822	0.85682	D	0.000000	D	0.93423	0.7902	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95511	0.8586	10	0.87932	D	0	-20.2067	14.518	0.67833	0.0:0.9295:0.0:0.0705	.	94	Q15031	SYLM_HUMAN	C	94	ENSP00000265537:S94C;ENSP00000408576:S94C;ENSP00000401388:S94C	ENSP00000265537:S94C	S	+	2	0	LARS2	45416787	1.000000	0.71417	0.389000	0.26208	0.910000	0.53928	7.397000	0.79903	1.384000	0.46424	0.644000	0.83932	TCT		0.463	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1		NM_015340		34	79	0	0	0	1	0	34	79		
LZTFL1	54585	broad.mit.edu	37	3	45872601	45872601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:45872601C>G	ENST00000296135.6	-	6	660	c.486G>C	c.(484-486)gaG>gaC	p.E162D	LZTFL1_ENST00000536047.1_Missense_Mutation_p.E145D|LZTFL1_ENST00000539217.1_Missense_Mutation_p.E158D|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	162	Interaction with BSS9.				establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACTTCAATTTCTCATTCTCTT	0.254																																						uc003cox.1		NaN																	0					0						c.(484-486)GAG>GAC		leucine zipper transcription factor-like 1							66.0	62.0	64.0					3																	45872601		2201	4298	6499	SO:0001583	missense	54585							g.chr3:45872601C>G	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.486G>C	3.37:g.45872601C>G	ENSP00000296135:p.Glu162Asp					LZTFL1_uc003coy.1_Missense_Mutation_p.E145D|LZTFL1_uc011bak.1_RNA	p.E162D	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	6	624	-			162			Potential.		B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	ENST00000296135.6	37	c.486G>C	CCDS2731.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877622	0.33162	.	.	ENSG00000163818	ENST00000296135;ENST00000536047;ENST00000539217	T;T;T	0.24538	1.85;1.85;1.85	5.78	2.96	0.34315	.	0.047452	0.85682	D	0.000000	T	0.16514	0.0397	L	0.39633	1.23	0.38300	D	0.942961	B	0.16166	0.016	B	0.17979	0.02	T	0.10109	-1.0644	10	0.26408	T	0.33	-29.4086	3.8639	0.09007	0.1772:0.535:0.0:0.2878	.	162	Q9NQ48	LZTL1_HUMAN	D	162;145;158	ENSP00000296135:E162D;ENSP00000439522:E145D;ENSP00000441784:E158D	ENSP00000296135:E162D	E	-	3	2	LZTFL1	45847605	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.499000	0.22546	1.411000	0.46957	0.655000	0.94253	GAG		0.254	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3		NM_020347		6	31	0	0	0	1	0	6	31		
SCAP	22937	broad.mit.edu	37	3	47459204	47459204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:47459204G>C	ENST00000265565.5	-	17	2972	c.2560C>G	c.(2560-2562)Ctg>Gtg	p.L854V	SCAP_ENST00000441517.2_Missense_Mutation_p.L598V|SCAP_ENST00000545718.1_Missense_Mutation_p.L461V|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	854	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGGTGTCTCAGGGGAGGGCTG	0.657																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1		NaN																	0				ovary(1)	1						c.(2560-2562)CTG>GTG		SREBF chaperone protein							15.0	19.0	18.0					3																	47459204		2177	4285	6462	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47459204G>C	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2560C>G	3.37:g.47459204G>C	ENSP00000265565:p.Leu854Val					SCAP_uc011baz.1_Missense_Mutation_p.L598V|SCAP_uc003crg.2_Missense_Mutation_p.L461V	p.L854V	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	17	2815	-			854			Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.2560C>G	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	g	11.04	1.520882	0.27211	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.80033	-1.33;-1.31;0.83	4.74	2.9	0.33743	.	0.376195	0.22367	N	0.060991	T	0.69097	0.3073	L	0.32530	0.975	0.27690	N	0.94613	B;B	0.12630	0.006;0.004	B;B	0.09377	0.004;0.002	T	0.59736	-0.7398	10	0.34782	T	0.22	-13.7153	10.8629	0.46837	0.159:0.0:0.841:0.0	.	598;854	F8W921;Q12770	.;SCAP_HUMAN	V	480;854;598;461	ENSP00000265565:L854V;ENSP00000416847:L598V;ENSP00000438956:L461V	ENSP00000265565:L854V	L	-	1	2	SCAP	47434208	0.147000	0.22687	0.640000	0.29408	0.393000	0.30537	0.651000	0.24873	1.220000	0.43490	0.556000	0.70494	CTG		0.657	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2		NM_012235		5	15	0	0	0	1	0	5	15		
P4HTM	54681	broad.mit.edu	37	3	49040020	49040020	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49040020G>T	ENST00000383729.4	+	4	1086	c.715G>T	c.(715-717)Gat>Tat	p.D239Y	P4HTM_ENST00000343546.4_Missense_Mutation_p.D239Y	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	239	EF-hand 2.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GGCTGACCCTGATGGTGACGG	0.562																																						uc003cvg.2		NaN																	0				skin(1)|pancreas(1)	2						c.(715-717)GAT>TAT		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						174.0	149.0	158.0					3																	49040020		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49040020G>T		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.715G>T	3.37:g.49040020G>T	ENSP00000373235:p.Asp239Tyr					P4HTM_uc003cvh.2_Missense_Mutation_p.D239Y|P4HTM_uc010hkm.1_Missense_Mutation_p.D125Y	p.D239Y	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			4	1064	+			239			Lumenal (Potential).|EF-hand 2.|2 (Potential).		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.715G>T	CCDS43089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.78|19.78	3.891990|3.891990	0.72524|0.72524	.|.	.|.	ENSG00000178467|ENSG00000178467	ENST00000383729;ENST00000343546|ENST00000444213	D|.	0.85773|.	-2.03|.	5.52|5.52	4.65|4.65	0.58169|0.58169	EF-hand-like domain (1);Prolyl 4-hydroxylase, alpha subunit (1);|.	0.212890|.	0.47852|.	D|.	0.000202|.	D|.	0.86326|.	0.5906|.	H|H	0.95574|0.95574	3.69|3.69	0.51482|0.51482	D|D	0.999924|0.999924	D;D;D|.	0.89917|.	1.0;1.0;0.997|.	D;D;D|.	0.70935|.	0.971;0.939;0.916|.	D|.	0.90228|.	0.4277|.	10|.	0.66056|.	D|.	0.02|.	-13.0372|-13.0372	14.1228|14.1228	0.65201|0.65201	0.0719:0.0:0.9281:0.0|0.0719:0.0:0.9281:0.0	.|.	239;239;239|.	Q9NXG6-2;Q9NXG6-3;Q9NXG6|.	.;.;P4HTM_HUMAN|.	Y|L	239|168	ENSP00000373235:D239Y|.	ENSP00000341422:D239Y|.	D|X	+|+	1|2	0|2	P4HTM|P4HTM	49015024|49015024	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.926000|0.926000	0.56050|0.56050	5.395000|5.395000	0.66291|0.66291	1.348000|1.348000	0.45733|0.45733	0.563000|0.563000	0.77884|0.77884	GAT|TGA		0.562	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1		NM_177938		13	72	1	0	2.27111e-07	1	2.43748e-07	13	72		
DALRD3	55152	broad.mit.edu	37	3	49054900	49054900	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49054900T>C	ENST00000341949.4	-	4	771	c.765A>G	c.(763-765)ctA>ctG	p.L255L	DALRD3_ENST00000440857.1_Silent_p.L88L|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000441576.2_Silent_p.L255L|DALRD3_ENST00000395462.4_Silent_p.L88L|DALRD3_ENST00000313778.5_Silent_p.L88L|NDUFAF3_ENST00000326912.4_5'Flank	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	255					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCAATGCCATAGAGCCTCTT	0.527																																						uc003cvk.1		NaN																	0					0						c.(763-765)CTA>CTG		DALR anticodon binding domain containing 3							56.0	58.0	58.0					3																	49054900		2203	4300	6503	SO:0001819	synonymous_variant	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49054900T>C	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.765A>G	3.37:g.49054900T>C						DALRD3_uc003cvl.1_Silent_p.L255L|DALRD3_uc003cvm.1_Silent_p.L88L|DALRD3_uc010hko.1_Silent_p.L88L|DALRD3_uc011bca.1_Silent_p.L255L	p.L255L	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	4	785	-			255					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Silent	SNP	ENST00000341949.4	37	c.765A>G	CCDS33754.1																																																																																				0.527	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1		NM_018114		16	26	0	0	0	1	0	16	26		
QRICH1	54870	broad.mit.edu	37	3	49094851	49094851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49094851G>A	ENST00000395443.2	-	3	1254	c.782C>T	c.(781-783)tCa>tTa	p.S261L	QRICH1_ENST00000424300.1_Missense_Mutation_p.S261L|QRICH1_ENST00000357496.2_Missense_Mutation_p.S261L|QRICH1_ENST00000479449.1_Intron	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	261	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGGCTGCCCTGAGATGGCGTA	0.612																																						uc010hkq.2		NaN																	0				ovary(1)	1						c.(781-783)TCA>TTA		glutamine-rich 1							55.0	53.0	54.0					3																	49094851		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49094851G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.782C>T	3.37:g.49094851G>A	ENSP00000378830:p.Ser261Leu					QRICH1_uc003cvu.2_Missense_Mutation_p.S261L|QRICH1_uc003cvv.2_Missense_Mutation_p.S261L	p.S261L	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	4	1078	-			261			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.782C>T	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503427	0.64298	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	T;T;T	0.23147	1.92;1.92;1.92	6.07	6.07	0.98685	.	0.115877	0.64402	D	0.000010	T	0.19967	0.0480	N	0.14661	0.345	0.50039	D	0.999841	P	0.42827	0.791	B	0.37989	0.262	T	0.03259	-1.1055	10	0.87932	D	0	-3.6195	20.6439	0.99570	0.0:0.0:1.0:0.0	.	261	Q2TAL8	QRIC1_HUMAN	L	261	ENSP00000378830:S261L;ENSP00000350094:S261L;ENSP00000412890:S261L	ENSP00000350094:S261L	S	-	2	0	QRICH1	49069855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.330000	0.52068	2.890000	0.99128	0.650000	0.86243	TCA		0.612	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1		NM_017730		11	57	0	0	0	1	0	11	57		
C3orf62	375341	broad.mit.edu	37	3	49314142	49314142	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49314142G>A	ENST00000343010.3	-	1	1200	c.164C>T	c.(163-165)tCc>tTc	p.S55F	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	55								p.S55F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGAGAAGGAGAGCGGCGC	0.587																																						uc003cwn.2		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(163-165)TCC>TTC		hypothetical protein LOC375341							51.0	54.0	53.0					3																	49314142		2203	4300	6503	SO:0001583	missense	375341							g.chr3:49314142G>A	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.164C>T	3.37:g.49314142G>A	ENSP00000341139:p.Ser55Phe					C3orf62_uc003cwm.2_5'Flank	p.S55F	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	367	-			55					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.164C>T	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216178	0.39201	.	.	ENSG00000188315	ENST00000343010;ENST00000436325	T;T	0.49720	0.78;0.77	4.45	4.45	0.53987	.	1.283680	0.05303	N	0.523437	T	0.44891	0.1315	L	0.29908	0.895	0.09310	N	1	P	0.40794	0.729	B	0.41946	0.371	T	0.43845	-0.9366	10	0.56958	D	0.05	0.0742	12.4486	0.55666	0.0:0.0:1.0:0.0	.	55	Q6ZUJ4	CC062_HUMAN	F	55;53	ENSP00000341139:S55F;ENSP00000413663:S53F	ENSP00000341139:S55F	S	-	2	0	C3orf62	49289146	0.024000	0.19004	0.008000	0.14137	0.035000	0.12851	1.610000	0.36869	2.293000	0.77203	0.650000	0.86243	TCC		0.587	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1		NM_198562		13	54	0	0	0	1	0	13	54		
GMPPB	29925	broad.mit.edu	37	3	49759286	49759286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49759286C>T	ENST00000480687.1	-	10	1098	c.982G>A	c.(982-984)Gag>Aag	p.E328K	GMPPB_ENST00000308375.6_Missense_Mutation_p.E355K|GMPPB_ENST00000308388.6_Missense_Mutation_p.E328K|AMIGO3_ENST00000320431.7_5'Flank|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	328					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGACGTCCTCACCCAGCACT	0.597																																						uc003cxk.1		NaN																	0					0						c.(982-984)GAG>AAG		GDP-mannose pyrophosphorylase B isoform 2							77.0	71.0	73.0					3																	49759286		2203	4300	6503	SO:0001583	missense	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49759286C>T	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.982G>A	3.37:g.49759286C>T	ENSP00000418565:p.Glu328Lys					AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.E355K	p.E328K	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1207	-			328					A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.982G>A	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936138	0.73442	.	.	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	T;T;T	0.73897	-0.79;-0.73;-0.79	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	M	0.68593	2.085	0.80722	D	1	B;B	0.29988	0.264;0.172	B;B	0.33254	0.16;0.032	T	0.72472	-0.4283	10	0.33141	T	0.24	-29.7223	18.1208	0.89571	0.0:1.0:0.0:0.0	.	355;328	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	K	328;355;328	ENSP00000418565:E328K;ENSP00000309092:E355K;ENSP00000311130:E328K	ENSP00000309092:E355K	E	-	1	0	GMPPB	49734290	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.723000	0.84788	2.499000	0.84300	0.655000	0.94253	GAG		0.597	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1		NM_013334		14	40	0	0	0	1	0	14	40		
C3orf18	51161	broad.mit.edu	37	3	50603073	50603073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:50603073C>G	ENST00000357203.3	-	3	597	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	C3orf18_ENST00000426034.1_Missense_Mutation_p.E20Q|C3orf18_ENST00000441239.1_Missense_Mutation_p.E20Q|C3orf18_ENST00000449241.1_Missense_Mutation_p.E20Q|C3orf18_ENST00000486175.1_Intron	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	20						integral component of membrane (GO:0016021)				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		AGGTCAGACTCAGAGGTGGGT	0.622																																						uc003das.2		NaN																	0				pancreas(1)	1						c.(58-60)GAG>CAG		hypothetical protein LOC51161							61.0	52.0	55.0					3																	50603073		2203	4298	6501	SO:0001583	missense	51161					integral to membrane		g.chr3:50603073C>G	AF188706	CCDS2829.1, CCDS54589.1	3p21.3	2006-01-11			ENSG00000088543	ENSG00000088543			24837	protein-coding gene	gene with protein product						12477932	Standard	NM_016210		Approved	G20	uc010hlp.3	Q9UK00	OTTHUMG00000156854	ENST00000357203.3:c.58G>C	3.37:g.50603073C>G	ENSP00000349732:p.Glu20Gln					C3orf18_uc003dar.2_Missense_Mutation_p.E20Q|C3orf18_uc011bdr.1_Intron|C3orf18_uc010hlo.2_Missense_Mutation_p.E20Q|C3orf18_uc010hlp.2_Intron|C3orf18_uc003dat.2_Missense_Mutation_p.E20Q	p.E20Q	NM_016210	NP_057294	Q9UK00	CC018_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)	2	509	-			20					C9JNP0	Missense_Mutation	SNP	ENST00000357203.3	37	c.58G>C	CCDS2829.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192059	0.58017	.	.	ENSG00000088543	ENST00000426034;ENST00000357203;ENST00000449241;ENST00000441239	T;T;T;T	0.43294	0.95;0.95;0.95;1.21	5.24	5.24	0.73138	.	0.421997	0.27258	N	0.020188	T	0.33469	0.0864	L	0.29908	0.895	0.80722	D	1	P;B	0.39250	0.665;0.449	B;B	0.39904	0.313;0.205	T	0.17745	-1.0359	10	0.59425	D	0.04	-5.9843	11.4393	0.50088	0.0:0.9143:0.0:0.0857	.	20;20	C9JNP0;Q9UK00	.;CC018_HUMAN	Q	20	ENSP00000387606:E20Q;ENSP00000349732:E20Q;ENSP00000404913:E20Q;ENSP00000414124:E20Q	ENSP00000349732:E20Q	E	-	1	0	C3orf18	50578077	0.261000	0.24063	0.999000	0.59377	0.740000	0.42216	1.786000	0.38694	2.461000	0.83175	0.462000	0.41574	GAG		0.622	C3orf18-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346260.2		NM_016210		3	23	0	0	0	1	0	3	23		
DUSP7	1849	broad.mit.edu	37	3	52090218	52090218	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:52090218C>A	ENST00000495880.1	-	1	348	c.165G>T	c.(163-165)aaG>aaT	p.K55N	DUSP7_ENST00000296483.6_Missense_Mutation_p.K4N			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	55					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTCGGCGCTCTTGCAGGGCA	0.781																																						uc003dct.2		NaN																	0				ovary(1)	1						c.(163-165)AAG>AAT		dual specificity phosphatase 7							4.0	4.0	4.0					3																	52090218		1826	3705	5531	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52090218C>A	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.165G>T	3.37:g.52090218C>A	ENSP00000417183:p.Lys55Asn					DUSP7_uc010hma.2_Missense_Mutation_p.K55N	p.K55N	NM_001947	NP_001938	Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	244	-			55					Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.165G>T	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	c	23.3	4.397829	0.83120	.	.	ENSG00000164086	ENST00000495880;ENST00000296483	T;T	0.42900	0.96;0.96	4.53	3.65	0.41850	Rhodanese-like (3);	0.127812	0.51477	D	0.000088	T	0.54240	0.1846	L	0.43152	1.355	0.53005	D	0.999966	D;D	0.89917	0.986;1.0	D;D	0.79108	0.913;0.992	T	0.55328	-0.8158	10	0.66056	D	0.02	.	12.2058	0.54350	0.0:0.9153:0.0:0.0847	.	4;55	Q16829-2;Q16829	.;DUS7_HUMAN	N	55;4	ENSP00000417183:K55N;ENSP00000296483:K4N	ENSP00000296483:K4N	K	-	3	2	DUSP7	52065258	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	1.130000	0.31393	0.906000	0.36621	0.651000	0.88453	AAG		0.781	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1		NM_001947		3	7	1	0	0.115264	1	0.115908	3	7		
POC1A	25886	broad.mit.edu	37	3	52183865	52183865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:52183865C>T	ENST00000296484.2	-	3	281	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	POC1A_ENST00000394970.2_Missense_Mutation_p.R81Q|POC1A_ENST00000474012.1_Missense_Mutation_p.R43Q	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	81					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AGTCTTGTCTCGGGAGCCGGA	0.597																																						uc003dcu.2		NaN																	0					0						c.(241-243)CGA>CAA		WD repeat domain 51A isoform 1							86.0	79.0	82.0					3																	52183865		2203	4300	6503	SO:0001583	missense	25886					centriole|microtubule basal body		g.chr3:52183865C>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.242G>A	3.37:g.52183865C>T	ENSP00000296484:p.Arg81Gln					POC1A_uc003dcv.2_Missense_Mutation_p.R43Q|POC1A_uc003dcw.2_Missense_Mutation_p.R81Q	p.R81Q	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN			3	560	-			81			WD 2.		A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	37	c.242G>A	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931825	0.92389	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.62941	-0.01;-0.01;-0.01	5.21	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	N	0.12569	0.235	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.965;0.997	T	0.65763	-0.6089	10	0.28530	T	0.3	.	18.3669	0.90394	0.0:1.0:0.0:0.0	.	81;81	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	Q	81;81;43	ENSP00000296484:R81Q;ENSP00000378421:R81Q;ENSP00000418968:R43Q	ENSP00000296484:R81Q	R	-	2	0	POC1A	52158905	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	4.033000	0.57282	2.420000	0.82092	0.591000	0.81541	CGA		0.597	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1		NM_015426		11	51	0	0	0	1	0	11	51		
PTPRG	5793	broad.mit.edu	37	3	62188855	62188855	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:62188855G>A	ENST00000474889.1	+	12	1763	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	PTPRG_ENST00000295874.10_Silent_p.A462A	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	462					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGCCCACAGCGTCTCCTGCCT	0.547																																						uc003dlb.2		NaN																	0				ovary(5)|lung(2)	7						c.(1384-1386)GCG>GCA		protein tyrosine phosphatase, receptor type, G							69.0	77.0	74.0					3																	62188855		2203	4300	6503	SO:0001819	synonymous_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62188855G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1386G>A	3.37:g.62188855G>A						PTPRG_uc003dlc.2_Silent_p.A462A	p.A462A	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	12	2105	+			462			Extracellular (Potential).		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	c.1386G>A	CCDS2895.1																																																																																				0.547	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1		NM_002841		13	65	0	0	0	1	0	13	65		
CADPS	8618	broad.mit.edu	37	3	62385241	62385241	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:62385241C>T	ENST00000383710.4	-	30	4251	c.3902G>A	c.(3901-3903)cGa>cAa	p.R1301Q	CADPS_ENST00000357948.3_Missense_Mutation_p.R1222Q|CADPS_ENST00000283269.9_Missense_Mutation_p.R1262Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1301	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R1301Q(1)|p.R1262Q(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCCTTGCAATCGGAAATCTCT	0.488																																						uc003dll.2		NaN																	2	Substitution - Missense(2)		breast(2)	central_nervous_system(2)|ovary(1)	3						c.(3901-3903)CGA>CAA		Ca2+-dependent secretion activator isoform 1							111.0	105.0	107.0					3																	62385241		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62385241C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3902G>A	3.37:g.62385241C>T	ENSP00000373215:p.Arg1301Gln					CADPS_uc003dlj.1_Missense_Mutation_p.R256Q|CADPS_uc003dlk.1_Missense_Mutation_p.R749Q|CADPS_uc003dlm.2_Missense_Mutation_p.R1262Q|CADPS_uc003dln.2_Missense_Mutation_p.R1222Q	p.R1301Q	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	30	4262	-		Lung SC(41;0.0452)	1301			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3902G>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765856|4.765856	0.90020|0.90020	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.32272	.|1.46;1.46;1.46	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.58509|0.58509	0.2127|0.2127	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.994;0.999;0.999;0.994	.|P;D;D;P	.|0.72625	.|0.701;0.975;0.978;0.769	T|T	0.56944|0.56944	-0.7895|-0.7895	5|10	.|0.72032	.|D	.|0.01	.|.	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1222;1262;1301;1306	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	N|Q	293|1307;1301;1222;1262	.|ENSP00000373215:R1301Q;ENSP00000350632:R1222Q;ENSP00000283269:R1262Q	.|ENSP00000283269:R1262Q	D|R	-|-	1|2	0|0	CADPS|CADPS	62360281|62360281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.487000|7.487000	0.81328|0.81328	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.488	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5		NM_003716, NM_183393, NM_183394		19	67	0	0	0	1	0	19	67		
PDZRN3	23024	broad.mit.edu	37	3	73453372	73453372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:73453372C>T	ENST00000263666.4	-	4	1207	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	PDZRN3_ENST00000462146.2_Missense_Mutation_p.E22K|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E22K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E87K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E82K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	365					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ATGATATGTTCAAAGGTGATG	0.512																																						uc003dpl.1		NaN																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(1093-1095)GAA>AAA		PDZ domain containing ring finger 3							201.0	160.0	174.0					3																	73453372		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73453372C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1093G>A	3.37:g.73453372C>T	ENSP00000263666:p.Glu365Lys					PDZRN3_uc011bgh.1_Missense_Mutation_p.E22K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E63K|PDZRN3_uc011bgf.1_Missense_Mutation_p.E82K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E85K	p.E365K	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	4	1189	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	365					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1093G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715259	0.89112	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.11169	2.8;3.47;3.27;3.27;3.49;3.46	6.07	5.18	0.71444	.	0.052893	0.85682	D	0.000000	T	0.30386	0.0763	M	0.74881	2.28	0.51482	D	0.999922	D;P;P;P	0.54047	0.964;0.847;0.599;0.908	P;B;B;B	0.58577	0.841;0.214;0.284;0.338	T	0.04115	-1.0976	10	0.59425	D	0.04	.	16.3482	0.83171	0.0:0.839:0.161:0.0	.	87;82;82;365	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	K	365;87;22;22;82;365;63	ENSP00000263666:E365K;ENSP00000442026:E87K;ENSP00000418168:E22K;ENSP00000418484:E22K;ENSP00000418624:E82K;ENSP00000419250:E63K	ENSP00000263666:E365K	E	-	1	0	PDZRN3	73536062	0.967000	0.33354	0.998000	0.56505	0.991000	0.79684	2.062000	0.41413	1.469000	0.48083	0.655000	0.94253	GAA		0.512	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1		XM_041363		49	65	0	0	0	1	0	49	65		
CNTN3	5067	broad.mit.edu	37	3	74351884	74351884	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:74351884C>T	ENST00000263665.6	-	13	1770	c.1743G>A	c.(1741-1743)acG>acA	p.T581T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	581	Ig-like C2-type 6.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGTCCACCCCCGTTTGCACCA	0.408																																						uc003dpm.1		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(1741-1743)ACG>ACA		contactin 3 precursor							113.0	95.0	101.0					3																	74351884		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74351884C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1743G>A	3.37:g.74351884C>T							p.T581T	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	13	1823	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	581			Ig-like C2-type 6.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.1743G>A	CCDS33790.1																																																																																				0.408	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1		NM_020872		5	23	0	0	0	1	0	5	23		
TFG	10342	broad.mit.edu	37	3	100432575	100432575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:100432575C>T	ENST00000240851.4	+	2	386	c.46C>T	c.(46-48)Caa>Taa	p.Q16*	TFG_ENST00000476228.1_Nonsense_Mutation_p.Q16*|TFG_ENST00000418917.2_Nonsense_Mutation_p.Q16*|TFG_ENST00000490574.1_Nonsense_Mutation_p.Q16*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	16					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CATCAAAGCTCAACTTGGGGA	0.378			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	uc003due.2		NaN		Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	NTRK1|ALK		papillary thyroid|ALCL|NSCLC	TFG/ALK(7)	0				haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						c.(46-48)CAA>TAA		TRK-fused							115.0	109.0	111.0					3																	100432575		2203	4300	6503	SO:0001587	stop_gained	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100432575C>T	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.46C>T	3.37:g.100432575C>T	ENSP00000240851:p.Gln16*					TFG_uc003duf.2_Nonsense_Mutation_p.Q16*|TFG_uc003dug.2_Nonsense_Mutation_p.Q16*|TFG_uc003duh.2_Nonsense_Mutation_p.Q16*|TFG_uc003dui.2_Nonsense_Mutation_p.Q16*	p.Q16*	NM_006070	NP_006061	Q92734	TFG_HUMAN			2	495	+			16					D3DN49|G5E9V1|Q15656|Q969I2	Nonsense_Mutation	SNP	ENST00000240851.4	37	c.46C>T	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	C	38	6.880633	0.97908	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	.	.	.	5.91	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.5507	16.5781	0.84706	0.1313:0.8687:0.0:0.0	.	.	.	.	X	16	.	ENSP00000240851:Q16X	Q	+	1	0	TFG	101915265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.248000	0.78268	1.488000	0.48433	0.655000	0.94253	CAA		0.378	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1		NM_006070		38	79	0	0	0	1	0	38	79		
TFG	10342	broad.mit.edu	37	3	100432661	100432661	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:100432661C>T	ENST00000240851.4	+	2	472	c.132C>T	c.(130-132)ttC>ttT	p.F44F	TFG_ENST00000476228.1_Silent_p.F44F|TFG_ENST00000418917.2_Silent_p.F44F|TFG_ENST00000490574.1_Silent_p.F44F	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	44					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						AACGAGTTTTCAGAGGAAAAC	0.289			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	uc003due.2		NaN		Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	NTRK1|ALK		papillary thyroid|ALCL|NSCLC	TFG/ALK(7)	0				haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						c.(130-132)TTC>TTT		TRK-fused							71.0	74.0	73.0					3																	100432661		2203	4300	6503	SO:0001819	synonymous_variant	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100432661C>T	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.132C>T	3.37:g.100432661C>T						TFG_uc003duf.2_Silent_p.F44F|TFG_uc003dug.2_Silent_p.F44F|TFG_uc003duh.2_Silent_p.F44F|TFG_uc003dui.2_Silent_p.F44F	p.F44F	NM_006070	NP_006061	Q92734	TFG_HUMAN			2	581	+			44					D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	ENST00000240851.4	37	c.132C>T	CCDS2939.1																																																																																				0.289	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1		NM_006070		32	56	0	0	0	1	0	32	56		
CEP97	79598	broad.mit.edu	37	3	101451356	101451356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101451356G>A	ENST00000341893.3	+	6	1338	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	CEP97_ENST00000327230.4_Missense_Mutation_p.E196K|CEP97_ENST00000494050.1_Missense_Mutation_p.E196K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	196					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATCCTTAACTGAATTGGAACA	0.398																																						uc003dvk.1		NaN																	0				ovary(2)	2						c.(586-588)GAA>AAA		centrosomal protein 97kDa							121.0	108.0	113.0					3																	101451356		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101451356G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.586G>A	3.37:g.101451356G>A	ENSP00000342510:p.Glu196Lys					CEP97_uc010hpm.1_Missense_Mutation_p.E162K|CEP97_uc011bhf.1_Missense_Mutation_p.E196K|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.E34K	p.E196K	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			6	613	+			196			LRR 8.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.586G>A	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688858	0.68271	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.22539	1.95;1.95;2.32	5.82	5.82	0.92795	.	0.277618	0.40554	N	0.001075	T	0.16685	0.0401	N	0.11818	0.18	0.36840	D	0.887336	P;B;B	0.46512	0.879;0.39;0.155	B;B;B	0.44044	0.34;0.439;0.155	T	0.07693	-1.0759	10	0.45353	T	0.12	-17.7221	16.5767	0.84681	0.0:0.1387:0.8613:0.0	.	196;196;196	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	K	196	ENSP00000342510:E196K;ENSP00000325881:E196K;ENSP00000418185:E196K	ENSP00000325881:E196K	E	+	1	0	CEP97	102934046	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.558000	0.60789	2.756000	0.94617	0.563000	0.77884	GAA		0.398	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2		NM_024548		8	52	0	0	0	1	0	8	52		
NXPE3	91775	broad.mit.edu	37	3	101540511	101540511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101540511C>T	ENST00000491511.2	+	8	2349	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	NXPE3_ENST00000477909.1_Nonsense_Mutation_p.R465*|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000273347.5_Nonsense_Mutation_p.R465*|NXPE3_ENST00000422132.1_Nonsense_Mutation_p.R465*	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	465						extracellular region (GO:0005576)											GAACATCCGTCGAGCAGTGGT	0.572																																						uc003dvn.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1393-1395)CGA>TGA		hypothetical protein LOC91775 precursor							96.0	94.0	95.0					3																	101540511		2203	4300	6503	SO:0001587	stop_gained	91775					extracellular region		g.chr3:101540511C>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1393C>T	3.37:g.101540511C>T	ENSP00000417485:p.Arg465*					FAM55C_uc010hpn.2_Nonsense_Mutation_p.R465*	p.R465*	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			8	2030	+			465					A8K0X4|D3DN53|Q7Z2S8	Nonsense_Mutation	SNP	ENST00000491511.2	37	c.1393C>T	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	44	11.027231	0.99505	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	.	.	.	6.03	5.14	0.70334	.	0.338367	0.31113	N	0.008235	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-2.1719	10.9514	0.47332	0.3235:0.5631:0.1134:0.0	.	.	.	.	X	465	.	ENSP00000273347:R465X	R	+	1	2	FAM55C	103023201	0.517000	0.26226	0.890000	0.34922	0.777000	0.43975	1.247000	0.32815	1.515000	0.48885	0.655000	0.94253	CGA		0.572	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2		NM_145037		18	92	0	0	0	1	0	18	92		
NXPE3	91775	broad.mit.edu	37	3	101540531	101540531	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101540531C>T	ENST00000491511.2	+	8	2369	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	NXPE3_ENST00000477909.1_Silent_p.L471L|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000273347.5_Silent_p.L471L|NXPE3_ENST00000422132.1_Silent_p.L471L	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	471						extracellular region (GO:0005576)											TTCGGCTCCTCGATCGAAGCC	0.572																																						uc003dvn.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1411-1413)CTC>CTT		hypothetical protein LOC91775 precursor							97.0	96.0	96.0					3																	101540531		2203	4300	6503	SO:0001819	synonymous_variant	91775					extracellular region		g.chr3:101540531C>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1413C>T	3.37:g.101540531C>T						FAM55C_uc010hpn.2_Silent_p.L471L	p.L471L	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			8	2050	+			471					A8K0X4|D3DN53|Q7Z2S8	Silent	SNP	ENST00000491511.2	37	c.1413C>T	CCDS2945.1																																																																																				0.572	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2		NM_145037		18	110	0	0	0	1	0	18	110		
SLC35A5	55032	broad.mit.edu	37	3	112300027	112300027	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:112300027C>G	ENST00000492406.1	+	6	1346	c.1063C>G	c.(1063-1065)Ccc>Gcc	p.P355A	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	355					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TGACTTCAGGCCCTCCCTGGA	0.448																																						uc003dze.2		NaN																	0				ovary(1)	1						c.(1063-1065)CCC>GCC		solute carrier family 35, member A5							67.0	67.0	67.0					3																	112300027		2203	4299	6502	SO:0001583	missense	55032					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr3:112300027C>G	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.1063C>G	3.37:g.112300027C>G	ENSP00000417654:p.Pro355Ala						p.P355A	NM_017945	NP_060415	Q9BS91	S35A5_HUMAN			6	1308	+			355			Helical; (Potential).		D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	c.1063C>G	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093392	0.36952	.	.	ENSG00000138459	ENST00000492406	T	0.45276	0.9	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65857	-0.6066	10	0.40728	T	0.16	-15.1524	20.3559	0.98840	0.0:1.0:0.0:0.0	.	355	Q9BS91	S35A5_HUMAN	A	355	ENSP00000417654:P355A	ENSP00000417654:P355A	P	+	1	0	SLC35A5	113782717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.403000	0.79983	2.890000	0.99128	0.585000	0.79938	CCC		0.448	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1		NM_017945		13	72	0	0	0	1	0	13	72		
BOC	91653	broad.mit.edu	37	3	113002302	113002302	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:113002302C>G	ENST00000495514.1	+	16	3180	c.2476C>G	c.(2476-2478)Ctg>Gtg	p.L826V	BOC_ENST00000355385.3_Missense_Mutation_p.L826V|BOC_ENST00000273395.4_Missense_Mutation_p.L827V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	826					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ACCCCCAACTCTGGCCCCACC	0.572																																						uc003dzx.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(2476-2478)CTG>GTG		brother of CDO precursor							88.0	103.0	98.0					3																	113002302		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:113002302C>G	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2476C>G	3.37:g.113002302C>G	ENSP00000418663:p.Leu826Val					BOC_uc003dzy.2_Missense_Mutation_p.L826V|BOC_uc003dzz.2_Missense_Mutation_p.L827V|BOC_uc003eab.2_Missense_Mutation_p.L527V|BOC_uc003eac.2_Missense_Mutation_p.L141V	p.L826V	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		16	3097	+			826			Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.2476C>G	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	0.261	-0.999740	0.02128	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.58652	0.32;0.33;0.32	5.85	2.11	0.27256	.	0.254184	0.33553	N	0.004792	T	0.35711	0.0941	L	0.34521	1.04	0.28444	N	0.916665	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.12156	0.003;0.007;0.003	T	0.16276	-1.0408	10	0.11182	T	0.66	.	2.8136	0.05448	0.1026:0.4795:0.2093:0.2086	.	643;827;826	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	V	826;827;826	ENSP00000418663:L826V;ENSP00000273395:L827V;ENSP00000347546:L826V	ENSP00000273395:L827V	L	+	1	2	BOC	114484992	0.980000	0.34600	0.376000	0.26042	0.005000	0.04900	0.797000	0.26999	0.107000	0.17824	-0.794000	0.03295	CTG		0.572	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3		NM_033254		30	143	0	0	0	1	0	30	143		
KIAA2018	205717	broad.mit.edu	37	3	113379239	113379239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:113379239C>G	ENST00000478658.1	-	5	1307	c.1290G>C	c.(1288-1290)caG>caC	p.Q430H	KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q430H|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	430						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCACGTTGTCTGTGTGTTTC	0.413																																						uc003eam.2		NaN																	0				skin(2)|ovary(1)	3						c.(1288-1290)CAG>CAC		hypothetical protein LOC205717							74.0	75.0	75.0					3																	113379239		1980	4173	6153	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113379239C>G	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1290G>C	3.37:g.113379239C>G	ENSP00000420721:p.Gln430His					KIAA2018_uc003eal.2_Missense_Mutation_p.Q374H	p.Q430H	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	1701	-			430					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1290G>C	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.897974	0.52227	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.19938	2.11;2.11	5.68	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.08106	-1.0738	10	0.72032	D	0.01	-6.2632	10.6322	0.45543	0.0:0.8543:0.0:0.1457	.	430	Q68DE3	K2018_HUMAN	H	430	ENSP00000320794:Q430H;ENSP00000420721:Q430H	ENSP00000320794:Q430H	Q	-	3	2	KIAA2018	114861929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.820000	0.48057	1.397000	0.46682	0.650000	0.86243	CAG		0.413	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899		16	79	0	0	0	1	0	16	79		
ZBTB20	26137	broad.mit.edu	37	3	114069835	114069835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:114069835C>T	ENST00000474710.1	-	4	1268	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	ZBTB20_ENST00000464560.1_Missense_Mutation_p.E291K|ZBTB20_ENST00000462705.1_Missense_Mutation_p.E291K|ZBTB20_ENST00000481632.1_Missense_Mutation_p.E291K|ZBTB20_ENST00000471418.1_Missense_Mutation_p.E291K|ZBTB20_ENST00000393785.2_Missense_Mutation_p.E291K|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.E291K|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	364						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.E291K(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCGGTGCCCTCGGCCTGGTCT	0.607																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(4)|skin(1)	5						c.(1090-1092)GAG>AAG		zinc finger and BTB domain containing 20 isoform							94.0	65.0	75.0					3																	114069835		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069835C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1090G>A	3.37:g.114069835C>T	ENSP00000419153:p.Glu364Lys					ZBTB20_uc003ebj.2_Missense_Mutation_p.E291K|ZBTB20_uc010hqp.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebk.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebl.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebm.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebn.2_Missense_Mutation_p.E291K|uc003ebo.1_5'Flank	p.E364K	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	1270	-			364					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1090G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417160	0.83449	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10288	2.94;2.94;2.94;2.94;2.89;2.94;2.94	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.00664	-1.1620	10	0.42905	T	0.14	.	19.1106	0.93315	0.0:1.0:0.0:0.0	.	364	Q9HC78	ZBT20_HUMAN	K	291;291;291;291;364;291;291	ENSP00000420324:E291K;ENSP00000377375:E291K;ENSP00000418092:E291K;ENSP00000419902:E291K;ENSP00000419153:E364K;ENSP00000349803:E291K;ENSP00000417307:E291K	ENSP00000349803:E291K	E	-	1	0	ZBTB20	115552525	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.286000	0.78671	2.763000	0.94921	0.650000	0.86243	GAG		0.607	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1		NM_015642		16	52	0	0	0	1	0	16	52		
MYLK	4638	broad.mit.edu	37	3	123419600	123419600	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:123419600C>T	ENST00000475616.1	-	15	2714	c.2715G>A	c.(2713-2715)gtG>gtA	p.V905V	MYLK_ENST00000360304.3_Silent_p.V905V|MYLK_ENST00000346322.5_Silent_p.V836V|MYLK_ENST00000359169.1_Silent_p.V905V|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Silent_p.V905V			Q15746	MYLK_HUMAN	myosin light chain kinase	905	5 X 28 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTTTGTACTCACCTTCTTCC	0.592																																						uc003ego.2		NaN																	0				ovary(6)|skin(2)|stomach(1)	9						c.(2713-2715)GTG>GTA		myosin light chain kinase isoform 1							92.0	82.0	86.0					3																	123419600		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419600C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2715G>A	3.37:g.123419600C>T						MYLK_uc011bjw.1_Silent_p.V905V|MYLK_uc003egp.2_Silent_p.V836V|MYLK_uc003egq.2_Silent_p.V905V|MYLK_uc003egr.2_Silent_p.V836V|MYLK_uc003egs.2_Silent_p.V729V|MYLK_uc003egt.2_Silent_p.V96V	p.V905V	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	18	2997	-		Lung NSC(201;0.0496)	905			1-2.|5 X 28 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.2715G>A	CCDS46896.1																																																																																				0.592	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1		NM_053025		8	55	0	0	0	1	0	8	55		
CCDC14	64770	broad.mit.edu	37	3	123634090	123634090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:123634090G>A	ENST00000488653.2	-	13	2488	c.2398C>T	c.(2398-2400)Cag>Tag	p.Q800*	CCDC14_ENST00000433542.2_Nonsense_Mutation_p.Q759*|CCDC14_ENST00000489746.1_Nonsense_Mutation_p.Q600*|CCDC14_ENST00000485727.1_Nonsense_Mutation_p.Q600*|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000310351.4_Nonsense_Mutation_p.Q640*			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	800					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ATTTGTGGCTGAGGGGATAGT	0.388																																						uc011bjx.1		NaN																	0					0						c.(2398-2400)CAG>TAG		coiled-coil domain containing 14							74.0	75.0	74.0					3																	123634090		2203	4300	6503	SO:0001587	stop_gained	64770					centrosome		g.chr3:123634090G>A	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2398C>T	3.37:g.123634090G>A	ENSP00000420180:p.Gln800*					CCDC14_uc003egv.3_Nonsense_Mutation_p.Q441*|CCDC14_uc003egx.3_Nonsense_Mutation_p.Q600*|CCDC14_uc010hrt.2_Nonsense_Mutation_p.Q759*|CCDC14_uc003egy.3_Nonsense_Mutation_p.Q600*|CCDC14_uc003egz.2_Intron	p.Q800*	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	13	2489	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	800					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Nonsense_Mutation	SNP	ENST00000488653.2	37	c.2398C>T		.	.	.	.	.	.	.	.	.	.	G	10.70	1.424694	0.25639	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000419247	.	.	.	5.05	4.09	0.47781	.	0.121048	0.36854	N	0.002369	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	9.7046	0.40207	0.0839:0.0:0.7706:0.1455	.	.	.	.	X	800;640;600;600;759;781;298	.	ENSP00000312031:Q640X	Q	-	1	0	CCDC14	125116780	0.249000	0.23941	0.435000	0.26784	0.035000	0.12851	1.936000	0.40183	2.623000	0.88846	0.591000	0.81541	CAG		0.388	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_022757		17	74	0	0	0	1	0	17	74		
EEFSEC	60678	broad.mit.edu	37	3	127872571	127872571	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:127872571C>T	ENST00000254730.6	+	1	275	c.221C>T	c.(220-222)gCg>gTg	p.A74V	RUVBL1_ENST00000464873.1_5'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.A74V	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	74	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TTCCAGGCAGCGCCCGAGGCC	0.716																																						uc003eki.2		NaN																	0				ovary(1)	1						c.(220-222)GCG>GTG		eukaryotic elongation factor,							5.0	7.0	6.0					3																	127872571		2085	4126	6211	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127872571C>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.221C>T	3.37:g.127872571C>T	ENSP00000254730:p.Ala74Val					EEFSEC_uc003ekj.2_Missense_Mutation_p.A74V|RUVBL1_uc003ekf.2_5'UTR	p.A74V	NM_021937	NP_068756	P57772	SELB_HUMAN			1	259	+			74					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.221C>T	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	C	8.525	0.869694	0.17322	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.55588	0.92;0.51	3.61	1.68	0.24146	Protein synthesis factor, GTP-binding (1);	.	.	.	.	T	0.34832	0.0911	N	0.19112	0.55	0.09310	N	0.999992	B;B	0.26512	0.151;0.151	B;B	0.23275	0.045;0.045	T	0.22243	-1.0222	9	0.52906	T	0.07	-14.3059	8.2207	0.31539	0.4334:0.5666:0.0:0.0	.	74;74	C9J8T0;P57772	.;SELB_HUMAN	V	74	ENSP00000254730:A74V;ENSP00000417660:A74V	ENSP00000254730:A74V	A	+	2	0	EEFSEC	129355261	0.995000	0.38212	0.082000	0.20525	0.394000	0.30568	1.480000	0.35464	0.281000	0.22233	0.585000	0.79938	GCG		0.716	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2		NM_021937		2	2	0	0	0	1	0	2	2		
ACAD9	28976	broad.mit.edu	37	3	128631370	128631370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:128631370G>A	ENST00000308982.7	+	18	1867	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	RP11-723O4.6_ENST00000508239.1_Intron|KIAA1257_ENST00000511438.1_Intron|ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	596						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AAACCTAGATGAGCAGATTAA	0.512																																						uc003ela.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1786-1788)GAG>AAG		acyl-Coenzyme A dehydrogenase family, member 9							90.0	78.0	82.0					3																	128631370		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128631370G>A	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1786G>A	3.37:g.128631370G>A	ENSP00000312618:p.Glu596Lys					KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Missense_Mutation_p.E473K|ACAD9_uc003elb.2_Missense_Mutation_p.E473K|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.E248K|uc003elf.1_Intron	p.E596K	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN			18	1988	+			596					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.1786G>A	CCDS3053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.52|12.52	1.961788|1.961788	0.34659|0.34659	.|.	.|.	ENSG00000177646|ENSG00000177646	ENST00000406840|ENST00000308982;ENST00000334167	.|T	.|0.79454	.|-1.27	5.47|5.47	4.57|4.57	0.56435|0.56435	.|.	.|0.157449	.|0.56097	.|D	.|0.000034	.|T	.|0.65322	.|0.2680	L|L	0.31926|0.31926	0.97|0.97	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	.|T	.|0.58364	.|-0.7649	.|10	.|0.08837	.|T	.|0.75	.|.	13.8274|13.8274	0.63359|0.63359	0.0:0.1548:0.8452:0.0|0.0:0.1548:0.8452:0.0	.|.	.|596	.|Q9H845	.|ACAD9_HUMAN	.|K	-1|596;463	.|ENSP00000312618:E596K	.|ENSP00000312618:E596K	.|E	+|+	.|1	.|0	ACAD9|ACAD9	130114060|130114060	1.000000|1.000000	0.71417|0.71417	0.722000|0.722000	0.30670|0.30670	0.989000|0.989000	0.77384|0.77384	3.754000|3.754000	0.55189|0.55189	1.262000|1.262000	0.44165|0.44165	0.591000|0.591000	0.81541|0.81541	.|GAG		0.512	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1		NM_014049		21	28	0	0	0	1	0	21	28		
HMCES	56941	broad.mit.edu	37	3	129007759	129007759	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:129007759C>T	ENST00000383463.4	+	3	335	c.246C>T	c.(244-246)ttC>ttT	p.F82F	HMCES_ENST00000389735.3_Silent_p.F82F|HMCES_ENST00000502878.2_Silent_p.F82F|HMCES_ENST00000417226.2_Silent_p.F82F	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	82							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										CTTCTTGGTTCAAAGAAAGTG	0.478																																						uc003elt.2		NaN																	0				ovary(1)	1						c.(244-246)TTC>TTT		hypothetical protein LOC56941							126.0	106.0	113.0					3																	129007759		2203	4300	6503	SO:0001819	synonymous_variant	56941							g.chr3:129007759C>T	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.246C>T	3.37:g.129007759C>T						C3orf37_uc003elu.2_Silent_p.F82F|C3orf37_uc003elv.2_Silent_p.F82F|C3orf37_uc003elw.2_Silent_p.F82F	p.F82F	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN			3	334	+			82					A6NJR9|Q96G34|Q9NRP3	Silent	SNP	ENST00000383463.4	37	c.246C>T	CCDS33852.1																																																																																				0.478	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2		NM_020187		9	69	0	0	0	1	0	9	69		
H1FX	8971	broad.mit.edu	37	3	129034497	129034497	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:129034497C>G	ENST00000333762.4	-	1	623	c.249G>C	c.(247-249)caG>caC	p.Q83H	H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000433902.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	83	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						TGCGCCCATTCTGCTGGTCGA	0.612																																						uc003elx.2		NaN																	0					0						c.(247-249)CAG>CAC		H1 histone family, member X							59.0	36.0	44.0					3																	129034497		2202	4297	6499	SO:0001583	missense	8971				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr3:129034497C>G	D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.249G>C	3.37:g.129034497C>G	ENSP00000329662:p.Gln83His					C3orf47_uc011bkv.1_5'Flank	p.Q83H	NM_006026	NP_006017	Q92522	H1X_HUMAN			1	624	-			83			H15.			Missense_Mutation	SNP	ENST00000333762.4	37	c.249G>C	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149199	0.57151	.	.	ENSG00000184897	ENST00000333762	T	0.11385	2.78	3.53	2.62	0.31277	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.087214	0.47455	U	0.000239	T	0.19846	0.0477	L	0.45051	1.395	0.49798	D	0.999824	D	0.65815	0.995	D	0.66196	0.942	T	0.00555	-1.1673	10	0.87932	D	0	-30.3891	7.9723	0.30134	0.0:0.8649:0.0:0.1351	.	83	Q92522	H1X_HUMAN	H	83	ENSP00000329662:Q83H	ENSP00000329662:Q83H	Q	-	3	2	H1FX	130517187	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	3.144000	0.50616	0.424000	0.26061	0.462000	0.41574	CAG		0.612	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2		NM_006026		3	3	0	0	0	1	0	3	3		
COL6A6	131873	broad.mit.edu	37	3	130287183	130287183	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:130287183C>T	ENST00000358511.6	+	5	2167	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	COL6A6_ENST00000453409.2_Silent_p.F712F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	712	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCAGTACTTCAGCCCCACCA	0.502																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2134-2136)TTC>TTT		collagen type VI alpha 6 precursor							93.0	95.0	94.0					3																	130287183		1942	4129	6071	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130287183C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2136C>T	3.37:g.130287183C>T							p.F712F	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			5	2167	+			712			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.2136C>T	CCDS46911.1																																																																																				0.502	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		21	93	0	0	0	1	0	21	93		
NEK11	79858	broad.mit.edu	37	3	130799266	130799266	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:130799266G>C	ENST00000510769.1	+	3	423		c.e3-1		NEK11_ENST00000511262.1_Splice_Site|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000507910.1_Splice_Site|NEK11_ENST00000383366.4_Splice_Site|NEK11_ENST00000508196.1_Splice_Site|NEK11_ENST00000510688.1_Splice_Site|NEK11_ENST00000429253.2_Splice_Site|NEK11_ENST00000356918.4_Splice_Site					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TTTGATCTCAGAAAGGTACTT	0.378																																						uc003eny.2		NaN																	0				large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.e4-1		NIMA-related kinase 11 isoform 1							35.0	37.0	36.0					3																	130799266		2203	4300	6503	SO:0001630	splice_region_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130799266G>C	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.171-1G>C	3.37:g.130799266G>C						NEK11_uc003enx.2_Splice_Site_p.L57_splice|NEK11_uc003eoa.2_Splice_Site_p.L57_splice|NEK11_uc003enz.2_Splice_Site|NEK11_uc010htn.2_Splice_Site|NEK11_uc011blk.1_Intron|NEK11_uc011bll.1_Splice_Site_p.L57_splice|NEK11_uc003enw.1_Splice_Site_p.L57_splice|NEK11_uc011blm.1_Splice_Site_p.L57_splice|NEK11_uc010hto.1_5'Flank	p.L57_splice	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			4	497	+									Splice_Site	SNP	ENST00000510769.1	37	c.171_splice		.	.	.	.	.	.	.	.	.	.	G	13.90	2.373983	0.42105	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.687	0.95982	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEK11	132281956	1.000000	0.71417	0.997000	0.53966	0.299000	0.27559	8.361000	0.90098	2.723000	0.93209	0.655000	0.94253	.		0.378	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1		NM_024800	Intron	3	18	0	0	0	1	0	3	18		
SLC35G2	80723	broad.mit.edu	37	3	136574418	136574418	+	Missense_Mutation	SNP	C	C	G	rs564732566		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:136574418C>G	ENST00000446465.2	+	2	1744	c.1116C>G	c.(1114-1116)atC>atG	p.I372M	RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.I372M|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		TTCCTAGCATCTATGATGTTT	0.403																																						uc003erf.3		NaN																	0				ovary(1)	1						c.(1114-1116)ATC>ATG		transmembrane protein 22							189.0	172.0	178.0					3																	136574418		2203	4300	6503	SO:0001583	missense	80723					Golgi apparatus|integral to membrane		g.chr3:136574418C>G	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.1116C>G	3.37:g.136574418C>G	ENSP00000400839:p.Ile372Met					TMEM22_uc003erg.3_Missense_Mutation_p.I372M|TMEM22_uc010hub.2_Missense_Mutation_p.I372M	p.I372M	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN			2	1330	+			372			DUF6 2.|Helical; (Potential).			Missense_Mutation	SNP	ENST00000446465.2	37	c.1116C>G	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	C	5.690	0.311916	0.10789	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.52983	0.64;0.64	5.93	-1.68	0.08212	Drug/metabolite transporter (1);	0.365589	0.27971	N	0.017116	T	0.24044	0.0582	N	0.08118	0	0.24539	N	0.994078	B	0.22746	0.074	B	0.32677	0.15	T	0.19160	-1.0314	10	0.33141	T	0.24	-11.6154	6.5748	0.22560	0.0:0.31:0.2137:0.4762	.	372	Q8TBE7	TMM22_HUMAN	M	372	ENSP00000400839:I372M;ENSP00000376794:I372M	ENSP00000376794:I372M	I	+	3	3	TMEM22	138057108	0.279000	0.24239	0.982000	0.44146	0.963000	0.63663	-0.452000	0.06787	-0.350000	0.08262	-0.218000	0.12543	ATC		0.403	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1		NM_025246		33	157	0	0	0	1	0	33	157		
MED12L	116931	broad.mit.edu	37	3	150883739	150883739	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:150883739C>G	ENST00000474524.1	+	10	1502	c.1464C>G	c.(1462-1464)ttC>ttG	p.F488L	MED12L_ENST00000422248.2_Missense_Mutation_p.F488L|MED12L_ENST00000309237.4_Missense_Mutation_p.F488L|MED12L_ENST00000273432.4_Missense_Mutation_p.F348L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	488						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAAGATTTTCTGGGCAAACC	0.343																																						uc003eyp.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1462-1464)TTC>TTG		mediator of RNA polymerase II transcription,							98.0	95.0	96.0					3																	150883739		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150883739C>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1464C>G	3.37:g.150883739C>G	ENSP00000417235:p.Phe488Leu					MED12L_uc011bnz.1_Missense_Mutation_p.F348L|MED12L_uc003eyn.2_Missense_Mutation_p.F488L|MED12L_uc003eyo.2_Missense_Mutation_p.F488L	p.F488L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		10	1502	+			488					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1464C>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398032	0.62177	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.59	5.59	0.84812	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	M	0.87900	2.915	0.46279	D	0.998962	D;D;D;B	0.63046	0.992;0.979;0.974;0.004	D;D;D;B	0.74023	0.918;0.982;0.969;0.004	T	0.75886	-0.3159	10	0.87932	D	0	-23.9899	12.5339	0.56131	0.0:0.9231:0.0:0.0769	.	348;488;488;488	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	L	488;488;488;348	ENSP00000403308:F488L;ENSP00000310760:F488L;ENSP00000417235:F488L;ENSP00000273432:F348L	ENSP00000273432:F348L	F	+	3	2	MED12L	152366429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.409000	0.34680	2.619000	0.88677	0.655000	0.94253	TTC		0.343	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2		NM_053002		25	98	0	0	0	1	0	25	98		
OTOL1	131149	broad.mit.edu	37	3	161221331	161221331	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:161221331C>T	ENST00000327928.4	+	4	1035	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	345	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGTCGGCTTTCAGCGCTGGTT	0.517																																						uc011bpb.1		NaN																	0					0						c.(1033-1035)TTC>TTT		otolin-1 precursor							43.0	41.0	42.0					3																	161221331		1869	4098	5967	SO:0001819	synonymous_variant	131149					collagen		g.chr3:161221331C>T		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1035C>T	3.37:g.161221331C>T							p.F345F	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			4	1035	+			345			C1q.			Silent	SNP	ENST00000327928.4	37	c.1035C>T	CCDS46948.1																																																																																				0.517	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1		NM_001080440		13	41	0	0	0	1	0	13	41		
OTOL1	131149	broad.mit.edu	37	3	161221535	161221535	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:161221535C>G	ENST00000327928.4	+	4	1239	c.1239C>G	c.(1237-1239)ttC>ttG	p.F413L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	413	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGAAGCAGTTCAAGTCCAGAG	0.473																																						uc011bpb.1		NaN																	0					0						c.(1237-1239)TTC>TTG		otolin-1 precursor							56.0	52.0	53.0					3																	161221535		1922	4129	6051	SO:0001583	missense	131149					collagen		g.chr3:161221535C>G		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1239C>G	3.37:g.161221535C>G	ENSP00000330808:p.Phe413Leu						p.F413L	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			4	1239	+			413			C1q.			Missense_Mutation	SNP	ENST00000327928.4	37	c.1239C>G	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	C	3.197	-0.164625	0.06502	.	.	ENSG00000182447	ENST00000327928	T	0.72725	-0.68	5.24	4.37	0.52481	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.686726	0.15065	N	0.282549	T	0.44095	0.1277	N	0.10664	0.02	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.29518	-1.0009	10	0.02654	T	1	.	8.7964	0.34883	0.0:0.8288:0.0:0.1712	.	413	A6NHN0	OTOL1_HUMAN	L	413	ENSP00000330808:F413L	ENSP00000330808:F413L	F	+	3	2	OTOL1	162704229	0.997000	0.39634	0.794000	0.32065	0.983000	0.72400	0.497000	0.22514	1.198000	0.43158	0.563000	0.77884	TTC		0.473	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1		NM_001080440		5	42	0	0	0	1	0	5	42		
LRRIQ4	344657	broad.mit.edu	37	3	169539961	169539961	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:169539961G>T	ENST00000340806.6	+	1	252	c.252G>T	c.(250-252)agG>agT	p.R84S		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	84										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACAACCTGAGGAGCCTGTGCC	0.532																																						uc003fgb.2		NaN																	0					0						c.(250-252)AGG>AGT		leucine-rich repeats and IQ motif containing 4							70.0	75.0	74.0					3																	169539961		1902	4113	6015	SO:0001583	missense	344657							g.chr3:169539961G>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.252G>T	3.37:g.169539961G>T	ENSP00000342188:p.Arg84Ser						p.R84S	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	252	+			84			LRR 3.			Missense_Mutation	SNP	ENST00000340806.6	37	c.252G>T	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001189	0.35320	.	.	ENSG00000188306	ENST00000340806	T	0.55588	0.51	5.69	-4.32	0.03688	.	1.413000	0.04218	N	0.332974	T	0.15998	0.0385	N	0.00642	-1.3	0.09310	N	1	B	0.18741	0.03	B	0.20577	0.03	T	0.13980	-1.0489	10	0.08837	T	0.75	.	3.4141	0.07369	0.3027:0.3431:0.2676:0.0867	.	84	A6NIV6	LRIQ4_HUMAN	S	84	ENSP00000342188:R84S	ENSP00000342188:R84S	R	+	3	2	LRRIQ4	171022655	0.000000	0.05858	0.000000	0.03702	0.595000	0.36748	-0.474000	0.06607	-0.803000	0.04415	0.561000	0.74099	AGG		0.532	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1		NM_001080460		15	124	1	0	6.72482e-11	1	7.47862e-11	15	124		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				12	81	0	0	0	1	0	12	81		
YEATS2	55689	broad.mit.edu	37	3	183503990	183503990	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:183503990C>T	ENST00000305135.5	+	20	3009	c.2814C>T	c.(2812-2814)ctC>ctT	p.L938L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	938					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTCACAGCTCTCGAAGCCTG	0.547																																						uc003fly.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(2812-2814)CTC>CTT		YEATS domain containing 2							67.0	67.0	67.0					3																	183503990		2012	4189	6201	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183503990C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2814C>T	3.37:g.183503990C>T						YEATS2_uc003flz.2_Silent_p.L17L	p.L938L	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		20	3009	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		938					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.2814C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	9.399	1.077461	0.20227	.	.	ENSG00000163872	ENST00000432781	T	0.59772	0.24	5.88	3.01	0.34805	.	0.000000	0.64402	D	0.000003	T	0.64193	0.2576	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65038	-0.6265	7	0.66056	D	0.02	-15.4908	8.9298	0.35663	0.0:0.742:0.1227:0.1353	.	.	.	.	F	124	ENSP00000406477:L124F	ENSP00000406477:L124F	L	+	1	0	YEATS2	184986684	0.999000	0.42202	1.000000	0.80357	0.943000	0.58893	0.512000	0.22755	0.837000	0.34925	-0.812000	0.03155	CTC		0.547	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2		NM_018023		30	54	0	0	0	1	0	30	54		
DVL3	1857	broad.mit.edu	37	3	183883967	183883967	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:183883967G>T	ENST00000313143.3	+	8	1065	c.817G>T	c.(817-819)Gac>Tac	p.D273Y	DVL3_ENST00000431765.1_Missense_Mutation_p.D273Y|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	273	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGAGCGTGGTGACGGCGGCAT	0.502																																						uc003fms.2		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(817-819)GAC>TAC		dishevelled 3							91.0	87.0	88.0					3																	183883967		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183883967G>T	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.817G>T	3.37:g.183883967G>T	ENSP00000316054:p.Asp273Tyr					DVL3_uc011bqw.1_Missense_Mutation_p.D273Y|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Missense_Mutation_p.D105Y	p.D273Y	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		8	957	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		273			PDZ.		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.817G>T	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647560	0.87958	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765;ENST00000423300	T;T;T	0.32023	1.47;1.47;1.47	5.8	5.8	0.92144	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.66963	0.2843	M	0.91300	3.195	0.80722	D	1	P;D;D	0.89917	0.887;1.0;0.999	D;D;D	0.85130	0.928;0.997;0.986	T	0.73783	-0.3874	10	0.87932	D	0	-1.9903	20.063	0.97692	0.0:0.0:1.0:0.0	.	273;105;273	B4E3E5;Q9UG07;Q92997	.;.;DVL3_HUMAN	Y	273;273;273;171	ENSP00000316054:D273Y;ENSP00000405885:D273Y;ENSP00000393849:D171Y	ENSP00000316054:D273Y	D	+	1	0	DVL3	185366661	1.000000	0.71417	0.969000	0.41365	0.987000	0.75469	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	GAC		0.502	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1		NM_004423		12	109	1	0	9.31168e-06	1	9.77726e-06	12	109		
FAM131A	131408	broad.mit.edu	37	3	184059850	184059850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:184059850C>T	ENST00000310585.4	+	1	1593	c.229C>T	c.(229-231)Cca>Tca	p.P77S	FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000453072.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000450976.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	77						extracellular region (GO:0005576)		p.P77S(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCCTATCTCCAGGTATTTC	0.597																																						uc003fog.2		NaN																	2	Substitution - Missense(1)|Unknown(1)		lung(2)	breast(1)	1						c.(229-231)CCA>TCA		hypothetical protein LOC131408 precursor							198.0	181.0	187.0					3																	184059850		2203	4300	6503	SO:0001583	missense	131408					extracellular region		g.chr3:184059850C>T	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.229C>T	3.37:g.184059850C>T	ENSP00000310135:p.Pro77Ser					FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron	p.P77S	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	1593	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		77					D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	ENST00000310585.4	37	c.229C>T		.	.	.	.	.	.	.	.	.	.	c	10.65	1.409136	0.25378	.	.	ENSG00000175182	ENST00000310585	T	0.20598	2.06	5.31	-1.34	0.09143	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.09310	N	0.999998	B	0.12013	0.005	B	0.08055	0.003	T	0.40175	-0.9577	8	0.08381	T	0.77	.	3.3353	0.07098	0.103:0.3921:0.3034:0.2015	.	77	Q6UXB0	F131A_HUMAN	S	77	ENSP00000310135:P77S	ENSP00000310135:P77S	P	+	1	0	FAM131A	185542544	0.000000	0.05858	0.020000	0.16555	0.140000	0.21249	-1.557000	0.02166	-0.021000	0.14009	0.591000	0.81541	CCA		0.597	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1		NM_144635		75	177	0	0	0	1	0	75	177		
MASP1	5648	broad.mit.edu	37	3	186947621	186947621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:186947621C>G	ENST00000337774.5	-	11	1757	c.1368G>C	c.(1366-1368)caG>caC	p.Q456H		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	456	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGTGCCTTTCTGGGCTGGGC	0.597																																						uc003frh.1		NaN																	0				ovary(2)|breast(1)|liver(1)	4						c.(1366-1368)CAG>CAC		mannan-binding lectin serine protease 1 isoform							82.0	77.0	79.0					3																	186947621		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186947621C>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1368G>C	3.37:g.186947621C>G	ENSP00000336792:p.Gln456His						p.Q456H	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	1700	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		456			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1368G>C	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823382	0.32237	.	.	ENSG00000127241	ENST00000337774	D	0.89552	-2.53	5.7	2.93	0.34026	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.79387	0.4437	N	0.21583	0.68	0.80722	D	1	B	0.28783	0.222	B	0.24848	0.056	T	0.72547	-0.4260	9	0.59425	D	0.04	.	7.5223	0.27635	0.0:0.7097:0.1378:0.1525	.	456	P48740	MASP1_HUMAN	H	456	ENSP00000336792:Q456H	ENSP00000336792:Q456H	Q	-	3	2	MASP1	188430315	1.000000	0.71417	0.055000	0.19348	0.156000	0.22039	1.062000	0.30555	0.429000	0.26202	-0.136000	0.14681	CAG		0.597	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1		NM_001879		11	38	0	0	0	1	0	11	38		
ATP13A5	344905	broad.mit.edu	37	3	193031929	193031929	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:193031929G>A	ENST00000342358.4	-	19	2329	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'Flank	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	738						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGGCTGCCTGGAGGGATCATT	0.478																																						uc011bsq.1		NaN																	0				ovary(5)|skin(4)|large_intestine(2)	11						c.(2212-2214)CCA>TCA		ATPase type 13A5							134.0	129.0	131.0					3																	193031929		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193031929G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2212C>T	3.37:g.193031929G>A	ENSP00000341942:p.Pro738Ser						p.P738S	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	19	2212	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		738					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.2212C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165695	0.38217	.	.	ENSG00000187527	ENST00000342358	T	0.56611	0.45	5.82	0.553	0.17235	HAD-like domain (2);	2.098850	0.01773	N	0.031299	T	0.37461	0.1004	N	0.16478	0.41	0.21184	N	0.999768	B	0.12630	0.006	B	0.14023	0.01	T	0.17167	-1.0378	10	0.18276	T	0.48	8.727	8.9402	0.35725	0.0:0.3743:0.2701:0.3557	.	738	Q4VNC0	AT135_HUMAN	S	738	ENSP00000341942:P738S	ENSP00000341942:P738S	P	-	1	0	ATP13A5	194514623	0.001000	0.12720	0.181000	0.23098	0.991000	0.79684	-0.147000	0.10234	0.073000	0.16731	0.655000	0.94253	CCA		0.478	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1		NM_198505		55	107	0	0	0	1	0	55	107		
MUC4	4585	broad.mit.edu	37	3	195516055	195516055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:195516055G>T	ENST00000463781.3	-	2	2855	c.2396C>A	c.(2395-2397)tCa>tAa	p.S799*	MUC4_ENST00000475231.1_Nonsense_Mutation_p.S799*|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	804	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGCCCGCTGAGGTGGTTCG	0.587																																						uc011bto.1		NaN																	0					0						c.(2395-2397)TCA>TAA		mucin 4 isoform a							102.0	113.0	109.0					3																	195516055		2180	4273	6453	SO:0001587	stop_gained	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516055G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2396C>A	3.37:g.195516055G>T	ENSP00000417498:p.Ser799*					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Nonsense_Mutation_p.S681*	p.S799*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2856	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	804			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	ENST00000463781.3	37	c.2396C>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	35	5.424926	0.96131	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	2.85	-4.85	0.03142	.	2.183540	0.02707	N	0.112419	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1438	2.669	0.05062	0.1645:0.1669:0.5014:0.1672	.	.	.	.	X	799;799;773	.	ENSP00000376209:S773X	S	-	2	0	MUC4	197000450	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.465000	0.06680	-1.024000	0.03338	0.627000	0.83407	TCA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		12	123	1	0	2.32078e-09	1	2.5472e-09	12	123		
MUC4	4585	broad.mit.edu	37	3	195517505	195517505	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:195517505G>C	ENST00000463781.3	-	2	1405	c.946C>G	c.(946-948)Cag>Gag	p.Q316E	MUC4_ENST00000475231.1_Missense_Mutation_p.Q316E|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	321					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTTGTGTCCTGAGTAGAAGTC	0.468																																						uc011bto.1		NaN																	0					0						c.(946-948)CAG>GAG		mucin 4 isoform a							234.0	225.0	228.0					3																	195517505		2019	4179	6198	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517505G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.946C>G	3.37:g.195517505G>C	ENSP00000417498:p.Gln316Glu					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.Q198E	p.Q316E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1406	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	321					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.946C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.762	0.141638	0.09083	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.53640	0.61;0.65	3.7	-0.415	0.12355	.	.	.	.	.	T	0.22859	0.0552	N	0.22421	0.69	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.12837	0.006;0.008	T	0.27571	-1.0070	9	0.02654	T	1	.	2.8194	0.05467	0.1129:0.4065:0.3257:0.1549	.	316;321	E7ESK3;Q99102	.;MUC4_HUMAN	E	316;316;290	ENSP00000417498:Q316E;ENSP00000420243:Q316E	ENSP00000376209:Q290E	Q	-	1	0	MUC4	197001900	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.269000	0.08596	-0.078000	0.12730	0.627000	0.83407	CAG		0.468	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		31	135	0	0	0	1	0	31	135		
RNF4	6047	broad.mit.edu	37	4	2514856	2514856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:2514856G>A	ENST00000511600.1	+	7	1936	c.421G>A	c.(421-423)Gag>Aag	p.E141K	RNF4_ENST00000541204.1_Missense_Mutation_p.E141K|RNF4_ENST00000314289.8_Missense_Mutation_p.E141K|RNF4_ENST00000506706.1_Missense_Mutation_p.E141K|RNF4_ENST00000511859.1_Silent_p.Q87Q			P78317	RNF4_HUMAN	ring finger protein 4	141					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				CGGATACTCAGAGGTAAGTAA	0.458																																						uc003gfb.2		NaN																	0					0						c.(421-423)GAG>AAG		ring finger protein 4							286.0	275.0	279.0					4																	2514856		1946	4161	6107	SO:0001583	missense	6047				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:2514856G>A	U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"""RING-type (C3HC4) zinc fingers"""	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.421G>A	4.37:g.2514856G>A	ENSP00000426503:p.Glu141Lys					RNF4_uc010icj.2_Silent_p.Q87Q|RNF4_uc003gfc.2_Missense_Mutation_p.E141K	p.E141K	NM_002938	NP_002929	P78317	RNF4_HUMAN			7	757	+		all_epithelial(65;0.241)	141			RING-type.		B2R6D6|D6RF58|Q49AR8	Missense_Mutation	SNP	ENST00000511600.1	37	c.421G>A	CCDS47001.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174350	0.94807	.	.	ENSG00000063978	ENST00000314289;ENST00000541204;ENST00000502316;ENST00000506706;ENST00000511600	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.73	4.73	0.59995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73547	-0.3948	9	0.59425	D	0.04	-28.6777	16.862	0.86021	0.0:0.0:1.0:0.0	.	141	P78317	RNF4_HUMAN	K	141	ENSP00000315212:E141K;ENSP00000446369:E141K;ENSP00000423100:E141K;ENSP00000424076:E141K;ENSP00000426503:E141K	ENSP00000315212:E141K	E	+	1	0	RNF4	2484654	1.000000	0.71417	0.947000	0.38551	0.717000	0.41224	8.252000	0.89840	2.455000	0.83008	0.655000	0.94253	GAG		0.458	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360920.1		NM_002938		13	230	0	0	0	1	0	13	230		
DOK7	285489	broad.mit.edu	37	4	3465126	3465126	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:3465126G>A	ENST00000340083.5	+	1	89	c.24G>A	c.(22-24)gaG>gaA	p.E8E	DOK7_ENST00000389653.2_Silent_p.E8E|DOK7_ENST00000507039.1_Silent_p.E8E	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	8	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCTGGTGGAGGGCCAGGTCA	0.761																																						uc003ghd.2		NaN																	0				skin(1)	1						c.(22-24)GAG>GAA		downstream of tyrosine kinase 7 isoform 1							7.0	9.0	8.0					4																	3465126		1700	3877	5577	SO:0001819	synonymous_variant	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3465126G>A	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.24G>A	4.37:g.3465126G>A						DOK7_uc003ghe.2_5'UTR	p.E8E	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	94	+			8			PH.		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	ENST00000340083.5	37	c.24G>A	CCDS3370.2																																																																																				0.761	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1		NM_173660		2	3	0	0	0	1	0	2	3		
ADRA2C	152	broad.mit.edu	37	4	3768990	3768990	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:3768990C>T	ENST00000330055.5	+	1	866	c.657C>T	c.(655-657)ttC>ttT	p.F219F	ADRA2C_ENST00000509482.1_Silent_p.F219F	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	219					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGGCTCCTTCTTCGCGCCCT	0.697																																					Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.2		NaN																	0					0						c.(655-657)TTC>TTT		alpha-2C-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						17.0	19.0	18.0					4																	3768990		2186	4284	6470	SO:0001819	synonymous_variant	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768990C>T	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.657C>T	4.37:g.3768990C>T						ADRA2C_uc010icx.2_Silent_p.F219F	p.F219F	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	695	+			219			Helical; Name=5; (By similarity).		P35369|Q9HB49	Silent	SNP	ENST00000330055.5	37	c.657C>T	CCDS47004.1																																																																																				0.697	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1		NM_000683		5	5	0	0	0	1	0	5	5		
SORCS2	57537	broad.mit.edu	37	4	7194756	7194756	+	Nonsense_Mutation	SNP	C	C	A	rs540768105		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:7194756C>A	ENST00000507866.2	+	1	492	c.383C>A	c.(382-384)tCg>tAg	p.S128*		NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	128					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAGTGGCTTCGCGGGCGCAG	0.741																																						uc003gkb.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(382-384)TCG>TAG		VPS10 domain receptor protein SORCS 2 precursor							2.0	3.0	3.0					4																	7194756		484	1195	1679	SO:0001587	stop_gained	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7194756C>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.383C>A	4.37:g.7194756C>A	ENSP00000422185:p.Ser128*						p.S128*	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			1	383	+			128			Lumenal (Potential).		Q9P2L7	Nonsense_Mutation	SNP	ENST00000507866.2	37	c.383C>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.995884	0.93167	.	.	ENSG00000184985	ENST00000507866	.	.	.	3.5	1.75	0.24633	.	.	.	.	.	.	.	.	.	.	.	0.35808	D	0.823621	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	7.0031	0.24821	0.0:0.6767:0.0:0.3233	.	.	.	.	X	128	.	ENSP00000422185:S128X	S	+	2	0	SORCS2	7245657	0.003000	0.15002	0.027000	0.17364	0.020000	0.10135	1.445000	0.35079	0.214000	0.20742	-0.495000	0.04643	TCG		0.741	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4		NM_020777		3	7	1	0	6.4e-05	1	6.66446e-05	3	7		
GPR78	27201	broad.mit.edu	37	4	8583003	8583003	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:8583003G>A	ENST00000382487.4	+	1	711	c.294G>A	c.(292-294)gcG>gcA	p.A98A	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	98					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGAGCGTGGCGGCGCTGAGCG	0.716																																						uc003glk.2		NaN																	0				central_nervous_system(4)|ovary(2)	6						c.(292-294)GCG>GCA		G protein-coupled receptor 78							8.0	9.0	9.0					4																	8583003		2174	4255	6429	SO:0001819	synonymous_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8583003G>A	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.294G>A	4.37:g.8583003G>A						CPZ_uc003gll.2_RNA	p.A98A	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			1	713	+			98			Helical; Name=3; (Potential).		Q8NGV3	Silent	SNP	ENST00000382487.4	37	c.294G>A	CCDS3403.1																																																																																				0.716	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1				7	8	0	0	0	1	0	7	8		
FGFBP2	83888	broad.mit.edu	37	4	15964632	15964632	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:15964632C>T	ENST00000259989.6	-	1	227	c.121G>A	c.(121-123)Gat>Aat	p.D41N	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	41						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTGCAGGAATCTCTCCCTCCA	0.582																																						uc003gon.2		NaN																	0					0						c.(121-123)GAT>AAT		killer-specific secretory protein of 37 kDa							73.0	62.0	65.0					4																	15964632		2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964632C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.121G>A	4.37:g.15964632C>T	ENSP00000259989:p.Asp41Asn						p.D41N	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN			1	228	-			41						Missense_Mutation	SNP	ENST00000259989.6	37	c.121G>A	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863898	0.51482	.	.	ENSG00000137441	ENST00000259989	T	0.15017	2.46	2.98	2.1	0.27182	.	0.066986	0.56097	U	0.000024	T	0.21267	0.0512	L	0.32530	0.975	0.32175	N	0.581095	D	0.58620	0.983	P	0.55260	0.772	T	0.16424	-1.0403	10	0.87932	D	0	0.0	9.9874	0.41849	0.0:0.5982:0.4018:0.0	.	41	Q9BYJ0	FGFP2_HUMAN	N	41	ENSP00000259989:D41N	ENSP00000259989:D41N	D	-	1	0	FGFBP2	15573730	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	3.150000	0.50662	0.200000	0.20447	-0.181000	0.13052	GAT		0.582	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1		NM_031950		15	38	0	0	0	1	0	15	38		
ARAP2	116984	broad.mit.edu	37	4	36122942	36122942	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:36122942C>G	ENST00000303965.4	-	23	4242	c.3753G>C	c.(3751-3753)caG>caC	p.Q1251H		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1251	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTGAGCATTTCTGAACCCTGT	0.338																																						uc003gsq.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3751-3753)CAG>CAC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							87.0	90.0	89.0					4																	36122942		2203	4299	6502	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36122942C>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3753G>C	4.37:g.36122942C>G	ENSP00000302895:p.Gln1251His						p.Q1251H	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			23	4091	-			1251			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.3753G>C	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720418	0.68959	.	.	ENSG00000047365	ENST00000303965	T	0.18810	2.19	5.6	4.76	0.60689	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.059881	0.64402	D	0.000001	T	0.24928	0.0605	L	0.38531	1.155	0.45580	D	0.998526	P	0.43788	0.817	P	0.46685	0.524	T	0.02150	-1.1205	10	0.66056	D	0.02	.	14.7681	0.69654	0.0:0.9308:0.0:0.0692	.	1251	Q8WZ64	ARAP2_HUMAN	H	1251	ENSP00000302895:Q1251H	ENSP00000302895:Q1251H	Q	-	3	2	ARAP2	35799337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.881000	0.28173	1.504000	0.48704	0.650000	0.86243	CAG		0.338	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2		NM_015230		27	77	0	0	0	1	0	27	77		
TLR10	81793	broad.mit.edu	37	4	38776990	38776990	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:38776990C>G	ENST00000308973.4	-	4	827	c.222G>C	c.(220-222)ctG>ctC	p.L74L	TLR10_ENST00000361424.2_Silent_p.L74L|TLR10_ENST00000506111.1_Silent_p.L74L|TLR10_ENST00000508334.1_Silent_p.L74L|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	74					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCAAAACTCTCAGTTTGGAGA	0.388																																						uc003gti.2		NaN																	0				lung(1)|breast(1)	2						c.(220-222)CTG>CTC		toll-like receptor 10 precursor							62.0	63.0	63.0					4																	38776990		2203	4300	6503	SO:0001819	synonymous_variant	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776990C>G	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.222G>C	4.37:g.38776990C>G						TLR10_uc003gtj.2_Silent_p.L74L|TLR10_uc003gtk.2_Silent_p.L74L	p.L74L	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	601	-			74			LRR 3.|Extracellular (Potential).		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	c.222G>C	CCDS3445.1																																																																																				0.388	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1				10	49	0	0	0	1	0	10	49		
KLB	152831	broad.mit.edu	37	4	39450291	39450291	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:39450291G>C	ENST00000257408.4	+	5	3217	c.3120G>C	c.(3118-3120)aaG>aaC	p.K1040N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	1040					carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGAAAGGCAAGAGAGTTGTTA	0.353																																						uc003gua.2		NaN																	0				skin(1)	1						c.(3118-3120)AAG>AAC		klotho beta							74.0	73.0	73.0					4																	39450291		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39450291G>C	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.3120G>C	4.37:g.39450291G>C	ENSP00000257408:p.Lys1040Asn					KLB_uc011byj.1_Missense_Mutation_p.K1031N	p.K1040N	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			5	3217	+			1040			Cytoplasmic (Potential).		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.3120G>C	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	8.170	0.791570	0.16258	.	.	ENSG00000134962	ENST00000257408	T	0.28255	1.62	5.62	2.87	0.33458	.	1.080270	0.07029	N	0.828050	T	0.19366	0.0465	N	0.14661	0.345	0.26075	N	0.98117	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.32428	-0.9907	10	0.19590	T	0.45	-3.4335	9.8186	0.40869	0.0:0.1404:0.5856:0.274	.	1031;1040	B7ZL50;Q86Z14	.;KLOTB_HUMAN	N	1040	ENSP00000257408:K1040N	ENSP00000257408:K1040N	K	+	3	2	KLB	39126686	0.997000	0.39634	0.995000	0.50966	0.140000	0.21249	0.654000	0.24918	0.278000	0.22164	0.313000	0.20887	AAG		0.353	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1		NM_175737		11	85	0	0	0	1	0	11	85		
N4BP2	55728	broad.mit.edu	37	4	40123716	40123716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:40123716G>A	ENST00000261435.6	+	9	4401	c.3985G>A	c.(3985-3987)Gaa>Aaa	p.E1329K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1329					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGATGAAGAAGAATTTATGAA	0.289																																						uc003guy.3		NaN																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(3985-3987)GAA>AAA		Nedd4 binding protein 2							58.0	63.0	61.0					4																	40123716		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123716G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3985G>A	4.37:g.40123716G>A	ENSP00000261435:p.Glu1329Lys					N4BP2_uc010ifq.2_Missense_Mutation_p.E1249K|N4BP2_uc010ifr.2_Missense_Mutation_p.E1249K	p.E1329K	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	4323	+			1329					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3985G>A	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.81|10.81	1.455067|1.455067	0.26161|0.26161	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.21191|.	2.02|.	5.96|5.96	5.11|5.11	0.69529|0.69529	.|.	0.084021|.	0.45867|.	D|.	0.000334|.	T|T	0.59018|0.59018	0.2163|0.2163	L|L	0.50333|0.50333	1.59|1.59	0.39046|0.39046	D|D	0.960235|0.960235	B;B|.	0.28850|.	0.225;0.144|.	B;B|.	0.28849|.	0.095;0.044|.	T|T	0.57734|0.57734	-0.7760|-0.7760	10|5	0.17832|.	T|.	0.49|.	-9.9317|-9.9317	9.0263|9.0263	0.36232|0.36232	0.2056:0.0:0.7944:0.0|0.2056:0.0:0.7944:0.0	.|.	1329;1329|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	K|K	1329;1249|975	ENSP00000261435:E1329K|.	ENSP00000261435:E1329K|.	E|R	+|+	1|2	0|0	N4BP2|N4BP2	39800111|39800111	0.950000|0.950000	0.32346|0.32346	1.000000|1.000000	0.80357|0.80357	0.217000|0.217000	0.24651|0.24651	3.082000|3.082000	0.50128|0.50128	2.825000|2.825000	0.97269|0.97269	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.289	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		30	63	0	0	0	1	0	30	63		
RBM47	54502	broad.mit.edu	37	4	40440385	40440385	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:40440385C>T	ENST00000381793.2	-	3	922	c.526G>A	c.(526-528)Gag>Aag	p.E176K	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Missense_Mutation_p.E176K|RBM47_ENST00000514014.1_Missense_Mutation_p.E138K|RBM47_ENST00000381795.6_Missense_Mutation_p.E176K|RBM47_ENST00000295971.7_Missense_Mutation_p.E176K			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	176	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCACGCCCTCGGTGACCTTG	0.637																																						uc003gvc.2		NaN																	0				breast(3)	3						c.(526-528)GAG>AAG		RNA binding motif protein 47 isoform a							71.0	63.0	65.0					4																	40440385		2203	4299	6502	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440385C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.526G>A	4.37:g.40440385C>T	ENSP00000371212:p.Glu176Lys					RBM47_uc003gvd.2_Missense_Mutation_p.E176K|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.E138K|RBM47_uc003gvg.1_Missense_Mutation_p.E176K	p.E176K	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1236	-			176			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.526G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118569	0.56505	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473	T;T;T;T;T;T;T	0.24908	2.29;2.29;2.29;2.29;2.29;2.29;1.83	5.47	4.62	0.57501	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	M	0.70787	2.145	0.80722	D	1	D;P	0.76494	0.999;0.896	D;P	0.77557	0.99;0.693	T	0.51068	-0.8752	10	0.66056	D	0.02	-29.6041	14.6323	0.68666	0.0:0.9286:0.0:0.0714	.	176;176	A0AV96-2;A0AV96	.;RBM47_HUMAN	K	176;176;176;176;138;176;176	ENSP00000320108:E176K;ENSP00000371212:E176K;ENSP00000371214:E176K;ENSP00000295971:E176K;ENSP00000423243:E138K;ENSP00000422564:E176K;ENSP00000421589:E176K	ENSP00000295971:E176K	E	-	1	0	RBM47	40135142	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	6.089000	0.71384	2.573000	0.86826	0.313000	0.20887	GAG		0.637	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2		NM_019027		24	89	0	0	0	1	0	24	89		
GABRB1	2560	broad.mit.edu	37	4	47163397	47163397	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:47163397G>A	ENST00000295454.3	+	4	664	c.372G>A	c.(370-372)ctG>ctA	p.L124L	GABRB1_ENST00000538619.1_Silent_p.L54L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	124					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	CCTACTTTCTGAATGACAAGA	0.443																																						uc003gxh.2		NaN																	0				ovary(2)	2						c.(370-372)CTG>CTA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						160.0	155.0	157.0					4																	47163397		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47163397G>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.372G>A	4.37:g.47163397G>A						GABRB1_uc011bze.1_Silent_p.L54L	p.L124L	NM_000812	NP_000803	P18505	GBRB1_HUMAN			4	746	+			124			Extracellular (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.372G>A	CCDS3474.1																																																																																				0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1				31	116	0	0	0	1	0	31	116		
LRRC66	339977	broad.mit.edu	37	4	52861501	52861501	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:52861501G>T	ENST00000343457.3	-	4	1693	c.1687C>A	c.(1687-1689)Cac>Aac	p.H563N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	563						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAGACAGCGTGAGACGTGCCA	0.483																																						uc003gzi.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1687-1689)CAC>AAC		leucine rich repeat containing 66							100.0	111.0	107.0					4																	52861501		2176	4293	6469	SO:0001583	missense	339977					integral to membrane		g.chr4:52861501G>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1687C>A	4.37:g.52861501G>T	ENSP00000341944:p.His563Asn						p.H563N	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1700	-			563						Missense_Mutation	SNP	ENST00000343457.3	37	c.1687C>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	5.827	0.336914	0.11013	.	.	ENSG00000188993	ENST00000343457	T	0.80738	-1.41	4.02	1.11	0.20524	.	2.844790	0.01017	N	0.003932	T	0.66829	0.2829	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.51616	-0.8683	10	0.23302	T	0.38	1.7795	6.555	0.22456	0.0:0.2133:0.3313:0.4554	.	563	Q68CR7	LRC66_HUMAN	N	563	ENSP00000341944:H563N	ENSP00000341944:H563N	H	-	1	0	LRRC66	52556258	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.477000	0.22196	0.064000	0.16427	-0.282000	0.10007	CAC		0.483	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1		NM_001024611		52	120	1	0	2.79147e-13	1	3.15731e-13	52	120		
KIT	3815	broad.mit.edu	37	4	55570029	55570029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55570029C>T	ENST00000288135.5	+	5	993	c.896C>T	c.(895-897)gCa>gTa	p.A299V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	299	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGGATCAGCAAATGTCACA	0.358		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		0				soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(895-897)GCA>GTA		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						172.0	168.0	169.0					4																	55570029		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55570029C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.896C>T	4.37:g.55570029C>T	ENSP00000288135:p.Ala299Val					KIT_uc010igs.2_Missense_Mutation_p.A299V	p.A299V	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	5	983	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		299			Extracellular (Potential).|Ig-like C2-type 3.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.896C>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217466	0.58560	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	D;D	0.84070	-1.8;-1.8	6.01	6.01	0.97437	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.095764	0.45867	D	0.000336	T	0.76004	0.3927	L	0.42245	1.32	0.43841	D	0.996428	B;P	0.37330	0.295;0.59	B;B	0.28305	0.068;0.088	T	0.73547	-0.3948	10	0.22109	T	0.4	.	18.7017	0.91623	0.0:1.0:0.0:0.0	.	299;299	P10721-2;P10721	.;KIT_HUMAN	V	299	ENSP00000288135:A299V;ENSP00000390987:A299V	ENSP00000288135:A299V	A	+	2	0	KIT	55264786	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.253000	0.51469	2.861000	0.98227	0.650000	0.86243	GCA		0.358	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1				17	103	0	0	0	1	0	17	103		
KDR	3791	broad.mit.edu	37	4	55961025	55961025	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55961025G>A	ENST00000263923.4	-	21	3210	c.2915C>T	c.(2914-2916)tCa>tTa	p.S972L	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	972	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGCTGGCTGAGCTCTGGCT	0.527			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NaN		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2914-2916)TCA>TTA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						129.0	122.0	124.0					4																	55961025		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55961025G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2915C>T	4.37:g.55961025G>A	ENSP00000263923:p.Ser972Leu	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.S972L	p.S972L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3217	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		972			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2915C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764443	0.49574	.	.	ENSG00000128052	ENST00000263923	T	0.77358	-1.09	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060522	0.64402	D	0.000002	T	0.63546	0.2520	N	0.16098	0.37	0.58432	D	0.999997	B	0.23806	0.091	B	0.22386	0.039	T	0.60796	-0.7192	10	0.07175	T	0.84	.	20.2057	0.98277	0.0:0.0:1.0:0.0	.	972	P35968	VGFR2_HUMAN	L	972	ENSP00000263923:S972L	ENSP00000263923:S972L	S	-	2	0	KDR	55655782	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.036000	0.93758	2.780000	0.95670	0.655000	0.94253	TCA		0.527	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1				34	81	0	0	0	1	0	34	81		
KDR	3791	broad.mit.edu	37	4	55968171	55968171	+	Missense_Mutation	SNP	C	C	T	rs375909858		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55968171C>T	ENST00000263923.4	-	15	2454	c.2159G>A	c.(2158-2160)cGg>cAg	p.R720Q		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	720	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGAGGTTCCGGTTCCCATC	0.438			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NaN		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2158-2160)CGG>CAG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)	C	GLN/ARG	0,4406		0,0,2203	131.0	123.0	126.0		2159	3.2	1.0	4		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	KDR	NM_002253.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	720/1357	55968171	1,13005	2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55968171C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2159G>A	4.37:g.55968171C>T	ENSP00000263923:p.Arg720Gln	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.R720Q	p.R720Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		15	2461	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		720			Ig-like C2-type 7.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2159G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	9.207	1.029857	0.19512	0.0	1.16E-4	ENSG00000128052	ENST00000263923	T	0.66280	-0.2	5.97	3.19	0.36642	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.265191	0.37577	N	0.002035	T	0.37571	0.1008	N	0.13235	0.315	0.44104	D	0.996872	B	0.20780	0.048	B	0.21708	0.036	T	0.22591	-1.0212	10	0.02654	T	1	.	9.6054	0.39630	0.0:0.674:0.0:0.326	.	720	P35968	VGFR2_HUMAN	Q	720	ENSP00000263923:R720Q	ENSP00000263923:R720Q	R	-	2	0	KDR	55662928	0.975000	0.34042	0.999000	0.59377	0.894000	0.52154	1.124000	0.31320	0.348000	0.23949	0.650000	0.86243	CGG		0.438	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1				18	95	0	0	0	1	0	18	95		
TECRL	253017	broad.mit.edu	37	4	65147237	65147237	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:65147237G>A	ENST00000381210.3	-	10	983	c.873C>T	c.(871-873)ttC>ttT	p.F291F	TECRL_ENST00000507440.1_Silent_p.F291F	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	291					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACATCCATGTGAAGGGGTTAT	0.338																																						uc003hcv.2		NaN																	0					0						c.(871-873)TTC>TTT		steroid 5 alpha-reductase 2-like 2							106.0	103.0	104.0					4																	65147237		2203	4300	6503	SO:0001819	synonymous_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65147237G>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.873C>T	4.37:g.65147237G>A						TECRL_uc010ihi.2_RNA	p.F291F	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			10	982	-			291						Silent	SNP	ENST00000381210.3	37	c.873C>T	CCDS33990.1																																																																																				0.338	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4		NM_001010874		11	60	0	0	0	1	0	11	60		
UGT2B27P	54569	broad.mit.edu	37	4	69885667	69885667	+	IGR	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:69885667C>G								UGT2A3 (68158 upstream) : UGT2B7 (31526 downstream)																							AAAACGATGTCAAATCTTGAC	0.368																																						uc011cao.1		NaN																	0				skin(3)|ovary(2)	5						c.(322-324)GAC>CAC		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							83.0	60.0	67.0					4																	69885667		692	1590	2282	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69885667C>G																													4.37:g.69885667C>G						UGT2B10_uc011can.1_Missense_Mutation_p.D108H	p.D108H			P36537	UDB10_HUMAN			4	458	-			145						Missense_Mutation	SNP		37	c.322G>C																																																																																				0	0.368										22	83	0	0	0	1	0	22	83		
UGT2B28	54490	broad.mit.edu	37	4	70146759	70146759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:70146759G>A	ENST00000335568.5	+	1	543	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E181K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	181					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CTACACAATTGAAAGGCACAG	0.418																																						uc003hej.2		NaN																	0				skin(1)	1						c.(541-543)GAA>AAA		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						106.0	113.0	111.0					4																	70146759		2043	4241	6284	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146759G>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.541G>A	4.37:g.70146759G>A	ENSP00000334276:p.Glu181Lys					UGT2B28_uc010ihr.2_Missense_Mutation_p.E181K	p.E181K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			1	543	+			181					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.541G>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	15.61	2.884068	0.51908	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.60672	0.17;0.17	2.18	2.18	0.27775	.	0.000000	0.64402	U	0.000006	T	0.80127	0.4566	H	0.95539	3.685	0.19300	N	0.999971	D;D	0.71674	0.998;0.977	D;P	0.87578	0.998;0.904	T	0.70479	-0.4860	10	0.87932	D	0	.	10.0404	0.42155	0.0:0.0:1.0:0.0	.	181;181	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	K	181	ENSP00000334276:E181K;ENSP00000427399:E181K	ENSP00000334276:E181K	E	+	1	0	UGT2B28	70181348	1.000000	0.71417	0.012000	0.15200	0.011000	0.07611	4.437000	0.59955	1.229000	0.43630	0.184000	0.17185	GAA		0.418	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2		NM_053039		47	31	0	0	0	1	0	47	31		
ADAMTS3	9508	broad.mit.edu	37	4	73179451	73179451	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:73179451C>G	ENST00000286657.4	-	12	1724	c.1688G>C	c.(1687-1689)tGt>tCt	p.C563S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	563	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTCCGAGAACAGGAGCCAAA	0.423																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NaN																	0				ovary(1)|lung(1)	2						c.(1687-1689)TGT>TCT		ADAM metallopeptidase with thrombospondin type 1							137.0	106.0	116.0					4																	73179451		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73179451C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1688G>C	4.37:g.73179451C>G	ENSP00000286657:p.Cys563Ser					ADAMTS3_uc003hgl.2_5'Flank	p.C563S	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1725	-			563			TSP type-1 1.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1688G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905167	0.92035	.	.	ENSG00000156140	ENST00000286657	D	0.98585	-5.01	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	H	0.99565	4.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97734	1.0204	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	563	O15072	ATS3_HUMAN	S	563	ENSP00000286657:C563S	ENSP00000286657:C563S	C	-	2	0	ADAMTS3	73398315	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.818000	0.86416	2.857000	0.98124	0.650000	0.86243	TGT		0.423	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2				21	43	0	0	0	1	0	21	43		
SHROOM3	57619	broad.mit.edu	37	4	77660799	77660799	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77660799C>A	ENST00000296043.6	+	5	2426	c.1473C>A	c.(1471-1473)ctC>ctA	p.L491L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	491					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACGGTATGCTCTACCCTGCAC	0.562																																						uc011cbx.1		NaN																	0				skin(2)|ovary(1)	3						c.(1471-1473)CTC>CTA		shroom family member 3 protein							102.0	104.0	103.0					4																	77660799		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660799C>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1473C>A	4.37:g.77660799C>A						SHROOM3_uc011cbz.1_Silent_p.L315L|SHROOM3_uc003hkf.1_Silent_p.L366L|SHROOM3_uc003hkg.2_Silent_p.L269L	p.L491L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	2426	+			491					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.1473C>A	CCDS3579.2																																																																																				0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2		NM_020859		16	86	1	0	9.16793e-09	1	9.97547e-09	16	86		
SEPT11	55752	broad.mit.edu	37	4	77933056	77933056	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77933056G>C	ENST00000264893.6	+	4	708	c.507G>C	c.(505-507)atG>atC	p.M169I	SEPT11_ENST00000502584.1_Missense_Mutation_p.M169I|SEPT11_ENST00000505788.1_Missense_Mutation_p.M169I|SEPT11_ENST00000541121.1_Missense_Mutation_p.M179I|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Missense_Mutation_p.M179I	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	169	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TGGTCACCATGAAAAAGCTGG	0.433																																						uc003hkj.2		NaN																	0					0						c.(505-507)ATG>ATC		septin 11							112.0	101.0	105.0					4																	77933056		2203	4300	6503	SO:0001583	missense	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77933056G>C	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.507G>C	4.37:g.77933056G>C	ENSP00000264893:p.Met169Ile					SEPT11_uc010ijh.1_Missense_Mutation_p.M161I|SEPT11_uc011cca.1_Missense_Mutation_p.M179I|SEPT11_uc003hkk.1_5'Flank	p.M169I	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN			4	669	+			169					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	c.507G>C	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607611	0.87157	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	M	0.90425	3.115	0.58432	D	0.999995	D;D	0.55605	0.965;0.972	P;D	0.62955	0.852;0.909	T	0.83050	-0.0153	10	0.87932	D	0	.	17.9893	0.89164	0.0:0.0:1.0:0.0	.	179;169	Q9NVA2-2;Q9NVA2	.;SEP11_HUMAN	I	169;169;161;169;179;179	ENSP00000264893:M169I;ENSP00000426344:M169I;ENSP00000420839:M161I;ENSP00000424925:M169I;ENSP00000422896:M179I;ENSP00000443701:M179I	ENSP00000264893:M169I	M	+	3	0	SEPT11	78152080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.327000	0.79052	0.467000	0.42956	ATG		0.433	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1		NM_018243		12	74	0	0	0	1	0	12	74		
SEPT11	55752	broad.mit.edu	37	4	77941663	77941663	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77941663G>A	ENST00000264893.6	+	7	994	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	SEPT11_ENST00000502584.1_Missense_Mutation_p.E265K|SEPT11_ENST00000505788.1_Missense_Mutation_p.E265K|SEPT11_ENST00000541121.1_Missense_Mutation_p.E275K|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Missense_Mutation_p.E275K	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	265	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGTTGAGAATGAAAATCATTG	0.458																																						uc003hkj.2		NaN																	0					0						c.(793-795)GAA>AAA		septin 11							88.0	87.0	88.0					4																	77941663		2203	4300	6503	SO:0001583	missense	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77941663G>A	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.793G>A	4.37:g.77941663G>A	ENSP00000264893:p.Glu265Lys					SEPT11_uc010ijh.1_Missense_Mutation_p.E257K|SEPT11_uc011cca.1_Missense_Mutation_p.E275K|SEPT11_uc003hkk.1_Missense_Mutation_p.E65K	p.E265K	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN			7	955	+			265					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	c.793G>A	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362487	0.95877	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.61825	0.2378	M	0.83774	2.66	0.58432	D	0.999999	P;D;P	0.53312	0.915;0.959;0.931	P;P;P	0.59546	0.779;0.764;0.859	T	0.66705	-0.5856	10	0.56958	D	0.05	.	18.8248	0.92114	0.0:0.0:1.0:0.0	.	275;257;265	Q9NVA2-2;D6RDU5;Q9NVA2	.;.;SEP11_HUMAN	K	265;265;257;265;275;275	ENSP00000264893:E265K;ENSP00000426344:E265K;ENSP00000420839:E257K;ENSP00000424925:E265K;ENSP00000422896:E275K;ENSP00000443701:E275K	ENSP00000264893:E265K	E	+	1	0	SEPT11	78160687	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.476000	0.97823	2.438000	0.82558	0.591000	0.81541	GAA		0.458	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1		NM_018243		13	93	0	0	0	1	0	13	93		
SEC31A	22872	broad.mit.edu	37	4	83788011	83788011	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:83788011G>A	ENST00000395310.2	-	10	1329	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	SEC31A_ENST00000432794.1_Silent_p.L383L|SEC31A_ENST00000508479.1_Silent_p.L383L|SEC31A_ENST00000311785.7_Silent_p.L383L|SEC31A_ENST00000448323.1_Silent_p.L383L|SEC31A_ENST00000326950.5_Silent_p.L383L|SEC31A_ENST00000509142.1_Silent_p.L383L|SEC31A_ENST00000508502.1_Silent_p.L383L|SEC31A_ENST00000513858.1_Silent_p.L383L|SEC31A_ENST00000264405.5_Silent_p.L155L|SEC31A_ENST00000443462.2_Silent_p.L378L|SEC31A_ENST00000500777.2_Silent_p.L383L|SEC31A_ENST00000355196.2_Silent_p.L383L|SEC31A_ENST00000505472.1_Silent_p.L383L|SEC31A_ENST00000505984.1_Silent_p.L383L|SEC31A_ENST00000348405.4_Silent_p.L383L|SEC31A_ENST00000436790.2_5'UTR	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	383	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGCTTCTTCAGAGGCAGCACT	0.458																																						uc003hnf.2		NaN																SEC31A/JAK2(4)|SEC31A/ALK(3)	0				haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(1147-1149)CTG>TTG		SEC31 homolog A isoform 1							126.0	130.0	129.0					4																	83788011		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83788011G>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1147C>T	4.37:g.83788011G>A						SEC31A_uc003hne.2_Silent_p.L155L|SEC31A_uc011ccl.1_Silent_p.L383L|SEC31A_uc003hnl.2_Silent_p.L383L|SEC31A_uc003hng.2_Silent_p.L383L|SEC31A_uc003hnh.2_Silent_p.L383L|SEC31A_uc003hni.2_Silent_p.L383L|SEC31A_uc003hnj.2_Silent_p.L383L|SEC31A_uc011ccm.1_Silent_p.L378L|SEC31A_uc011ccn.1_Silent_p.L383L|SEC31A_uc003hnk.2_Silent_p.L383L|SEC31A_uc003hnm.2_Silent_p.L383L|SEC31A_uc003hnn.1_Silent_p.L383L|SEC31A_uc003hno.2_Silent_p.L383L	p.L383L	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			10	1311	-		Hepatocellular(203;0.114)	383			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.1147C>T	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	G	8.669	0.902266	0.17760	.	.	ENSG00000138674	ENST00000507828	.	.	.	5.06	2.92	0.33932	.	.	.	.	.	T	0.58963	0.2159	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55768	-0.8089	4	.	.	.	-9.4927	9.4627	0.38794	0.2693:0.0:0.7307:0.0	.	.	.	.	F	25	.	.	S	-	2	0	SEC31A	84007035	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.612000	0.54142	1.254000	0.44035	0.573000	0.79308	TCT		0.458	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1		NM_016211		43	135	0	0	0	1	0	43	135		
CDS1	1040	broad.mit.edu	37	4	85556483	85556483	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:85556483T>G	ENST00000295887.5	+	8	1212	c.789T>G	c.(787-789)ttT>ttG	p.F263L		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.G264fs*7(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GATTTTTTTTTGGGAGAACTC	0.318																																						uc011ccv.1		NaN																	2	Insertion - Frameshift(2)	p.G264fs*7(2)	large_intestine(2)	large_intestine(2)|ovary(1)|breast(1)	4						c.(787-789)TTT>TTG		CDP-diacylglycerol synthase 1																																				SO:0001583	missense	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85556483T>G	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.789T>G	4.37:g.85556483T>G	ENSP00000295887:p.Phe263Leu					CDS1_uc010ike.1_Missense_Mutation_p.F67L	p.F263L	NM_001263	NP_001254	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	8	1287	+		Hepatocellular(203;0.114)	263					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	c.789T>G	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.398601	0.83120	.	.	ENSG00000163624	ENST00000295887	T	0.52526	0.66	5.65	1.88	0.25563	.	0.096235	0.85682	N	0.000000	T	0.50548	0.1622	L	0.48877	1.53	0.80722	D	1	P	0.41131	0.739	P	0.56088	0.791	T	0.38308	-0.9667	10	0.33940	T	0.23	-8.9455	6.324	0.21232	0.0:0.1404:0.1349:0.7247	.	263	Q92903	CDS1_HUMAN	L	263	ENSP00000295887:F263L	ENSP00000295887:F263L	F	+	3	2	CDS1	85775507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.478000	0.53158	0.398000	0.25338	0.482000	0.46254	TTT		0.318	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2				15	85	0	0	0	1	0	15	85		
AFF1	4299	broad.mit.edu	37	4	88036295	88036295	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:88036295G>A	ENST00000307808.6	+	11	2709	c.2289G>A	c.(2287-2289)gtG>gtA	p.V763V	AFF1_ENST00000395146.4_Silent_p.V770V|AFF1_ENST00000544085.1_Silent_p.V401V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	763					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCTTGATGGTGAAGATCACCC	0.592																																						uc003hqj.3		NaN																	0				breast(1)	1						c.(2287-2289)GTG>GTA		myeloid/lymphoid or mixed-lineage leukemia							74.0	68.0	70.0					4																	88036295		2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88036295G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2289G>A	4.37:g.88036295G>A						AFF1_uc011ccz.1_Silent_p.V770V|AFF1_uc003hqk.3_Silent_p.V763V|AFF1_uc011cda.1_Silent_p.V401V	p.V763V	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2696	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	763					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.2289G>A	CCDS3616.1																																																																																				0.592	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3		NM_005935		15	61	0	0	0	1	0	15	61		
SPARCL1	8404	broad.mit.edu	37	4	88394928	88394928	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:88394928C>G	ENST00000282470.6	-	11	2464	c.1994G>C	c.(1993-1995)tGa>tCa	p.*665S	SPARCL1_ENST00000418378.1_Nonstop_Mutation_p.*665S|SPARCL1_ENST00000503414.1_Nonstop_Mutation_p.*540S	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	0					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AATCTTCGTTCAAAACAAGAG	0.323																																						uc010ikm.2		NaN																	0				ovary(1)	1						c.(1993-1995)TGA>TCA		SPARC-like 1 precursor							94.0	102.0	99.0					4																	88394928		2203	4300	6503	SO:0001578	stop_lost	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88394928C>G	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1994G>C	4.37:g.88394928C>G						SPARCL1_uc011cdc.1_Nonstop_Mutation_p.*540S|SPARCL1_uc003hqs.3_Nonstop_Mutation_p.*665S|SPARCL1_uc011cdd.1_Nonstop_Mutation_p.*540S	p.*665S	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	12	2566	-			665					B4E2Z0|E7ESU2|Q14800	Nonstop_Mutation	SNP	ENST00000282470.6	37	c.1994G>C	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827827	0.50845	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5793	0.76422	0.0:1.0:0.0:0.0	.	.	.	.	S	665;665;540;540	.	.	X	-	2	2	SPARCL1	88613952	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.021000	0.41020	2.619000	0.88677	0.655000	0.94253	TGA		0.323	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2				15	93	0	0	0	1	0	15	93		
ADH1B	125	broad.mit.edu	37	4	100235088	100235088	+	Missense_Mutation	SNP	C	C	T	rs75973598		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:100235088C>T	ENST00000305046.8	-	6	785	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ADH1B_ENST00000394887.3_Missense_Mutation_p.E200K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	240					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTGATGCATTCAGTGGCACCC	0.468																																						uc003hus.3		NaN																	0				ovary(1)|breast(1)	2						c.(718-720)GAA>AAA		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)						228.0	227.0	227.0					4																	100235088		2203	4297	6500	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100235088C>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.718G>A	4.37:g.100235088C>T	ENSP00000306606:p.Glu240Lys					ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.E200K|ADH1B_uc011ceh.1_Missense_Mutation_p.E85K|ADH1B_uc011cei.1_Missense_Mutation_p.E200K	p.E240K	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	6	802	-			240					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.718G>A	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950822	0.92660	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.04603	3.59;3.59	3.81	3.81	0.43845	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.171732	0.50627	D	0.000117	T	0.22205	0.0535	M	0.84219	2.685	0.80722	D	1	P;D;D	0.61080	0.928;0.989;0.961	D;D;D	0.66602	0.909;0.945;0.941	T	0.07177	-1.0786	10	0.87932	D	0	-23.9992	15.683	0.77388	0.0:1.0:0.0:0.0	.	227;200;240	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	K	240;200;227	ENSP00000306606:E240K;ENSP00000378351:E200K	ENSP00000306606:E240K	E	-	1	0	ADH1B	100454111	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.074000	0.76791	1.641000	0.50575	0.561000	0.74099	GAA		0.468	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1		NM_000668		77	427	0	0	0	1	0	77	427		
TACR3	6870	broad.mit.edu	37	4	104640753	104640753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:104640753G>A	ENST00000304883.2	-	1	220	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	27					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCTAGCGAGGCGGTCAG	0.682																																						uc003hxe.1		NaN																	0				ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(79-81)TCG>TTG		tachykinin receptor 3							35.0	41.0	39.0					4																	104640753		2202	4298	6500	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640753G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.80C>T	4.37:g.104640753G>A	ENSP00000303325:p.Ser27Leu						p.S27L	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	223	-		Hepatocellular(203;0.217)	27			Extracellular (Potential).		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.80C>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229969	0.39399	.	.	ENSG00000169836	ENST00000304883	T	0.65549	-0.16	3.79	1.91	0.25777	.	2.401710	0.02268	N	0.068206	T	0.47173	0.1431	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38824	-0.9643	10	0.56958	D	0.05	.	3.3382	0.07108	0.2085:0.0:0.5679:0.2236	.	27	P29371	NK3R_HUMAN	L	27	ENSP00000303325:S27L	ENSP00000303325:S27L	S	-	2	0	TACR3	104860202	0.000000	0.05858	0.015000	0.15790	0.309000	0.27889	-0.260000	0.08708	0.741000	0.32674	0.313000	0.20887	TCG		0.682	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1		NM_001059		7	49	0	0	0	1	0	7	49		
TBCK	93627	broad.mit.edu	37	4	107165844	107165844	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:107165844C>T	ENST00000273980.5	-	12	1456	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	TBCK_ENST00000361687.4_Missense_Mutation_p.E274K|TBCK_ENST00000394708.2_Missense_Mutation_p.E337K|TBCK_ENST00000394706.3_Missense_Mutation_p.E298K|TBCK_ENST00000432496.2_Missense_Mutation_p.E337K					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGCTCTTTCTCCAAGTCACCT	0.353																																						uc010ilv.2		NaN																	0				large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						c.(1009-1011)GAG>AAG		TBC domain-containing protein kinase-like							114.0	108.0	110.0					4																	107165844		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107165844C>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1009G>A	4.37:g.107165844C>T	ENSP00000273980:p.Glu337Lys					TBCK_uc003hyb.2_Missense_Mutation_p.E80K|TBCK_uc003hye.2_Missense_Mutation_p.E298K|TBCK_uc003hyc.2_Missense_Mutation_p.E274K|TBCK_uc003hyd.2_Missense_Mutation_p.E165K|TBCK_uc003hyf.2_Missense_Mutation_p.E337K	p.E337K	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN			11	1374	-			337						Missense_Mutation	SNP	ENST00000273980.5	37	c.1009G>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	36	5.614036	0.96637	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	M	0.65498	2.005	0.80722	D	1	D;D;P	0.76494	0.986;0.999;0.941	P;D;P	0.68483	0.805;0.958;0.734	T	0.05386	-1.0888	10	0.46703	T	0.11	.	18.566	0.91116	0.0:1.0:0.0:0.0	.	337;298;274	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	K	337;337;274;298;337	ENSP00000273980:E337K;ENSP00000405847:E337K;ENSP00000355338:E274K;ENSP00000378196:E298K;ENSP00000378198:E337K	ENSP00000273980:E337K	E	-	1	0	TBCK	107385293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.610000	0.82949	2.370000	0.80446	0.644000	0.83932	GAG		0.353	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4		NM_033115		21	71	0	0	0	1	0	21	71		
KIAA1109	84162	broad.mit.edu	37	4	123118351	123118351	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:123118351G>C	ENST00000264501.4	+	13	1583	c.1210G>C	c.(1210-1212)Gaa>Caa	p.E404Q	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Splice_Site_p.E404Q|KIAA1109_ENST00000388738.3_Splice_Site_p.E404Q			Q2LD37	K1109_HUMAN	KIAA1109	404					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTTTGGTAGGAAACAAATGC	0.259																																						uc003ieh.2		NaN																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1210-1212)GAA>CAA		fragile site-associated protein							36.0	36.0	36.0					4																	123118351		1771	4014	5785	SO:0001630	splice_region_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123118351G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1210-1G>C	4.37:g.123118351G>C						KIAA1109_uc003iei.1_Missense_Mutation_p.E158Q|KIAA1109_uc010ins.1_5'UTR	p.E404Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			11	1255	+			404					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.1210G>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.948632|4.948632	0.92593|0.92593	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	D;D;D|.	0.95377|.	-3.69;-3.69;-3.69|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	5.954530|.	0.00465|.	N|.	0.000103|.	T|T	0.74298|0.74298	0.3698|0.3698	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.75484|.	0.986|.	T|T	0.71206|0.71206	-0.4661|-0.4661	9|5	.|.	.|.	.|.	.|.	19.7617|19.7617	0.96321|0.96321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	404|.	Q2LD37|.	K1109_HUMAN|.	Q|A	404|236	ENSP00000264501:E404Q;ENSP00000373390:E404Q;ENSP00000389925:E404Q|.	.|.	E|G	+|+	1|2	0|0	KIAA1109|KIAA1109	123337801|123337801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.365000|6.365000	0.73090|0.73090	2.671000|2.671000	0.90904|0.90904	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.259	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797	Missense_Mutation	16	49	0	0	0	1	0	16	49		
FAT4	79633	broad.mit.edu	37	4	126367492	126367492	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:126367492C>T	ENST00000394329.3	+	8	7251	c.7238C>T	c.(7237-7239)tCg>tTg	p.S2413L	FAT4_ENST00000335110.5_Missense_Mutation_p.S711L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2413	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCAACCCATCGACAGGACAA	0.408																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(7237-7239)TCG>TTG		FAT tumor suppressor homolog 4 precursor							112.0	109.0	110.0					4																	126367492		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126367492C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7238C>T	4.37:g.126367492C>T	ENSP00000377862:p.Ser2413Leu					FAT4_uc011cgp.1_Missense_Mutation_p.S711L|FAT4_uc003ifi.1_5'Flank	p.S2413L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			8	7238	+			2413			Cadherin 23.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7238C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	32	5.132758	0.94517	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.52754	0.65;0.65	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.000000	0.33309	U	0.005053	T	0.56615	0.1997	L	0.55213	1.73	0.58432	D	0.999997	P;D	0.63880	0.899;0.993	B;P	0.51999	0.414;0.687	T	0.48801	-0.9003	10	0.27082	T	0.32	.	19.8199	0.96589	0.0:1.0:0.0:0.0	.	711;2413	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	L	2413;711	ENSP00000377862:S2413L;ENSP00000335169:S711L	ENSP00000335169:S711L	S	+	2	0	FAT4	126586942	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.511000	0.81718	2.677000	0.91161	0.655000	0.94253	TCG		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		15	109	0	0	0	1	0	15	109		
PCDH18	54510	broad.mit.edu	37	4	138452282	138452282	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:138452282C>T	ENST00000344876.4	-	1	1347	c.961G>A	c.(961-963)Gag>Aag	p.E321K	PCDH18_ENST00000507846.1_Missense_Mutation_p.E101K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E321K|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	321	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACATCAATCTCATAGGATTTG	0.343																																						uc003ihe.3		NaN																	0				pancreas(3)|skin(2)	5						c.(961-963)GAG>AAG		protocadherin 18 precursor							32.0	36.0	35.0					4																	138452282		2197	4297	6494	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452282C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.961G>A	4.37:g.138452282C>T	ENSP00000355082:p.Glu321Lys					PCDH18_uc003ihf.3_Missense_Mutation_p.E314K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E101K|PCDH18_uc011cha.1_Intron	p.E321K	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	1348	-	all_hematologic(180;0.24)		321			Cadherin 3.|Extracellular (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.961G>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663639	0.88251	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.54071	0.59;0.59;0.59	5.79	5.79	0.91817	Cadherin (5);Cadherin-like (1);	0.000000	0.43747	D	0.000529	T	0.72969	0.3527	M	0.72479	2.2	0.80722	D	1	D;D;D	0.76494	0.961;0.999;0.982	P;D;P	0.71870	0.887;0.975;0.794	T	0.72491	-0.4277	10	0.52906	T	0.07	.	20.0326	0.97545	0.0:1.0:0.0:0.0	.	101;321;321	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	K	321;321;101	ENSP00000355082:E321K;ENSP00000390688:E321K;ENSP00000425903:E101K	ENSP00000355082:E321K	E	-	1	0	PCDH18	138671732	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.770000	0.85390	2.732000	0.93576	0.557000	0.71058	GAG		0.343	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1		NM_019035		10	58	0	0	0	1	0	10	58		
TBC1D9	23158	broad.mit.edu	37	4	141677148	141677148	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:141677148C>T	ENST00000442267.2	-	1	126	c.52G>A	c.(52-54)Gag>Aag	p.E18K	RP11-102N12.3_ENST00000609937.1_lincRNA	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	18							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTGGCCCTCTCGGTGATCCAC	0.701																																						uc010ioj.2		NaN																	0				ovary(1)	1						c.(52-54)GAG>AAG		TBC1 domain family, member 9 (with GRAM domain)							27.0	31.0	30.0					4																	141677148		2082	4236	6318	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141677148C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.52G>A	4.37:g.141677148C>T	ENSP00000411197:p.Glu18Lys						p.E18K	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			1	324	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	18					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.52G>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249280	0.59103	.	.	ENSG00000109436	ENST00000442267	T	0.24350	1.86	2.19	2.19	0.27852	.	0.481929	0.17642	U	0.167018	T	0.25494	0.0620	L	0.49778	1.585	0.80722	D	1	B	0.20368	0.044	B	0.24006	0.05	T	0.22138	-1.0225	10	0.66056	D	0.02	.	12.6692	0.56858	0.0:1.0:0.0:0.0	.	18	Q6ZT07	TBCD9_HUMAN	K	18	ENSP00000411197:E18K	ENSP00000411197:E18K	E	-	1	0	TBC1D9	141896598	1.000000	0.71417	0.988000	0.46212	0.791000	0.44710	5.989000	0.70587	1.207000	0.43291	0.305000	0.20034	GAG		0.701	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1		NM_015130		5	12	0	0	0	1	0	5	12		
PRMT9	90826	broad.mit.edu	37	4	148575400	148575400	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:148575400G>C	ENST00000322396.6	-	9	1890	c.1648C>G	c.(1648-1650)Cca>Gca	p.P550A	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.P437A	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		550	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AGTTTCTCTGGAGTCAGTGAA	0.388																																						uc003ilc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1648-1650)CCA>GCA		protein arginine methyltransferase 10							171.0	158.0	163.0					4																	148575400		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148575400G>C																												ENST00000322396.6:c.1648C>G	4.37:g.148575400G>C	ENSP00000314396:p.Pro550Ala					PRMT10_uc003ilb.2_Missense_Mutation_p.P194A|PRMT10_uc003ild.2_Missense_Mutation_p.P437A	p.P550A	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			9	1790	-			550					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1648C>G	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	G	9.518	1.107564	0.20714	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.36878	1.23;1.23	6.04	5.19	0.71726	.	0.082196	0.53938	D	0.000057	T	0.36331	0.0963	M	0.70595	2.14	0.39619	D	0.969999	B	0.15719	0.014	B	0.09377	0.004	T	0.41070	-0.9529	10	0.05833	T	0.94	-41.0103	16.7311	0.85435	0.0:0.0:0.8696:0.1304	.	550	Q6P2P2	ANM10_HUMAN	A	550;437	ENSP00000314396:P550A;ENSP00000439508:P437A	ENSP00000314396:P550A	P	-	1	0	PRMT10	148794850	0.999000	0.42202	0.754000	0.31244	0.723000	0.41478	3.327000	0.52045	1.547000	0.49401	-0.314000	0.08810	CCA		0.388	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1				31	95	0	0	0	1	0	31	95		
FHDC1	85462	broad.mit.edu	37	4	153896615	153896615	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:153896615G>A	ENST00000511601.1	+	12	2360	c.2172G>A	c.(2170-2172)ctG>ctA	p.L724L	FHDC1_ENST00000260008.3_Silent_p.L724L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	724									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCAGCAGCCTGACACCCATGG	0.637																																						uc003inf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(2170-2172)CTG>CTA		FH2 domain containing 1							26.0	30.0	28.0					4																	153896615		2203	4300	6503	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153896615G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2172G>A	4.37:g.153896615G>A							p.L724L	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			11	2247	+	all_hematologic(180;0.093)		724						Silent	SNP	ENST00000511601.1	37	c.2172G>A	CCDS34081.1																																																																																				0.637	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2		NM_033393		18	17	0	0	0	1	0	18	17		
GLRB	2743	broad.mit.edu	37	4	158074052	158074052	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:158074052G>A	ENST00000264428.4	+	9	1357	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	GLRB_ENST00000509282.1_Missense_Mutation_p.E363K|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	363					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GGTTGAAGCTGAAAAAGCCAG	0.448																																						uc003ipj.2		NaN																	0				skin(2)	2						c.(1087-1089)GAA>AAA		glycine receptor, beta isoform A precursor	Glycine(DB00145)						112.0	109.0	110.0					4																	158074052		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158074052G>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1087G>A	4.37:g.158074052G>A	ENSP00000264428:p.Glu363Lys						p.E363K	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	9	1289	+	all_hematologic(180;0.24)	Renal(120;0.0458)	363			Cytoplasmic (Probable).		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.1087G>A	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245977	0.80024	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.83075	-1.68;-1.68	5.62	5.62	0.85841	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.683527	0.14720	N	0.302405	T	0.71962	0.3402	N	0.17248	0.465	0.80722	D	1	B	0.21071	0.051	B	0.23150	0.044	T	0.65573	-0.6135	10	0.02654	T	1	.	19.6528	0.95823	0.0:0.0:1.0:0.0	.	363	P48167	GLRB_HUMAN	K	363	ENSP00000264428:E363K;ENSP00000427186:E363K	ENSP00000264428:E363K	E	+	1	0	GLRB	158293502	1.000000	0.71417	0.981000	0.43875	0.939000	0.58152	7.956000	0.87863	2.646000	0.89796	0.655000	0.94253	GAA		0.448	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1		NM_000824		27	54	0	0	0	1	0	27	54		
GRIA2	2891	broad.mit.edu	37	4	158255240	158255240	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:158255240G>C	ENST00000264426.9	+	9	1513	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	GRIA2_ENST00000507898.1_Missense_Mutation_p.E365Q|GRIA2_ENST00000296526.7_Missense_Mutation_p.E412Q|GRIA2_ENST00000393815.2_Missense_Mutation_p.E365Q|GRIA2_ENST00000449365.1_Missense_Mutation_p.E365Q	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	412					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTCTGGGCTTGAGAATAAGAC	0.403																																						uc003ipm.3		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(1234-1236)GAG>CAG		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						176.0	167.0	170.0					4																	158255240		2203	4299	6502	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158255240G>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1234G>C	4.37:g.158255240G>C	ENSP00000264426:p.Glu412Gln					GRIA2_uc011cit.1_Missense_Mutation_p.E365Q|GRIA2_uc003ipl.3_Missense_Mutation_p.E412Q|GRIA2_uc003ipk.3_Missense_Mutation_p.E365Q|GRIA2_uc010iqh.1_RNA	p.E412Q	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	9	1693	+	all_hematologic(180;0.24)	Renal(120;0.0458)	412			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1234G>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947690	0.53186	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.12465	2.68;2.68;2.74;2.74;2.68	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.47078	1.49	0.80722	D	1	P;B;D	0.63880	0.925;0.035;0.993	B;B;D	0.70227	0.424;0.041;0.968	T	0.00768	-1.1574	10	0.19590	T	0.45	.	19.7537	0.96281	0.0:0.0:1.0:0.0	.	412;412;365	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	Q	365;365;412;412;365	ENSP00000426845:E365Q;ENSP00000377403:E365Q;ENSP00000296526:E412Q;ENSP00000264426:E412Q;ENSP00000389837:E365Q	ENSP00000264426:E412Q	E	+	1	0	GRIA2	158474690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.736000	0.93811	0.591000	0.81541	GAG		0.403	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2				10	78	0	0	0	1	0	10	78		
FAM198B	51313	broad.mit.edu	37	4	159092464	159092464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:159092464G>A	ENST00000296530.8	-	2	685	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.R22W|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Missense_Mutation_p.R22W|FAM198B_ENST00000585682.1_Missense_Mutation_p.R22W|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	22						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TTACGCACCCGCGGGACGCAC	0.587																																						uc003ipp.3		NaN																	0					0						c.(64-66)CGG>TGG		hypothetical protein LOC51313 isoform 2							41.0	41.0	41.0					4																	159092464		2201	4299	6500	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159092464G>A		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.64C>T	4.37:g.159092464G>A	ENSP00000296530:p.Arg22Trp					uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R22W|FAM198B_uc003ipr.3_Missense_Mutation_p.R22W|FAM198B_uc003ips.2_Missense_Mutation_p.R22W|uc003ipt.1_RNA	p.R22W	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN			2	516	-			22			Cytoplasmic (Potential).		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.64C>T	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522342	0.27211	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.32023	1.48;1.47	5.31	-0.272	0.12919	.	0.462866	0.22223	N	0.062921	T	0.16214	0.0390	L	0.33485	1.01	0.09310	N	0.999999	P;B;B	0.41710	0.76;0.017;0.017	B;B;B	0.32533	0.147;0.011;0.007	T	0.13629	-1.0502	10	0.51188	T	0.08	0.2039	7.088	0.25267	0.0631:0.0873:0.3606:0.4891	.	22;22;22	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	W	22	ENSP00000296530:R22W;ENSP00000377396:R22W	ENSP00000296530:R22W	R	-	1	2	FAM198B	159311914	0.000000	0.05858	0.079000	0.20413	0.809000	0.45718	-0.894000	0.04123	0.038000	0.15604	0.655000	0.94253	CGG		0.587	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1		NM_001031700, NM_016613		26	50	0	0	0	1	0	26	50		
GLRA3	8001	broad.mit.edu	37	4	175649820	175649820	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:175649820C>G	ENST00000274093.3	-	4	799	c.297G>C	c.(295-297)caG>caC	p.Q99H	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.Q99H	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	99					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CATTCCATTTCTGACGAAGAA	0.378																																						uc003ity.1		NaN																	0				ovary(3)	3						c.(295-297)CAG>CAC		glycine receptor, alpha 3 isoform a	Glycine(DB00145)						68.0	76.0	73.0					4																	175649820		2203	4298	6501	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175649820C>G	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.297G>C	4.37:g.175649820C>G	ENSP00000274093:p.Gln99His					GLRA3_uc003itz.1_Missense_Mutation_p.Q99H	p.Q99H	NM_006529	NP_006520	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	4	800	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	99			Extracellular (Probable).		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.297G>C	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299100	0.60195	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.79653	-1.29;-1.29	4.86	2.21	0.28008	Neurotransmitter-gated ion-channel ligand-binding (3);	0.058198	0.64402	D	0.000001	D	0.88448	0.6439	M	0.83012	2.62	0.47276	D	0.999375	D;D	0.89917	1.0;0.999	D;D	0.76071	0.986;0.987	D	0.87388	0.2361	10	0.87932	D	0	.	10.3419	0.43884	0.0:0.7924:0.0:0.2076	.	99;99	O75311-2;O75311	.;GLRA3_HUMAN	H	99	ENSP00000274093:Q99H;ENSP00000345284:Q99H	ENSP00000274093:Q99H	Q	-	3	2	GLRA3	175886395	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	3.338000	0.52128	0.213000	0.20722	-0.252000	0.11476	CAG		0.378	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1				15	89	0	0	0	1	0	15	89		
WDR17	116966	broad.mit.edu	37	4	177098691	177098691	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:177098691G>C	ENST00000280190.4	+	30	3891	c.3735G>C	c.(3733-3735)aaG>aaC	p.K1245N	WDR17_ENST00000393643.2_Missense_Mutation_p.K1221N|WDR17_ENST00000507824.2_Missense_Mutation_p.K1220N|WDR17_ENST00000508596.1_Missense_Mutation_p.K1206N			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1245										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTTATTAAAGAGACTAAAAG	0.328																																						uc003iuj.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(3733-3735)AAG>AAC		WD repeat domain 17 isoform 1							75.0	84.0	81.0					4																	177098691		2203	4298	6501	SO:0001583	missense	116966							g.chr4:177098691G>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3735G>C	4.37:g.177098691G>C	ENSP00000280190:p.Lys1245Asn					WDR17_uc003iuk.2_Missense_Mutation_p.K1221N|WDR17_uc003ium.3_Missense_Mutation_p.K1206N|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.K456N	p.K1245N	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	30	3891	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1245					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3735G>C	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.23|12.23	1.875547|1.875547	0.33162|0.33162	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.48836	.|0.8;0.8;0.8	6.16|6.16	4.36|4.36	0.52297|0.52297	.|.	.|0.432700	.|0.25035	.|N	.|0.033656	T|T	0.37571|0.37571	0.1008|0.1008	L|L	0.51422|0.51422	1.61|1.61	0.19575|0.19575	N|N	0.999964|0.999964	.|B;B;B	.|0.29862	.|0.259;0.259;0.259	.|B;B;B	.|0.27500	.|0.08;0.08;0.08	T|T	0.39663|0.39663	-0.9603|-0.9603	5|10	.|0.62326	.|D	.|0.03	-10.8198|-10.8198	5.255|5.255	0.15542|0.15542	0.2492:0.0:0.6059:0.1449|0.2492:0.0:0.6059:0.1449	.|.	.|1221;1206;1245	.|E7EP77;E7EQX0;Q8IZU2	.|.;.;WDR17_HUMAN	Q|N	480|1206;1221;1245;1221	.|ENSP00000422763:K1206N;ENSP00000377258:K1221N;ENSP00000280190:K1245N	.|ENSP00000280190:K1245N	E|K	+|+	1|3	0|2	WDR17|WDR17	177335685|177335685	0.962000|0.962000	0.33011|0.33011	0.959000|0.959000	0.39883|0.39883	0.794000|0.794000	0.44872|0.44872	0.259000|0.259000	0.18405|0.18405	1.629000|1.629000	0.50426|0.50426	0.650000|0.650000	0.86243|0.86243	GAG|AAG		0.328	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2				16	92	0	0	0	1	0	16	92		
TRAPPC11	60684	broad.mit.edu	37	4	184605510	184605510	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:184605510G>A	ENST00000334690.6	+	14	1621	c.1419G>A	c.(1417-1419)ttG>ttA	p.L473L	TRAPPC11_ENST00000357207.4_Silent_p.L473L|TRAPPC11_ENST00000512476.1_Silent_p.L79L	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	473					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											CCAAAGCTTTGAAGTGAGTCC	0.303																																						uc003ivx.2		NaN																	0					0						c.(1417-1419)TTG>TTA		hypothetical protein LOC60684 isoform a							69.0	71.0	70.0					4																	184605510		2203	4300	6503	SO:0001819	synonymous_variant	60684							g.chr4:184605510G>A		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1419G>A	4.37:g.184605510G>A						C4orf41_uc003ivw.2_Silent_p.L473L|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Silent_p.L79L	p.L473L	NM_021942	NP_068761	Q7Z392	CD041_HUMAN		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)	14	1595	+		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	473					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.1419G>A	CCDS34112.1																																																																																				0.303	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2		NM_021942		23	42	0	0	0	1	0	23	42		
TLR3	7098	broad.mit.edu	37	4	187005024	187005024	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:187005024G>C	ENST00000296795.3	+	4	2288	c.2184G>C	c.(2182-2184)tgG>tgC	p.W728C	TLR3_ENST00000504367.1_Missense_Mutation_p.W451C	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	728					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGAGGGCTGGAGGATATCTT	0.358																																						uc003iyq.2		NaN																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(2182-2184)TGG>TGC		toll-like receptor 3 precursor							134.0	142.0	140.0					4																	187005024		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187005024G>C	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2184G>C	4.37:g.187005024G>C	ENSP00000296795:p.Trp728Cys					TLR3_uc011ckz.1_Missense_Mutation_p.W451C|TLR3_uc003iyr.2_Missense_Mutation_p.W451C	p.W728C	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	2285	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	728			Cytoplasmic (Potential).		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.2184G>C	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642017	0.67244	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.38722	1.18;1.12	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73392	-0.3997	10	0.87932	D	0	.	19.9381	0.97149	0.0:0.0:1.0:0.0	.	728	O15455	TLR3_HUMAN	C	728;728;451	ENSP00000296795:W728C;ENSP00000423684:W451C	ENSP00000296795:W728C	W	+	3	0	TLR3	187242018	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.869000	0.99810	2.709000	0.92574	0.557000	0.71058	TGG		0.358	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4				78	132	0	0	0	1	0	78	132		
ICE1	23379	broad.mit.edu	37	5	5462600	5462600	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:5462600G>A	ENST00000296564.7	+	13	3375	c.3153G>A	c.(3151-3153)ttG>ttA	p.L1051L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1051					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTGGAAATTGAAATCTACAA	0.463																																						uc003jdm.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3151-3153)TTG>TTA		hypothetical protein LOC23379							131.0	131.0	131.0					5																	5462600		1915	4125	6040	SO:0001819	synonymous_variant	23379							g.chr5:5462600G>A																												ENST00000296564.7:c.3153G>A	5.37:g.5462600G>A							p.L1051L	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	3375	+			1051					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.3153G>A	CCDS47187.1																																																																																				0.463	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1				40	140	0	0	0	1	0	40	140		
CDH10	1008	broad.mit.edu	37	5	24535867	24535867	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:24535867T>C	ENST00000264463.4	-	4	1098	c.591A>G	c.(589-591)agA>agG	p.R197R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	197	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTAAATGACTCTGGCGCTGT	0.443										HNSCC(23;0.051)																												uc003jgr.1		NaN																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(589-591)AGA>AGG		cadherin 10, type 2 preproprotein							139.0	126.0	130.0					5																	24535867		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535867T>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.591A>G	5.37:g.24535867T>C		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.R197R	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	923	-			197			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.591A>G	CCDS3892.1																																																																																				0.443	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2		NM_006727		9	86	0	0	0	1	0	9	86		
ADAMTS12	81792	broad.mit.edu	37	5	33662105	33662105	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:33662105G>C	ENST00000504830.1	-	6	1291	c.956C>G	c.(955-957)tCt>tGt	p.S319C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S319C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	319	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCAGAAGCTAGACAGTGTCTT	0.488										HNSCC(64;0.19)																												uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(955-957)TCT>TGT		ADAM metallopeptidase with thrombospondin type 1							176.0	146.0	156.0					5																	33662105		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33662105G>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.956C>G	5.37:g.33662105G>C	ENSP00000422554:p.Ser319Cys	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.S319C	p.S319C	NM_030955	NP_112217	P58397	ATS12_HUMAN			6	1119	-			319			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.956C>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814371	0.90790	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.87256	-2.23;-2.23	5.83	5.83	0.93111	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.334023	0.35495	N	0.003176	D	0.91613	0.7350	L	0.55213	1.73	0.80722	D	1	D;D	0.67145	0.996;0.973	P;P	0.61592	0.891;0.886	D	0.91540	0.5249	10	0.66056	D	0.02	.	20.127	0.97984	0.0:0.0:1.0:0.0	.	319;319	P58397-3;P58397	.;ATS12_HUMAN	C	319	ENSP00000422554:S319C;ENSP00000344847:S319C	ENSP00000344847:S319C	S	-	2	0	ADAMTS12	33697862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.381000	0.66208	2.775000	0.95449	0.585000	0.79938	TCT		0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		31	69	0	0	0	1	0	31	69		
ADAMTS12	81792	broad.mit.edu	37	5	33662118	33662118	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:33662118C>T	ENST00000504830.1	-	6	1278	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E315K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	315	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTGTCTTTTCTGCATGGTGA	0.473										HNSCC(64;0.19)																												uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(943-945)GAA>AAA		ADAM metallopeptidase with thrombospondin type 1							156.0	132.0	140.0					5																	33662118		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33662118C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.943G>A	5.37:g.33662118C>T	ENSP00000422554:p.Glu315Lys	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.E315K	p.E315K	NM_030955	NP_112217	P58397	ATS12_HUMAN			6	1106	-			315			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.943G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248768	0.95305	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.63255	-0.03;-0.03	5.83	5.83	0.93111	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.046295	0.85682	D	0.000000	T	0.61426	0.2346	L	0.28192	0.835	0.80722	D	1	P;P	0.49559	0.925;0.741	P;P	0.48873	0.54;0.593	T	0.63161	-0.6699	10	0.54805	T	0.06	.	20.127	0.97984	0.0:1.0:0.0:0.0	.	315;315	P58397-3;P58397	.;ATS12_HUMAN	K	315	ENSP00000422554:E315K;ENSP00000344847:E315K	ENSP00000344847:E315K	E	-	1	0	ADAMTS12	33697875	1.000000	0.71417	0.990000	0.47175	0.688000	0.40055	7.750000	0.85110	2.775000	0.95449	0.585000	0.79938	GAA		0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		23	75	0	0	0	1	0	23	75		
TTC23L	153657	broad.mit.edu	37	5	34867123	34867123	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:34867123G>A	ENST00000505624.1	+	7	892	c.789G>A	c.(787-789)caG>caA	p.Q263Q	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	263								p.Q263Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AAGCTGCTCAGATAGAGCAGC	0.547																																						uc003jiu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(787-789)CAG>CAA		tetratricopeptide repeat domain 23-like							43.0	46.0	45.0					5																	34867123		1980	4159	6139	SO:0001819	synonymous_variant	153657						binding	g.chr5:34867123G>A		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.789G>A	5.37:g.34867123G>A						TTC23L_uc003jiv.2_Silent_p.Q70Q|TTC23L_uc010iut.1_Silent_p.Q70Q	p.Q263Q	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			7	892	+			263			Potential.		Q6RGS4|Q8N7R3|Q96LJ2	Silent	SNP	ENST00000505624.1	37	c.789G>A	CCDS54840.1																																																																																				0.547	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1		NM_144725		5	18	0	0	0	1	0	5	18		
LMBRD2	92255	broad.mit.edu	37	5	36141289	36141289	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:36141289G>A	ENST00000296603.4	-	4	750	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	96						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCATGGCTTGAAACAAGGAT	0.333																																						uc003jkb.1		NaN																	0					0						c.(286-288)TTC>TTT		LMBR1 domain containing 2							80.0	75.0	76.0					5																	36141289		2203	4300	6503	SO:0001819	synonymous_variant	92255					integral to membrane		g.chr5:36141289G>A		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.288C>T	5.37:g.36141289G>A							p.F96F	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	703	-	all_lung(31;0.000146)		96			Extracellular (Potential).		B3KRB6|Q9NTC7	Silent	SNP	ENST00000296603.4	37	c.288C>T	CCDS34145.1																																																																																				0.333	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1		NM_001007527		11	65	0	0	0	1	0	11	65		
LIFR	3977	broad.mit.edu	37	5	38481806	38481806	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:38481806G>A	ENST00000263409.4	-	20	3347	c.3185C>T	c.(3184-3186)tCc>tTc	p.S1062F	LIFR_ENST00000453190.2_Missense_Mutation_p.S1062F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1062					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GGAATTAATGGAGCATGGACT	0.403			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NaN		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(3184-3186)TCC>TTC		leukemia inhibitory factor receptor precursor							143.0	139.0	140.0					5																	38481806		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38481806G>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.3185C>T	5.37:g.38481806G>A	ENSP00000263409:p.Ser1062Phe					LIFR_uc003jli.2_Missense_Mutation_p.S1062F	p.S1062F	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			20	3517	-	all_lung(31;0.00021)		1062			Cytoplasmic (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.3185C>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354283	0.82243	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.77098	-1.07;-1.07	5.94	5.94	0.96194	.	0.145914	0.64402	D	0.000006	D	0.87684	0.6239	M	0.62723	1.935	0.58432	D	0.999992	D	0.76494	0.999	D	0.85130	0.997	D	0.87563	0.2473	10	0.87932	D	0	-16.6059	20.3552	0.98837	0.0:0.0:1.0:0.0	.	1062	P42702	LIFR_HUMAN	F	1062	ENSP00000263409:S1062F;ENSP00000398368:S1062F	ENSP00000263409:S1062F	S	-	2	0	LIFR	38517563	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.473000	0.73572	2.812000	0.96745	0.557000	0.71058	TCC		0.403	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1		NM_002310		20	203	0	0	0	1	0	20	203		
CCNB1	891	broad.mit.edu	37	5	68473423	68473423	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:68473423G>C	ENST00000256442.5	+	9	1520	c.1267G>C	c.(1267-1269)Gtt>Ctt	p.V423L	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	423					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTGCACTAGTTCAAGATTT	0.393																																						uc003jvm.2		NaN																	0					0						c.(1267-1269)GTT>CTT		cyclin B1							147.0	149.0	149.0					5																	68473423		2203	4300	6503	SO:0001583	missense	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68473423G>C	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.1267G>C	5.37:g.68473423G>C	ENSP00000256442:p.Val423Leu					CCNB1_uc010ixb.2_Missense_Mutation_p.V386L	p.V423L	NM_031966	NP_114172	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	9	1444	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	423					A8K066|Q5TZP9	Missense_Mutation	SNP	ENST00000256442.5	37	c.1267G>C	CCDS3997.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539908	0.45176	.	.	ENSG00000134057	ENST00000256442;ENST00000505500	T;T	0.17213	2.71;2.29	6.17	5.14	0.70334	Cyclin-like (1);	0.174216	0.49305	D	0.000148	T	0.14399	0.0348	L	0.39566	1.225	0.47547	D	0.999458	B;B	0.14012	0.009;0.0	B;B	0.15870	0.014;0.0	T	0.05099	-1.0906	10	0.22109	T	0.4	.	12.1203	0.53887	0.125:0.0:0.875:0.0	.	386;423	Q5TZP9;P14635	.;CCNB1_HUMAN	L	423;386	ENSP00000256442:V423L;ENSP00000424588:V386L	ENSP00000256442:V423L	V	+	1	0	CCNB1	68509179	0.995000	0.38212	1.000000	0.80357	0.937000	0.57800	2.214000	0.42853	2.941000	0.99782	0.655000	0.94253	GTT		0.393	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1		NM_031966		52	56	0	0	0	1	0	52	56		
MCCC2	64087	broad.mit.edu	37	5	70928012	70928012	+	Splice_Site	SNP	G	G	A	rs119103223		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:70928012G>A	ENST00000340941.6	+	8	932	c.803G>A	c.(802-804)aGa>aAa	p.R268K	MCCC2_ENST00000323375.8_Splice_Site_p.R230K|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Splice_Site_p.R268K	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	268	Carboxyltransferase.		R -> T (in MCC2D; asymptomatic form). {ECO:0000269|PubMed:11406611}.		biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTTCATTGCAGGTGAAACAGA	0.398																																						uc003kbs.3		NaN																	0				ovary(1)	1	GRCh37	CM034741|CS012212	MCCC2	M|S	rs119103223	c.(802-804)AGA>AAA		methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	Biotin(DB00121)						301.0	285.0	290.0					5																	70928012		2203	4300	6503	SO:0001630	splice_region_variant	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70928012G>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.803+1G>A	5.37:g.70928012G>A						MCCC2_uc010iyv.1_Missense_Mutation_p.R268K|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.R137K	p.R268K	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	8	941	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	268		R -> T (in MCC2 deficiency; asymptomatic form).	Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.803G>A	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688324	0.48097	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375;ENST00000509539	D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.37	5.16	5.16	0.70880	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.090690	0.85682	D	0.000000	D	0.95162	0.8432	L	0.28776	0.89	0.58432	D	0.999999	B;B;B	0.14438	0.008;0.01;0.005	B;B;B	0.23150	0.029;0.044;0.03	D	0.92035	0.5636	10	0.34782	T	0.22	-24.0969	17.7797	0.88520	0.0:0.0:1.0:0.0	.	268;137;268	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	K	268;268;230;43	ENSP00000343657:R268K;ENSP00000420994:R268K;ENSP00000327308:R230K;ENSP00000425474:R43K	ENSP00000327308:R230K	R	+	2	0	MCCC2	70963768	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.657000	0.67996	2.582000	0.87167	0.555000	0.69702	AGA		0.398	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			Missense_Mutation	33	47	0	0	0	1	0	33	47		
HMGCR	3156	broad.mit.edu	37	5	74643117	74643117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:74643117G>A	ENST00000287936.4	+	6	695	c.539G>A	c.(538-540)gGa>gAa	p.G180E	HMGCR_ENST00000343975.5_Missense_Mutation_p.G180E|HMGCR_ENST00000511206.1_Missense_Mutation_p.G180E	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	180	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTTGTGATTGGAGTTGGTACC	0.353																																						uc003kdp.2		NaN																	0				ovary(1)	1						c.(538-540)GGA>GAA		3-hydroxy-3-methylglutaryl-Coenzyme A reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						301.0	274.0	283.0					5																	74643117		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74643117G>A		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.539G>A	5.37:g.74643117G>A	ENSP00000287936:p.Gly180Glu					HMGCR_uc011cst.1_Missense_Mutation_p.G200E|HMGCR_uc003kdq.2_Missense_Mutation_p.G180E|HMGCR_uc010izn.1_Missense_Mutation_p.G20E	p.G180E	NM_000859	NP_000850	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	6	695	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	180			Helical; (Potential).		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.539G>A	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960608	0.92791	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	D;D;D	0.91996	-2.95;-2.95;-2.95	5.33	5.33	0.75918	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95887	0.8661	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.95584	0.8649	10	0.49607	T	0.09	-22.7867	18.6124	0.91290	0.0:0.0:1.0:0.0	.	180;180;180;180	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	E	180;111;180;180	ENSP00000426745:G180E;ENSP00000287936:G180E;ENSP00000340816:G180E	ENSP00000287936:G180E	G	+	2	0	HMGCR	74678873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.459000	0.83118	0.650000	0.86243	GGA		0.353	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2				79	84	0	0	0	1	0	79	84		
TBCA	6902	broad.mit.edu	37	5	76989151	76989151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:76989151C>A	ENST00000380377.4	-	3	289	c.186G>T	c.(184-186)atG>atT	p.M62I	TBCA_ENST00000306388.6_Missense_Mutation_p.M62I|TBCA_ENST00000517679.1_Missense_Mutation_p.M73I|TBCA_ENST00000520039.1_Nonstop_Mutation_p.*27L|TBCA_ENST00000522370.1_Missense_Mutation_p.M38I|TBCA_ENST00000518338.2_Missense_Mutation_p.M85I|TBCA_ENST00000520361.1_Intron|TBCA_ENST00000517881.1_5'UTR	NM_004607.2	NP_004598.1	O75347	TBCA_HUMAN	tubulin folding cofactor A	62					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		CTGGGATCATCATCCTGGATT	0.403																																						uc003kfh.1		NaN																	0				ovary(1)	1						c.(184-186)ATG>ATT		tubulin-specific chaperone a							74.0	71.0	72.0					5																	76989151		2203	4300	6503	SO:0001583	missense	6902				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding	g.chr5:76989151C>A	AF038952	CCDS4040.1, CCDS75263.1	5q14.1	2008-02-05	2006-11-21		ENSG00000171530	ENSG00000171530			11579	protein-coding gene	gene with protein product		610058	"""tubulin-specific chaperone a"""			9653160, 8706133	Standard	XM_005248586		Approved		uc003kfh.1	O75347	OTTHUMG00000102173	ENST00000380377.4:c.186G>T	5.37:g.76989151C>A	ENSP00000369736:p.Met62Ile					TBCA_uc003kfi.1_Missense_Mutation_p.M62I	p.M62I	NM_004607	NP_004598	O75347	TBCA_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)	3	290	-		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	62					B4DT30	Missense_Mutation	SNP	ENST00000380377.4	37	c.186G>T	CCDS4040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.89|18.89	3.719964|3.719964	0.68844|0.68844	.|.	.|.	ENSG00000171530|ENSG00000171530	ENST00000380377;ENST00000517679;ENST00000306388;ENST00000522370|ENST00000520039	.|.	.|.	.|.	5.46|5.46	4.59|4.59	0.56863|0.56863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69753|.	0.3146|.	M|M	0.82630|0.82630	2.6|2.6	0.24747|0.24747	N|N	0.993001|0.993001	B;P|.	0.35107|.	0.387;0.484|.	B;B|.	0.34093|.	0.137;0.175|.	T|.	0.64901|.	-0.6298|.	9|.	0.59425|.	D|.	0.04|.	-28.6593|-28.6593	16.6123|16.6123	0.84886|0.84886	0.0:0.8696:0.1304:0.0|0.0:0.8696:0.1304:0.0	.|.	62;62|.	B4DT30;O75347|.	.;TBCA_HUMAN|.	I|L	62;73;62;38|27	.|.	ENSP00000306362:M62I|.	M|X	-|-	3|2	0|2	TBCA|TBCA	77024907|77024907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.988000|5.988000	0.70579|0.70579	1.420000|1.420000	0.47138|0.47138	0.650000|0.650000	0.86243|0.86243	ATG|TGA		0.403	TBCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220021.3		NM_004607		9	26	1	0	1.58986e-06	1	1.6848e-06	9	26		
ERAP2	64167	broad.mit.edu	37	5	96215522	96215522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:96215522C>T	ENST00000437043.3	+	2	844	c.133C>T	c.(133-135)Cac>Tac	p.H45Y	ERAP2_ENST00000510309.1_Missense_Mutation_p.H45Y|ERAP2_ENST00000379904.4_Missense_Mutation_p.H45Y|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	45					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATCTAGTTATCACTTCACTGA	0.458																																						uc003kmq.2		NaN																	0					0						c.(133-135)CAC>TAC		endoplasmic reticulum aminopeptidase 2							90.0	86.0	88.0					5																	96215522		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96215522C>T	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.133C>T	5.37:g.96215522C>T	ENSP00000400376:p.His45Tyr					uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.H45Y|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.H39Y|ERAP2_uc003kmu.2_RNA	p.H45Y	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	2	843	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	45			Lumenal (Potential).		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.133C>T	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.561150	0.00910	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.04862	5.06;4.67;4.14;5.04;3.54	4.13	0.145	0.14829	.	2.281220	0.01871	N	0.037182	T	0.04497	0.0123	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.0	T	0.38112	-0.9676	10	0.41790	T	0.15	.	3.0685	0.06222	0.1899:0.4854:0.0:0.3247	.	45;45	Q6P179-3;Q6P179	.;ERAP2_HUMAN	Y	45	ENSP00000400376:H45Y;ENSP00000421175:H45Y;ENSP00000421849:H45Y;ENSP00000369235:H45Y;ENSP00000425758:H45Y	ENSP00000369235:H45Y	H	+	1	0	ERAP2	96241278	0.001000	0.12720	0.003000	0.11579	0.009000	0.06853	0.455000	0.21843	0.103000	0.17682	-0.336000	0.08194	CAC		0.458	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2		NM_022350		14	39	0	0	0	1	0	14	39		
HSPA4	3308	broad.mit.edu	37	5	132424172	132424172	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:132424172C>T	ENST00000304858.2	+	9	1351	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	354					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAGAAGATCAGCAAATTTT	0.358																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2		NaN																	0				lung(1)|breast(1)	2						c.(1060-1062)ATC>ATT		heat shock 70kDa protein 4							119.0	110.0	113.0					5																	132424172		2203	4300	6503	SO:0001819	synonymous_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132424172C>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1062C>T	5.37:g.132424172C>T							p.I354I	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1343	+			354					O95756|Q2TAL4|Q9BUK9	Silent	SNP	ENST00000304858.2	37	c.1062C>T	CCDS4166.1																																																																																				0.358	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1		NM_002154, NM_198431		24	36	0	0	0	1	0	24	36		
HSPA4	3308	broad.mit.edu	37	5	132424226	132424226	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:132424226C>G	ENST00000304858.2	+	9	1405	c.1116C>G	c.(1114-1116)gtC>gtG	p.V372V		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	372					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGAAGCTGTCACTCGAGGCT	0.368																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2		NaN																	0				lung(1)|breast(1)	2						c.(1114-1116)GTC>GTG		heat shock 70kDa protein 4							139.0	129.0	132.0					5																	132424226		2203	4300	6503	SO:0001819	synonymous_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132424226C>G	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1116C>G	5.37:g.132424226C>G							p.V372V	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1397	+			372					O95756|Q2TAL4|Q9BUK9	Silent	SNP	ENST00000304858.2	37	c.1116C>G	CCDS4166.1																																																																																				0.368	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1		NM_002154, NM_198431		33	44	0	0	0	1	0	33	44		
MYOT	9499	broad.mit.edu	37	5	137213275	137213275	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137213275C>G	ENST00000239926.4	+	4	972	c.598C>G	c.(598-600)Caa>Gaa	p.Q200E	MYOT_ENST00000509812.1_3'UTR|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.Q16E|MYOT_ENST00000515645.1_Missense_Mutation_p.Q85E	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	200					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTGTGTTTCAAGCTCAGGA	0.388																																						uc011cye.1		NaN																	0				large_intestine(1)	1						c.(598-600)CAA>GAA		myotilin isoform b							102.0	102.0	102.0					5																	137213275		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137213275C>G	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.598C>G	5.37:g.137213275C>G	ENSP00000239926:p.Gln200Glu					MYOT_uc003lbv.2_Missense_Mutation_p.Q200E|MYOT_uc011cyg.1_Missense_Mutation_p.Q16E|MYOT_uc011cyh.1_Missense_Mutation_p.Q85E	p.Q200E	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		4	615	+			200					A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.598C>G	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	3.798	-0.042193	0.07452	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.66995	-0.17;-0.11;-0.24	5.7	4.78	0.61160	.	0.201953	0.35525	N	0.003141	T	0.44008	0.1273	N	0.08118	0	0.33915	D	0.640115	B	0.02656	0.0	B	0.04013	0.001	T	0.48833	-0.9000	10	0.14656	T	0.56	.	13.5742	0.61864	0.0:0.6694:0.3306:0.0	.	200	Q9UBF9	MYOTI_HUMAN	E	200;16;85	ENSP00000239926:Q200E;ENSP00000391185:Q16E;ENSP00000426281:Q85E	ENSP00000239926:Q200E	Q	+	1	0	MYOT	137241174	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	3.074000	0.50065	2.687000	0.91594	0.591000	0.81541	CAA		0.388	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2		NM_006790		13	50	0	0	0	1	0	13	50		
NME5	8382	broad.mit.edu	37	5	137474391	137474391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137474391C>T	ENST00000265191.2	-	2	128	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	27					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.E27Q(1)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCTCCTCCTCTTTGTCAACA	0.378																																						uc003lce.2		NaN																	1	Substitution - Missense(1)		kidney(1)		0						c.(79-81)GAG>AAG		non-metastatic cells 5, protein expressed in							146.0	135.0	139.0					5																	137474391		2203	4300	6503	SO:0001583	missense	8382				anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding	g.chr5:137474391C>T	Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.79G>A	5.37:g.137474391C>T	ENSP00000265191:p.Glu27Lys					BRD8_uc003lcc.1_Intron	p.E27K	NM_003551	NP_003542	P56597	NDK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		2	157	-			27					B2R5G7	Missense_Mutation	SNP	ENST00000265191.2	37	c.79G>A	CCDS4197.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258926	0.39896	.	.	ENSG00000112981	ENST00000265191	T	0.54279	0.58	5.15	5.15	0.70609	.	0.106999	0.64402	D	0.000008	T	0.33177	0.0854	N	0.05592	-0.015	0.36722	D	0.881244	B	0.20368	0.044	B	0.23419	0.046	T	0.27706	-1.0066	10	0.06494	T	0.89	.	19.0002	0.92830	0.0:1.0:0.0:0.0	.	27	P56597	NDK5_HUMAN	K	27	ENSP00000265191:E27K	ENSP00000265191:E27K	E	-	1	0	NME5	137502290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.707000	0.54838	2.569000	0.86673	0.561000	0.74099	GAG		0.378	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1		NM_003551		18	30	0	0	0	1	0	18	30		
CDC25C	995	broad.mit.edu	37	5	137622209	137622209	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137622209G>A	ENST00000323760.6	-	12	1415	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	CDC25C_ENST00000415130.2_Silent_p.F306F|CDC25C_ENST00000357274.3_Silent_p.F336F|CDC25C_ENST00000513970.1_Silent_p.F379F|CDC25C_ENST00000348983.3_Silent_p.F306F|CDC25C_ENST00000356505.3_Silent_p.F349F|CDC25C_ENST00000514555.1_Silent_p.F349F	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	379	HIV-1 Vpr binding site.|Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCTGAGGAGAATTCACAGT	0.468																																						uc003lcp.1		NaN																	0				lung(3)	3						c.(1135-1137)TTC>TTT		cell division cycle 25C isoform a							79.0	81.0	81.0					5																	137622209		2203	4300	6503	SO:0001819	synonymous_variant	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137622209G>A	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1137C>T	5.37:g.137622209G>A						CDC25C_uc003lcq.1_Silent_p.F306F|CDC25C_uc003lcr.1_Silent_p.F379F|CDC25C_uc011cyp.1_Silent_p.F396F|CDC25C_uc003lcs.1_Silent_p.F457F	p.F379F	NM_001790	NP_001781	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		12	1408	-			379			HIV-1 Vpr binding site.|Rhodanese.		D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Silent	SNP	ENST00000323760.6	37	c.1137C>T	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	G	8.340	0.828402	0.16749	.	.	ENSG00000158402	ENST00000514017	.	.	.	5.06	4.19	0.49359	.	.	.	.	.	T	0.60248	0.2254	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58120	-0.7692	4	.	.	.	-14.5461	9.8058	0.40792	0.1661:0.0:0.8339:0.0	.	.	.	.	F	181	.	.	L	-	1	0	CDC25C	137650108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.709000	0.54853	1.489000	0.48450	-0.140000	0.14226	CTC		0.468	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1				16	48	0	0	0	1	0	16	48		
PCDHB13	56123	broad.mit.edu	37	5	140594200	140594200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:140594200G>A	ENST00000341948.4	+	1	692	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	169	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACAATATTGAGAACTATAT	0.478																																						uc003lja.1		NaN																	0				skin(2)|ovary(1)	3						c.(505-507)GAG>AAG		protocadherin beta 13 precursor							63.0	66.0	65.0					5																	140594200		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594200G>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.505G>A	5.37:g.140594200G>A	ENSP00000345491:p.Glu169Lys						p.E169K	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	692	+			169			Cadherin 2.|Extracellular (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.505G>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	g	14.50	2.553436	0.45487	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.51071	0.72	3.55	-1.35	0.09114	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.15176	0.0366	N	0.00368	-1.59	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.29640	-1.0005	9	0.54805	T	0.06	.	9.8293	0.40932	0.1361:0.4139:0.4501:0.0	.	169	Q9Y5F0	PCDBD_HUMAN	K	169	ENSP00000345491:E169K	ENSP00000345491:E169K	E	+	1	0	PCDHB13	140574384	0.000000	0.05858	0.000000	0.03702	0.424000	0.31475	-0.501000	0.06398	-0.693000	0.05121	0.313000	0.20887	GAG		0.478	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1		NM_018933		37	53	0	0	0	1	0	37	53		
SH3RF2	153769	broad.mit.edu	37	5	145442003	145442003	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:145442003G>T	ENST00000511217.1	+	9	1981	c.1929G>T	c.(1927-1929)gtG>gtT	p.V643V	SH3RF2_ENST00000359120.4_Silent_p.V643V|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	643	Interaction with PPP1CA.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAAAACCGTGAGATTTCAGA	0.522																																						uc003lnt.2		NaN																	0				ovary(1)|skin(1)	2						c.(1927-1929)GTG>GTT		SH3 domain containing ring finger 2							147.0	140.0	143.0					5																	145442003		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145442003G>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1929G>T	5.37:g.145442003G>T						SH3RF2_uc011dbl.1_Silent_p.V643V|SH3RF2_uc003lnu.2_Silent_p.V134V|SH3RF2_uc011dbn.1_Silent_p.V134V|SH3RF2_uc011dbo.1_Silent_p.V100V	p.V643V	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	2167	+			643	V->G: Significant loss of interaction with PPP1CA. Significant loss of interaction with PPP1CA; when associated with G-645.		Interaction with PPP1CA.		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1929G>T	CCDS4280.1																																																																																				0.522	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1		NM_152550		22	113	1	0	1.10513e-12	1	1.24661e-12	22	113		
AFAP1L1	134265	broad.mit.edu	37	5	148687015	148687015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:148687015G>C	ENST00000296721.4	+	7	684	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.E196Q|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	196	Poly-Glu.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGAAGAGGAGGAGGAAGG	0.587																																						uc003lqh.2		NaN																	0				breast(1)|pancreas(1)	2						c.(586-588)GAG>CAG		actin filament associated protein 1-like 1							79.0	76.0	77.0					5																	148687015		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148687015G>C	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.586G>C	5.37:g.148687015G>C	ENSP00000296721:p.Glu196Gln					AFAP1L1_uc003lqg.3_Missense_Mutation_p.E196Q|AFAP1L1_uc010jgy.2_Missense_Mutation_p.E196Q	p.E196Q	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	717	+			196			Poly-Glu.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.586G>C	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065176	0.93898	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.12774	2.65;2.65	4.83	4.83	0.62350	.	0.047154	0.85682	D	0.000000	T	0.40694	0.1127	M	0.77313	2.365	0.54753	D	0.999984	D;D;D	0.71674	0.997;0.976;0.998	D;P;D	0.80764	0.951;0.703;0.994	T	0.37776	-0.9691	10	0.87932	D	0	-34.2431	18.094	0.89482	0.0:0.0:1.0:0.0	.	196;196;196	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	Q	196	ENSP00000296721:E196Q;ENSP00000424427:E196Q	ENSP00000296721:E196Q	E	+	1	0	AFAP1L1	148667208	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.507000	0.84556	0.561000	0.74099	GAG		0.587	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1		NM_152406		15	86	0	0	0	1	0	15	86		
FAT2	2196	broad.mit.edu	37	5	150901233	150901233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:150901233C>T	ENST00000261800.5	-	18	10933	c.10921G>A	c.(10921-10923)Gag>Aag	p.E3641K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3641	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCAGCTCCTCGGGGGTGAGC	0.607																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(10921-10923)GAG>AAG		FAT tumor suppressor 2 precursor							33.0	29.0	30.0					5																	150901233		2203	4299	6502	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150901233C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10921G>A	5.37:g.150901233C>T	ENSP00000261800:p.Glu3641Lys					GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.E334K	p.E3641K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	10934	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3641			Cadherin 32.|Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10921G>A	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.496427|5.496427	0.96355|0.96355	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.49720|.	0.77|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Cadherin (1);|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.78622|0.78622	0.4312|0.4312	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	T|T	0.77667|0.77667	-0.2502|-0.2502	10|5	0.52906|.	T|.	0.07|.	.|.	19.8586|19.8586	0.96775|0.96775	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3641;832|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	K|Q	3641|499	ENSP00000261800:E3641K|.	ENSP00000261800:E3641K|.	E|R	-|-	1|2	0|0	FAT2|FAT2	150881426|150881426	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.971000|0.971000	0.66376|0.66376	7.713000|7.713000	0.84693|0.84693	2.701000|2.701000	0.92244|0.92244	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.607	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		8	35	0	0	0	1	0	8	35		
GEMIN5	25929	broad.mit.edu	37	5	154272068	154272068	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:154272068C>T	ENST00000285873.7	-	25	3714	c.3639G>A	c.(3637-3639)ctG>ctA	p.L1213L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1213					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGTTGGCTCAGCACTGCCA	0.587																																						uc003lvx.3		NaN																	0				skin(2)|ovary(1)	3						c.(3637-3639)CTG>CTA		gemin 5							61.0	55.0	57.0					5																	154272068		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154272068C>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3639G>A	5.37:g.154272068C>T						GEMIN5_uc011ddk.1_Silent_p.L1212L	p.L1213L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		25	3722	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1213					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.3639G>A	CCDS4330.1																																																																																				0.587	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1				9	40	0	0	0	1	0	9	40		
TIMD4	91937	broad.mit.edu	37	5	156375436	156375436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:156375436G>A	ENST00000274532.2	-	5	891	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	TIMD4_ENST00000407087.3_Intron	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	279						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCCAGGCTGAGGAGAAGAC	0.328																																						uc003lwh.2		NaN																	0				ovary(2)	2						c.(835-837)CAG>TAG		T-cell immunoglobulin and mucin domain							64.0	55.0	58.0					5																	156375436		2203	4300	6503	SO:0001587	stop_gained	91937					integral to membrane		g.chr5:156375436G>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.835C>T	5.37:g.156375436G>A	ENSP00000274532:p.Gln279*					TIMD4_uc010jii.2_Intron	p.Q279*	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	892	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	279			Extracellular (Potential).		B5MCL9	Nonsense_Mutation	SNP	ENST00000274532.2	37	c.835C>T	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898188	0.52227	.	.	ENSG00000145850	ENST00000274532	.	.	.	3.55	0.667	0.17907	.	2.982380	0.01497	N	0.017337	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	8.9964	6.5817	0.22598	0.0:0.3787:0.4269:0.1945	.	.	.	.	X	279	.	ENSP00000274532:Q279X	Q	-	1	0	TIMD4	156308014	0.001000	0.12720	0.001000	0.08648	0.034000	0.12701	0.571000	0.23669	0.117000	0.18138	0.561000	0.74099	CAG		0.328	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1		NM_138379		8	11	0	0	0	1	0	8	11		
DOCK2	1794	broad.mit.edu	37	5	169469046	169469046	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:169469046C>T	ENST00000256935.8	+	38	3866	c.3786C>T	c.(3784-3786)gtC>gtT	p.V1262V	DOCK2_ENST00000520908.1_Silent_p.V754V|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.V323V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1262	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCACAGGTCATGCAGACAG	0.542																																						uc003maf.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(3784-3786)GTC>GTT		dedicator of cytokinesis 2							72.0	60.0	64.0					5																	169469046		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169469046C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3786C>T	5.37:g.169469046C>T						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.V754V	p.V1262V	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		38	3866	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1262			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.3786C>T	CCDS4371.1																																																																																				0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946		9	8	0	0	0	1	0	9	8		
CLTB	1212	broad.mit.edu	37	5	175843355	175843355	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:175843355C>T	ENST00000310418.4	-	1	215	c.10G>A	c.(10-12)Gac>Aac	p.D4N	CLTB_ENST00000345807.2_Missense_Mutation_p.D4N	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	4					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		AAGCCAAAGTCATCAGCCATT	0.741																																						uc003meh.2		NaN																	0					0						c.(10-12)GAC>AAC		clathrin, light polypeptide isoform b							14.0	20.0	18.0					5																	175843355		2106	4185	6291	SO:0001583	missense	1212				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity	g.chr5:175843355C>T	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.10G>A	5.37:g.175843355C>T	ENSP00000309415:p.Asp4Asn					CLTB_uc003mei.2_Missense_Mutation_p.D4N|CLTB_uc011dfn.1_RNA	p.D4N	NM_007097	NP_009028	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	2	185	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	4					Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	c.10G>A	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569346	0.65765	.	.	ENSG00000175416	ENST00000310418;ENST00000345807;ENST00000502877	.	.	.	4.1	4.1	0.47936	.	0.135242	0.46442	D	0.000299	T	0.61324	0.2338	L	0.57536	1.79	0.45662	D	0.998588	B;B	0.30542	0.241;0.284	B;B	0.36134	0.139;0.218	T	0.59516	-0.7440	9	0.22109	T	0.4	.	16.522	0.84319	0.0:1.0:0.0:0.0	.	4;4	P09497-2;P09497	.;CLCB_HUMAN	N	4	.	ENSP00000309415:D4N	D	-	1	0	CLTB	175775961	1.000000	0.71417	0.495000	0.27527	0.280000	0.26924	4.636000	0.61339	2.102000	0.63906	0.462000	0.41574	GAC		0.741	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1				6	15	0	0	0	1	0	6	15		
IRF4	3662	broad.mit.edu	37	6	401636	401636	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:401636G>C	ENST00000380956.4	+	7	1084	c.958G>C	c.(958-960)Gcc>Ccc	p.A320P		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	320					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCTCTGGATGGCCCCCGACGG	0.612			T	IGH@	MM																																	uc003msz.3		NaN		Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM 		0				ovary(1)	1						c.(958-960)GCC>CCC		interferon regulatory factor 4							47.0	46.0	46.0					6																	401636		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:401636G>C	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.958G>C	6.37:g.401636G>C	ENSP00000370343:p.Ala320Pro					IRF4_uc010jne.1_Missense_Mutation_p.A320P|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.A319P|IRF4_uc003mtc.1_Missense_Mutation_p.A150P	p.A320P	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	7	1071	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	320					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.958G>C	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100665	0.76983	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.94417	-3.42	5.76	5.76	0.90799	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.279795	0.40554	N	0.001067	D	0.95642	0.8583	M	0.69823	2.125	0.54753	D	0.999987	P;P;D;P	0.56035	0.956;0.956;0.974;0.953	P;D;P;P	0.65573	0.908;0.936;0.888;0.811	D	0.94009	0.7282	10	0.30078	T	0.28	-23.1442	14.1707	0.65508	0.0711:0.0:0.9289:0.0	.	320;350;319;320	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	P	320;349	ENSP00000370343:A320P	ENSP00000370343:A320P	A	+	1	0	IRF4	346636	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.774000	0.55341	2.706000	0.92434	0.655000	0.94253	GCC		0.612	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1				7	19	0	0	0	1	0	7	19		
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:1313343C>T	ENST00000296839.2	+	1	669	c.404C>T	c.(403-405)tCg>tTg	p.S135L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S135L(1)		lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.687																																						uc003mtl.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(403-405)TCG>TTG		forkhead box Q1							26.0	29.0	28.0					6																	1313343		2157	4217	6374	SO:0001583	missense	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313343C>T	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.404C>T	6.37:g.1313343C>T	ENSP00000296839:p.Ser135Leu						p.S135L	NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	669	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	135			Fork-head.		Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	c.404C>T	CCDS4471.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594792	0.86953	.	.	ENSG00000164379	ENST00000296839	D	0.96619	-4.07	3.35	3.35	0.38373	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	U	0.000003	D	0.97801	0.9278	M	0.86740	2.835	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.98512	1.0619	10	0.87932	D	0	.	13.4722	0.61287	0.0:1.0:0.0:0.0	.	135	Q9C009	FOXQ1_HUMAN	L	135	ENSP00000296839:S135L	ENSP00000296839:S135L	S	+	2	0	FOXQ1	1258343	0.998000	0.40836	0.696000	0.30242	0.775000	0.43874	5.373000	0.66162	1.737000	0.51674	0.184000	0.17185	TCG		0.687	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1		NM_033260		10	20	0	0	0	1	0	10	20		
NRN1	51299	broad.mit.edu	37	6	5999356	5999356	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:5999356C>T	ENST00000244766.2	-	3	499	c.282G>A	c.(280-282)ctG>ctA	p.L94L	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	94					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		ATTCTTTTCTCAGTTTATCCC	0.562																																						uc003mwu.2		NaN																	0					0						c.(280-282)CTG>CTA		neuritin precursor							109.0	97.0	101.0					6																	5999356		2203	4300	6503	SO:0001819	synonymous_variant	51299					anchored to membrane|plasma membrane		g.chr6:5999356C>T	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.282G>A	6.37:g.5999356C>T						NRN1_uc003mwt.2_Silent_p.L120L	p.L94L	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	3	933	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	94					B2RA93|Q7Z4Y1	Silent	SNP	ENST00000244766.2	37	c.282G>A	CCDS4495.1																																																																																				0.562	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1				6	43	0	0	0	1	0	6	43		
ATXN1	6310	broad.mit.edu	37	6	16327637	16327637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:16327637G>A	ENST00000244769.4	-	8	1841	c.905C>T	c.(904-906)cCt>cTt	p.P302L	ATXN1_ENST00000436367.1_Missense_Mutation_p.P302L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	302					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGCCTCCCGAGGGACAAAGTG	0.657																																						uc003nbt.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(904-906)CCT>CTT		ataxin 1							32.0	36.0	34.0					6																	16327637		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327637G>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.905C>T	6.37:g.16327637G>A	ENSP00000244769:p.Pro302Leu					ATXN1_uc010jpi.2_Missense_Mutation_p.P302L|ATXN1_uc010jpj.1_Intron	p.P302L	NM_000332	NP_000323	P54253	ATX1_HUMAN			8	1876	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	302					Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.905C>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367029	0.41902	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.34667	1.35;1.35	4.94	4.04	0.47022	.	0.465074	0.21622	N	0.071627	T	0.17789	0.0427	L	0.47716	1.5	0.19945	N	0.999948	B	0.32573	0.376	B	0.30401	0.115	T	0.09662	-1.0664	10	0.72032	D	0.01	-0.2907	14.9411	0.70994	0.0:0.144:0.856:0.0	.	302	P54253	ATX1_HUMAN	L	302	ENSP00000244769:P302L;ENSP00000416360:P302L	ENSP00000244769:P302L	P	-	2	0	ATXN1	16435616	0.895000	0.30542	0.005000	0.12908	0.815000	0.46073	4.766000	0.62279	1.019000	0.39547	0.462000	0.41574	CCT		0.657	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3		NM_000332		8	48	0	0	0	1	0	8	48		
NUP153	9972	broad.mit.edu	37	6	17626341	17626341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17626341G>A	ENST00000262077.2	-	19	3598	c.3599C>T	c.(3598-3600)tCa>tTa	p.S1200L	NUP153_ENST00000537253.1_Missense_Mutation_p.S1231L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1200					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGGTGTACTTGAACTAGAGGA	0.418																																						uc003ncd.1		NaN																	0				lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(3598-3600)TCA>TTA		nucleoporin 153kDa							52.0	52.0	52.0					6																	17626341		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17626341G>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3599C>T	6.37:g.17626341G>A	ENSP00000262077:p.Ser1200Leu					NUP153_uc011dje.1_Missense_Mutation_p.S1231L|NUP153_uc010jpl.1_Missense_Mutation_p.S1158L	p.S1200L	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		19	3799	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1200					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.3599C>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412409	0.42817	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.08282	3.13;3.11	5.6	4.73	0.59995	.	0.848240	0.09841	N	0.748860	T	0.05731	0.0150	L	0.60455	1.87	0.09310	N	0.999998	B;B;B	0.32753	0.383;0.265;0.265	B;B;B	0.37387	0.248;0.086;0.079	T	0.37056	-0.9722	10	0.33141	T	0.24	-5.0964	14.2548	0.66043	0.0715:0.0:0.9285:0.0	.	1231;1180;1200	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	L	1200;1180;1231	ENSP00000262077:S1200L;ENSP00000444029:S1231L	ENSP00000262077:S1200L	S	-	2	0	NUP153	17734320	0.495000	0.26051	0.932000	0.37286	0.448000	0.32197	3.989000	0.56958	1.361000	0.45981	0.563000	0.77884	TCA		0.418	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1				20	29	0	0	0	1	0	20	29		
KIF13A	63971	broad.mit.edu	37	6	17790135	17790135	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17790135C>G	ENST00000259711.6	-	26	3334	c.3229G>C	c.(3229-3231)Gat>Cat	p.D1077H	KIF13A_ENST00000378826.2_Missense_Mutation_p.D1077H|KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378816.5_Missense_Mutation_p.D1077H	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1077					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCATCCTCATCATCTCTCTGG	0.383																																						uc003ncg.3		NaN																	0				large_intestine(2)|ovary(2)	4						c.(3229-3231)GAT>CAT		kinesin family member 13A isoform a							90.0	87.0	88.0					6																	17790135		1946	4151	6097	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17790135C>G	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3229G>C	6.37:g.17790135C>G	ENSP00000259711:p.Asp1077His					KIF13A_uc003ncf.2_Intron|KIF13A_uc003nch.3_Missense_Mutation_p.D1077H|KIF13A_uc003nci.3_Intron	p.D1077H	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		26	3334	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1077					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.3229G>C	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.17|15.17	2.752675|2.752675	0.49362|0.49362	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000259711;ENST00000378826;ENST00000378816|ENST00000358380	T;T;T|.	0.71461|.	-0.57;-0.57;-0.57|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.143801|.	0.45867|.	D|.	0.000321|.	T|T	0.38746|0.38746	0.1052|0.1052	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;P|.	0.42941|.	0.384;0.794|.	B;P|.	0.49140|.	0.398;0.601|.	T|T	0.33879|0.33879	-0.9851|-0.9851	10|5	0.20519|.	T|.	0.43|.	.|.	18.9394|18.9394	0.92600|0.92600	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1077;1077|.	Q9H1H9-2;Q9H1H9|.	.;KI13A_HUMAN|.	H|I	1077|470	ENSP00000259711:D1077H;ENSP00000368103:D1077H;ENSP00000368093:D1077H|.	ENSP00000259711:D1077H|.	D|M	-|-	1|3	0|0	KIF13A|KIF13A	17898114|17898114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.515000|4.515000	0.60489|0.60489	2.561000|2.561000	0.86390|0.86390	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.383	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4				10	22	0	0	0	1	0	10	22		
KIF13A	63971	broad.mit.edu	37	6	17855761	17855761	+	Missense_Mutation	SNP	G	G	C	rs370495452		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17855761G>C	ENST00000259711.6	-	6	506	c.401C>G	c.(400-402)tCt>tGt	p.S134C	KIF13A_ENST00000378826.2_Missense_Mutation_p.S134C|KIF13A_ENST00000378814.5_Missense_Mutation_p.S134C|KIF13A_ENST00000378843.2_Missense_Mutation_p.S134C|KIF13A_ENST00000378816.5_Missense_Mutation_p.S134C	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	134	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGCTCCAAAGAGATCCTTTT	0.423																																						uc003ncg.3		NaN																	0				large_intestine(2)|ovary(2)	4						c.(400-402)TCT>TGT		kinesin family member 13A isoform a							53.0	53.0	53.0					6																	17855761		1823	4081	5904	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17855761G>C	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.401C>G	6.37:g.17855761G>C	ENSP00000259711:p.Ser134Cys					KIF13A_uc003ncf.2_Missense_Mutation_p.S134C|KIF13A_uc003nch.3_Missense_Mutation_p.S134C|KIF13A_uc003nci.3_Missense_Mutation_p.S134C	p.S134C	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		6	506	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	134			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.401C>G	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419514	0.83559	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	5.86	5.86	0.93980	Kinesin, motor domain (4);	0.172979	0.53938	D	0.000053	D	0.90463	0.7013	M	0.63428	1.95	0.41084	D	0.98554	P;P;B;B	0.49253	0.921;0.547;0.404;0.25	P;B;P;B	0.51918	0.598;0.298;0.684;0.298	D	0.90373	0.4382	10	0.59425	D	0.04	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	134;134;134;134	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	C	134	ENSP00000368091:S134C;ENSP00000259711:S134C;ENSP00000368103:S134C;ENSP00000368120:S134C;ENSP00000368093:S134C	ENSP00000259711:S134C	S	-	2	0	KIF13A	17963740	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	2.996000	0.49449	2.777000	0.95525	0.655000	0.94253	TCT		0.423	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4				14	43	0	0	0	1	0	14	43		
LRRC16A	55604	broad.mit.edu	37	6	25466165	25466165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:25466165G>A	ENST00000329474.6	+	9	1047	c.679G>A	c.(679-681)Gat>Aat	p.D227N	LRRC16A_ENST00000377969.3_Missense_Mutation_p.D66N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	227					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTCCTCTAAGGATCTAAAACT	0.363																																						uc011djw.1		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(679-681)GAT>AAT		leucine rich repeat containing 16A							159.0	150.0	153.0					6																	25466165		1854	4091	5945	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25466165G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.679G>A	6.37:g.25466165G>A	ENSP00000331983:p.Asp227Asn					LRRC16A_uc010jpx.2_Missense_Mutation_p.D227N|LRRC16A_uc010jpy.2_Missense_Mutation_p.D227N|LRRC16A_uc003nez.1_Missense_Mutation_p.D66N	p.D227N	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			9	1055	+			227					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.679G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450763	0.63290	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	T;T	0.51325	0.71;0.71	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.38649	1.16	0.54753	D	0.999988	D;D;D;B	0.67145	0.987;0.995;0.996;0.131	P;P;D;B	0.63703	0.827;0.886;0.917;0.033	T	0.17561	-1.0365	10	0.23891	T	0.37	.	18.4922	0.90852	0.0:0.0:1.0:0.0	.	227;227;227;66	Q5VZK9;B2RTQ5;Q5VZK9-2;Q5VZK9-4	LR16A_HUMAN;.;.;.	N	227;227;66	ENSP00000331983:D227N;ENSP00000367206:D66N	ENSP00000331983:D227N	D	+	1	0	LRRC16A	25574144	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	8.757000	0.91657	2.793000	0.96121	0.650000	0.86243	GAT		0.363	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2		NM_017640		17	91	0	0	0	1	0	17	91		
SLC17A1	6568	broad.mit.edu	37	6	25811931	25811931	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:25811931G>C	ENST00000244527.4	-	9	1080	c.965C>G	c.(964-966)tCa>tGa	p.S322*	SLC17A1_ENST00000427328.1_Nonsense_Mutation_p.S268*|SLC17A1_ENST00000476801.1_Nonsense_Mutation_p.S322*|SLC17A1_ENST00000468082.1_Nonsense_Mutation_p.S268*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	322					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.S322*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GAAGAAGTCTGATAACTGACC	0.448																																						uc003nfh.3		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(964-966)TCA>TGA		solute carrier family 17 (sodium phosphate),							103.0	93.0	96.0					6																	25811931		2203	4300	6503	SO:0001587	stop_gained	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25811931G>C		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.965C>G	6.37:g.25811931G>C	ENSP00000244527:p.Ser322*					SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.S320*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.S266*	p.S322*	NM_005074	NP_005065	Q14916	NPT1_HUMAN			9	1081	-			322					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Nonsense_Mutation	SNP	ENST00000244527.4	37	c.965C>G	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054243	0.55218	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	3.38	3.38	0.38709	.	1.211340	0.06268	N	0.695074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	10.5584	0.45131	0.0:0.0:1.0:0.0	.	.	.	.	X	322;268;322;268	.	ENSP00000244527:S322X	S	-	2	0	SLC17A1	25919910	0.981000	0.34729	0.010000	0.14722	0.350000	0.29205	3.678000	0.54627	2.191000	0.70037	0.650000	0.86243	TCA		0.448	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2				22	65	0	0	0	1	0	22	65		
BTN1A1	696	broad.mit.edu	37	6	26508758	26508758	+	Missense_Mutation	SNP	C	C	T	rs368401858		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:26508758C>T	ENST00000244513.6	+	7	1003	c.937C>T	c.(937-939)Cat>Tat	p.H313Y		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	313	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGACACAGCTCATCCCCACCT	0.463																																						uc003nif.3		NaN																	0				ovary(1)|skin(1)	2						c.(937-939)CAT>TAT		butyrophilin, subfamily 1, member A1 precursor							201.0	204.0	203.0					6																	26508758		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26508758C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.937C>T	6.37:g.26508758C>T	ENSP00000244513:p.His313Tyr						p.H313Y	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			7	957	+			313			B30.2/SPRY.|Cytoplasmic (Potential).		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.937C>T	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628647	0.67015	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.16897	2.31	5.33	5.33	0.75918	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000015	T	0.33818	0.0876	M	0.86268	2.805	0.39391	D	0.966427	D	0.54601	0.967	P	0.62014	0.897	T	0.19128	-1.0315	10	0.87932	D	0	.	12.5701	0.56332	0.0:0.8325:0.1675:0.0	.	313	Q13410	BT1A1_HUMAN	Y	313	ENSP00000244513:H313Y	ENSP00000244513:H313Y	H	+	1	0	BTN1A1	26616737	0.157000	0.22836	1.000000	0.80357	0.892000	0.51952	0.813000	0.27225	2.651000	0.90000	0.655000	0.94253	CAT		0.463	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1		NM_001732		98	191	0	0	0	1	0	98	191		
PGBD1	84547	broad.mit.edu	37	6	28264604	28264604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:28264604G>C	ENST00000405948.2	+	5	1074	c.654G>C	c.(652-654)aaG>aaC	p.K218N	PGBD1_ENST00000259883.3_Missense_Mutation_p.K218N	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	218						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K218K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CATTGGTGAAGACTGAGGAAG	0.463																																						uc003nky.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(652-654)AAG>AAC		piggyBac transposable element derived 1							94.0	91.0	92.0					6																	28264604		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28264604G>C	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.654G>C	6.37:g.28264604G>C	ENSP00000385213:p.Lys218Asn					PGBD1_uc003nkz.2_Missense_Mutation_p.K218N	p.K218N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			5	1024	+			218					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.654G>C	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260378	0.59431	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01527	4.8;4.8	3.79	2.92	0.33932	.	0.227261	0.22445	N	0.059969	T	0.00754	0.0025	L	0.29908	0.895	0.26605	N	0.972957	D	0.54047	0.964	P	0.44811	0.461	T	0.52888	-0.8515	10	0.87932	D	0	-19.5613	7.0621	0.25131	0.1233:0.0:0.8767:0.0	.	218	Q96JS3	PGBD1_HUMAN	N	218	ENSP00000385213:K218N;ENSP00000259883:K218N	ENSP00000259883:K218N	K	+	3	2	PGBD1	28372583	1.000000	0.71417	0.895000	0.35142	0.935000	0.57460	1.718000	0.38001	1.158000	0.42547	0.655000	0.94253	AAG		0.463	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2				13	79	0	0	0	1	0	13	79		
PPP1R10	5514	broad.mit.edu	37	6	30576867	30576867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:30576867C>T	ENST00000376511.2	-	4	733	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	PPP1R10_ENST00000484449.1_5'Flank	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	61	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ACCAATATTTCTGGTGAACGG	0.483																																						uc003nqn.1		NaN																	0				ovary(2)|lung(1)|kidney(1)	4						c.(181-183)GAA>AAA		protein phosphatase 1, regulatory subunit 10							105.0	104.0	104.0					6																	30576867		1511	2709	4220	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30576867C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.181G>A	6.37:g.30576867C>T	ENSP00000365694:p.Glu61Lys					PPP1R10_uc010jsc.1_5'UTR	p.E61K	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			4	733	-			61			Interaction with TOX4 (By similarity).		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.181G>A	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382199	0.61845	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.45668	0.89	6.16	6.16	0.99307	Transcription factor IIS, N-terminal (1);	0.091245	0.64402	D	0.000001	T	0.21347	0.0514	L	0.27053	0.805	0.52501	D	0.999959	B	0.32245	0.361	B	0.22386	0.039	T	0.05022	-1.0911	10	0.59425	D	0.04	-14.1622	19.6313	0.95704	0.0:1.0:0.0:0.0	.	61	Q96QC0	PP1RA_HUMAN	K	61	ENSP00000365694:E61K	ENSP00000365694:E61K	E	-	1	0	PPP1R10	30684846	1.000000	0.71417	0.532000	0.27989	0.831000	0.47069	6.743000	0.74848	2.937000	0.99478	0.650000	0.86243	GAA		0.483	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2		NM_002714		14	56	0	0	0	1	0	14	56		
DHX16	8449	broad.mit.edu	37	6	30627868	30627868	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:30627868C>T	ENST00000376442.3	-	10	1891	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Missense_Mutation_p.D85N	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	566	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		D -> G (in dbSNP:rs9262138). {ECO:0000269|PubMed:14574404}.		mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						ACAGGGGCGTCATCAAAGAAG	0.542																																						uc003nqz.2		NaN																	0				ovary(2)|kidney(2)	4						c.(1696-1698)GAC>AAC		DEAH (Asp-Glu-Ala-His) box polypeptide 16							134.0	130.0	132.0					6																	30627868		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30627868C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1696G>A	6.37:g.30627868C>T	ENSP00000365625:p.Asp566Asn					DHX16_uc003nqy.2_Missense_Mutation_p.D85N|DHX16_uc011dmo.1_Missense_Mutation_p.D506N	p.D566N	NM_003587	NP_003578	O60231	DHX16_HUMAN			10	1908	-			566			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1696G>A	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317401	0.60524	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.10573	2.86;2.86	4.9	4.9	0.64082	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.02848	0.0085	N	0.10760	0.04	0.80722	D	1	P;B;B	0.51791	0.948;0.02;0.074	P;B;B	0.44772	0.46;0.028;0.055	T	0.44757	-0.9307	10	0.07644	T	0.81	.	17.3695	0.87372	0.0:1.0:0.0:0.0	.	506;566;85	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	N	566;85	ENSP00000365625:D566N;ENSP00000365620:D85N	ENSP00000365620:D85N	D	-	1	0	DHX16	30735847	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.040000	0.49799	2.707000	0.92482	0.555000	0.69702	GAC		0.542	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2		NM_003587		20	69	0	0	0	1	0	20	69		
PRRC2A	7916	broad.mit.edu	37	6	31594883	31594883	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:31594883G>A	ENST00000376033.2	+	11	1432	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E400K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	400	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCGGCCTCCAGAGACAGAGCC	0.672																																						uc003nvb.3		NaN																	0					0						c.(1198-1200)GAG>AAG		HLA-B associated transcript-2							32.0	34.0	33.0					6																	31594883		2203	4300	6503	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31594883G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1198G>A	6.37:g.31594883G>A	ENSP00000365201:p.Glu400Lys					BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.E400K	p.E400K	NM_080686	NP_542417	P48634	PRC2A_HUMAN			11	1447	+			400			4 X 57 AA type A repeats.|2 X type B repeats.|2-1.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1198G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350684	0.41599	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01665	4.7;4.7	4.7	4.7	0.59300	.	0.000000	0.50627	D	0.000113	T	0.01254	0.0041	L	0.46157	1.445	0.37776	D	0.926841	B	0.23316	0.083	B	0.19946	0.027	T	0.49652	-0.8917	10	0.87932	D	0	-12.0589	15.0176	0.71597	0.0:0.0:1.0:0.0	.	400	P48634	PRC2A_HUMAN	K	400	ENSP00000365175:E400K;ENSP00000365201:E400K	ENSP00000365175:E400K	E	+	1	0	PRRC2A	31702862	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.152000	0.58111	2.607000	0.88179	0.655000	0.94253	GAG		0.672	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		NM_080686		11	44	0	0	0	1	0	11	44		
TNXB	7148	broad.mit.edu	37	6	32036422	32036422	+	Missense_Mutation	SNP	G	G	A	rs371681556		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32036422G>A	ENST00000375244.3	-	17	6166	c.5965C>T	c.(5965-5967)Cgc>Tgc	p.R1989C	TNXB_ENST00000375247.2_Missense_Mutation_p.R1989C			P22105	TENX_HUMAN	tenascin XB	2071	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCCCCAGGCGAGGCTTGATG	0.622																																						uc003nzl.2		NaN																	0					0						c.(5965-5967)CGC>TGC		tenascin XB isoform 1 precursor		G	CYS/ARG	0,3902		0,0,1951	45.0	50.0	48.0		5965	3.3	0.0	6		48	1,8265		0,1,4132	no	missense	TNXB	NM_019105.6	180	0,1,6083	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	1989/4243	32036422	1,12167	1951	4133	6084	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036422G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5965C>T	6.37:g.32036422G>A	ENSP00000364393:p.Arg1989Cys						p.R1989C	NM_019105	NP_061978	P22105	TENX_HUMAN			17	6167	-			2071			Fibronectin type-III 13.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5965C>T		.	.	.	.	.	.	.	.	.	.	G	15.71	2.912886	0.52439	0.0	1.21E-4	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56941	0.56;0.43	5.18	3.35	0.38373	.	1.803330	0.02629	N	0.104033	T	0.57961	0.2089	M	0.80746	2.51	0.09310	N	1	D	0.69078	0.997	P	0.55824	0.785	T	0.39396	-0.9616	10	0.59425	D	0.04	.	11.3073	0.49342	0.0:0.0:0.5202:0.4798	.	1989	P22105-3	.	C	1989	ENSP00000364393:R1989C;ENSP00000364396:R1989C	ENSP00000364393:R1989C	R	-	1	0	TNXB	32144400	0.026000	0.19158	0.000000	0.03702	0.013000	0.08279	2.302000	0.43637	0.548000	0.28955	-0.181000	0.13052	CGC		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		16	51	0	0	0	1	0	16	51		
ATF6B	1388	broad.mit.edu	37	6	32094926	32094926	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32094926G>A	ENST00000375203.3	-	4	328	c.296C>T	c.(295-297)tCc>tTc	p.S99F	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Missense_Mutation_p.S96F	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	99	Poly-Ser.				response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GGAGCTGAGGGAGGAGGAAGA	0.527																																						uc003nzn.2		NaN																	0					0						c.(295-297)TCC>TTC		activating transcription factor 6 beta isoform							55.0	50.0	52.0					6																	32094926		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32094926G>A		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.296C>T	6.37:g.32094926G>A	ENSP00000364349:p.Ser99Phe					ATF6B_uc003nzo.2_Missense_Mutation_p.S96F|ATF6B_uc011dpg.1_Missense_Mutation_p.S33F|ATF6B_uc011dph.1_Missense_Mutation_p.S99F	p.S99F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			4	329	-			99			Cytoplasmic (Potential).|Poly-Ser.		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.296C>T	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386602	0.42308	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.57107	0.42;1.15	4.02	4.02	0.46733	.	0.400623	0.24742	U	0.035962	T	0.59742	0.2216	L	0.57536	1.79	0.34367	D	0.691646	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.83275	0.994;0.996;0.991	T	0.65030	-0.6267	10	0.62326	D	0.03	-12.7404	13.6752	0.62449	0.0:0.0:1.0:0.0	.	99;96;99	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	F	99;96	ENSP00000364349:S99F;ENSP00000364347:S96F	ENSP00000364347:S96F	S	-	2	0	ATF6B	32202904	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	3.957000	0.56730	2.039000	0.60335	0.563000	0.77884	TCC		0.527	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2				6	17	0	0	0	1	0	6	17		
PBX2	5089	broad.mit.edu	37	6	32154464	32154464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32154464C>T	ENST00000375050.4	-	8	1387	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	AGER_ENST00000375069.3_5'Flank|AGER_ENST00000438221.2_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375055.2_5'Flank|AGER_ENST00000375076.4_5'Flank|AGER_ENST00000375067.3_5'Flank|AGER_ENST00000538695.1_5'Flank|AGER_ENST00000375070.3_5'Flank|AGER_ENST00000375065.5_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	373					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CGGAGTGATTCCACCTGCAGG	0.552																																						uc003oav.1		NaN																	0				ovary(1)	1						c.(1117-1119)GAA>AAA		pre-B-cell leukemia homeobox 2							43.0	44.0	44.0					6																	32154464		2203	4300	6503	SO:0001583	missense	5089						transcription factor binding	g.chr6:32154464C>T		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.1117G>A	6.37:g.32154464C>T	ENSP00000364190:p.Glu373Lys					AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank	p.E373K	NM_002586	NP_002577	P40425	PBX2_HUMAN			8	1388	-			373					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.1117G>A	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390593	0.42410	.	.	ENSG00000204304	ENST00000375050	D	0.86865	-2.18	4.81	4.81	0.61882	.	0.000000	0.52532	D	0.000061	T	0.66117	0.2757	N	0.22421	0.69	0.43588	D	0.99593	B	0.32051	0.354	B	0.31946	0.138	T	0.68401	-0.5418	10	0.07482	T	0.82	-25.4947	15.4196	0.75000	0.0:1.0:0.0:0.0	.	373	P40425	PBX2_HUMAN	K	373	ENSP00000364190:E373K	ENSP00000364190:E373K	E	-	1	0	PBX2	32262442	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	2.053000	0.41326	2.504000	0.84457	0.561000	0.74099	GAA		0.552	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4				15	38	0	0	0	1	0	15	38		
SYNGAP1	8831	broad.mit.edu	37	6	33411122	33411122	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:33411122C>T	ENST00000418600.2	+	15	2894	c.2793C>T	c.(2791-2793)ctC>ctT	p.L931L	SYNGAP1_ENST00000293748.5_Silent_p.L931L|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.L872L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	931					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AGAACCCTCTCTTCCACATGG	0.662																																						uc011dri.1		NaN																	0				ovary(4)	4						c.(2791-2793)CTC>CTT		synaptic Ras GTPase activating protein 1							140.0	140.0	140.0					6																	33411122		2203	4300	6503	SO:0001819	synonymous_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411122C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2793C>T	6.37:g.33411122C>T						SYNGAP1_uc010juy.2_Silent_p.L902L|SYNGAP1_uc010juz.2_Silent_p.L643L	p.L931L	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			15	2988	+			931					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	c.2793C>T	CCDS34434.2																																																																																				0.662	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4		XM_166407		37	210	0	0	0	1	0	37	210		
CMTR1	23070	broad.mit.edu	37	6	37443108	37443108	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:37443108G>C	ENST00000373451.4	+	19	2120	c.1956G>C	c.(1954-1956)caG>caC	p.Q652H		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	652					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GGAAGGCCCAGAGGAAGATCA	0.592																																						uc003ons.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(1954-1956)CAG>CAC		FtsJ methyltransferase domain containing 2							105.0	67.0	80.0					6																	37443108		2203	4300	6503	SO:0001583	missense	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37443108G>C	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1956G>C	6.37:g.37443108G>C	ENSP00000362550:p.Gln652His						p.Q652H	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			19	2209	+			652					A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	c.1956G>C	CCDS4835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.533313|4.533313	0.85812|0.85812	.|.	.|.	ENSG00000137200|ENSG00000137200	ENST00000373451;ENST00000373420|ENST00000457419	D|.	0.84442|.	-1.85|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68897|0.68897	0.3051|0.3051	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.68765|.	0.96|.	T|T	0.69950|0.69950	-0.5006|-0.5006	10|5	0.87932|.	D|.	0|.	-24.3354|-24.3354	13.1758|13.1758	0.59626|0.59626	0.0766:0.0:0.9234:0.0|0.0766:0.0:0.9234:0.0	.|.	652|.	Q8N1G2|.	MTR1_HUMAN|.	H|T	652;59|5	ENSP00000362550:Q652H|.	ENSP00000362519:Q59H|.	Q|R	+|+	3|2	2|0	FTSJD2|FTSJD2	37551086|37551086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.688000|4.688000	0.61715|0.61715	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.592	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1		NM_015050		6	24	0	0	0	1	0	6	24		
TAF8	129685	broad.mit.edu	37	6	42019184	42019184	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:42019184G>A	ENST00000372977.3	+	2	153	c.135G>A	c.(133-135)ctG>ctA	p.L45L	CCND3_ENST00000415497.2_5'Flank|CCND3_ENST00000511642.1_5'Flank|TAF8_ENST00000472818.1_Silent_p.L45L|TAF8_ENST00000465926.1_5'UTR|TAF8_ENST00000456846.2_Silent_p.L45L|CCND3_ENST00000372988.4_5'Flank|TAF8_ENST00000482926.1_3'UTR|TAF8_ENST00000482432.1_5'UTR|TAF8_ENST00000372982.4_Silent_p.L45L|CCND3_ENST00000510503.1_5'Flank|TAF8_ENST00000494547.1_Silent_p.L45L|TAF8_ENST00000372978.3_Silent_p.L45L|CCND3_ENST00000511686.1_5'Flank	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	45	Histone-fold.				cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			GCTCCTTGCTGACAGAGGCAG	0.532																																						uc003ors.2		NaN																	0				ovary(1)	1						c.(133-135)CTG>CTA		TBP-associated factor 8							86.0	91.0	90.0					6																	42019184		2121	4253	6374	SO:0001819	synonymous_variant	129685				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding	g.chr6:42019184G>A	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.135G>A	6.37:g.42019184G>A						CCND3_uc003orp.2_5'Flank|CCND3_uc011duk.1_5'Flank|CCND3_uc011dum.1_5'Flank|TAF8_uc003orr.2_Silent_p.L45L|TAF8_uc003ort.2_Silent_p.L45L|TAF8_uc003oru.1_Silent_p.L45L|TAF8_uc003orv.1_Silent_p.L45L|TAF8_uc011dun.1_5'UTR	p.L45L	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)		2	164	+	Colorectal(47;0.196)		45			Histone-fold.		Q5T0K1|Q8N4R9|Q96M52	Silent	SNP	ENST00000372977.3	37	c.135G>A	CCDS43462.1																																																																																				0.532	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1		NM_138572		24	99	0	0	0	1	0	24	99		
CDC5L	988	broad.mit.edu	37	6	44374146	44374146	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:44374146C>T	ENST00000371477.3	+	7	1144	c.845C>T	c.(844-846)aCt>aTt	p.T282I		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	282	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTCTTCAAACTAGTGGTGTT	0.318																																						uc003oxl.2		NaN																	0				lung(3)|ovary(1)|kidney(1)|skin(1)	6						c.(844-846)ACT>ATT		CDC5-like							100.0	106.0	104.0					6																	44374146		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44374146C>T	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.845C>T	6.37:g.44374146C>T	ENSP00000360532:p.Thr282Ile						p.T282I	NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		7	1104	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		282			Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.845C>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032378	0.35893	.	.	ENSG00000096401	ENST00000371477	T	0.42513	0.97	5.62	4.72	0.59763	.	0.096483	0.64402	D	0.000001	T	0.12774	0.0310	N	0.12182	0.205	0.58432	D	0.999996	B	0.11235	0.004	B	0.04013	0.001	T	0.05869	-1.0859	10	0.18276	T	0.48	-16.2912	14.9778	0.71289	0.0:0.8587:0.1413:0.0	.	282	Q99459	CDC5L_HUMAN	I	282	ENSP00000360532:T282I	ENSP00000360532:T282I	T	+	2	0	CDC5L	44482124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.671000	0.68095	2.646000	0.89796	0.557000	0.71058	ACT		0.318	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1				29	122	0	0	0	1	0	29	122		
TNFRSF21	27242	broad.mit.edu	37	6	47221041	47221041	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:47221041C>G	ENST00000296861.2	-	4	1853	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	487	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			AACATCGTTTCTCCGGTGCTG	0.617																																						uc003oyv.2		NaN																	0					0						c.(1459-1461)AGA>ACA		tumor necrosis factor receptor superfamily,							53.0	42.0	46.0					6																	47221041		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47221041C>G	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1460G>C	6.37:g.47221041C>G	ENSP00000296861:p.Arg487Thr						p.R487T	NM_014452	NP_055267	O75509	TNR21_HUMAN	Lung(136;0.189)		4	1893	-			487			Cytoplasmic (Potential).|Death.		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1460G>C	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383957	0.95967	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	D	0.88046	-2.33	6.16	6.16	0.99307	Death (3);DEATH-like (2);	0.087968	0.85682	D	0.000000	D	0.88012	0.6323	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.89318	0.3638	10	0.87932	D	0	.	20.4702	0.99162	0.0:1.0:0.0:0.0	.	487	O75509	TNR21_HUMAN	T	487;176	ENSP00000296861:R487T	ENSP00000296861:R487T	R	-	2	0	TNFRSF21	47329000	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.618000	0.83043	2.937000	0.99478	0.650000	0.86243	AGA		0.617	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1		NM_014452		4	18	0	0	0	1	0	4	18		
PTCHD4	442213	broad.mit.edu	37	6	47846150	47846150	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:47846150G>T	ENST00000339488.4	-	3	2463	c.2430C>A	c.(2428-2430)ttC>ttA	p.F810L		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	810						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TGGAAGGGGGGAAAAACGTTA	0.448																																						uc011dwm.1		NaN																	0				central_nervous_system(1)	1						c.(2377-2379)TTC>TTA		hypothetical protein LOC442213							102.0	102.0	102.0					6																	47846150		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846150G>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2430C>A	6.37:g.47846150G>T	ENSP00000341914:p.Phe810Leu					C6orf138_uc011dwn.1_Missense_Mutation_p.F557L	p.F793L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	2464	-			810					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2379C>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	5.741	0.321107	0.10845	.	.	ENSG00000244694	ENST00000339488	D	0.90676	-2.71	6.06	0.117	0.14652	.	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	N	0.02916	-0.46	0.80722	D	1	P	0.49185	0.92	P	0.52309	0.695	T	0.70059	-0.4976	10	0.02654	T	1	.	10.382	0.44117	0.3904:0.0:0.6096:0.0	.	810	Q6ZW05	CF138_HUMAN	L	810	ENSP00000341914:F810L	ENSP00000341914:F810L	F	-	3	2	C6orf138	47954109	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.664000	0.25068	0.144000	0.18951	0.650000	0.86243	TTC		0.448	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2		NM_001013732		19	74	1	0	3.99206e-14	1	4.52745e-14	19	74		
IL17A	3605	broad.mit.edu	37	6	52052468	52052468	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:52052468G>A	ENST00000340057.1	+	2	140	c.95G>A	c.(94-96)gGa>gAa	p.G32E		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	32					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CGAAATCCAGGATGCCCAAAT	0.493																																						uc003pak.1		NaN																	0					0						c.(94-96)GGA>GAA		interleukin 17A precursor							226.0	218.0	221.0					6																	52052468		2203	4300	6503	SO:0001583	missense	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52052468G>A	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.95G>A	6.37:g.52052468G>A	ENSP00000344192:p.Gly32Glu						p.G32E	NM_002190	NP_002181	Q16552	IL17_HUMAN			2	140	+	Lung NSC(77;0.116)		32					Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	c.95G>A	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103950	0.37145	.	.	ENSG00000112115	ENST00000340057	T	0.39997	1.05	5.71	-0.321	0.12717	.	3.276920	0.01448	N	0.015371	T	0.11495	0.0280	L	0.38531	1.155	0.09310	N	0.999999	B	0.18461	0.028	B	0.17433	0.018	T	0.08086	-1.0739	10	0.32370	T	0.25	-0.2688	1.305	0.02086	0.2089:0.1232:0.4137:0.2543	.	32	Q16552	IL17_HUMAN	E	32	ENSP00000344192:G32E	ENSP00000344192:G32E	G	+	2	0	IL17A	52160427	0.045000	0.20229	0.006000	0.13384	0.465000	0.32709	0.065000	0.14466	-0.386000	0.07821	-0.181000	0.13052	GGA		0.493	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1		NM_002190		95	146	0	0	0	1	0	95	146		
LRRC1	55227	broad.mit.edu	37	6	53761655	53761655	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:53761655G>A	ENST00000370888.1	+	6	809	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	178						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E178*(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AAGACTAGAAGAACTTGATTT	0.313																																						uc003pcd.1		NaN																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(1)	1						c.(532-534)GAA>AAA		leucine rich repeat containing 1							59.0	66.0	64.0					6																	53761655		2199	4299	6498	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53761655G>A	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.532G>A	6.37:g.53761655G>A	ENSP00000359925:p.Glu178Lys						p.E178K	NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	6	809	+	Lung NSC(77;0.0147)		178			LRR 8.		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.532G>A	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	32	5.164976	0.94727	.	.	ENSG00000137269	ENST00000370888	T	0.05855	3.38	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.02807	0.0084	N	0.26092	0.79	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.48681	-0.9014	10	0.28530	T	0.3	.	18.4155	0.90568	0.0:0.0:1.0:0.0	.	178	Q9BTT6	LRRC1_HUMAN	K	178	ENSP00000359925:E178K	ENSP00000359925:E178K	E	+	1	0	LRRC1	53869614	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.276000	0.78559	2.589000	0.87451	0.655000	0.94253	GAA		0.313	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2		NM_025168		14	44	0	0	0	1	0	14	44		
HCRTR2	3062	broad.mit.edu	37	6	55142257	55142257	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:55142257C>T	ENST00000370862.3	+	5	1178	c.842C>T	c.(841-843)cCa>cTa	p.P281L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	281					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAGGACAGCCAACGAAGTCC	0.517																																						uc003pcl.2		NaN																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(841-843)CCA>CTA		orexin receptor 2							73.0	77.0	75.0					6																	55142257		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55142257C>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.842C>T	6.37:g.55142257C>T	ENSP00000359899:p.Pro281Leu					HCRTR2_uc010jzv.2_RNA	p.P281L	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	1157	+	Lung NSC(77;0.107)|Renal(3;0.122)		281			Cytoplasmic (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.842C>T	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779761	0.31502	.	.	ENSG00000137252	ENST00000370862	T	0.63913	-0.07	5.84	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.420546	0.26935	N	0.021744	T	0.33498	0.0865	L	0.31526	0.94	0.40298	D	0.978571	B	0.12630	0.006	B	0.17433	0.018	T	0.08106	-1.0738	10	0.37606	T	0.19	.	14.4481	0.67367	0.4201:0.5799:0.0:0.0	.	281	O43614	OX2R_HUMAN	L	281	ENSP00000359899:P281L	ENSP00000359899:P281L	P	+	2	0	HCRTR2	55250216	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.537000	0.45702	0.464000	0.27142	-0.271000	0.10264	CCA		0.517	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1				9	37	0	0	0	1	0	9	37		
DST	667	broad.mit.edu	37	6	56458793	56458793	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:56458793G>A	ENST00000361203.3	-	44	11768	c.11761C>T	c.(11761-11763)Ctg>Ttg	p.L3921L	DST_ENST00000312431.6_Silent_p.L3921L|DST_ENST00000370754.5_Silent_p.L4101L|DST_ENST00000370788.2_Silent_p.L1835L|DST_ENST00000370769.4_Silent_p.L3923L|DST_ENST00000421834.2_Silent_p.L1835L|DST_ENST00000446842.2_Silent_p.L3597L|DST_ENST00000244364.6_Silent_p.L1509L			Q03001	DYST_HUMAN	dystonin	3921					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTCCTGCAGAGAGTGAGTT	0.413																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(6037-6039)CTG>TTG		dystonin isoform 2							81.0	73.0	75.0					6																	56458793		1902	4122	6024	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458793G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11761C>T	6.37:g.56458793G>A						DST_uc003pcz.3_Silent_p.L1835L|DST_uc011dxj.1_Silent_p.L1864L|DST_uc011dxk.1_Silent_p.L1875L|DST_uc003pcy.3_Silent_p.L1509L|DST_uc010kaa.1_RNA	p.L2013L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		42	6065	-	Lung NSC(77;0.103)		3921					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.6037C>T																																																																																					0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		9	51	0	0	0	1	0	9	51		
KHDRBS2	202559	broad.mit.edu	37	6	62390905	62390905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:62390905C>G	ENST00000281156.4	-	9	1291	c.1013G>C	c.(1012-1014)aGa>aCa	p.R338T	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTATCCCCCTCTGGCTGACCT	0.493																																						uc003peg.2		NaN																	0				skin(7)|ovary(3)|liver(1)	11						c.(1012-1014)AGA>ACA		KH domain-containing, RNA-binding, signal							195.0	135.0	155.0					6																	62390905		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62390905C>G	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.1013G>C	6.37:g.62390905C>G	ENSP00000281156:p.Arg338Thr						p.R338T	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	9	1260	-			338					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.1013G>C	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407718	0.42715	.	.	ENSG00000112232	ENST00000281156	T	0.49139	0.79	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	L	0.29908	0.895	0.58432	D	0.999999	P	0.44627	0.839	B	0.41813	0.367	T	0.14337	-1.0476	10	0.49607	T	0.09	.	18.9222	0.92529	0.0:1.0:0.0:0.0	.	338	Q5VWX1	KHDR2_HUMAN	T	338	ENSP00000281156:R338T	ENSP00000281156:R338T	R	-	2	0	KHDRBS2	62448864	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.395000	0.73228	2.541000	0.85698	0.650000	0.86243	AGA		0.493	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2		NM_152688		6	35	0	0	0	1	0	6	35		
CD109	135228	broad.mit.edu	37	6	74490221	74490221	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:74490221G>C	ENST00000287097.5	+	16	2014	c.1902G>C	c.(1900-1902)caG>caC	p.Q634H	CD109_ENST00000422508.2_Splice_Site_p.Q557H|CD109_ENST00000437994.2_Splice_Site_p.Q634H			Q6YHK3	CD109_HUMAN	CD109 molecule	634	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTCTTTCAGGTATGTTTTG	0.294																																						uc003php.2		NaN																	0				large_intestine(2)|ovary(2)	4						c.(1900-1902)CAG>CAC		CD109 antigen isoform 1 precursor							173.0	174.0	173.0					6																	74490221		2203	4298	6501	SO:0001630	splice_region_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74490221G>C	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1902+1G>C	6.37:g.74490221G>C						CD109_uc010kaz.2_Missense_Mutation_p.Q634H|CD109_uc003phq.2_Missense_Mutation_p.Q634H|CD109_uc010kba.2_Missense_Mutation_p.Q557H	p.Q634H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			16	2327	+			634			Bait region (approximate) (By similarity).		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.1902G>C	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108594	0.37242	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.24151	1.87;2.08;1.87	4.97	4.1	0.47936	.	0.789302	0.10525	U	0.664532	T	0.08891	0.0220	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.21905	0.062;0.023;0.01;0.022	B;B;B;B	0.21546	0.035;0.025;0.012;0.014	T	0.06058	-1.0848	10	0.72032	D	0.01	.	10.7075	0.45962	0.088:0.0:0.912:0.0	.	557;634;634;634	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	H	634;557;634	ENSP00000388062:Q634H;ENSP00000404475:Q557H;ENSP00000287097:Q634H	ENSP00000287097:Q634H	Q	+	3	2	CD109	74546942	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.822000	0.55708	1.316000	0.45131	0.650000	0.86243	CAG		0.294	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3		NM_133493	Missense_Mutation	14	102	0	0	0	1	0	14	102		
SENP6	26054	broad.mit.edu	37	6	76412689	76412689	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:76412689G>C	ENST00000447266.2	+	19	3095	c.2617G>C	c.(2617-2619)Gaa>Caa	p.E873Q	SENP6_ENST00000370014.3_Missense_Mutation_p.E873Q|SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Missense_Mutation_p.E866Q	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	873	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TGAAAATGAAGAATTCAATAA	0.368																																						uc003pid.3		NaN																	0				breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6						c.(2617-2619)GAA>CAA		SUMO1/sentrin specific peptidase 6 isoform 1							146.0	147.0	147.0					6																	76412689		1833	4090	5923	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76412689G>C		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2617G>C	6.37:g.76412689G>C	ENSP00000402527:p.Glu873Gln					SENP6_uc003pie.3_Missense_Mutation_p.E866Q|SENP6_uc010kbf.2_Intron	p.E873Q	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN			19	3236	+		all_hematologic(105;0.189)	873			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.2617G>C	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409432	0.62399	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.14022	2.55;2.54;2.55	5.12	5.12	0.69794	.	0.267459	0.32244	N	0.006364	T	0.13628	0.0330	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.993;0.988	P;P	0.57776	0.827;0.676	T	0.05037	-1.0910	10	0.29301	T	0.29	-4.8788	17.6812	0.88243	0.0:0.0:1.0:0.0	.	866;873	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	Q	866;873;873	ENSP00000359027:E866Q;ENSP00000359031:E873Q;ENSP00000402527:E873Q	ENSP00000359027:E866Q	E	+	1	0	SENP6	76469409	1.000000	0.71417	0.993000	0.49108	0.669000	0.39330	6.081000	0.71309	2.784000	0.95788	0.585000	0.79938	GAA		0.368	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2		NM_015571		46	153	0	0	0	1	0	46	153		
DOPEY1	23033	broad.mit.edu	37	6	83839159	83839159	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:83839159C>G	ENST00000349129.2	+	16	2533	c.2273C>G	c.(2272-2274)tCa>tGa	p.S758*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S749*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S739*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	758					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTAGAGTGCTCAAGTTTCCCA	0.393																																						uc003pjs.1		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2272-2274)TCA>TGA		dopey family member 1							68.0	66.0	67.0					6																	83839159		2203	4300	6503	SO:0001587	stop_gained	23033				protein transport			g.chr6:83839159C>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2273C>G	6.37:g.83839159C>G	ENSP00000195654:p.Ser758*					DOPEY1_uc011dyy.1_Nonsense_Mutation_p.S749*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.S749*	p.S758*	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	16	2533	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	758					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	ENST00000349129.2	37	c.2273C>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	42	9.702595	0.99242	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.7974	0.96491	0.0:1.0:0.0:0.0	.	.	.	.	X	758;739;739	.	ENSP00000237163:S739X	S	+	2	0	DOPEY1	83895878	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.294000	0.78760	2.673000	0.90976	0.650000	0.86243	TCA		0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		NM_015018		35	57	0	0	0	1	0	35	57		
UBE2J1	51465	broad.mit.edu	37	6	90052151	90052151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:90052151G>T	ENST00000435041.2	-	3	407	c.129C>A	c.(127-129)ttC>ttA	p.F43L		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	43					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CTCTAACCGTGAAGTGCCATT	0.378																																						uc010kcb.2		NaN																	0					0						c.(127-129)TTC>TTA		ubiquitin-conjugating enzyme E2, J1							62.0	60.0	61.0					6																	90052151		2203	4300	6503	SO:0001583	missense	51465					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr6:90052151G>T	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.129C>A	6.37:g.90052151G>T	ENSP00000451261:p.Phe43Leu					UBE2J1_uc003pnc.2_Missense_Mutation_p.F43L	p.F43L	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0139)	4	302	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	43			Cytoplasmic (Potential).		A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	37	c.129C>A	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346224	0.82022	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.35421	1.31	5.07	5.07	0.68467	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	H	0.94222	3.51	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.71800	-0.4483	10	0.87932	D	0	-9.2058	10.5473	0.45068	0.1515:0.0:0.8485:0.0	.	43	Q9Y385	UB2J1_HUMAN	L	43;28	ENSP00000451261:F43L	ENSP00000354684:F43L	F	-	3	2	UBE2J1	90108870	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.825000	0.48096	2.506000	0.84524	0.655000	0.94253	TTC		0.378	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2		NM_016021		12	39	1	0	5.50884e-06	1	5.79878e-06	12	39		
KLHL32	114792	broad.mit.edu	37	6	97489422	97489422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:97489422G>A	ENST00000369261.4	+	4	622	c.259G>A	c.(259-261)Ggt>Agt	p.G87S	KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000536676.1_Intron|KLHL32_ENST00000544166.1_De_novo_Start_OutOfFrame	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	87	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TAATTTGCACGGTGTGACCAG	0.428																																						uc010kcm.1		NaN																	0				ovary(3)|skin(1)	4						c.(259-261)GGT>AGT		kelch-like 32							158.0	137.0	144.0					6																	97489422		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97489422G>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.259G>A	6.37:g.97489422G>A	ENSP00000358265:p.Gly87Ser					KLHL32_uc003poy.2_Missense_Mutation_p.G87S|KLHL32_uc011ead.1_Intron|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Intron|KLHL32_uc003ppa.2_RNA	p.G87S	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	4	731	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	87			BTB.		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.259G>A	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949286	0.92660	.	.	ENSG00000186231	ENST00000369255;ENST00000369261;ENST00000369254	T;T	0.71461	-0.57;-0.57	5.07	5.07	0.68467	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	T	0.78061	-0.2351	10	0.56958	D	0.05	.	17.3848	0.87413	0.0:0.0:1.0:0.0	.	87;87	Q96NJ5;Q6IQ08	KLH32_HUMAN;.	S	13;87;87	ENSP00000358265:G87S;ENSP00000358258:G87S	ENSP00000358258:G87S	G	+	1	0	KLHL32	97596143	1.000000	0.71417	0.964000	0.40570	0.843000	0.47879	8.807000	0.91935	2.630000	0.89119	0.591000	0.81541	GGT		0.428	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1		NM_052904		10	91	0	0	0	1	0	10	91		
GRIK2	2898	broad.mit.edu	37	6	102503216	102503216	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:102503216C>G	ENST00000421544.1	+	15	2813	c.2323C>G	c.(2323-2325)Cga>Gga	p.R775G	GRIK2_ENST00000369138.1_Missense_Mutation_p.R775G|GRIK2_ENST00000369137.3_Missense_Mutation_p.R699G|GRIK2_ENST00000413795.1_Missense_Mutation_p.R775G|GRIK2_ENST00000318991.6_Missense_Mutation_p.R775G|GRIK2_ENST00000369134.4_Missense_Mutation_p.R726G	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	775					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTCTCCATATCGAGACAAAAT	0.408																																						uc003pqp.3		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2323-2325)CGA>GGA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						64.0	65.0	65.0					6																	102503216		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503216C>G		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2323C>G	6.37:g.102503216C>G	ENSP00000397026:p.Arg775Gly					GRIK2_uc003pqo.3_Missense_Mutation_p.R775G|GRIK2_uc010kcw.2_Missense_Mutation_p.R775G	p.R775G	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	2572	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	775			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2323C>G	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942803	0.53079	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61;2.61	5.68	-0.414	0.12359	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	M	0.78049	2.395	0.39240	D	0.963848	D;D;D	0.69078	0.996;0.997;0.996	D;D;D	0.72338	0.961;0.977;0.961	T	0.45629	-0.9248	10	0.87932	D	0	.	16.6212	0.84931	0.6726:0.3274:0.0:0.0	.	775;775;775	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	G	775;775;775;699;775;726;550	ENSP00000397026:R775G;ENSP00000405596:R775G;ENSP00000358134:R775G;ENSP00000358133:R699G;ENSP00000313276:R775G;ENSP00000358130:R726G	ENSP00000313276:R775G	R	+	1	2	GRIK2	102609909	0.973000	0.33851	0.579000	0.28588	0.930000	0.56654	0.680000	0.25306	0.220000	0.20860	0.585000	0.79938	CGA		0.408	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1				15	56	0	0	0	1	0	15	56		
MICAL1	64780	broad.mit.edu	37	6	109769984	109769984	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:109769984C>A	ENST00000358807.3	-	12	1926	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000358577.3_Missense_Mutation_p.D453Y|MICAL1_ENST00000368952.4_Missense_Mutation_p.D558Y	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	539	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCTAGCCCATCAGCCCAGGAG	0.622																																						uc003ptj.2		NaN																	0				breast(2)|ovary(1)	3						c.(1615-1617)GAT>TAT		microtubule associated monoxygenase, calponin							141.0	141.0	141.0					6																	109769984		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109769984C>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1615G>T	6.37:g.109769984C>A	ENSP00000351664:p.Asp539Tyr					MICAL1_uc003ptk.2_Missense_Mutation_p.D539Y|MICAL1_uc010kdr.2_Missense_Mutation_p.D453Y|MICAL1_uc011eaq.1_Missense_Mutation_p.D558Y	p.D539Y	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	11	1869	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	539			CH.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.1615G>T	CCDS5076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.72|11.72	1.721352|1.721352	0.30503|0.30503	.|.	.|.	ENSG00000135596|ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957|ENST00000433205	D;D;D|.	0.98044|.	-4.68;-4.68;-4.68|.	5.62|5.62	3.85|3.85	0.44370|0.44370	Calponin homology domain (5);|.	0.251366|.	0.41097|.	D|.	0.000944|.	T|.	0.52273|.	0.1724|.	M|M	0.91972|0.91972	3.26|3.26	0.25384|0.25384	N|N	0.988588|0.988588	D;D;D|.	0.64830|.	0.994;0.993;0.994|.	D;D;D|.	0.73708|.	0.981;0.932;0.959|.	T|.	0.55283|.	-0.8165|.	10|.	0.87932|.	D|.	0|.	.|.	7.6289|7.6289	0.28228|0.28228	0.0:0.743:0.0:0.257|0.0:0.743:0.0:0.257	.|.	558;453;539|.	B7Z3R5;Q8TDZ2-2;Q8TDZ2|.	.;.;MICA1_HUMAN|.	Y|L	539;558;453;63|100	ENSP00000351664:D539Y;ENSP00000357948:D558Y;ENSP00000351385:D453Y|.	ENSP00000351385:D453Y|.	D|X	-|-	1|2	0|2	MICAL1|MICAL1	109876677|109876677	0.001000|0.001000	0.12720|0.12720	0.596000|0.596000	0.28811|0.28811	0.065000|0.065000	0.16274|0.16274	0.786000|0.786000	0.26844|0.26844	0.745000|0.745000	0.32763|0.32763	-0.258000|-0.258000	0.10820|0.10820	GAT|TGA		0.622	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2		NM_022765		35	140	1	0	8.53417e-09	1	9.31001e-09	35	140		
ECT2L	345930	broad.mit.edu	37	6	139183796	139183796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:139183796C>G	ENST00000423192.1	+	10	1392	c.1231C>G	c.(1231-1233)Caa>Gaa	p.Q411E	ECT2L_ENST00000541398.1_Missense_Mutation_p.Q342E|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q411E			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	411							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGCTGTCTCAACTAACTGG	0.453			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1		NaN		Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					0					0						c.(1231-1233)CAA>GAA		epithelial cell transforming sequence 2							101.0	96.0	98.0					6																	139183796		1933	4135	6068	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139183796C>G		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1231C>G	6.37:g.139183796C>G	ENSP00000387388:p.Gln411Glu					ECT2L_uc011edq.1_Missense_Mutation_p.Q342E	p.Q411E	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			9	1334	+			411					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1231C>G	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309316	0.60414	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75260	0.19;0.19;-0.92	6.16	6.16	0.99307	.	0.437392	0.15041	U	0.283842	T	0.68513	0.3009	M	0.70595	2.14	0.33826	D	0.629661	P;P	0.44429	0.835;0.745	B;B	0.41271	0.352;0.192	T	0.72050	-0.4407	10	0.38643	T	0.18	2.7831	17.7766	0.88510	0.0:1.0:0.0:0.0	.	342;411	F5H7S9;Q008S8	.;ECT2L_HUMAN	E	411;411;342	ENSP00000387388:Q411E;ENSP00000356655:Q411E;ENSP00000442307:Q342E	ENSP00000356655:Q411E	Q	+	1	0	ECT2L	139225489	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.342000	0.59341	2.937000	0.99478	0.650000	0.86243	CAA		0.453	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3		NM_001077706		9	65	0	0	0	1	0	9	65		
SASH1	23328	broad.mit.edu	37	6	148848652	148848652	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:148848652C>G	ENST00000367467.3	+	12	1823	c.1348C>G	c.(1348-1350)Ctt>Gtt	p.L450V		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	450					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCGCATCTCTCTTGGGAAAAA	0.418																																						uc003qme.1		NaN																	0				central_nervous_system(1)	1						c.(1348-1350)CTT>GTT		SAM and SH3 domain containing 1							115.0	113.0	114.0					6																	148848652		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148848652C>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1348C>G	6.37:g.148848652C>G	ENSP00000356437:p.Leu450Val					SASH1_uc011eeb.1_Missense_Mutation_p.L211V|SASH1_uc003qmf.1_5'UTR	p.L450V	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	12	1823	+		Ovarian(120;0.0169)	450					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1348C>G	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813915	0.90790	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.61274	0.12	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	M	0.81341	2.54	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78375	-0.2228	10	0.87932	D	0	-14.1107	19.4529	0.94875	0.0:1.0:0.0:0.0	.	431;450	Q6P4R9;O94885	.;SASH1_HUMAN	V	450;211	ENSP00000356437:L450V	ENSP00000356437:L450V	L	+	1	0	SASH1	148890345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.727000	0.68523	2.596000	0.87737	0.643000	0.83706	CTT		0.418	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1		NM_015278		21	73	0	0	0	1	0	21	73		
MTHFD1L	25902	broad.mit.edu	37	6	151270192	151270192	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:151270192C>T	ENST00000367321.3	+	16	1923	c.1649C>T	c.(1648-1650)cCg>cTg	p.P550L		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	550	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AAGACTGATCCGAGCACACTG	0.453																																						uc003qob.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1648-1650)CCG>CTG		methylenetetrahydrofolate dehydrogenase (NADP+							89.0	82.0	84.0					6																	151270192		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151270192C>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1649C>T	6.37:g.151270192C>T	ENSP00000356290:p.Pro550Leu					MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.P551L|MTHFD1L_uc003qoc.2_Missense_Mutation_p.P498L	p.P550L	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	16	1917	+		Ovarian(120;0.128)	550			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.1649C>T	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046210	0.93740	.	.	ENSG00000120254	ENST00000367321	T	0.16196	2.36	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	H	0.95504	3.68	0.80722	D	1	D;D;D	0.65815	0.992;0.995;0.994	P;D;P	0.70935	0.757;0.971;0.764	T	0.57631	-0.7778	10	0.32370	T	0.25	.	20.0524	0.97632	0.0:1.0:0.0:0.0	.	551;305;550	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	L	550	ENSP00000356290:P550L	ENSP00000356290:P550L	P	+	2	0	MTHFD1L	151311885	1.000000	0.71417	0.926000	0.36857	0.837000	0.47467	7.544000	0.82117	2.733000	0.93635	0.543000	0.68304	CCG		0.453	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1		NM_015440		15	17	0	0	0	1	0	15	17		
SYNE1	23345	broad.mit.edu	37	6	152642938	152642938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:152642938G>A	ENST00000367255.5	-	83	16602	c.16001C>T	c.(16000-16002)tCt>tTt	p.S5334F	SYNE1_ENST00000265368.4_Missense_Mutation_p.S5334F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S5263F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5007F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S5263F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5334					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)	p.S5334Y(2)		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)		ACATTTCACAGAATTGATCTG	0.398										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	2	Substitution - Missense(2)		large_intestine(2)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(16000-16002)TCT>TTT		spectrin repeat containing, nuclear envelope 1							172.0	162.0	166.0					6																	152642938		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.chr6:152642938G>A	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.16001C>T	6.37:g.152642938G>A	ENSP00000356224:p.Ser5334Phe	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.S5263F|SYNE1_uc003qou.3_Missense_Mutation_p.S5334F|SYNE1_uc010kiz.2_Missense_Mutation_p.S1089F	p.S5334F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	83	16603	-		Ovarian(120;0.0955)	5334			Cytoplasmic (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.16001C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728639	0.30593	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55930	0.58;0.58;0.49;0.58;0.66	5.53	5.53	0.82687	.	0.230089	0.31082	N	0.008285	T	0.41259	0.1151	M	0.62723	1.935	0.80722	D	1	P;B;B;P	0.43094	0.799;0.382;0.382;0.517	B;B;B;B	0.44315	0.446;0.099;0.099;0.187	T	0.49844	-0.8896	10	0.52906	T	0.07	.	8.6015	0.33747	0.0825:0.0:0.7628:0.1547	.	5334;5334;5334;5263	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	5334;5263;5334;5263;5007	ENSP00000356224:S5334F;ENSP00000396024:S5263F;ENSP00000265368:S5334F;ENSP00000390975:S5263F;ENSP00000341887:S5007F	ENSP00000265368:S5334F	S	-	2	0	SYNE1	152684631	0.278000	0.24230	0.995000	0.50966	0.978000	0.69477	3.692000	0.54727	2.605000	0.88082	0.655000	0.94253	TCT		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		24	77	0	0	0	1	0	24	77		
SYNE1	23345	broad.mit.edu	37	6	152719867	152719867	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:152719867C>G	ENST00000367255.5	-	49	7839		c.e49-1		SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2451Q|SYNE1_ENST00000448038.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		TGCATAGACTCTTTTGAAAGa	0.368										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.e49-1		spectrin repeat containing, nuclear envelope 1							76.0	75.0	76.0					6																	152719867		2203	4300	6503	SO:0001630	splice_region_variant	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.chr6:152719867C>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.7238-1G>C	6.37:g.152719867C>G		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Splice_Site_p.E2420_splice|SYNE1_uc003qou.3_Splice_Site_p.E2413_splice|SYNE1_uc010kjb.1_Splice_Site_p.E2396_splice	p.E2413_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	49	7840	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37	c.7238_splice	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.092250|4.092250	0.76756|0.76756	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038|ENST00000341594	.|T	.|0.49720	.|0.77	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.912782	.|0.09278	.|N	.|0.824181	.|T	.|0.53061	.|0.1773	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48536	.|-0.9027	.|6	.|.	.|.	.|.	.|.	18.7063|18.7063	0.91640|0.91640	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|Q	-1|2451	.|ENSP00000341887:E2451Q	.|.	.|E	-|-	.|1	.|0	SYNE1|SYNE1	152761560|152761560	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.868000|0.868000	0.49771|0.49771	5.020000|5.020000	0.64066|0.64066	2.463000|2.463000	0.83235|0.83235	0.655000|0.655000	0.94253|0.94253	.|GAG		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	Intron	17	54	0	0	0	1	0	17	54		
ARID1B	57492	broad.mit.edu	37	6	157528459	157528459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:157528459G>T	ENST00000350026.5	+	19	6146	c.6145G>T	c.(6145-6147)Gag>Tag	p.E2049*	ARID1B_ENST00000346085.5_Nonsense_Mutation_p.E2062*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.E2044*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.E2102*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2049					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCGTCTGCAGAGGCACAAGA	0.532																																						uc003qqn.2		NaN																	0				ovary(1)|breast(1)	2						c.(6130-6132)GAG>TAG		AT rich interactive domain 1B (SWI1-like)							147.0	150.0	149.0					6																	157528459		2203	4296	6499	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528459G>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6145G>T	6.37:g.157528459G>T	ENSP00000055163:p.Glu2049*					ARID1B_uc003qqo.2_Nonsense_Mutation_p.E2004*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.E1991*	p.E2044*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6282	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2049					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.6130G>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	45	11.836587	0.99608	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.5612	0.95373	0.0:0.0:1.0:0.0	.	.	.	.	X	2062;2049;2102;2044;1571	.	ENSP00000275248:E2044X	E	+	1	0	ARID1B	157570151	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	9.803000	0.99136	2.687000	0.91594	0.655000	0.94253	GAG		0.532	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		NM_020732		42	110	1	0	8.69298e-16	1	9.90339e-16	42	110		
IGF2R	3482	broad.mit.edu	37	6	160525708	160525708	+	Silent	SNP	G	G	A	rs185172347	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:160525708G>A	ENST00000356956.1	+	48	7216	c.7068G>A	c.(7066-7068)gtG>gtA	p.V2356V	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2356					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CCTGGCAGGTGAATAAGGAAG	0.567																																						uc003qta.2		NaN																	0				ovary(3)	3						c.(7066-7068)GTG>GTA		insulin-like growth factor 2 receptor precursor							66.0	63.0	64.0					6																	160525708		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160525708G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.7068G>A	6.37:g.160525708G>A							p.V2356V	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	48	7216	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2356			Cytoplasmic (Potential).		Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.7068G>A	CCDS5273.1																																																																																				0.567	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876		8	36	0	0	0	1	0	8	36		
RPS6KA2	6196	broad.mit.edu	37	6	166864689	166864689	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:166864689G>A	ENST00000265678.4	-	13	1331	c.1108C>T	c.(1108-1110)Cat>Tat	p.H370Y	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.H281Y|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.H395Y|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.H378Y|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.H281Y	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	370	AGC-kinase C-terminal.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		AACAGGTGATGAGCGTTTGCA	0.557																																						uc003qvb.1		NaN																	0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1108-1110)CAT>TAT		ribosomal protein S6 kinase, 90kDa, polypeptide							148.0	141.0	144.0					6																	166864689		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166864689G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1108C>T	6.37:g.166864689G>A	ENSP00000265678:p.His370Tyr					RPS6KA2_uc011ego.1_Missense_Mutation_p.H281Y|RPS6KA2_uc010kkl.1_Missense_Mutation_p.H281Y|RPS6KA2_uc003qvc.1_Missense_Mutation_p.H378Y|RPS6KA2_uc003qvd.1_Missense_Mutation_p.H395Y	p.H370Y	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	13	1327	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	370			AGC-kinase C-terminal.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.1108C>T	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870939	0.33069	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	4.36	4.36	0.52297	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.90252	3.1	0.80722	D	1	B;B;P	0.49559	0.221;0.01;0.925	B;B;D	0.67900	0.309;0.089;0.954	T	0.77509	-0.2561	10	0.54805	T	0.06	.	16.0966	0.81129	0.0:0.0:1.0:0.0	.	395;378;370	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	Y	370;395;378;281;281	ENSP00000265678:H370Y;ENSP00000422435:H395Y;ENSP00000427015:H378Y;ENSP00000422484:H281Y;ENSP00000386050:H281Y	ENSP00000265678:H370Y	H	-	1	0	RPS6KA2	166784679	1.000000	0.71417	0.002000	0.10522	0.010000	0.07245	8.900000	0.92551	2.278000	0.76064	0.561000	0.74099	CAT		0.557	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3		NM_021135		21	39	0	0	0	1	0	21	39		
RPS6KA2	6196	broad.mit.edu	37	6	166864716	166864716	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:166864716G>T	ENST00000265678.4	-	13	1304	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.P272T|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.P386T|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.P369T|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.P272T	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	361	AGC-kinase C-terminal.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGGACGCCAGGAGAGTCTGTA	0.547																																						uc003qvb.1		NaN																	0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1081-1083)CCT>ACT		ribosomal protein S6 kinase, 90kDa, polypeptide							105.0	104.0	104.0					6																	166864716		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166864716G>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1081C>A	6.37:g.166864716G>T	ENSP00000265678:p.Pro361Thr					RPS6KA2_uc011ego.1_Missense_Mutation_p.P272T|RPS6KA2_uc010kkl.1_Missense_Mutation_p.P272T|RPS6KA2_uc003qvc.1_Missense_Mutation_p.P369T|RPS6KA2_uc003qvd.1_Missense_Mutation_p.P386T	p.P361T	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	13	1300	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	361			AGC-kinase C-terminal.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.1081C>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937642	0.34189	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	4.36	4.36	0.52297	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	M	0.93898	3.47	0.80722	D	1	P;B;D	0.76494	0.455;0.434;0.999	P;B;D	0.85130	0.461;0.209;0.997	D	0.85287	0.1065	10	0.87932	D	0	.	16.0966	0.81129	0.0:0.0:1.0:0.0	.	386;369;361	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	T	361;386;369;272;272	ENSP00000265678:P361T;ENSP00000422435:P386T;ENSP00000427015:P369T;ENSP00000422484:P272T;ENSP00000386050:P272T	ENSP00000265678:P361T	P	-	1	0	RPS6KA2	166784706	1.000000	0.71417	0.263000	0.24496	0.009000	0.06853	8.900000	0.92551	2.278000	0.76064	0.561000	0.74099	CCT		0.547	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3		NM_021135		17	40	1	0	3.32936e-07	1	3.55508e-07	17	40		
TTYH3	80727	broad.mit.edu	37	7	2686589	2686589	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:2686589G>A	ENST00000258796.7	+	2	431	c.226G>A	c.(226-228)Gag>Aag	p.E76K	TTYH3_ENST00000407643.1_Missense_Mutation_p.E76K|TTYH3_ENST00000403167.1_5'Flank	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	76					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCGCAAGAGCGAGGAGCACCT	0.716																																						uc003smp.2		NaN																	0					0						c.(226-228)GAG>AAG		tweety 3							23.0	21.0	21.0					7																	2686589		2189	4290	6479	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2686589G>A		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.226G>A	7.37:g.2686589G>A	ENSP00000258796:p.Glu76Lys					TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank	p.E76K	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	2	413	+		Ovarian(82;0.0112)	76			Cytoplasmic (Potential).		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.226G>A	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586402	0.46110	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000400376	T;T;T	0.11712	2.75;2.75;2.75	4.96	4.96	0.65561	.	0.177262	0.50627	D	0.000102	T	0.07458	0.0188	L	0.29908	0.895	0.80722	D	1	P	0.43701	0.815	B	0.34385	0.181	T	0.20739	-1.0266	10	0.06625	T	0.88	.	18.1965	0.89823	0.0:0.0:1.0:0.0	.	76	Q9C0H2	TTYH3_HUMAN	K	76;76;83	ENSP00000258796:E76K;ENSP00000385316:E76K;ENSP00000383227:E83K	ENSP00000258796:E76K	E	+	1	0	TTYH3	2653115	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	3.535000	0.53575	2.292000	0.77174	0.561000	0.74099	GAG		0.716	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2		XM_166523		4	10	0	0	0	1	0	4	10		
RBAK	57786	broad.mit.edu	37	7	5105215	5105215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5105215G>C	ENST00000353796.3	+	6	2452	c.2128G>C	c.(2128-2130)Gat>Cat	p.D710H	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.D710H	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	710	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAACGTACTTGATGTGGAAAA	0.368																																						uc010kss.1		NaN																	0				ovary(3)|kidney(1)|skin(1)	5						c.(2128-2130)GAT>CAT		RB-associated KRAB repressor							44.0	49.0	47.0					7																	5105215		2145	4269	6414	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5105215G>C	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.2128G>C	7.37:g.5105215G>C	ENSP00000275423:p.Asp710His					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.D710H	p.D710H	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	2452	+		Ovarian(82;0.0175)	710			Interaction with AR.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.2128G>C	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	5.649	0.304372	0.10678	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.07327	3.2;3.2	3.63	-2.42	0.06542	.	1.171500	0.06276	N	0.696550	T	0.09862	0.0242	L	0.58510	1.815	0.25729	N	0.985281	B	0.14012	0.009	B	0.12156	0.007	T	0.40232	-0.9574	8	.	.	.	.	9.7949	0.40728	0.6909:0.0:0.3091:0.0	.	710	Q9NYW8	RBAK_HUMAN	H	710	ENSP00000275423:D710H;ENSP00000380120:D710H	.	D	+	1	0	RBAK	5071741	0.000000	0.05858	0.000000	0.03702	0.741000	0.42261	-0.307000	0.08167	-0.554000	0.06150	0.455000	0.32223	GAT		0.368	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2		NM_021163		15	86	0	0	0	1	0	15	86		
TNRC18	84629	broad.mit.edu	37	7	5352267	5352267	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5352267C>G	ENST00000430969.1	-	27	8603	c.8255G>C	c.(8254-8256)aGa>aCa	p.R2752T	TNRC18_ENST00000399537.4_Missense_Mutation_p.R2752T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2752							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GACGCCCTCTCTCTTCTTGGG	0.716																																						uc003soi.3		NaN																	0					0						c.(8254-8256)AGA>ACA		trinucleotide repeat containing 18							30.0	32.0	32.0					7																	5352267		1532	3494	5026	SO:0001583	missense	84629						DNA binding	g.chr7:5352267C>G	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8255G>C	7.37:g.5352267C>G	ENSP00000395538:p.Arg2752Thr						p.R2752T	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8604	-		Ovarian(82;0.142)	2752					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8255G>C	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.27|12.27	1.887526|1.887526	0.33348|0.33348	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399544|ENST00000399537;ENST00000430969	.|T;T	.|0.13778	.|2.56;2.57	4.21|4.21	4.21|4.21	0.49690|0.49690	.|.	1.451370|.	0.04961|.	N|.	0.462102|.	T|T	0.32734|0.32734	0.0839|0.0839	L|L	0.53249|0.53249	1.67|1.67	0.39881|0.39881	D|D	0.973632|0.973632	.|D	.|0.71674	.|0.998	.|D	.|0.78314	.|0.991	T|T	0.10268|0.10268	-1.0637|-1.0637	7|9	0.87932|0.45353	D|T	0|0.12	.|.	16.904|16.904	0.86120|0.86120	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2752	.|O15417	.|TNC18_HUMAN	Q|T	1265|2752	.|ENSP00000382452:R2752T;ENSP00000395538:R2752T	ENSP00000382459:E1265Q|ENSP00000382452:R2752T	E|R	-|-	1|2	0|0	TNRC18|TNRC18	5318793|5318793	1.000000|1.000000	0.71417|0.71417	0.608000|0.608000	0.28969|0.28969	0.025000|0.025000	0.11179|0.11179	7.038000|7.038000	0.76537|0.76537	2.022000|2.022000	0.59522|0.59522	0.484000|0.484000	0.47621|0.47621	GAG|AGA		0.716	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					14	67	0	0	0	1	0	14	67		
FBXL18	80028	broad.mit.edu	37	7	5540603	5540603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5540603C>T	ENST00000382368.3	-	3	1420	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	FBXL18_ENST00000453700.3_Missense_Mutation_p.D433N	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	433									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ggcgcgcggtcggcgcgcggc	0.741																																						uc003soo.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1297-1299)GAC>AAC		F-box and leucine-rich repeat protein 18							7.0	9.0	8.0					7																	5540603		2054	3959	6013	SO:0001583	missense	80028							g.chr7:5540603C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1297G>A	7.37:g.5540603C>T	ENSP00000371805:p.Asp433Asn					FBXL18_uc003son.3_Missense_Mutation_p.D433N	p.D433N	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1391	-		Ovarian(82;0.0607)	433					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.1297G>A	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691703	0.30052	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.47177	0.89;0.85	5.15	4.24	0.50183	.	0.210738	0.50627	D	0.000114	T	0.26340	0.0643	N	0.24115	0.695	0.09310	N	1	B;B	0.33494	0.414;0.005	B;B	0.18263	0.021;0.003	T	0.10823	-1.0613	10	0.28530	T	0.3	.	7.9499	0.30008	0.1608:0.7584:0.0:0.0808	.	433;433	F5H4Z4;Q96ME1-4	.;.	N	433	ENSP00000371805:D433N;ENSP00000444797:D433N	ENSP00000311990:D433N	D	-	1	0	FBXL18	5507129	.	.	0.772000	0.31596	0.006000	0.05464	.	.	1.262000	0.44165	0.585000	0.79938	GAC		0.741	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1		NM_024963		5	11	0	0	0	1	0	5	11		
AGR2	10551	broad.mit.edu	37	7	16841376	16841376	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:16841376G>C	ENST00000419304.2	-	2	197	c.45C>G	c.(43-45)ctC>ctG	p.L15L	AGR2_ENST00000486219.1_5'Flank|AGR2_ENST00000419572.2_Silent_p.L35L|AGR2_ENST00000401412.1_Silent_p.L15L	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	15					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GAGTGTAGGAGAGGGCCACAA	0.478																																						uc003str.2		NaN																	0					0						c.(43-45)CTC>CTG		anterior gradient 2 homolog precursor							164.0	154.0	158.0					7																	16841376		2203	4300	6503	SO:0001819	synonymous_variant	10551				mucus secretion	endoplasmic reticulum|extracellular region	protein binding	g.chr7:16841376G>C	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"""Protein disulfide isomerases"""	328	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 17"""	606358	"""anterior gradient 2 homolog (Xenopus laevis)"""			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.45C>G	7.37:g.16841376G>C						AGR2_uc011jxy.1_Silent_p.L15L	p.L15L	NM_006408	NP_006399	O95994	AGR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	2	232	-	Lung NSC(10;0.0376)|all_lung(11;0.0855)		15						Silent	SNP	ENST00000419304.2	37	c.45C>G	CCDS5364.1																																																																																				0.478	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2		NM_006408		14	80	0	0	0	1	0	14	80		
AHR	196	broad.mit.edu	37	7	17373647	17373647	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:17373647C>A	ENST00000242057.4	+	7	1460	c.817C>A	c.(817-819)Cag>Aag	p.Q273K		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	273					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|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)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TACTCCACTTCAGCCACCATC	0.403																																						uc011jxz.1		NaN																	0				urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(817-819)CAG>AAG		aryl hydrocarbon receptor precursor							116.0	116.0	116.0					7																	17373647		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17373647C>A	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.817C>A	7.37:g.17373647C>A	ENSP00000242057:p.Gln273Lys					AHR_uc003stt.3_RNA	p.Q273K	NM_001621	NP_001612	P35869	AHR_HUMAN			7	1430	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		273					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.817C>A	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950164	0.92660	.	.	ENSG00000106546	ENST00000242057	T	0.06068	3.35	6.17	6.17	0.99709	PAS (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	M	0.91406	3.205	0.80722	D	1	P	0.39071	0.658	B	0.37144	0.242	T	0.03933	-1.0991	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	273	P35869	AHR_HUMAN	K	273	ENSP00000242057:Q273K	ENSP00000242057:Q273K	Q	+	1	0	AHR	17340172	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.735000	0.84939	2.941000	0.99782	0.655000	0.94253	CAG		0.403	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2		NM_001621		20	94	1	0	3.76869e-24	1	4.34849e-24	20	94		
HDAC9	9734	broad.mit.edu	37	7	18801875	18801875	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:18801875G>T	ENST00000432645.2	+	14	2130	c.2130G>T	c.(2128-2130)caG>caT	p.Q710H	HDAC9_ENST00000406451.4_Missense_Mutation_p.Q710H|HDAC9_ENST00000441542.2_Missense_Mutation_p.Q713H|HDAC9_ENST00000401921.1_Missense_Mutation_p.Q669H	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	710	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGACGGACAGAAGCTGGACC	0.512																																						uc003suh.2		NaN																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2128-2130)CAG>CAT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						60.0	60.0	60.0					7																	18801875		1955	4150	6105	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18801875G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2130G>T	7.37:g.18801875G>T	ENSP00000410337:p.Gln710His					HDAC9_uc003sue.2_Missense_Mutation_p.Q710H|HDAC9_uc011jyd.1_Missense_Mutation_p.Q710H|HDAC9_uc003sui.2_Missense_Mutation_p.Q713H|HDAC9_uc003suj.2_Missense_Mutation_p.Q669H|HDAC9_uc003sua.1_Missense_Mutation_p.Q688H	p.Q710H	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			14	2171	+	all_lung(11;0.187)		710			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2130G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937110	0.73557	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.56	5.56	0.83823	Histone deacetylase domain (2);	0.000000	0.56097	D	0.000023	T	0.79718	0.4494	L	0.50993	1.605	0.80722	D	1	P;B;B;B;B;B	0.51057	0.941;0.019;0.005;0.003;0.005;0.006	P;B;B;B;B;B	0.60236	0.871;0.005;0.005;0.003;0.005;0.009	T	0.76564	-0.2913	10	0.38643	T	0.18	-9.8829	19.9052	0.97004	0.0:0.0:1.0:0.0	.	710;669;713;710;710;688	Q9UKV0-4;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;HDAC9_HUMAN;.;.	H	710;669;710;713;622	ENSP00000384657:Q710H;ENSP00000383912:Q669H;ENSP00000410337:Q710H;ENSP00000408617:Q713H	ENSP00000339165:Q622H	Q	+	3	2	HDAC9	18768400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.172000	0.58243	2.776000	0.95493	0.655000	0.94253	CAG		0.512	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1				5	30	1	0	5.9392e-07	1	6.33113e-07	5	30		
OSBPL3	26031	broad.mit.edu	37	7	24849449	24849449	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:24849449G>A	ENST00000313367.2	-	20	2745	c.2294C>T	c.(2293-2295)tCt>tTt	p.S765F	OSBPL3_ENST00000431825.2_Missense_Mutation_p.S698F|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S729F|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S698F|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S729F|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S734F|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S734F	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	765					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACAGGCAGAAGAGGAGCCGCC	0.547																																						uc003sxf.2		NaN																	0				skin(1)	1						c.(2293-2295)TCT>TTT		oxysterol-binding protein-like protein 3 isoform							92.0	81.0	85.0					7																	24849449		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24849449G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2294C>T	7.37:g.24849449G>A	ENSP00000315410:p.Ser765Phe					OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.S729F|OSBPL3_uc003sxh.2_Missense_Mutation_p.S734F|OSBPL3_uc003sxi.2_Missense_Mutation_p.S698F	p.S765F	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			20	2699	-			765					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.2294C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767544	0.69878	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.4	5.4	0.78164	.	0.058526	0.64402	D	0.000001	T	0.54631	0.1870	M	0.70842	2.15	0.80722	D	1	P;D;P;D	0.56287	0.907;0.975;0.812;0.958	P;P;P;P	0.60609	0.751;0.851;0.567;0.877	T	0.56414	-0.7983	10	0.72032	D	0.01	-14.2874	19.5543	0.95335	0.0:0.0:1.0:0.0	.	698;734;729;765	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	F	765;734;729;698;734;729;698	ENSP00000315410:S765F;ENSP00000315331:S734F;ENSP00000315277:S729F;ENSP00000389779:S698F;ENSP00000379708:S734F;ENSP00000379706:S729F;ENSP00000386953:S698F	ENSP00000315410:S765F	S	-	2	0	OSBPL3	24815974	1.000000	0.71417	0.937000	0.37676	0.013000	0.08279	6.567000	0.73983	2.687000	0.91594	0.557000	0.71058	TCT		0.547	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2				29	55	0	0	0	1	0	29	55		
SNX10	29887	broad.mit.edu	37	7	26412157	26412157	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:26412157G>A	ENST00000338523.4	+	7	758	c.571G>A	c.(571-573)Gga>Aga	p.G191R	SNX10_ENST00000409367.1_Missense_Mutation_p.G151R|AC004540.4_ENST00000451368.1_RNA|SNX10_ENST00000446848.2_Missense_Mutation_p.G217R|SNX10_ENST00000462993.1_3'UTR|AC004540.4_ENST00000451264.1_RNA|SNX10_ENST00000396376.1_Missense_Mutation_p.G191R|SNX10_ENST00000409838.1_Missense_Mutation_p.G107R	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	191					cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						CAGTTCACATGGATGTAAAGT	0.373																																						uc003sxx.2		NaN																	0					0						c.(571-573)GGA>AGA		sorting nexin 10							154.0	164.0	160.0					7																	26412157		2203	4300	6503	SO:0001583	missense	29887				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding	g.chr7:26412157G>A	AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"""Sorting nexins"""	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.571G>A	7.37:g.26412157G>A	ENSP00000343709:p.Gly191Arg					SNX10_uc011jzg.1_Missense_Mutation_p.G214R|SNX10_uc010kuu.2_Missense_Mutation_p.G191R|SNX10_uc010kuv.2_Missense_Mutation_p.G187R|SNX10_uc010kuw.2_Missense_Mutation_p.G107R	p.G191R	NM_013322	NP_037454	Q9Y5X0	SNX10_HUMAN			7	786	+			191					E9PFH5|Q8IYT5	Missense_Mutation	SNP	ENST00000338523.4	37	c.571G>A	CCDS5399.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777726	0.70107	.	.	ENSG00000086300	ENST00000338523;ENST00000446848;ENST00000396376;ENST00000409367;ENST00000409838	T;T;T;T;T	0.72394	-0.03;-0.23;-0.03;-0.65;0.09	5.33	5.33	0.75918	.	0.380708	0.29501	N	0.011980	T	0.79730	0.4496	L	0.50333	1.59	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73307	-0.4024	10	0.12103	T	0.63	.	19.0273	0.92937	0.0:0.0:1.0:0.0	.	217;191	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	R	191;217;191;151;107	ENSP00000343709:G191R;ENSP00000395474:G217R;ENSP00000379661:G191R;ENSP00000387274:G151R;ENSP00000386540:G107R	ENSP00000343709:G191R	G	+	1	0	SNX10	26378682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.054000	0.64275	2.470000	0.83445	0.650000	0.86243	GGA		0.373	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1				25	162	0	0	0	1	0	25	162		
EVX1	2128	broad.mit.edu	37	7	27284678	27284678	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:27284678G>A	ENST00000496902.4	+	2	925	c.439G>A	c.(439-441)Gag>Aag	p.E147K	EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Silent_p.P128P|EVX1_ENST00000535619.1_5'UTR|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000519050.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	147					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GTCCGGCTCCGAGGCGCTGGT	0.672																																						uc003szd.1		NaN																	0				skin(1)	1						c.(439-441)GAG>AAG		even-skipped homeobox 1							36.0	42.0	40.0					7																	27284678		2194	4284	6478	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27284678G>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.439G>A	7.37:g.27284678G>A	ENSP00000419266:p.Glu147Lys					EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Silent_p.P128P	p.E147K	NM_001989	NP_001980	P49640	EVX1_HUMAN			2	925	+			147					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.439G>A	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504876	0.26949	.	.	ENSG00000106038	ENST00000496902	D	0.91295	-2.82	5.27	5.27	0.74061	.	0.729531	0.13470	N	0.385476	D	0.86451	0.5936	L	0.43152	1.355	0.80722	D	1	B	0.21381	0.055	B	0.12156	0.007	T	0.79974	-0.1577	10	0.05620	T	0.96	-8.2256	18.8712	0.92315	0.0:0.0:1.0:0.0	.	147	P49640	EVX1_HUMAN	K	147	ENSP00000419266:E147K	ENSP00000419266:E147K	E	+	1	0	EVX1	27251203	1.000000	0.71417	0.635000	0.29338	0.865000	0.49528	7.421000	0.80204	2.461000	0.83175	0.462000	0.41574	GAG		0.672	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3				19	64	0	0	0	1	0	19	64		
TAX1BP1	8887	broad.mit.edu	37	7	27831832	27831832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:27831832G>A	ENST00000396319.2	+	9	1334	c.1246G>A	c.(1246-1248)Gct>Act	p.A416T	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A416T|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A259T|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A416T|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A416T	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	416	Oligomerization.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TAAACTAAATGCTATGAAAAA	0.353																																						uc003szl.2		NaN																	0				breast(1)	1						c.(1246-1248)GCT>ACT		Tax1 (human T-cell leukemia virus type I)							56.0	53.0	54.0					7																	27831832		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27831832G>A	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1246G>A	7.37:g.27831832G>A	ENSP00000379612:p.Ala416Thr					TAX1BP1_uc011jzo.1_Missense_Mutation_p.A416T|TAX1BP1_uc003szk.2_Missense_Mutation_p.A416T|TAX1BP1_uc011jzp.1_Missense_Mutation_p.A259T	p.A416T	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		9	1404	+			416			Oligomerization.|Potential.		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.1246G>A	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	4.948	0.176111	0.09443	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98	6.05	2.22	0.28083	.	0.381500	0.22124	N	0.064293	T	0.06050	0.0157	L	0.29908	0.895	0.23107	N	0.998285	B;B;B	0.22003	0.063;0.011;0.002	B;B;B	0.22152	0.038;0.034;0.006	T	0.39272	-0.9622	10	0.12103	T	0.63	-8.4288	4.1745	0.10345	0.2112:0.1098:0.5668:0.1123	.	259;416;416	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	T	416;416;416;259;416	ENSP00000444811:A416T;ENSP00000265393:A416T;ENSP00000386515:A416T;ENSP00000391907:A259T;ENSP00000379612:A416T	ENSP00000265393:A416T	A	+	1	0	TAX1BP1	27798357	0.103000	0.21917	0.479000	0.27329	0.400000	0.30750	0.351000	0.20096	0.887000	0.36136	-0.907000	0.02831	GCT		0.353	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1		NM_006024		7	24	0	0	0	1	0	7	24		
PLEKHA8	84725	broad.mit.edu	37	7	30087570	30087570	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:30087570G>A	ENST00000449726.1	+	4	786	c.436G>A	c.(436-438)Gag>Aag	p.E146K	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.E146K|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.E146K|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.E146K|PLEKHA8_ENST00000483799.1_3'UTR	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	146					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GTCCAATTCTGAGGtaaaata	0.284																																						uc003tam.1		NaN																	0				breast(3)|ovary(1)	4						c.(436-438)GAG>AAG		pleckstrin homology domain containing, family A							34.0	33.0	34.0					7																	30087570		2203	4299	6502	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30087570G>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.436G>A	7.37:g.30087570G>A	ENSP00000397947:p.Glu146Lys					PLEKHA8_uc003tao.2_Missense_Mutation_p.E30K|PLEKHA8_uc003tap.1_Missense_Mutation_p.E146K|PLEKHA8_uc003tan.2_Missense_Mutation_p.E146K	p.E146K	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN			4	527	+			146					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.436G>A	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731281	0.48939	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.49	3.26	0.37387	.	0.057801	0.64402	D	0.000002	T	0.37705	0.1013	N	0.14661	0.345	0.49299	D	0.999779	B;B;B;B	0.13145	0.004;0.002;0.004;0.007	B;B;B;B	0.13407	0.009;0.003;0.006;0.004	T	0.17018	-1.0383	9	0.34782	T	0.22	-26.4833	10.6479	0.45632	0.0856:0.1385:0.7759:0.0	.	146;146;146;146	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	K	146;146;146;146;172	.	ENSP00000258679:E146K	E	+	1	0	PLEKHA8	30054095	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	3.398000	0.52579	1.256000	0.44068	0.561000	0.74099	GAG		0.284	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032639		14	40	0	0	0	1	0	14	40		
NT5C3A	51251	broad.mit.edu	37	7	33057059	33057059	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:33057059C>T	ENST00000242210.7	-	7	776	c.700G>A	c.(700-702)Gat>Aat	p.D234N	NT5C3A_ENST00000610140.1_Missense_Mutation_p.D229N|NT5C3A_ENST00000409787.1_Missense_Mutation_p.D195N|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D195N|NT5C3A_ENST00000396152.2_Missense_Mutation_p.D195N|NT5C3A_ENST00000381626.2_Missense_Mutation_p.D183N|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409467.1_Missense_Mutation_p.D183N	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	234					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										ACAGTTTCATCAAAATCCATA	0.284																																						uc003tdk.2		NaN																	0				ovary(1)	1						c.(700-702)GAT>AAT		5'-nucleotidase, cytosolic III isoform 1							60.0	57.0	58.0					7																	33057059		2203	4300	6503	SO:0001583	missense	51251				nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr7:33057059C>T	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.700G>A	7.37:g.33057059C>T	ENSP00000242210:p.Asp234Asn					AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.D195N|NT5C3_uc003tdj.2_Missense_Mutation_p.D195N	p.D234N	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		7	777	-			234					A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.700G>A	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542430	0.85917	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.29	5.29	0.74685	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85588	0.1244	10	0.19590	T	0.45	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	234;195	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	N	183;195;234;195;183;195	ENSP00000371039:D183N;ENSP00000379456:D195N;ENSP00000242210:D234N;ENSP00000385261:D195N;ENSP00000387166:D183N;ENSP00000387205:D195N	ENSP00000242210:D234N	D	-	1	0	NT5C3	33023584	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.037000	0.70956	2.473000	0.83533	0.655000	0.94253	GAT		0.284	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1		NM_016489		13	50	0	0	0	1	0	13	50		
POLM	27434	broad.mit.edu	37	7	44119254	44119254	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:44119254G>C	ENST00000242248.5	-	4	659	c.558C>G	c.(556-558)ctC>ctG	p.L186L	POLM_ENST00000395831.3_Silent_p.L186L|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Silent_p.L186L	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	186					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GAAGGGCCTTGAGCACCGAGG	0.627								DNA polymerases (catalytic subunits)																														uc003tjt.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(556-558)CTC>CTG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase mu							57.0	60.0	59.0					7																	44119254		2203	4300	6503	SO:0001819	synonymous_variant	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44119254G>C	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.558C>G	7.37:g.44119254G>C						POLM_uc003tju.2_Silent_p.L186L|POLM_uc003tjx.2_Silent_p.L186L|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Silent_p.L186L|POLM_uc011kbu.1_Silent_p.L153L|POLM_uc010kxy.2_Silent_p.L186L	p.L186L	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN			4	650	-			186					D3DVK4|Q6P5X8|Q86WQ9	Silent	SNP	ENST00000242248.5	37	c.558C>G	CCDS34625.1																																																																																				0.627	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1		NM_013284		14	79	0	0	0	1	0	14	79		
NPC1L1	29881	broad.mit.edu	37	7	44561680	44561680	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:44561680C>T	ENST00000289547.4	-	11	2854	c.2799G>A	c.(2797-2799)aaG>aaA	p.K933K	NPC1L1_ENST00000546276.1_Silent_p.K887K|NPC1L1_ENST00000381160.3_Silent_p.K933K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	933					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CATACTGGATCTTCTGGGTGA	0.562																																						uc003tlb.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2797-2799)AAG>AAA		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						102.0	93.0	96.0					7																	44561680		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44561680C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2799G>A	7.37:g.44561680C>T						NPC1L1_uc003tlc.2_Silent_p.K933K|NPC1L1_uc011kbw.1_Silent_p.K887K|NPC1L1_uc003tla.2_5'Flank	p.K933K	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			11	2855	-			933			Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.2799G>A	CCDS5491.1																																																																																				0.562	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1		NM_013389		9	56	0	0	0	1	0	9	56		
ZPBP	11055	broad.mit.edu	37	7	50070753	50070753	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:50070753G>C	ENST00000046087.2	-	5	710	c.641C>G	c.(640-642)tCt>tGt	p.S214C	ZPBP_ENST00000419417.1_Missense_Mutation_p.S213C|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	214					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					ATGGCATTCAGACTTAAGTAA	0.328																																						uc003tou.2		NaN																	0					0						c.(640-642)TCT>TGT		zona pellucida binding protein isoform 1							76.0	80.0	79.0					7																	50070753		2203	4299	6502	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50070753G>C	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.641C>G	7.37:g.50070753G>C	ENSP00000046087:p.Ser214Cys					ZPBP_uc011kci.1_Missense_Mutation_p.S140C|ZPBP_uc010kyw.2_Missense_Mutation_p.S213C	p.S214C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			5	711	-	Glioma(55;0.08)|all_neural(89;0.245)		214					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.641C>G	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828221	0.50845	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.55234	0.53;0.53	5.05	4.17	0.49024	.	0.000000	0.56097	D	0.000031	T	0.67487	0.2898	M	0.68317	2.08	0.40773	D	0.983109	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.68911	-0.5284	9	.	.	.	-12.318	11.7199	0.51677	0.0836:0.0:0.9164:0.0	.	213;214	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	C	214;213	ENSP00000046087:S214C;ENSP00000402071:S213C	.	S	-	2	0	ZPBP	50041299	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.632000	0.67819	1.262000	0.44165	0.655000	0.94253	TCT		0.328	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1		NM_007009		10	85	0	0	0	1	0	10	85		
COBL	23242	broad.mit.edu	37	7	51092923	51092923	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:51092923G>C	ENST00000265136.7	-	12	3816	c.3651C>G	c.(3649-3651)ctC>ctG	p.L1217L	RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000395542.2_Silent_p.L1299L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1217					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTGGTGCAGAGAGAGCCTGGG	0.642																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NaN																	0				skin(3)|ovary(2)	5						c.(3649-3651)CTC>CTG		cordon-bleu homolog							35.0	33.0	34.0					7																	51092923		2203	4299	6502	SO:0001819	synonymous_variant	23242							g.chr7:51092923G>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3651C>G	7.37:g.51092923G>C						COBL_uc003tps.2_Silent_p.L1227L|COBL_uc011kcl.1_Silent_p.L1170L|COBL_uc003tpp.3_Silent_p.L1003L|COBL_uc003tpq.3_Silent_p.L1111L|COBL_uc003tpo.3_Silent_p.L759L	p.L1217L	NM_015198	NP_056013	O75128	COBL_HUMAN			12	3836	-	Glioma(55;0.08)		1217					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.3651C>G	CCDS34637.1																																																																																				0.642	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1		NM_015198		11	34	0	0	0	1	0	11	34		
SBDS	51119	broad.mit.edu	37	7	66459252	66459252	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:66459252C>T	ENST00000246868.2	-	2	388	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	TYW1_ENST00000359626.5_5'Flank	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	69					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						ATGAGATCTTCCTTTTTGGCA	0.438			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													uc003tvm.1		NaN	yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		AML|MDS			0				ovary(1)	1						c.(205-207)GAA>AAA		Shwachman-Bodian-Diamond syndrome protein							151.0	130.0	137.0					7																	66459252		2203	4300	6503	SO:0001583	missense	51119	Shwachman-Diamond_syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66459252C>T	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.205G>A	7.37:g.66459252C>T	ENSP00000246868:p.Glu69Lys					TYW1_uc003tvn.2_5'Flank|TYW1_uc010lai.2_5'Flank	p.E69K	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN			2	389	-			69					A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	ENST00000246868.2	37	c.205G>A	CCDS5537.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327467	0.41197	.	.	ENSG00000126524	ENST00000246868	D	0.96011	-3.88	4.95	3.05	0.35203	Ribosome maturation protein SBDS, N-terminal (2);	0.137271	0.64402	D	0.000003	D	0.90188	0.6933	N	0.17922	0.545	0.80722	D	1	B	0.13594	0.008	B	0.35353	0.201	T	0.82188	-0.0581	10	0.16420	T	0.52	-13.6045	8.0242	0.30427	0.1587:0.7538:0.0:0.0875	.	69	Q9Y3A5	SBDS_HUMAN	K	69	ENSP00000246868:E69K	ENSP00000246868:E69K	E	-	1	0	SBDS	66096687	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.761000	0.74945	1.273000	0.44346	0.561000	0.74099	GAA		0.438	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2		NM_016038		21	201	0	0	0	1	0	21	201		
POM121	9883	broad.mit.edu	37	7	72414059	72414059	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:72414059G>C	ENST00000434423.2	+	11	3527	c.3527G>C	c.(3526-3528)gGa>gCa	p.G1176A	POM121_ENST00000446813.1_Missense_Mutation_p.G911A|POM121_ENST00000358357.3_Missense_Mutation_p.G911A|POM121_ENST00000395270.1_Missense_Mutation_p.G911A|POM121_ENST00000257622.4_Missense_Mutation_p.G911A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1176	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCTGTGTTTGGAGGTAAGGAG	0.602																																						uc003twk.2		NaN																	0					0						c.(3526-3528)GGA>GCA		nuclear pore membrane protein 121							27.0	28.0	28.0					7																	72414059		2203	4298	6501	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72414059G>C	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3527G>C	7.37:g.72414059G>C	ENSP00000405562:p.Gly1176Ala					POM121_uc003twj.2_Missense_Mutation_p.G911A|POM121_uc010lam.1_Missense_Mutation_p.G911A	p.G1176A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	3527	+		Lung NSC(55;0.163)	1176			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.3527G>C		.	.	.	.	.	.	.	.	.	.	G	10.54	1.378051	0.24944	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.15256	2.44;2.53;2.44;2.53;2.76	3.01	3.01	0.34805	.	0.000000	0.38436	N	0.001685	T	0.41143	0.1146	M	0.79926	2.475	0.35800	D	0.823049	D;D	0.71674	0.998;0.998	D;D	0.85130	0.997;0.997	T	0.57370	-0.7823	10	0.62326	D	0.03	.	11.6158	0.51090	0.0:0.0:1.0:0.0	.	911;1176	A8MXF9;Q96HA1	.;P121A_HUMAN	A	911;911;911;911;1176	ENSP00000393020:G911A;ENSP00000257622:G911A;ENSP00000378687:G911A;ENSP00000351124:G911A;ENSP00000405562:G1176A	ENSP00000257622:G911A	G	+	2	0	POM121	72051995	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	5.800000	0.69108	1.684000	0.51022	0.391000	0.25812	GGA		0.602	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1				5	20	0	0	0	1	0	5	20		
CROT	54677	broad.mit.edu	37	7	87006664	87006664	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:87006664G>A	ENST00000331536.3	+	10	1061		c.e10-1		CROT_ENST00000442291.1_Splice_Site|CROT_ENST00000419147.2_Splice_Site	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATTTATTTTAGATTATTGCAG	0.323																																						uc003uit.2		NaN																	0				ovary(2)|lung(1)	3						c.e10-1		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						63.0	65.0	64.0					7																	87006664		2203	4298	6501	SO:0001630	splice_region_variant	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87006664G>A		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.877-1G>A	7.37:g.87006664G>A						CROT_uc003uiu.2_Splice_Site_p.I321_splice	p.I293_splice	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			10	1122	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)							A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Splice_Site	SNP	ENST00000331536.3	37	c.877_splice	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896480	0.52121	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CROT	86844600	1.000000	0.71417	0.986000	0.45419	0.356000	0.29392	8.537000	0.90631	2.894000	0.99253	0.591000	0.81541	.		0.323	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1		NM_021151	Intron	9	19	0	0	0	1	0	9	19		
DBF4	10926	broad.mit.edu	37	7	87536669	87536669	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:87536669G>C	ENST00000265728.1	+	12	1720	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	406					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CCAGGAAACTGAAAAAAAGCT	0.383																																						uc003ujf.1		NaN																	0				lung(2)	2						c.(1216-1218)GAA>CAA		activator of S phase kinase							67.0	73.0	71.0					7																	87536669		2203	4300	6503	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87536669G>C	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1216G>C	7.37:g.87536669G>C	ENSP00000265728:p.Glu406Gln					DBF4_uc003ujh.1_Missense_Mutation_p.E146Q|DBF4_uc003ujg.1_Missense_Mutation_p.E182Q|DBF4_uc011khf.1_Missense_Mutation_p.E173Q	p.E406Q	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			12	1720	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	406					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1216G>C	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	5.472	0.272110	0.10349	.	.	ENSG00000006634	ENST00000265728	T	0.33216	1.42	5.68	2.62	0.31277	.	0.407810	0.25388	N	0.031028	T	0.17066	0.0410	L	0.34521	1.04	0.09310	N	1	P;P	0.45902	0.868;0.454	B;B	0.34038	0.174;0.057	T	0.13602	-1.0503	10	0.33141	T	0.24	-7.5508	9.0049	0.36106	0.0726:0.0:0.6618:0.2656	.	182;406	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	Q	406	ENSP00000265728:E406Q	ENSP00000265728:E406Q	E	+	1	0	DBF4	87374605	0.986000	0.35501	0.862000	0.33874	0.007000	0.05969	1.678000	0.37586	1.408000	0.46895	0.655000	0.94253	GAA		0.383	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1		NM_006716		12	84	0	0	0	1	0	12	84		
MTERF1	7978	broad.mit.edu	37	7	91503796	91503796	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:91503796C>T	ENST00000351870.3	-	3	405	c.312G>A	c.(310-312)gaG>gaA	p.E104E	MTERF_ENST00000419292.1_Silent_p.E84E|MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000406735.2_Silent_p.E84E	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		104					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TCAGGTCCTGCTCATTGGTAA	0.418																																						uc003ulb.1		NaN																	0					0						c.(310-312)GAG>GAA		mitochondrial transcription termination factor							154.0	138.0	143.0					7																	91503796		2203	4300	6503	SO:0001819	synonymous_variant	7978				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	g.chr7:91503796C>T																												ENST00000351870.3:c.312G>A	7.37:g.91503796C>T						MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Silent_p.E104E|MTERF_uc011khm.1_Silent_p.E84E|MTERF_uc010leu.1_Silent_p.E84E	p.E104E	NM_006980	NP_008911	Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	356	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		104					A4D1E3|Q32NF8|Q53H51|Q9BVR7	Silent	SNP	ENST00000351870.3	37	c.312G>A	CCDS5621.1																																																																																				0.418	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1				24	119	0	0	0	1	0	24	119		
CYP3A7	1551	broad.mit.edu	37	7	99332708	99332708	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99332708G>C	ENST00000336374.2	-	1	11	c.9C>G	c.(7-9)ctC>ctG	p.L3L		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	3					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.L3L(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGTTTGGGATGAGATCCATCA	0.507																																						uc003uru.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(7-9)CTC>CTG		cytochrome P450, family 3, subfamily A,							179.0	147.0	158.0					7																	99332708		2203	4300	6503	SO:0001819	synonymous_variant	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99332708G>C	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.9C>G	7.37:g.99332708G>C						ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_5'UTR|CYP3A5_uc010lgg.2_Silent_p.L3L	p.L3L	NM_000765	NP_000756	P24462	CP3A7_HUMAN			1	114	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		3					A4D288|Q9H241	Silent	SNP	ENST00000336374.2	37	c.9C>G	CCDS5673.1																																																																																				0.507	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1				11	63	0	0	0	1	0	11	63		
AP4M1	9179	broad.mit.edu	37	7	99704109	99704109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99704109G>A	ENST00000359593.4	+	14	1267	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	AP4M1_ENST00000429084.1_Missense_Mutation_p.G377E|AP4M1_ENST00000421755.1_Missense_Mutation_p.G370E|AP4M1_ENST00000422582.1_Missense_Mutation_p.G242E	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	370	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGGTGCAAGGAGGCTCTCAA	0.632																																					Pancreas(174;1182 2812 29595 49511)	uc003utb.3		NaN																	0					0						c.(1108-1110)GGA>GAA		adaptor-related protein complex 4, mu 1 subunit							41.0	44.0	43.0					7																	99704109		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99704109G>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.1109G>A	7.37:g.99704109G>A	ENSP00000352603:p.Gly370Glu					AP4M1_uc010lgl.1_Missense_Mutation_p.G345E|AP4M1_uc003utc.3_Missense_Mutation_p.G377E|AP4M1_uc010lgm.2_Missense_Mutation_p.G242E|AP4M1_uc003utd.2_Missense_Mutation_p.G370E|AP4M1_uc011kjh.1_Missense_Mutation_p.G322E|AP4M1_uc003ute.3_Missense_Mutation_p.G145E|AP4M1_uc003utf.3_Missense_Mutation_p.G242E	p.G370E	NM_004722	NP_004713	O00189	AP4M1_HUMAN			14	1317	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		370			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.1109G>A	CCDS5685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.785468|4.785468	0.90282|0.90282	.|.	.|.	ENSG00000221838|ENSG00000221838	ENST00000445295|ENST00000438383;ENST00000429084;ENST00000359593;ENST00000421755;ENST00000422582;ENST00000450807	.|T;T;T;T;T;T	.|0.24350	.|1.86;1.86;1.86;1.86;1.86;1.86	4.81|4.81	4.81|4.81	0.61882|0.61882	.|Clathrin adaptor, mu subunit, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57607|0.57607	0.2065|0.2065	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;0.999	T|T	0.66388|0.66388	-0.5936|-0.5936	5|10	.|0.87932	.|D	.|0	-0.8514|-0.8514	15.4139|15.4139	0.74948|0.74948	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|322;377;370	.|B4DKN7;C9JC87;O00189	.|.;.;AP4M1_HUMAN	K|E	96|302;377;370;370;242;122	.|ENSP00000401613:G302E;ENSP00000403663:G377E;ENSP00000352603:G370E;ENSP00000412185:G370E;ENSP00000406676:G242E;ENSP00000391585:G122E	.|ENSP00000352603:G370E	E|G	+|+	1|2	0|0	AP4M1|AP4M1	99542045|99542045	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.806000|7.806000	0.86020|0.86020	2.501000|2.501000	0.84356|0.84356	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.632	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4		NM_004722		4	27	0	0	0	1	0	4	27		
C7orf43	55262	broad.mit.edu	37	7	99755503	99755503	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99755503G>A	ENST00000316937.3	-	2	655	c.470C>T	c.(469-471)tCa>tTa	p.S157L	C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000394035.2_5'Flank|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000457641.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	157										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTATCCAGTGAAACGGTGAG	0.537																																						uc003utr.2		NaN																	0					0						c.(469-471)TCA>TTA		hypothetical protein LOC55262							97.0	83.0	88.0					7																	99755503		2203	4300	6503	SO:0001583	missense	55262							g.chr7:99755503G>A		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.470C>T	7.37:g.99755503G>A	ENSP00000324741:p.Ser157Leu					C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003uts.2_5'UTR	p.S157L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN			2	650	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		157					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	37	c.470C>T	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074826	0.94000	.	.	ENSG00000146826	ENST00000316937	T	0.48836	0.8	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000003	T	0.57695	0.2071	L	0.27053	0.805	0.80722	D	1	D	0.61080	0.989	D	0.72625	0.978	T	0.60944	-0.7162	10	0.87932	D	0	-7.0284	17.2304	0.86983	0.0:0.0:1.0:0.0	.	157	Q8WVR3	CG043_HUMAN	L	157	ENSP00000324741:S157L	ENSP00000324741:S157L	S	-	2	0	C7orf43	99593439	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.283000	0.72646	2.667000	0.90743	0.462000	0.41574	TCA		0.537	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2		NM_018275		22	37	0	0	0	1	0	22	37		
MUC17	140453	broad.mit.edu	37	7	100684352	100684352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100684352G>A	ENST00000306151.4	+	3	9719	c.9655G>A	c.(9655-9657)Gaa>Aaa	p.E3219K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3219	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.E3219K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGGAATGAC	0.498																																						uc003uxp.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9655-9657)GAA>AAA		mucin 17 precursor							278.0	280.0	279.0					7																	100684352		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684352G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9655G>A	7.37:g.100684352G>A	ENSP00000302716:p.Glu3219Lys					MUC17_uc010lho.1_RNA	p.E3219K	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9708	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3219			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9655G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.294498	0.23564	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	0.441	0.441	0.16577	.	.	.	.	.	T	0.02727	0.0082	N	0.12182	0.205	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.36286	-0.9754	9	0.06757	T	0.87	.	6.7709	0.23593	2.0E-4:0.0:0.9998:0.0	.	3219	Q685J3	MUC17_HUMAN	K	3219	ENSP00000302716:E3219K	ENSP00000302716:E3219K	E	+	1	0	MUC17	100471072	0.003000	0.15002	0.003000	0.11579	0.036000	0.12997	-0.178000	0.09782	0.508000	0.28173	0.134000	0.15878	GAA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		93	430	0	0	0	1	0	93	430		
MUC17	140453	broad.mit.edu	37	7	100684883	100684883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100684883G>T	ENST00000306151.4	+	3	10250	c.10186G>T	c.(10186-10188)Gaa>Taa	p.E3396*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3396	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGTCCTAGTGAAGGAACCAC	0.498																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10186-10188)GAA>TAA		mucin 17 precursor							292.0	300.0	297.0					7																	100684883		2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684883G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10186G>T	7.37:g.100684883G>T	ENSP00000302716:p.Glu3396*					MUC17_uc010lho.1_RNA	p.E3396*	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	10239	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3396			Extracellular (Potential).|55.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.10186G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	49	15.356310	0.99831	.	.	ENSG00000169876	ENST00000306151	.	.	.	1.06	-0.104	0.13605	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	7.297	0.26399	0.0:0.267:0.733:0.0	.	.	.	.	X	3396	.	ENSP00000302716:E3396X	E	+	1	0	MUC17	100471603	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-1.333000	0.02247	-1.184000	0.01707	GAA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		98	436	1	0	2.63401e-43	1	3.0645e-43	98	436		
SERPINE1	5054	broad.mit.edu	37	7	100771918	100771918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100771918C>T	ENST00000223095.4	+	2	401	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	SERPINE1_ENST00000445463.2_Nonsense_Mutation_p.Q67*	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	82					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGCAGATTCAAGCAGCTAT	0.577																																						uc003uxt.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(244-246)CAA>TAA		plasminogen activator inhibitor-1 isoform 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						50.0	48.0	48.0					7																	100771918		2203	4300	6503	SO:0001587	stop_gained	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100771918C>T	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.244C>T	7.37:g.100771918C>T	ENSP00000223095:p.Gln82*					SERPINE1_uc011kkj.1_Nonsense_Mutation_p.Q67*|SERPINE1_uc003uxu.1_5'Flank	p.Q82*	NM_000602	NP_000593	P05121	PAI1_HUMAN			2	392	+	Lung NSC(181;0.136)|all_lung(186;0.182)		82					B7Z4S0|F8WD53	Nonsense_Mutation	SNP	ENST00000223095.4	37	c.244C>T	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392507	0.83011	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	.	.	.	5.71	2.7	0.31948	.	0.442651	0.25011	N	0.033824	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	14.6735	0.68961	0.0:0.5846:0.4153:0.0	.	.	.	.	X	82;67;67	.	ENSP00000223095:Q82X	Q	+	1	0	SERPINE1	100558638	0.273000	0.24181	0.949000	0.38748	0.444000	0.32077	0.531000	0.23052	0.738000	0.32606	0.655000	0.94253	CAA		0.577	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1		NM_000602		8	57	0	0	0	1	0	8	57		
PMPCB	9512	broad.mit.edu	37	7	102944862	102944862	+	Missense_Mutation	SNP	A	A	G	rs149104855	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:102944862A>G	ENST00000249269.4	+	6	699	c.661A>G	c.(661-663)Ata>Gta	p.I221V	PMPCB_ENST00000420236.2_Missense_Mutation_p.I116V|PMPCB_ENST00000428154.1_Missense_Mutation_p.I221V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	221					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTACAGATCTATAAGTCGTAA	0.318																																						uc003vbl.2		NaN																	0				ovary(4)	4						c.(661-663)ATA>GTA		mitochondrial processing peptidase beta subunit		A	VAL/ILE	3,4403	6.2+/-15.9	0,3,2200	81.0	85.0	84.0		661	5.7	1.0	7	dbSNP_134	84	0,8600		0,0,4300	no	missense	PMPCB	NM_004279.2	29	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	benign	221/490	102944862	3,13003	2203	4300	6503	SO:0001583	missense	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102944862A>G	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.661A>G	7.37:g.102944862A>G	ENSP00000249269:p.Ile221Val					PMPCB_uc010liu.1_Missense_Mutation_p.I221V|PMPCB_uc003vbk.1_Missense_Mutation_p.I221V|PMPCB_uc003vbm.2_Missense_Mutation_p.I130V|PMPCB_uc010liv.2_Missense_Mutation_p.I127V|PMPCB_uc010liw.2_Missense_Mutation_p.I130V|PMPCB_uc011kll.1_Missense_Mutation_p.I116V|PMPCB_uc011klm.1_Missense_Mutation_p.I96V	p.I221V	NM_004279	NP_004270	O75439	MPPB_HUMAN			6	695	+			221					O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	c.661A>G	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588283	0.86851	6.81E-4	0.0	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.09817	2.94;2.94;2.94	5.74	5.74	0.90152	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	M	0.82823	2.61	0.80722	D	1	P;P;P;P;P;P;P	0.51449	0.722;0.74;0.87;0.933;0.933;0.933;0.945	P;P;P;P;P;P;P	0.57152	0.774;0.588;0.812;0.812;0.812;0.812;0.814	T	0.07046	-1.0793	10	0.56958	D	0.05	.	16.0546	0.80788	1.0:0.0:0.0:0.0	.	116;116;221;221;212;221;221	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	V	221;221;116	ENSP00000249269:I221V;ENSP00000390035:I221V;ENSP00000410393:I116V	ENSP00000249269:I221V	I	+	1	0	PMPCB	102732098	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.137000	0.71710	2.191000	0.70037	0.528000	0.53228	ATA		0.318	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1		NM_004279		18	49	0	0	0	1	0	18	49		
LAMB1	3912	broad.mit.edu	37	7	107638920	107638920	+	Missense_Mutation	SNP	G	G	T	rs375197101		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:107638920G>T	ENST00000222399.6	-	4	461	c.231C>A	c.(229-231)ttC>ttA	p.F77L	U3_ENST00000458938.1_RNA|LAMB1_ENST00000393560.1_Missense_Mutation_p.F77L|LAMB1_ENST00000393561.1_Missense_Mutation_p.F101L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	77	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AATTGCATATGAAGCATTTTT	0.363																																						uc003vew.2		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(229-231)TTC>TTA		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						119.0	110.0	113.0					7																	107638920		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107638920G>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.231C>A	7.37:g.107638920G>T	ENSP00000222399:p.Phe77Leu					LAMB1_uc003vev.2_Missense_Mutation_p.F101L|LAMB1_uc003vex.2_Missense_Mutation_p.F77L|LAMB1_uc010ljn.1_Missense_Mutation_p.F163L	p.F77L	NM_002291	NP_002282	P07942	LAMB1_HUMAN			4	566	-			77			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.231C>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605800	0.87157	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560;ENST00000439976;ENST00000393559	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	6.08	5.2	0.72013	Laminin, N-terminal (3);	.	.	.	.	D	0.87079	0.6088	M	0.88450	2.955	0.58432	D	0.999996	D;D;D;P	0.76494	0.999;0.984;0.999;0.798	D;P;D;P	0.79108	0.992;0.761;0.986;0.526	D	0.88826	0.3302	9	0.72032	D	0.01	.	11.3864	0.49787	0.1373:0.0:0.8627:0.0	.	163;77;77;101	C9J296;E7EPA6;P07942;G3XAI2	.;.;LAMB1_HUMAN;.	L	101;77;77;163;77	ENSP00000377191:F101L;ENSP00000222399:F77L;ENSP00000377190:F77L;ENSP00000412686:F163L;ENSP00000377189:F77L	ENSP00000222399:F77L	F	-	3	2	LAMB1	107426156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.178000	0.58284	1.594000	0.50039	0.655000	0.94253	TTC		0.363	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1		NM_002291		10	70	1	0	0.000673444	1	0.000690993	10	70		
DOCK4	9732	broad.mit.edu	37	7	111400253	111400253	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:111400253G>A	ENST00000437633.1	-	39	4375	c.4119C>T	c.(4117-4119)ttC>ttT	p.F1373F	DOCK4_ENST00000428084.1_Silent_p.F1382F|DOCK4_ENST00000494651.2_Silent_p.F256F	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1373	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTCTGCCTGGAAGATGGTCT	0.547																																						uc003vfx.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(4117-4119)TTC>TTT		dedicator of cytokinesis 4							171.0	173.0	172.0					7																	111400253		2154	4244	6398	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111400253G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4119C>T	7.37:g.111400253G>A						DOCK4_uc011kml.1_Silent_p.F254F|DOCK4_uc011kmm.1_Silent_p.F280F|DOCK4_uc003vfw.2_Silent_p.F823F|DOCK4_uc003vfy.2_Silent_p.F1418F	p.F1373F	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			39	4388	-		Acute lymphoblastic leukemia(1;0.0441)	1373			DHR-2.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.4119C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255161	0.22965	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	4.72	3.84	0.44239	.	.	.	.	.	T	0.54935	0.1889	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51810	-0.8658	4	.	.	.	.	5.8297	0.18574	0.3297:0.0:0.6703:0.0	.	.	.	.	F	834;1406	.	.	S	-	2	0	DOCK4	111187489	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.412000	0.34714	1.345000	0.45676	0.591000	0.81541	TCC		0.547	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705		23	113	0	0	0	1	0	23	113		
PTPRZ1	5803	broad.mit.edu	37	7	121513587	121513587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:121513587C>G	ENST00000393386.2	+	1	445	c.34C>G	c.(34-36)Cag>Gag	p.Q12E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q12E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	12					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CGCTTGCATTCAGCTCCTCTG	0.617																																						uc003vjy.2		NaN																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(34-36)CAG>GAG		protein tyrosine phosphatase, receptor-type,							106.0	100.0	102.0					7																	121513587		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121513587C>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.34C>G	7.37:g.121513587C>G	ENSP00000377047:p.Gln12Glu					PTPRZ1_uc003vjz.2_Missense_Mutation_p.Q12E	p.Q12E	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			1	429	+			12					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.34C>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007472	0.35415	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.44083	0.96;0.93	4.27	4.27	0.50696	.	0.316743	0.22298	N	0.061903	T	0.32406	0.0828	L	0.29908	0.895	0.20873	N	0.999833	B;B	0.19200	0.034;0.008	B;B	0.18871	0.023;0.005	T	0.32903	-0.9889	10	0.72032	D	0.01	.	12.5241	0.56077	0.0:1.0:0.0:0.0	.	12;12	C9JFM0;P23471	.;PTPRZ_HUMAN	E	12	ENSP00000377047:Q12E;ENSP00000410000:Q12E	ENSP00000377047:Q12E	Q	+	1	0	PTPRZ1	121300823	0.986000	0.35501	0.774000	0.31636	0.211000	0.24417	3.502000	0.53332	2.031000	0.59945	0.561000	0.74099	CAG		0.617	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851		9	24	0	0	0	1	0	9	24		
SND1	27044	broad.mit.edu	37	7	127544799	127544799	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:127544799G>A	ENST00000354725.3	+	14	1648		c.e14-1			NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1						gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTCCTTAACAGAGCTATTAAG	0.443																																						uc003vmi.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.e14-1		staphylococcal nuclease domain containing 1							133.0	125.0	128.0					7																	127544799		2203	4300	6503	SO:0001630	splice_region_variant	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127544799G>A		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1455-1G>A	7.37:g.127544799G>A						SND1_uc010lle.2_Splice_Site_p.R138_splice	p.R485_splice	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			14	1681	+								Q13122|Q96AG0	Splice_Site	SNP	ENST00000354725.3	37	c.1455_splice	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164575	0.78339	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0345	0.89296	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SND1	127332035	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.162000	0.77515	2.865000	0.98341	0.655000	0.94253	.		0.443	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1		NM_014390	Intron	9	41	0	0	0	1	0	9	41		
CCDC136	64753	broad.mit.edu	37	7	128452893	128452893	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:128452893G>A	ENST00000297788.4	+	14	3040	c.2673G>A	c.(2671-2673)ctG>ctA	p.L891L	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	891						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGAAAGACCTGAAGGAAGAGC	0.532																																						uc003vnv.1		NaN																	0				ovary(2)	2						c.(2671-2673)CTG>CTA		coiled-coil domain containing 136							58.0	61.0	60.0					7																	128452893		1965	4158	6123	SO:0001819	synonymous_variant	64753					integral to membrane	protein binding	g.chr7:128452893G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2673G>A	7.37:g.128452893G>A						CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Silent_p.L707L|CCDC136_uc010llq.1_Silent_p.L260L|CCDC136_uc003vny.1_Silent_p.L501L	p.L891L	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			14	3040	+			891			Potential.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	c.2673G>A	CCDS47704.1																																																																																				0.532	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1		NM_022742		9	13	0	0	0	1	0	9	13		
MEST	4232	broad.mit.edu	37	7	130138063	130138063	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:130138063C>A	ENST00000223215.4	+	5	644	c.423C>A	c.(421-423)atC>atA	p.I141I	hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000437945.1_Silent_p.I141I|MEST_ENST00000393187.1_Silent_p.I132I|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000341441.5_Silent_p.I132I|MEST_ENST00000416162.2_Silent_p.I132I|MEST_ENST00000378576.4_Silent_p.I132I|MIR335_ENST00000362173.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	141					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					ACCGCAGGATCAACCTTCTTT	0.483																																					Colon(126;2182 2305 6517 35181)	uc003vqg.2		NaN																	0				ovary(2)	2						c.(421-423)ATC>ATA		mesoderm specific transcript isoform a							93.0	94.0	93.0					7																	130138063		2203	4300	6503	SO:0001819	synonymous_variant	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130138063C>A		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.423C>A	7.37:g.130138063C>A						MEST_uc003vqc.2_Silent_p.I132I|MEST_uc003vqd.2_Silent_p.I132I|MEST_uc003vqf.2_Silent_p.I132I|MEST_uc011kph.1_Silent_p.I127I|MEST_uc010lmg.2_Silent_p.I141I	p.I141I	NM_002402	NP_002393	Q5EB52	MEST_HUMAN			5	640	+	Melanoma(18;0.0435)		141					B2R6S1|O14973|O15007|Q6AI49|Q92571	Silent	SNP	ENST00000223215.4	37	c.423C>A	CCDS5822.1																																																																																				0.483	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2		NM_002402		19	73	1	0	5.03518e-11	1	5.60453e-11	19	73		
PLXNA4	91584	broad.mit.edu	37	7	131825454	131825454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:131825454G>A	ENST00000359827.3	-	30	6304	c.5342C>T	c.(5341-5343)tCt>tTt	p.S1781F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1781F			Q9HCM2	PLXA4_HUMAN	plexin A4	1781					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGTGGAGCAAGAGTCCATGAA	0.542																																						uc003vra.3		NaN																	0				ovary(1)	1						c.(5341-5343)TCT>TTT		plexin A4 isoform 1							120.0	124.0	123.0					7																	131825454		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131825454G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5342C>T	7.37:g.131825454G>A	ENSP00000352882:p.Ser1781Phe					PLXNA4_uc003vqz.3_Missense_Mutation_p.S66F	p.S1781F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			30	5571	-			1781			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.5342C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912385	0.92178	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.14022	2.54;2.54	5.11	5.11	0.69529	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.056021	0.85682	D	0.000000	T	0.48484	0.1502	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61501	-0.7050	10	0.87932	D	0	.	18.5342	0.91004	0.0:0.0:1.0:0.0	.	1781	Q9HCM2	PLXA4_HUMAN	F	1781	ENSP00000323194:S1781F;ENSP00000352882:S1781F	ENSP00000323194:S1781F	S	-	2	0	PLXNA4	131475994	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.809000	0.99208	2.367000	0.80283	0.591000	0.81541	TCT		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		NM_181775		16	80	0	0	0	1	0	16	80		
EXOC4	60412	broad.mit.edu	37	7	132937919	132937919	+	Nonsense_Mutation	SNP	C	C	A	rs183280115		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:132937919C>A	ENST00000253861.4	+	1	91	c.62C>A	c.(61-63)tCg>tAg	p.S21*	EXOC4_ENST00000539845.1_5'Flank|EXOC4_ENST00000393161.2_Nonsense_Mutation_p.S21*	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	21					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAAGACCCCTCGGGGCTGCTC	0.617																																						uc003vrk.2		NaN																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(61-63)TCG>TAG		SEC8 protein isoform a							74.0	77.0	76.0					7																	132937919		2203	4300	6503	SO:0001587	stop_gained	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132937919C>A	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.62C>A	7.37:g.132937919C>A	ENSP00000253861:p.Ser21*					EXOC4_uc011kpo.1_5'Flank|EXOC4_uc003vri.2_Nonsense_Mutation_p.S21*|EXOC4_uc003vrj.2_Nonsense_Mutation_p.S21*	p.S21*	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			1	97	+		Esophageal squamous(399;0.129)	21					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Nonsense_Mutation	SNP	ENST00000253861.4	37	c.62C>A	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	37	6.414066	0.97546	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	17.3791	0.87400	0.0:1.0:0.0:0.0	.	.	.	.	X	21	.	ENSP00000253861:S21X	S	+	2	0	EXOC4	132588459	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.571000	0.60879	2.861000	0.98227	0.650000	0.86243	TCG		0.617	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1		NM_021807		12	60	1	0	2.27111e-07	1	2.43748e-07	12	60		
CALD1	800	broad.mit.edu	37	7	134618457	134618457	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:134618457G>A	ENST00000361675.2	+	5	1166	c.937G>A	c.(937-939)Gag>Aag	p.E313K	CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361388.2_Intron			Q05682	CALD1_HUMAN	caldesmon 1	313					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						agaggcagaagagagggaaag	0.473																																						uc003vrz.2		NaN																	0					0						c.(937-939)GAG>AAG		caldesmon 1 isoform 1							90.0	102.0	98.0					7																	134618457		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618457G>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.937G>A	7.37:g.134618457G>A	ENSP00000354826:p.Glu313Lys					CALD1_uc003vry.2_Intron|CALD1_uc003vsa.2_Intron|CALD1_uc003vsb.2_Intron|CALD1_uc010lmm.2_Intron|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Intron|CALD1_uc003vsd.2_Intron|CALD1_uc011kpu.1_Intron|CALD1_uc011kpv.1_Intron|CALD1_uc003vse.2_Missense_Mutation_p.E177K	p.E313K	NM_033138	NP_149129	Q05682	CALD1_HUMAN			5	1396	+			313					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.937G>A	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.736930	0.30774	.	.	ENSG00000122786	ENST00000361675	T	0.55413	0.52	4.54	3.61	0.41365	.	0.533910	0.14963	U	0.288280	T	0.47192	0.1432	L	0.50333	1.59	0.80722	D	1	B	0.21606	0.058	B	0.27076	0.076	T	0.27502	-1.0072	9	.	.	.	-15.5347	11.4629	0.50221	0.0:0.0:0.8193:0.1807	.	313	Q05682	CALD1_HUMAN	K	313	ENSP00000354826:E313K	.	E	+	1	0	CALD1	134268997	0.985000	0.35326	0.375000	0.26029	0.688000	0.40055	1.728000	0.38105	0.820000	0.34516	0.563000	0.77884	GAG		0.473	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1		NM_033138		4	2	0	0	0	1	0	4	2		
ATP6V0A4	50617	broad.mit.edu	37	7	138437408	138437408	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:138437408C>T	ENST00000310018.2	-	11	1273	c.991G>A	c.(991-993)Gat>Aat	p.D331N	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.D331N|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.D331N	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	331					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CGTGTGGCATCTGCCACCGGG	0.587																																						uc003vuf.2		NaN																	0				pancreas(1)	1						c.(991-993)GAT>AAT		ATPase, H+ transporting, lysosomal V0 subunit							90.0	72.0	78.0					7																	138437408		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138437408C>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.991G>A	7.37:g.138437408C>T	ENSP00000308122:p.Asp331Asn					ATP6V0A4_uc003vug.2_Missense_Mutation_p.D331N|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.D331N	p.D331N	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			10	1229	-			331			Cytoplasmic (Potential).		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.991G>A	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164151	0.78339	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.87412	-2.25;-2.25;-2.25	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94202	0.8139	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94398	0.7620	10	0.72032	D	0.01	-45.5988	19.6264	0.95679	0.0:1.0:0.0:0.0	.	331	Q9HBG4	VPP4_HUMAN	N	331	ENSP00000308122:D331N;ENSP00000376774:D331N;ENSP00000253856:D331N	ENSP00000308122:D331N	D	-	1	0	ATP6V0A4	138087948	1.000000	0.71417	0.134000	0.22075	0.162000	0.22319	7.574000	0.82434	2.717000	0.92951	0.655000	0.94253	GAT		0.587	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1		NM_020632		7	29	0	0	0	1	0	7	29		
ADCK2	90956	broad.mit.edu	37	7	140374519	140374519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:140374519G>A	ENST00000072869.4	+	2	1220	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ADCK2_ENST00000476491.1_Missense_Mutation_p.E348K	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	348	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TAGCTTGCCTGAGATTGTGGA	0.522																																						uc003vvy.1		NaN																	0					0						c.(1042-1044)GAG>AAG		aarF domain containing kinase 2							127.0	108.0	115.0					7																	140374519		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140374519G>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1042G>A	7.37:g.140374519G>A	ENSP00000072869:p.Glu348Lys					ADCK2_uc003vvz.2_Missense_Mutation_p.E348K	p.E348K	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN			2	1220	+	Melanoma(164;0.00956)		348			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.1042G>A	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	G	36	5.866875	0.97043	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.55234	0.53;0.53	5.61	5.61	0.85477	ABC-1 (1);	0.156351	0.47093	D	0.000255	T	0.75510	0.3859	M	0.82923	2.615	0.80722	D	1	D;D	0.63046	0.97;0.992	P;D	0.65573	0.779;0.936	T	0.77902	-0.2414	10	0.72032	D	0.01	-39.462	19.9959	0.97383	0.0:0.0:1.0:0.0	.	348;348	C9JE15;Q7Z695	.;ADCK2_HUMAN	K	348	ENSP00000072869:E348K;ENSP00000420512:E348K	ENSP00000072869:E348K	E	+	1	0	ADCK2	140020988	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.303000	0.96183	2.808000	0.96608	0.655000	0.94253	GAG		0.522	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1		NM_052853		9	28	0	0	0	1	0	9	28		
MGAM	8972	broad.mit.edu	37	7	141731552	141731552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:141731552G>C	ENST00000549489.2	+	13	1638	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	MGAM_ENST00000475668.2_Missense_Mutation_p.E515Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	515	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAAGGAATTTGAGCTTTTTCA	0.368																																						uc003vwy.2		NaN																	0				ovary(2)	2						c.(1543-1545)GAG>CAG		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						165.0	155.0	158.0					7																	141731552		1840	4089	5929	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141731552G>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1543G>C	7.37:g.141731552G>C	ENSP00000447378:p.Glu515Gln						p.E515Q	NM_004668	NP_004659	O43451	MGA_HUMAN			13	1597	+	Melanoma(164;0.0272)		515			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.1543G>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	6.407	0.443132	0.12164	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91464	-2.85	5.44	0.137	0.14787	Glycoside hydrolase, superfamily (1);	0.330357	0.25677	N	0.029026	T	0.78162	0.4240	N	0.19112	0.55	0.20926	N	0.999827	B	0.09022	0.002	B	0.09377	0.004	T	0.60677	-0.7216	10	0.14252	T	0.57	.	6.9263	0.24416	0.229:0.2406:0.5304:0.0	.	515	O43451	MGA_HUMAN	Q	515;515;392	ENSP00000447378:E515Q	ENSP00000316431:E392Q	E	+	1	0	MGAM	141378021	0.031000	0.19500	0.973000	0.42090	0.578000	0.36192	0.480000	0.22244	0.116000	0.18110	0.655000	0.94253	GAG		0.368	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3				16	82	0	0	0	1	0	16	82		
FAM131B	9715	broad.mit.edu	37	7	143053718	143053718	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143053718G>C	ENST00000409408.1	-	6	2632	c.924C>G	c.(922-924)ctC>ctG	p.L308L	FAM131B_ENST00000443739.2_Silent_p.L336L|FAM131B_ENST00000409578.1_Silent_p.L324L|FAM131B_ENST00000409346.1_Silent_p.L308L|FAM131B_ENST00000409222.3_Silent_p.L308L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	308										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCTTCCGGCTGAGAGCGGTAG	0.582																																						uc003wct.2		NaN																	0					0						c.(922-924)CTC>CTG		hypothetical protein LOC9715 isoform b							175.0	157.0	163.0					7																	143053718		2203	4300	6503	SO:0001819	synonymous_variant	9715							g.chr7:143053718G>C	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.924C>G	7.37:g.143053718G>C						FAM131B_uc010loz.2_Silent_p.L276L|FAM131B_uc003wcu.3_Silent_p.L308L|FAM131B_uc010lpa.2_Silent_p.L336L	p.L308L	NM_014690	NP_055505	Q86XD5	F131B_HUMAN			6	2630	-	Melanoma(164;0.205)		308					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Silent	SNP	ENST00000409408.1	37	c.924C>G	CCDS5882.1																																																																																				0.582	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1		NM_014690		33	143	0	0	0	1	0	33	143		
OR2A2	442361	broad.mit.edu	37	7	143806767	143806767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143806767C>T	ENST00000408979.2	+	1	161	c.92C>T	c.(91-93)tCt>tTt	p.S31F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGACTCTTCTCTGTCTTCTAT	0.517																																						uc011ktz.1		NaN																	0				skin(2)	2						c.(91-93)TCT>TTT		olfactory receptor, family 2, subfamily A,							158.0	155.0	156.0					7																	143806767		1999	4195	6194	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806767C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.92C>T	7.37:g.143806767C>T	ENSP00000386209:p.Ser31Phe						p.S31F	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	92	+	Melanoma(164;0.0783)		31			Helical; Name=1; (Potential).		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.92C>T	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016102	0.19355	.	.	ENSG00000221989	ENST00000408979	T	0.00565	6.56	3.61	0.484	0.16825	.	0.717193	0.10920	U	0.619540	T	0.00328	0.0010	N	0.10760	0.04	0.09310	N	1	B	0.13145	0.007	B	0.18871	0.023	T	0.42548	-0.9445	10	0.51188	T	0.08	-5.2525	4.0911	0.09970	0.0:0.3565:0.4384:0.205	.	31	Q6IF42	OR2A2_HUMAN	F	31	ENSP00000386209:S31F	ENSP00000386209:S31F	S	+	2	0	OR2A2	143437700	0.000000	0.05858	0.036000	0.18154	0.175000	0.22909	0.019000	0.13444	0.252000	0.21531	0.609000	0.83330	TCT		0.517	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1				19	126	0	0	0	1	0	19	126		
ARHGEF35	445328	broad.mit.edu	37	7	143884109	143884109	+	Silent	SNP	G	G	A	rs200115857		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143884109G>A	ENST00000378115.2	-	2	1497	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	ARHGEF35_ENST00000543357.1_Silent_p.I456I	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	456										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						GAGAGCATCTGATGGGCTCTA	0.512																																						uc003wdz.1		NaN																	0					0						c.(1366-1368)ATC>ATT		Rho guanine nucleotide exchange factor (GEF)							30.0	31.0	31.0					7																	143884109		2130	4136	6266	SO:0001819	synonymous_variant	445328							g.chr7:143884109G>A	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1368C>T	7.37:g.143884109G>A							p.I456I	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN			2	1486	-			456					Q6ZUI2	Silent	SNP	ENST00000378115.2	37	c.1368C>T	CCDS34770.1																																																																																				0.512	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1		NM_001003702		8	30	0	0	0	1	0	8	30		
GIMAP2	26157	broad.mit.edu	37	7	150389979	150389979	+	Missense_Mutation	SNP	T	T	C	rs138926685		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150389979T>C	ENST00000223293.5	+	3	699	c.605T>C	c.(604-606)aTt>aCt	p.I202T		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	202	AIG1-type G.					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)		ATGGACTGTATTGAGGATCTG	0.458																																						uc003who.2		NaN																	0				skin(1)	1						c.(604-606)ATT>ACT		GTPase, IMAP family member 2		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	166.0	148.0	154.0		605	1.5	0.0	7	dbSNP_134	154	0,8600		0,0,4300	no	missense	GIMAP2	NM_015660.2	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	202/338	150389979	1,13005	2203	4300	6503	SO:0001583	missense	26157					integral to membrane	GTP binding	g.chr7:150389979T>C	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.605T>C	7.37:g.150389979T>C	ENSP00000223293:p.Ile202Thr					GIMAP1_uc003whp.2_Intron	p.I202T	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	693	+			202					Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	c.605T>C	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.190449	0.38707	2.27E-4	0.0	ENSG00000106560	ENST00000223293	T	0.08634	3.07	3.96	1.48	0.22813	AIG1 (1);	0.309791	0.29972	N	0.010722	T	0.22666	0.0547	M	0.75085	2.285	0.19775	N	0.999957	P	0.46457	0.878	D	0.71414	0.973	T	0.02431	-1.1160	10	0.62326	D	0.03	.	5.8652	0.18771	0.0:0.2244:0.0:0.7756	.	202	Q9UG22	GIMA2_HUMAN	T	202	ENSP00000223293:I202T	ENSP00000223293:I202T	I	+	2	0	GIMAP2	150020912	0.065000	0.20965	0.000000	0.03702	0.017000	0.09413	2.863000	0.48396	0.206000	0.20587	-0.297000	0.09499	ATT		0.458	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1		NM_015660		59	88	0	0	0	1	0	59	88		
KCNH2	3757	broad.mit.edu	37	7	150649798	150649798	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150649798G>A	ENST00000262186.5	-	6	1673	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	KCNH2_ENST00000392968.2_Silent_p.F328F|KCNH2_ENST00000430723.3_Silent_p.F424F|KCNH2_ENST00000330883.4_Silent_p.F84F	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	424					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGTAGGGTGTGAAGACAGCCG	0.632																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.2		NaN																	0				skin(3)|ovary(1)	4						c.(1270-1272)TTC>TTT		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						158.0	132.0	141.0					7																	150649798		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150649798G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1272C>T	7.37:g.150649798G>A						KCNH2_uc003wib.2_Silent_p.F84F|KCNH2_uc011kux.1_Silent_p.F328F|KCNH2_uc003wid.2_Silent_p.F84F|KCNH2_uc003wie.2_Silent_p.F424F	p.F424F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	1285	-	all_neural(206;0.219)		424			Helical; Name=Segment S1; (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.1272C>T	CCDS5910.1																																																																																				0.632	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2		NM_000238		17	93	0	0	0	1	0	17	93		
NOS3	4846	broad.mit.edu	37	7	150709517	150709517	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150709517C>T	ENST00000297494.3	+	24	3420	c.3063C>T	c.(3061-3063)ttC>ttT	p.F1021F	ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000461406.1_Silent_p.F815F|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGCCCCCTTCCGGGGATTCT	0.617																																						uc003wif.2		NaN																	0				central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(3061-3063)TTC>TTT		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						30.0	29.0	29.0					7																	150709517		2203	4300	6503	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150709517C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3063C>T	7.37:g.150709517C>T						NOS3_uc011kuy.1_Silent_p.F815F|ATG9B_uc003wig.3_RNA|ATG9B_uc011kvc.1_3'UTR	p.F1021F	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	24	3359	+	all_neural(206;0.219)		1021			NADP (By similarity).		Q495E5	Silent	SNP	ENST00000297494.3	37	c.3063C>T	CCDS5912.1																																																																																				0.617	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2		NM_000603		7	6	0	0	0	1	0	7	6		
INSIG1	3638	broad.mit.edu	37	7	155090019	155090019	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:155090019C>T	ENST00000340368.4	+	2	235	c.24C>T	c.(22-24)ttC>ttT	p.F8F	INSIG1_ENST00000344756.4_Silent_p.F8F|AC144652.1_ENST00000609974.1_lincRNA|INSIG1_ENST00000342407.5_Silent_p.F8F	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	8					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACGACCACTTCTGGAGCTGCT	0.642																																						uc003wly.2		NaN																	0					0						c.(22-24)TTC>TTT		insulin induced gene 1 isoform 1							8.0	9.0	9.0					7																	155090019		2168	4236	6404	SO:0001819	synonymous_variant	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155090019C>T		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.24C>T	7.37:g.155090019C>T						INSIG1_uc011kvu.1_Silent_p.F8F|INSIG1_uc003wlz.2_Silent_p.F8F	p.F8F	NM_005542	NP_005533	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	235	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	8			Cytoplasmic.		A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Silent	SNP	ENST00000340368.4	37	c.24C>T	CCDS5938.1																																																																																				0.642	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3		NM_198336		5	11	0	0	0	1	0	5	11		
WDR60	55112	broad.mit.edu	37	7	158663899	158663899	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:158663899G>A	ENST00000407559.3	+	3	294	c.136G>A	c.(136-138)Gag>Aag	p.E46K		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	46					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TAAGGAGTCTGAGATGGACCT	0.547																																						uc003woe.3		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(136-138)GAG>AAG		WD repeat domain 60							59.0	66.0	63.0					7																	158663899		2049	4187	6236	SO:0001583	missense	55112							g.chr7:158663899G>A		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.136G>A	7.37:g.158663899G>A	ENSP00000384290:p.Glu46Lys						p.E46K	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	3	294	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	46					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.136G>A	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860831	0.51482	.	.	ENSG00000126870	ENST00000407559;ENST00000397143	T;T	0.50548	1.59;0.74	5.0	5.0	0.66597	.	0.508110	0.20380	N	0.093471	T	0.44008	0.1273	L	0.45581	1.43	0.09310	N	0.999992	P	0.46784	0.884	B	0.41466	0.358	T	0.47368	-0.9123	10	0.59425	D	0.04	-25.931	14.1873	0.65614	0.0:0.0:1.0:0.0	.	46	Q8WVS4	WDR60_HUMAN	K	46;56	ENSP00000384290:E46K;ENSP00000380330:E56K	ENSP00000380330:E56K	E	+	1	0	WDR60	158356660	0.391000	0.25221	0.045000	0.18777	0.003000	0.03518	2.950000	0.49081	2.482000	0.83794	0.655000	0.94253	GAG		0.547	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1		NM_018051		8	18	0	0	0	1	0	8	18		
DLC1	10395	broad.mit.edu	37	8	12946138	12946138	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:12946138G>A	ENST00000276297.4	-	16	4559	c.4150C>T	c.(4150-4152)Cgc>Tgc	p.R1384C	DLC1_ENST00000512044.2_Missense_Mutation_p.R981C|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.R873C|DLC1_ENST00000358919.2_Missense_Mutation_p.R947C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1384	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTAAGTAGGCGCTTTAAGATT	0.453																																						uc003wwm.2		NaN																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(4150-4152)CGC>TGC		deleted in liver cancer 1 isoform 1							131.0	136.0	135.0					8																	12946138		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12946138G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4150C>T	8.37:g.12946138G>A	ENSP00000276297:p.Arg1384Cys					DLC1_uc003wwk.1_Missense_Mutation_p.R947C|DLC1_uc003wwl.1_Missense_Mutation_p.R981C|DLC1_uc011kxx.1_Missense_Mutation_p.R873C	p.R1384C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			16	4594	-			1384			START.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.4150C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735184	0.89482	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.05	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.993	D	0.90999	0.4841	10	0.87932	D	0	.	15.6902	0.77446	0.0:0.0:0.863:0.137	.	1384;981;947	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	1384;947;323;981;873	ENSP00000276297:R1384C;ENSP00000351797:R947C;ENSP00000422595:R981C;ENSP00000428028:R873C	ENSP00000276297:R1384C	R	-	1	0	DLC1	12990509	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.562000	0.82300	2.793000	0.96121	0.655000	0.94253	CGC		0.453	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2		NM_182643, NM_006094		25	71	0	0	0	1	0	25	71		
LZTS1	11178	broad.mit.edu	37	8	20110394	20110394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:20110394C>A	ENST00000381569.1	-	3	1405	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*	LZTS1_ENST00000522290.1_Nonsense_Mutation_p.E350*|LZTS1_ENST00000265801.6_Nonsense_Mutation_p.E350*			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	350					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATGAGGCTCTCGAGCTCCTGC	0.652																																						uc003wzr.2		NaN																	0				ovary(1)	1						c.(1048-1050)GAG>TAG		leucine zipper, putative tumor suppressor 1							19.0	21.0	20.0					8																	20110394		2202	4300	6502	SO:0001587	stop_gained	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110394C>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1048G>T	8.37:g.20110394C>A	ENSP00000370981:p.Glu350*					LZTS1_uc010ltg.1_Nonsense_Mutation_p.E350*	p.E350*	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	1159	-			350			Potential.		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Nonsense_Mutation	SNP	ENST00000381569.1	37	c.1048G>T	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337338	0.95758	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	.	.	.	5.45	4.52	0.55395	.	0.258185	0.40469	N	0.001099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-50.3177	14.4186	0.67168	0.0:0.8517:0.1483:0.0	.	.	.	.	X	350	.	ENSP00000265801:E350X	E	-	1	0	LZTS1	20154674	0.436000	0.25586	0.985000	0.45067	0.976000	0.68499	2.077000	0.41557	2.557000	0.86248	0.561000	0.74099	GAG		0.652	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1		NM_021020		9	20	1	0	0.0477658	1	0.0481479	9	20		
DMTN	2039	broad.mit.edu	37	8	21927731	21927731	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:21927731G>A	ENST00000523266.1	+	8	952	c.490G>A	c.(490-492)Gag>Aag	p.E164K	DMTN_ENST00000381470.3_Missense_Mutation_p.E164K|DMTN_ENST00000265800.5_Missense_Mutation_p.E164K|DMTN_ENST00000519907.1_Missense_Mutation_p.E164K|DMTN_ENST00000523782.2_Missense_Mutation_p.E139K|DMTN_ENST00000432128.1_Missense_Mutation_p.E164K|DMTN_ENST00000443491.2_Missense_Mutation_p.E139K|DMTN_ENST00000517600.1_Missense_Mutation_p.E124K|DMTN_ENST00000415253.1_Missense_Mutation_p.E164K|DMTN_ENST00000358242.3_Missense_Mutation_p.E164K	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	164					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										GCACCTCATCGAGGATCTCAT	0.612																																						uc011kyt.1		NaN																	0				central_nervous_system(1)	1						c.(490-492)GAG>AAG		erythrocyte membrane protein band 4.9 isoform 1							148.0	137.0	141.0					8																	21927731		2203	4300	6503	SO:0001583	missense	2039				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding	g.chr8:21927731G>A	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.490G>A	8.37:g.21927731G>A	ENSP00000427866:p.Glu164Lys					EPB49_uc010ltl.2_Missense_Mutation_p.E164K|EPB49_uc011kys.1_Missense_Mutation_p.E124K|EPB49_uc010ltn.2_Missense_Mutation_p.E139K|EPB49_uc011kyu.1_Missense_Mutation_p.E164K|EPB49_uc011kyv.1_Missense_Mutation_p.E164K|EPB49_uc010ltq.2_Missense_Mutation_p.E164K	p.E164K	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN		Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)	8	719	+			164					A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.490G>A	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304583	0.60305	.	.	ENSG00000158856	ENST00000523300;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.79	4.79	0.61399	.	0.245511	0.39687	N	0.001289	T	0.29914	0.0748	L	0.39245	1.2	0.42806	D	0.99394	P;B;B;B;B;P	0.45569	0.861;0.205;0.205;0.103;0.103;0.772	B;B;B;B;B;B	0.29353	0.101;0.015;0.015;0.015;0.01;0.089	T	0.28459	-1.0043	10	0.46703	T	0.11	.	15.6961	0.77499	0.0:0.0:1.0:0.0	.	103;124;164;139;139;164	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	K	139;164;164;139;124;124;139;139;164;164;103;164;164;164;164;164	ENSP00000429116:E139K;ENSP00000370879:E164K;ENSP00000416111:E164K;ENSP00000397904:E139K;ENSP00000430618:E124K;ENSP00000428733:E139K;ENSP00000430382:E139K;ENSP00000428415:E164K;ENSP00000265800:E164K;ENSP00000429948:E164K;ENSP00000350977:E164K;ENSP00000401291:E164K;ENSP00000427866:E164K;ENSP00000429377:E164K	ENSP00000265800:E164K	E	+	1	0	EPB49	21983677	1.000000	0.71417	0.647000	0.29507	0.985000	0.73830	6.336000	0.72954	2.367000	0.80283	0.511000	0.50034	GAG		0.612	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1		NM_001978		18	126	0	0	0	1	0	18	126		
C8orf86	389649	broad.mit.edu	37	8	38370103	38370103	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:38370103G>C	ENST00000358138.1	-	3	498	c.474C>G	c.(472-474)ctC>ctG	p.L158L	C8orf86_ENST00000437935.2_Intron	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	158										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						agacaggaaagagtttgatag	0.517																																						uc003xlx.1		NaN																	0					0						c.(472-474)CTC>CTG		hypothetical protein LOC389649							75.0	76.0	76.0					8																	38370103		2203	4300	6503	SO:0001819	synonymous_variant	389649							g.chr8:38370103G>C	BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.474C>G	8.37:g.38370103G>C							p.L158L	NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN			3	499	-			158					A4QPB7	Silent	SNP	ENST00000358138.1	37	c.474C>G	CCDS6108.1																																																																																				0.517	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1		NM_207412		9	49	0	0	0	1	0	9	49		
ZMAT4	79698	broad.mit.edu	37	8	40532405	40532405	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:40532405G>A	ENST00000297737.6	-	5	541	c.395C>T	c.(394-396)cCg>cTg	p.P132L	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	132						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TGCGACCACCGGAGCAGTGTC	0.517																																						uc003xnr.2		NaN																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(394-396)CCG>CTG		zinc finger, matrin type 4 isoform a							143.0	145.0	144.0					8																	40532405		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40532405G>A	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.395C>T	8.37:g.40532405G>A	ENSP00000297737:p.Pro132Leu					ZMAT4_uc003xns.2_Intron	p.P132L	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		5	541	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	132					Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.395C>T	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573381	0.28092	.	.	ENSG00000165061	ENST00000297737;ENST00000519406	T;T	0.42900	0.96;0.96	5.94	5.94	0.96194	.	0.218790	0.48286	D	0.000186	T	0.29321	0.0730	N	0.24115	0.695	0.80722	D	1	B	0.18968	0.032	B	0.11329	0.006	T	0.06110	-1.0845	10	0.30078	T	0.28	-23.6602	12.2759	0.54735	0.0778:0.0:0.9222:0.0	.	132	Q9H898	ZMAT4_HUMAN	L	132	ENSP00000297737:P132L;ENSP00000428423:P132L	ENSP00000297737:P132L	P	-	2	0	ZMAT4	40651562	1.000000	0.71417	0.630000	0.29268	0.612000	0.37316	8.589000	0.90817	2.817000	0.96982	0.557000	0.71058	CCG		0.517	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1		NM_024645		74	176	0	0	0	1	0	74	176		
POMK	84197	broad.mit.edu	37	8	42977680	42977680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:42977680C>T	ENST00000331373.5	+	5	968	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										AACCACAGCTCCGGGATGCTG	0.557																																						uc003xpw.2		NaN																	0					0						c.(712-714)TCC>TTC		protein kinase-like protein SgK196							57.0	46.0	50.0					8																	42977680		2203	4300	6503	SO:0001583	missense	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42977680C>T		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.713C>T	8.37:g.42977680C>T	ENSP00000331258:p.Ser238Phe						p.S238F	NM_032237	NP_115613	Q9H5K3	SG196_HUMAN			5	972	+			238			Protein kinase.			Missense_Mutation	SNP	ENST00000331373.5	37	c.713C>T	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368307	0.42003	.	.	ENSG00000185900	ENST00000331373	T	0.22743	1.94	5.29	4.37	0.52481	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.624679	0.17190	N	0.183535	T	0.21267	0.0512	L	0.44542	1.39	0.09310	N	1	P	0.39903	0.694	B	0.41813	0.367	T	0.07868	-1.0750	9	.	.	.	-9.0631	11.7807	0.52013	0.2664:0.7336:0.0:0.0	.	238	Q9H5K3	SG196_HUMAN	F	238	ENSP00000331258:S238F	.	S	+	2	0	AC113191.1	43096837	0.004000	0.15560	0.670000	0.29842	0.687000	0.40016	1.900000	0.39828	2.634000	0.89283	0.591000	0.81541	TCC		0.557	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2		NM_032237		8	33	0	0	0	1	0	8	33		
PXDNL	137902	broad.mit.edu	37	8	52321993	52321993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:52321993C>T	ENST00000356297.4	-	17	2291	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D731N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	731					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACGTGCCGTCGTGGGCGCGG	0.677																																						uc003xqu.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(2191-2193)GAC>AAC		peroxidasin homolog-like precursor							23.0	26.0	25.0					8																	52321993		2082	4195	6277	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321993C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2191G>A	8.37:g.52321993C>T	ENSP00000348645:p.Asp731Asn					PXDNL_uc003xqt.3_RNA	p.D731N	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2292	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	731					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2191G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391792	0.42410	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.75821	-0.97;-0.97	3.62	1.66	0.24008	.	.	.	.	.	D	0.85539	0.5720	M	0.86268	2.805	0.33904	D	0.638909	D	0.89917	1.0	D	0.91635	0.999	D	0.87543	0.2460	8	.	.	.	.	11.1425	0.48411	0.0:0.6396:0.3604:0.0	.	731	A1KZ92	PXDNL_HUMAN	N	731	ENSP00000348645:D731N;ENSP00000444865:D731N	.	D	-	1	0	PXDNL	52484546	1.000000	0.71417	0.001000	0.08648	0.064000	0.16182	5.044000	0.64214	0.123000	0.18342	-0.494000	0.04653	GAC		0.677	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1		NM_144651		5	24	0	0	0	1	0	5	24		
ST18	9705	broad.mit.edu	37	8	53062372	53062372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:53062372G>A	ENST00000276480.7	-	16	2655	c.1972C>T	c.(1972-1974)Cag>Tag	p.Q658*	RP11-26M5.3_ENST00000520496.1_RNA	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	658					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAAAGAGCCTGATAGAATGCT	0.458																																						uc003xqz.2		NaN																	0				ovary(4)|skin(1)	5						c.(1972-1974)CAG>TAG		suppression of tumorigenicity 18							127.0	119.0	121.0					8																	53062372		2203	4300	6503	SO:0001587	stop_gained	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53062372G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1972C>T	8.37:g.53062372G>A	ENSP00000276480:p.Gln658*					ST18_uc011ldq.1_Nonsense_Mutation_p.Q305*|ST18_uc011ldr.1_Nonsense_Mutation_p.Q623*|ST18_uc011lds.1_Nonsense_Mutation_p.Q563*|ST18_uc003xra.2_Nonsense_Mutation_p.Q658*|ST18_uc003xrb.2_Nonsense_Mutation_p.Q658*	p.Q658*	NM_014682	NP_055497	O60284	ST18_HUMAN			11	2128	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	658					Q17RY1	Nonsense_Mutation	SNP	ENST00000276480.7	37	c.1972C>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	44	10.625370	0.99440	.	.	ENSG00000147488	ENST00000276480	.	.	.	5.53	5.53	0.82687	.	0.054587	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-17.7227	14.3212	0.66487	0.0:0.0:0.8516:0.1484	.	.	.	.	X	658	.	ENSP00000276480:Q658X	Q	-	1	0	ST18	53224925	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	3.117000	0.50407	2.612000	0.88384	0.460000	0.39030	CAG		0.458	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1				12	56	0	0	0	1	0	12	56		
ZFHX4	79776	broad.mit.edu	37	8	77618762	77618762	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:77618762C>G	ENST00000521891.2	+	2	2887	c.2439C>G	c.(2437-2439)ctC>ctG	p.L813L	ZFHX4_ENST00000518282.1_Silent_p.L813L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.L813L|ZFHX4_ENST00000455469.2_Silent_p.L813L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	813					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGGGCCTCGCCCCGGCGG	0.507										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2437-2439)CTC>CTG		zinc finger homeodomain 4							23.0	23.0	23.0					8																	77618762		2032	4199	6231	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618762C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2439C>G	8.37:g.77618762C>G		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.L813L|ZFHX4_uc003yau.1_Silent_p.L813L|ZFHX4_uc003yaw.1_Silent_p.L813L	p.L813L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2826	+			813					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.2439C>G	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		3	17	0	0	0	1	0	3	17		
ZFHX4	79776	broad.mit.edu	37	8	77620217	77620217	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:77620217C>G	ENST00000521891.2	+	3	3475	c.3027C>G	c.(3025-3027)aaC>aaG	p.N1009K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.N983K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N983K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N983K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	983					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTACACCAACAGTGTGGATA	0.473										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2947-2949)AAC>AAG		zinc finger homeodomain 4							104.0	104.0	104.0					8																	77620217		2034	4182	6216	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77620217C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3027C>G	8.37:g.77620217C>G	ENSP00000430497:p.Asn1009Lys	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.N983K|ZFHX4_uc003yau.1_Missense_Mutation_p.N1009K|ZFHX4_uc003yaw.1_Missense_Mutation_p.N983K	p.N983K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		3	3336	+			983			C2H2-type 6.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2949C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933820	0.52866	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.17	4.29	0.51040	Zinc finger, C2H2-like (1);	0.000000	0.48767	U	0.000179	T	0.71443	0.3340	M	0.86420	2.815	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;1.0;0.729	D;D;D;B	0.85130	0.994;0.997;0.997;0.343	T	0.76836	-0.2812	10	0.59425	D	0.04	.	13.6762	0.62456	0.0:0.9259:0.0:0.0741	.	983;983;1009;983	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	K	1009;1009;983;983;983	ENSP00000430497:N1009K;ENSP00000399605:N983K;ENSP00000050961:N983K;ENSP00000430848:N983K	ENSP00000050961:N983K	N	+	3	2	ZFHX4	77782772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.688000	0.54699	1.402000	0.46780	0.650000	0.86243	AAC		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		20	103	0	0	0	1	0	20	103		
LRRCC1	85444	broad.mit.edu	37	8	86035736	86035736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:86035736G>A	ENST00000360375.3	+	7	1168	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	LRRCC1_ENST00000414626.2_Missense_Mutation_p.R320K	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	340					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R340I(1)|p.R320I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TATGGAAACAGAAAAGAATGC	0.318																																						uc003ycw.2		NaN																	2	Substitution - Missense(2)		large_intestine(2)		0						c.(1018-1020)AGA>AAA		sodium channel associated protein 2 isoform a							83.0	82.0	82.0					8																	86035736		1809	4072	5881	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86035736G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1019G>A	8.37:g.86035736G>A	ENSP00000353538:p.Arg340Lys					LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Missense_Mutation_p.R41K|LRRCC1_uc003ycx.2_Missense_Mutation_p.R247K|LRRCC1_uc003ycy.2_Missense_Mutation_p.R320K	p.R340K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			7	1173	+			340					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1019G>A	CCDS43750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.905|5.905	0.351008|0.351008	0.11182|0.11182	.|.	.|.	ENSG00000133739|ENSG00000133739	ENST00000360375;ENST00000414626|ENST00000426019	T;T|.	0.29142|.	1.58;1.58|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.165663|.	0.28983|.	N|.	0.013506|.	T|T	0.41880|0.41880	0.1178|0.1178	L|L	0.60455|0.60455	1.87|1.87	0.24403|0.24403	N|N	0.994692|0.994692	B;B;B;B|.	0.33637|.	0.2;0.062;0.42;0.036|.	B;B;B;B|.	0.25506|.	0.061;0.046;0.061;0.01|.	T|T	0.33675|0.33675	-0.9859|-0.9859	10|6	0.08599|0.15066	T|T	0.76|0.55	-17.636|-17.636	8.0298|8.0298	0.30459|0.30459	0.121:0.1454:0.7336:0.0|0.121:0.1454:0.7336:0.0	.|.	247;320;247;340|.	B4DV06;Q9C099-2;E9PE41;Q9C099|.	.;.;.;LRCC1_HUMAN|.	K|N	340;320|247	ENSP00000353538:R340K;ENSP00000394695:R320K|.	ENSP00000353538:R340K|ENSP00000400370:S247N	R|S	+|+	2|2	0|0	LRRCC1|LRRCC1	86222988|86222988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.396000|1.396000	0.34531|0.34531	2.588000|2.588000	0.87417|0.87417	0.650000|0.650000	0.86243|0.86243	AGA|AGT		0.318	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1		NM_033402		24	193	0	0	0	1	0	24	193		
DECR1	1666	broad.mit.edu	37	8	91055005	91055005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:91055005C>T	ENST00000220764.2	+	7	803	c.715C>T	c.(715-717)Caa>Taa	p.Q239*	DECR1_ENST00000522161.1_Nonsense_Mutation_p.Q230*	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	239					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CAATGTGATTCAACCAGGGCC	0.308																																						uc003yek.1		NaN																	0					0						c.(715-717)CAA>TAA		2,4-dienoyl CoA reductase 1 precursor							197.0	191.0	193.0					8																	91055005		2203	4300	6503	SO:0001587	stop_gained	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91055005C>T	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.715C>T	8.37:g.91055005C>T	ENSP00000220764:p.Gln239*					DECR1_uc011lgc.1_Nonsense_Mutation_p.Q230*|DECR1_uc011lgd.1_RNA	p.Q239*	NM_001359	NP_001350	Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		7	856	+			239					B7Z6B8|Q2M304|Q93085	Nonsense_Mutation	SNP	ENST00000220764.2	37	c.715C>T	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696490	0.88830	.	.	ENSG00000104325	ENST00000220764;ENST00000522161	.	.	.	5.24	5.24	0.73138	.	0.109676	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1742	0.93597	0.0:1.0:0.0:0.0	.	.	.	.	X	239;230	.	ENSP00000220764:Q239X	Q	+	1	0	DECR1	91124181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.366000	0.79548	2.611000	0.88343	0.650000	0.86243	CAA		0.308	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1				18	175	0	0	0	1	0	18	175		
DPY19L4	286148	broad.mit.edu	37	8	95782795	95782795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:95782795G>C	ENST00000414645.2	+	13	1549	c.1450G>C	c.(1450-1452)Gaa>Caa	p.E484Q		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	484						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AATGGTTATAGAAGGGTAAGT	0.393																																						uc003ygx.2		NaN																	0				ovary(2)	2						c.(1450-1452)GAA>CAA		dpy-19-like 4							102.0	111.0	108.0					8																	95782795		2203	4300	6503	SO:0001583	missense	286148					integral to membrane		g.chr8:95782795G>C		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1450G>C	8.37:g.95782795G>C	ENSP00000389630:p.Glu484Gln						p.E484Q	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			13	1574	+	Breast(36;3.85e-06)		484			Helical; (Potential).		Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.1450G>C	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615876	0.87359	.	.	ENSG00000156162	ENST00000414645	T	0.55234	0.53	5.65	5.65	0.86999	.	0.155066	0.56097	D	0.000027	T	0.63581	0.2523	L	0.54323	1.7	0.58432	D	0.999997	D	0.53312	0.959	P	0.55749	0.783	T	0.56007	-0.8050	10	0.23891	T	0.37	-18.0761	19.7343	0.96195	0.0:0.0:1.0:0.0	.	484	Q7Z388	D19L4_HUMAN	Q	484	ENSP00000389630:E484Q	ENSP00000389630:E484Q	E	+	1	0	DPY19L4	95851971	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.041000	0.76558	2.660000	0.90430	0.467000	0.42956	GAA		0.393	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1		NM_181787		14	62	0	0	0	1	0	14	62		
CCNE2	9134	broad.mit.edu	37	8	95902660	95902660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:95902660G>C	ENST00000520509.1	-	6	688	c.436C>G	c.(436-438)Cta>Gta	p.L146V	CCNE2_ENST00000396133.3_Missense_Mutation_p.L146V|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.L146V			O96020	CCNE2_HUMAN	cyclin E2	146					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					AGCCAGTCTAGAAGTATGGAC	0.363																																						uc003yhc.2		NaN																	0					0						c.(436-438)CTA>GTA		cyclin E2							220.0	222.0	221.0					8																	95902660		2203	4300	6503	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95902660G>C	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.436C>G	8.37:g.95902660G>C	ENSP00000429089:p.Leu146Val					CCNE2_uc003yhd.2_Missense_Mutation_p.L146V	p.L146V	NM_057749	NP_477097	O96020	CCNE2_HUMAN			6	545	-	Breast(36;8.75e-07)		146					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.436C>G	CCDS6264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.956032|3.956032	0.73902|0.73902	.|.	.|.	ENSG00000175305|ENSG00000175305	ENST00000524224|ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	.|T;T;T	.|0.10288	.|2.89;2.89;2.89	5.69|5.69	4.81|4.81	0.61882|0.61882	.|Cyclin, N-terminal (2);Cyclin-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15176|0.15176	0.0366|0.0366	N|N	0.20328|0.20328	0.56|0.56	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.992;0.999	.|D;D	.|0.83275	.|0.927;0.996	T|T	0.10064|0.10064	-1.0646|-1.0646	5|10	.|0.07175	.|T	.|0.84	.|.	11.8874|11.8874	0.52610|0.52610	0.1469:0.0:0.8531:0.0|0.1469:0.0:0.8531:0.0	.|.	.|146;146	.|Q8WUE3;O96020	.|.;CCNE2_HUMAN	L|V	9|146;146;38;146	.|ENSP00000429089:L146V;ENSP00000309181:L146V;ENSP00000379437:L146V	.|ENSP00000309181:L146V	F|L	-|-	3|1	2|2	CCNE2|CCNE2	95971836|95971836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.368000|3.368000	0.52357|0.52357	1.373000|1.373000	0.46208|0.46208	0.591000|0.591000	0.81541|0.81541	TTC|CTA		0.363	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1		NM_057749, NM_004702		78	143	0	0	0	1	0	78	143		
KCNS2	3788	broad.mit.edu	37	8	99440523	99440523	+	Missense_Mutation	SNP	G	G	A	rs373045610		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:99440523G>A	ENST00000287042.4	+	2	666	c.316G>A	c.(316-318)Gag>Aag	p.E106K	KCNS2_ENST00000521839.1_Missense_Mutation_p.E106K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	106					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCAGGAGATCGAGTACTGGGG	0.557																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2		NaN																	0				ovary(1)	1						c.(316-318)GAG>AAG		potassium voltage-gated channel,		G	LYS/GLU	0,4406		0,0,2203	118.0	107.0	111.0		316	5.4	1.0	8		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNS2	NM_020697.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	106/478	99440523	1,13005	2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440523G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.316G>A	8.37:g.99440523G>A	ENSP00000287042:p.Glu106Lys						p.E106K	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	666	+	Breast(36;2.4e-06)		106			Cytoplasmic (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.316G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745273	0.89663	0.0	1.16E-4	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.77098	-1.07;-1.07	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	L	0.55103	1.725	0.58432	D	0.999995	D	0.71674	0.998	P	0.52454	0.699	T	0.79179	-0.1910	10	0.30854	T	0.27	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	106	Q9ULS6	KCNS2_HUMAN	K	106	ENSP00000287042:E106K;ENSP00000430712:E106K	ENSP00000287042:E106K	E	+	1	0	KCNS2	99509699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.527000	0.85204	0.563000	0.77884	GAG		0.557	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1		NM_020697		48	221	0	0	0	1	0	48	221		
VPS13B	157680	broad.mit.edu	37	8	100874104	100874104	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:100874104G>T	ENST00000358544.2	+	58	11331	c.11220G>T	c.(11218-11220)cgG>cgT	p.R3740R	VPS13B_ENST00000357162.2_Silent_p.R3715R|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3740					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGAGTGGCGGCGGCAGCTCC	0.672																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(11218-11220)CGG>CGT		vacuolar protein sorting 13B isoform 5							28.0	22.0	24.0					8																	100874104		2190	4293	6483	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100874104G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11220G>T	8.37:g.100874104G>T						VPS13B_uc003yiw.2_Silent_p.R3715R	p.R3740R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		58	11331	+	Breast(36;3.73e-07)		3740					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.11220G>T	CCDS6280.1																																																																																				0.672	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		11	27	1	0	3.07112e-06	1	3.24359e-06	11	27		
SNX31	169166	broad.mit.edu	37	8	101586104	101586104	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:101586104C>T	ENST00000311812.2	-	14	1462	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	SNX31_ENST00000428383.2_Missense_Mutation_p.E339K	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	438					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CAGAGATCTTCTTCCTTTATG	0.373																																						uc003yjr.2		NaN																	0					0						c.(1312-1314)GAA>AAA		sorting nexin 31							121.0	120.0	120.0					8																	101586104		2202	4298	6500	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101586104C>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1312G>A	8.37:g.101586104C>T	ENSP00000312368:p.Glu438Lys					SNX31_uc011lha.1_Missense_Mutation_p.E233K|SNX31_uc011lhb.1_Missense_Mutation_p.E339K	p.E438K	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		14	1463	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		438					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.1312G>A	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892406	0.72524	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.25579	2.17;1.79	5.51	5.51	0.81932	.	0.376195	0.22869	N	0.054642	T	0.43964	0.1271	L	0.44542	1.39	0.37948	D	0.932565	D;P	0.76494	0.999;0.455	D;B	0.83275	0.996;0.142	T	0.35375	-0.9791	10	0.54805	T	0.06	-20.9506	15.275	0.73734	0.0:1.0:0.0:0.0	.	339;438	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	K	438;339	ENSP00000312368:E438K;ENSP00000405024:E339K	ENSP00000312368:E438K	E	-	1	0	SNX31	101655280	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.818000	0.55678	2.752000	0.94435	0.557000	0.71058	GAA		0.373	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1		NM_152628		27	229	0	0	0	1	0	27	229		
SNX31	169166	broad.mit.edu	37	8	101586144	101586144	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:101586144C>G	ENST00000311812.2	-	14	1422	c.1272G>C	c.(1270-1272)aaG>aaC	p.K424N	SNX31_ENST00000428383.2_Missense_Mutation_p.K325N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	424					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTTTAGCTATCTTAATCTTGC	0.338																																						uc003yjr.2		NaN																	0					0						c.(1270-1272)AAG>AAC		sorting nexin 31							121.0	120.0	120.0					8																	101586144		2202	4298	6500	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101586144C>G		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1272G>C	8.37:g.101586144C>G	ENSP00000312368:p.Lys424Asn					SNX31_uc011lha.1_Missense_Mutation_p.K219N|SNX31_uc011lhb.1_Missense_Mutation_p.K325N	p.K424N	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		14	1423	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		424					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.1272G>C	CCDS6288.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.79|10.79	1.449159|1.449159	0.26074|0.26074	.|.	.|.	ENSG00000174226|ENSG00000174226	ENST00000311812;ENST00000428383|ENST00000518342	T;T|.	0.27256|.	2.08;1.68|.	5.51|5.51	0.261|0.261	0.15592|0.15592	.|.	0.317119|.	0.24825|.	N|.	0.035291|.	T|T	0.35653|0.35653	0.0939|0.0939	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.09377|.	0.004;0.002|.	T|T	0.29671|0.29671	-1.0004|-1.0004	10|5	0.54805|.	T|.	0.06|.	-4.328|-4.328	5.0219|5.0219	0.14365|0.14365	0.0:0.3779:0.3617:0.2605|0.0:0.3779:0.3617:0.2605	.|.	325;424|.	Q8N9S9-2;Q8N9S9|.	.;SNX31_HUMAN|.	N|T	424;325|32	ENSP00000312368:K424N;ENSP00000405024:K325N|.	ENSP00000312368:K424N|.	K|R	-|-	3|2	2|0	SNX31|SNX31	101655320|101655320	0.003000|0.003000	0.15002|0.15002	0.025000|0.025000	0.17156|0.17156	0.847000|0.847000	0.48162|0.48162	-0.346000|-0.346000	0.07760|0.07760	0.035000|0.035000	0.15519|0.15519	0.557000|0.557000	0.71058|0.71058	AAG|AGA		0.338	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1		NM_152628		15	250	0	0	0	1	0	15	250		
UBR5	51366	broad.mit.edu	37	8	103341574	103341574	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:103341574G>A	ENST00000520539.1	-	10	1758	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	UBR5_ENST00000521922.1_Silent_p.V378V|UBR5_ENST00000220959.4_Silent_p.V384V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	384					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTACTGCTGACAGCCAGAA	0.333																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NaN																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(1150-1152)GTC>GTT		ubiquitin protein ligase E3 component n-recognin							114.0	124.0	121.0					8																	103341574		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103341574G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1152C>T	8.37:g.103341574G>A						UBR5_uc003yks.1_Silent_p.V384V	p.V384V	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		10	1185	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		384					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.1152C>T	CCDS34933.1																																																																																				0.333	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		62	692	0	0	0	1	0	62	692		
DCSTAMP	81501	broad.mit.edu	37	8	105361098	105361098	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:105361098C>A	ENST00000297581.2	+	2	367	c.318C>A	c.(316-318)gtC>gtA	p.V106V	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Silent_p.V106V	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	106					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CAGGGATCGTCATCTTGGGAC	0.438																																						uc003ylx.1		NaN																	0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(316-318)GTC>GTA		dendritic cell-specific transmembrane protein							64.0	64.0	64.0					8																	105361098		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361098C>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.318C>A	8.37:g.105361098C>A							p.V106V	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	367	+			106			Helical; (Potential).		B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.318C>A	CCDS6301.1																																																																																				0.438	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1		NM_030788		17	193	1	0	1.45105e-14	1	1.64714e-14	17	193		
DCSTAMP	81501	broad.mit.edu	37	8	105361151	105361151	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:105361151G>A	ENST00000297581.2	+	2	420	c.371G>A	c.(370-372)gGt>gAt	p.G124D	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.G124D	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	124					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CTCCTAGATGGTATGACTTGC	0.418																																						uc003ylx.1		NaN																	0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(370-372)GGT>GAT		dendritic cell-specific transmembrane protein							76.0	81.0	79.0					8																	105361151		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361151G>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.371G>A	8.37:g.105361151G>A	ENSP00000297581:p.Gly124Asp						p.G124D	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	420	+			124					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.371G>A	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647718	0.67358	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.32023	1.47	5.84	5.84	0.93424	.	0.122857	0.85682	D	0.000000	T	0.27063	0.0663	L	0.34521	1.04	0.41322	D	0.987186	B	0.18741	0.03	B	0.21151	0.033	T	0.04509	-1.0946	9	.	.	.	-7.9417	18.3185	0.90229	0.0:0.0:1.0:0.0	.	124	Q9H295	TM7S4_HUMAN	D	124	ENSP00000297581:G124D	.	G	+	2	0	TM7SF4	105430327	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.156000	0.89645	2.779000	0.95612	0.655000	0.94253	GGT		0.418	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1		NM_030788		28	230	0	0	0	1	0	28	230		
PKHD1L1	93035	broad.mit.edu	37	8	110456939	110456939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:110456939C>T	ENST00000378402.5	+	38	4945	c.4841C>T	c.(4840-4842)tCa>tTa	p.S1614L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1614	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGAGGATTCAATTACATGT	0.383										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4840-4842)TCA>TTA		fibrocystin L precursor							204.0	202.0	203.0					8																	110456939		1887	4097	5984	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110456939C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4841C>T	8.37:g.110456939C>T	ENSP00000367655:p.Ser1614Leu	HNSCC(38;0.096)					p.S1614L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	4945	+			1614			Extracellular (Potential).|IPT/TIG 8.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4841C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191205	0.21954	.	.	ENSG00000205038	ENST00000378402	T	0.77620	-1.11	5.73	3.9	0.45041	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.510081	0.20083	N	0.099607	T	0.71668	0.3367	L	0.55103	1.725	0.21984	N	0.999432	B	0.15719	0.014	B	0.22152	0.038	T	0.61019	-0.7147	10	0.34782	T	0.22	.	10.2761	0.43510	0.0:0.7716:0.1492:0.0792	.	1614	Q86WI1	PKHL1_HUMAN	L	1614	ENSP00000367655:S1614L	ENSP00000367655:S1614L	S	+	2	0	PKHD1L1	110526115	0.836000	0.29430	0.884000	0.34674	0.253000	0.25986	1.064000	0.30579	1.538000	0.49270	0.655000	0.94253	TCA		0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		38	237	0	0	0	1	0	38	237		
PKHD1L1	93035	broad.mit.edu	37	8	110492237	110492237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:110492237G>A	ENST00000378402.5	+	55	9300	c.9196G>A	c.(9196-9198)Gac>Aac	p.D3066N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3066	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTGTAGCTGACATAGATAT	0.338										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9196-9198)GAC>AAC		fibrocystin L precursor							49.0	51.0	51.0					8																	110492237		1835	4080	5915	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110492237G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9196G>A	8.37:g.110492237G>A	ENSP00000367655:p.Asp3066Asn	HNSCC(38;0.096)					p.D3066N	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		55	9300	+			3066			Extracellular (Potential).|G8 2.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9196G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651796	0.88056	.	.	ENSG00000205038	ENST00000378402	D	0.91521	-2.86	5.01	5.01	0.66863	G8 domain (2);	0.125558	0.52532	D	0.000077	D	0.95629	0.8579	M	0.90542	3.125	0.39193	D	0.962995	P	0.51240	0.943	P	0.62298	0.9	D	0.96312	0.9229	10	0.48119	T	0.1	.	16.1873	0.81962	0.0:0.0:1.0:0.0	.	3066	Q86WI1	PKHL1_HUMAN	N	3066	ENSP00000367655:D3066N	ENSP00000367655:D3066N	D	+	1	0	PKHD1L1	110561413	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.660000	0.74417	2.488000	0.83962	0.650000	0.86243	GAC		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		5	13	0	0	0	1	0	5	13		
COL14A1	7373	broad.mit.edu	37	8	121259858	121259858	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:121259858C>T	ENST00000297848.3	+	21	2756	c.2486C>T	c.(2485-2487)tCc>tTc	p.S829F	COL14A1_ENST00000247781.3_Missense_Mutation_p.S734F|COL14A1_ENST00000309791.4_Missense_Mutation_p.S829F|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAGTACCATCCTCGGGGCCC	0.473																																						uc003yox.2		NaN																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2485-2487)TCC>TTC		collagen, type XIV, alpha 1 precursor							56.0	52.0	53.0					8																	121259858		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121259858C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2486C>T	8.37:g.121259858C>T	ENSP00000297848:p.Ser829Phe					COL14A1_uc003yoy.2_Missense_Mutation_p.S507F	p.S829F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		21	2751	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		829			Fibronectin type-III 7.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2486C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	6.719	0.501375	0.12822	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.2	2.71	0.32032	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.633406	0.16380	N	0.216931	T	0.31670	0.0804	N	0.17474	0.49	0.31315	N	0.686719	B;B	0.29805	0.191;0.257	B;B	0.25291	0.059;0.033	T	0.31308	-0.9948	10	0.59425	D	0.04	.	5.9489	0.19234	0.0:0.4828:0.0:0.5172	.	829;829	Q05707-2;Q05707	.;COEA1_HUMAN	F	829;829;734;642	ENSP00000311809:S829F;ENSP00000297848:S829F;ENSP00000247781:S734F;ENSP00000409461:S642F	ENSP00000247781:S734F	S	+	2	0	COL14A1	121329039	0.084000	0.21492	0.002000	0.10522	0.004000	0.04260	3.013000	0.49582	0.547000	0.28938	0.563000	0.77884	TCC		0.473	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		NM_021110		9	86	0	0	0	1	0	9	86		
TBC1D31	93594	broad.mit.edu	37	8	124153062	124153062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:124153062G>A	ENST00000287380.1	+	18	2651	c.2561G>A	c.(2560-2562)aGa>aAa	p.R854K	TBC1D31_ENST00000521676.1_Missense_Mutation_p.R731K|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R854K|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R823K|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R749K|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R408K|TBC1D31_ENST00000378080.2_3'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	854						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GATGCCTATAGACGAAAAGTG	0.338																																						uc003ypp.1		NaN																	0				skin(1)	1						c.(2560-2562)AGA>AAA		WD repeat domain 67 isoform 1							91.0	95.0	94.0					8																	124153062		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124153062G>A	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2561G>A	8.37:g.124153062G>A	ENSP00000287380:p.Arg854Lys					WDR67_uc011lig.1_Missense_Mutation_p.R823K|WDR67_uc011lih.1_Missense_Mutation_p.R744K|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R488K|WDR67_uc003ypt.1_Missense_Mutation_p.R311K|WDR67_uc003ypu.1_Missense_Mutation_p.R311K	p.R854K	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		18	2651	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		854			Potential.		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.2561G>A	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	4.414	0.076509	0.08485	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	D;T;T;D;D;T	0.85258	-1.96;-0.27;-0.71;-1.96;-1.96;1.03	5.76	2.98	0.34508	.	0.178270	0.47455	D	0.000240	T	0.75162	0.3812	L	0.32530	0.975	0.58432	D	0.999995	B;B;B;B	0.22983	0.036;0.078;0.007;0.021	B;B;B;B	0.23419	0.012;0.046;0.006;0.008	T	0.67063	-0.5765	10	0.36615	T	0.2	-12.4501	7.5545	0.27817	0.1975:0.1274:0.6752:0.0	.	823;854;749;854	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	K	854;854;823;749;731;408	ENSP00000287380:R854K;ENSP00000308358:R854K;ENSP00000312701:R823K;ENSP00000429334:R749K;ENSP00000430628:R731K;ENSP00000429494:R408K	ENSP00000287380:R854K	R	+	2	0	WDR67	124222243	0.996000	0.38824	0.359000	0.25824	0.009000	0.06853	1.543000	0.36147	0.765000	0.33221	0.591000	0.81541	AGA		0.338	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1		NM_145647		20	101	0	0	0	1	0	20	101		
FBXO32	114907	broad.mit.edu	37	8	124516888	124516888	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:124516888C>G	ENST00000517956.1	-	8	1125	c.934G>C	c.(934-936)Gat>Cat	p.D312H	FBXO32_ENST00000443022.2_Missense_Mutation_p.D219H	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	312					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGAAGGGTATCTCCATACTGC	0.498																																						uc003yqr.2		NaN																	0				skin(3)|breast(2)|lung(1)	6						c.(934-936)GAT>CAT		F-box only protein 32 isoform 1							161.0	129.0	140.0					8																	124516888		2203	4300	6503	SO:0001583	missense	114907							g.chr8:124516888C>G	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.934G>C	8.37:g.124516888C>G	ENSP00000428205:p.Asp312His					FBXO32_uc003yqq.2_Missense_Mutation_p.D167H|FBXO32_uc010mdk.2_Missense_Mutation_p.D219H	p.D312H	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		8	1126	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		312					A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	c.934G>C	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244274	0.79912	.	.	ENSG00000156804	ENST00000517956;ENST00000443022	T;T	0.24350	1.86;1.86	5.29	5.29	0.74685	F-box domain, Skp2-like (1);	0.131439	0.64402	D	0.000002	T	0.48333	0.1494	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.89917	1.0;0.994	D;D	0.79784	0.993;0.935	T	0.46076	-0.9217	10	0.87932	D	0	0.0093	14.8603	0.70376	0.0:0.8566:0.1434:0.0	.	219;312	A4KYM0;Q969P5	.;FBX32_HUMAN	H	312;219	ENSP00000428205:D312H;ENSP00000390790:D219H	ENSP00000390790:D219H	D	-	1	0	FBXO32	124586069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.966000	0.70395	2.631000	0.89168	0.561000	0.74099	GAT		0.498	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1				9	48	0	0	0	1	0	9	48		
ZC3H3	23144	broad.mit.edu	37	8	144620768	144620768	+	Missense_Mutation	SNP	G	G	C	rs566613895		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144620768G>C	ENST00000262577.5	-	2	800	c.769C>G	c.(769-771)Cca>Gca	p.P257A		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	257					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGGAGCTGTGGAGCACAGCTG	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15399	0.0		0.0	False		,,,				2504	0.0					uc003yyd.2		NaN																	0				skin(1)	1						c.(769-771)CCA>GCA		zinc finger CCCH-type containing 3							29.0	31.0	30.0					8																	144620768		2202	4294	6496	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620768G>C	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.769C>G	8.37:g.144620768G>C	ENSP00000262577:p.Pro257Ala						p.P257A	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	798	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		257					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.769C>G	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.959700	0.00049	.	.	ENSG00000014164	ENST00000262577	T	0.02395	4.31	5.23	-8.14	0.01069	.	1.393200	0.04575	N	0.393961	T	0.01189	0.0039	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48399	-0.9039	10	0.25751	T	0.34	1.3685	4.1145	0.10074	0.1313:0.1188:0.1884:0.5615	.	257	Q8IXZ2	ZC3H3_HUMAN	A	257	ENSP00000262577:P257A	ENSP00000262577:P257A	P	-	1	0	ZC3H3	144691911	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.097000	0.00606	-1.416000	0.02019	-1.749000	0.00680	CCA		0.667	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2		NM_015117		17	51	0	0	0	1	0	17	51		
FAM83H	286077	broad.mit.edu	37	8	144810168	144810168	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144810168T>C	ENST00000388913.3	-	5	1588	c.1463A>G	c.(1462-1464)gAc>gGc	p.D488G		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	488					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGGTGAAGTCATCCGGGTC	0.746																																						uc003yzk.2		NaN																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(1462-1464)GAC>GGC		FAM83H							8.0	12.0	11.0					8																	144810168		1816	4014	5830	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810168T>C	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1463A>G	8.37:g.144810168T>C	ENSP00000373565:p.Asp488Gly					FAM83H_uc010mfk.1_RNA	p.D488G	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	1532	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		488					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.1463A>G	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	N	10.84	1.464448	0.26335	.	.	ENSG00000180921	ENST00000388913	T	0.18016	2.24	4.45	3.28	0.37604	.	0.769353	0.11129	U	0.596582	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.27971	-1.0058	10	0.62326	D	0.03	.	9.0621	0.36440	0.0:0.0889:0.0:0.9111	.	488	Q6ZRV2	FA83H_HUMAN	G	488	ENSP00000373565:D488G	ENSP00000373565:D488G	D	-	2	0	FAM83H	144882156	0.667000	0.27484	0.083000	0.20561	0.172000	0.22775	1.573000	0.36472	0.567000	0.29293	0.374000	0.22700	GAC		0.746	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2		NM_198488		4	7	0	0	0	1	0	4	7		
SCRIB	23513	broad.mit.edu	37	8	144897387	144897387	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144897387G>A	ENST00000320476.3	-	1	162	c.156C>T	c.(154-156)ccC>ccT	p.P52P	PUF60_ENST00000524570.1_5'Flank|SCRIB_ENST00000377533.3_5'Flank|SCRIB_ENST00000356994.2_Silent_p.P52P|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	52	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGCTCACCTTGGGCAGCTCGC	0.716																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NaN																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(154-156)CCC>CCT		scribble isoform b							12.0	12.0	12.0					8																	144897387		2183	4283	6466	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144897387G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.156C>T	8.37:g.144897387G>A						SCRIB_uc003yzo.1_Silent_p.P52P|MIR937_hsa-mir-937|MI0005759_5'Flank	p.P52P	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		1	163	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		52			LRR 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.156C>T	CCDS6411.1																																																																																				0.716	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1		NM_015356		5	6	0	0	0	1	0	5	6		
PLEC	5339	broad.mit.edu	37	8	144993918	144993918	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144993918G>A	ENST00000322810.4	-	32	10651	c.10482C>T	c.(10480-10482)ctC>ctT	p.L3494L	PLEC_ENST00000354589.3_Silent_p.L3357L|PLEC_ENST00000357649.2_Silent_p.L3361L|PLEC_ENST00000356346.3_Silent_p.L3343L|PLEC_ENST00000345136.3_Silent_p.L3357L|PLEC_ENST00000398774.2_Silent_p.L3325L|PLEC_ENST00000436759.2_Silent_p.L3384L|PLEC_ENST00000354958.2_Silent_p.L3335L|PLEC_ENST00000527096.1_Silent_p.L3380L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3494	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.L3384L(1)|p.L3357L(1)|p.L3494L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGATGCCGGCGAGGCAGCCAC	0.657																																						uc003zaf.1		NaN																	3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10480-10482)CTC>CTT		plectin isoform 1							24.0	28.0	26.0					8																	144993918		2084	4181	6265	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993918G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10482C>T	8.37:g.144993918G>A						PLEC_uc003zab.1_Silent_p.L3357L|PLEC_uc003zac.1_Silent_p.L3361L|PLEC_uc003zad.2_Silent_p.L3357L|PLEC_uc003zae.1_Silent_p.L3325L|PLEC_uc003zag.1_Silent_p.L3335L|PLEC_uc003zah.2_Silent_p.L3343L|PLEC_uc003zaj.2_Silent_p.L3384L	p.L3494L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10652	-			3494			Plectin 12.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10482C>T	CCDS43772.1																																																																																				0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		16	41	0	0	0	1	0	16	41		
PARP10	84875	broad.mit.edu	37	8	145059118	145059118	+	Missense_Mutation	SNP	G	G	C	rs148128554	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145059118G>C	ENST00000313028.7	-	5	1146	c.1052C>G	c.(1051-1053)tCg>tGg	p.S351W	PARP10_ENST00000525773.1_Missense_Mutation_p.S363W|PARP10_ENST00000524918.1_Missense_Mutation_p.S351W|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	351					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGGCATCGAGCTGACTTG	0.627																																						uc003zal.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.(1051-1053)TCG>TGG		poly (ADP-ribose) polymerase family, member 10							84.0	86.0	85.0					8																	145059118		2203	4300	6503	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145059118G>C	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1052C>G	8.37:g.145059118G>C	ENSP00000325618:p.Ser351Trp					PARP10_uc003zak.3_Missense_Mutation_p.S57W|PARP10_uc011lku.1_Missense_Mutation_p.S363W|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.S351W|PARP10_uc010mfn.1_Missense_Mutation_p.S266W|PARP10_uc010mfo.1_3'UTR	p.S351W	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	1160	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		351					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.1052C>G	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419253	0.42918	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.35236	2.77;2.77;2.77;1.32	3.95	0.963	0.19649	.	.	.	.	.	T	0.34106	0.0886	N	0.24115	0.695	0.09310	N	1	D;D;D	0.71674	0.993;0.998;0.993	P;P;P	0.56042	0.682;0.79;0.682	T	0.17501	-1.0367	9	0.87932	D	0	.	6.2364	0.20766	0.3521:0.0:0.6478:0.0	.	363;351;351	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	W	351;57;351;363;266	ENSP00000431620:S351W;ENSP00000325618:S351W;ENSP00000434776:S363W;ENSP00000314320:S266W	ENSP00000325618:S351W	S	-	2	0	PARP10	145131106	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.774000	0.01784	-0.114000	0.11936	0.552000	0.68991	TCG		0.627	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1		NM_032789		15	126	0	0	0	1	0	15	126		
CPSF1	29894	broad.mit.edu	37	8	145625827	145625827	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145625827C>T	ENST00000349769.3	-	8	841	c.747G>A	c.(745-747)caG>caA	p.Q249Q	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	249					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGTGCACCTTCTGCGTGATGT	0.647																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NaN																	0				skin(1)	1						c.(745-747)CAG>CAA		cleavage and polyadenylation specific factor 1,							108.0	107.0	108.0					8																	145625827		2203	4300	6503	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145625827C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.747G>A	8.37:g.145625827C>T						CPSF1_uc003zck.1_Silent_p.Q171Q|CPSF1_uc011lle.1_Silent_p.Q249Q|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Silent_p.Q249Q	p.Q249Q	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		8	822	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		249					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.747G>A	CCDS34966.1																																																																																				0.647	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2		NM_013291		6	79	0	0	0	1	0	6	79		
GPT	2875	broad.mit.edu	37	8	145729780	145729780	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145729780G>A	ENST00000528431.1	+	2	250	c.93G>A	c.(91-93)cgG>cgA	p.R31R	GPT_ENST00000394955.2_Silent_p.R31R			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	31					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CGCGTGTGCGGAGAGTGGAGT	0.672																																						uc011lli.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(91-93)CGG>CGA		glutamic pyruvate transaminase	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						106.0	95.0	99.0					8																	145729780		2201	4298	6499	SO:0001819	synonymous_variant	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145729780G>A		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.93G>A	8.37:g.145729780G>A						GPT_uc011llj.1_Silent_p.R31R|GPT_uc003zdh.3_Silent_p.R31R	p.R31R	NM_005309	NP_005300	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		2	250	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		31					B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	ENST00000528431.1	37	c.93G>A	CCDS6430.1																																																																																				0.672	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1				5	22	0	0	0	1	0	5	22		
MFSD3	113655	broad.mit.edu	37	8	145739392	145739392	+	IGR	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145739392C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Missense_Mutation_p.E660K	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAGGCTCTTCAGCCACAGCC	0.657																																						uc003zdj.2		NaN								N|F|S						osteosarcoma|skin basal and sqamous cell			0				breast(2)|lung(1)|skin(1)	4						c.(1978-1980)GAA>AAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4							15.0	20.0	18.0					8																	145739392		2075	4173	6248	SO:0001628	intergenic_variant	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145739392C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145739392C>T							p.E660K	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		12	2010	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		660			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000301327.4	37	c.1978G>A	CCDS6431.1																																																																																				0.657	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2		NM_138431		6	5	0	0	0	1	0	6	5		
KANK1	23189	broad.mit.edu	37	9	713026	713026	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:713026G>A	ENST00000382303.1	+	7	2912	c.2260G>A	c.(2260-2262)Gtg>Atg	p.V754M	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.V596M|KANK1_ENST00000382297.2_Missense_Mutation_p.V754M	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	754					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCATCAGCTGTGAAGACCAA	0.498																																						uc003zgl.1		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2260-2262)GTG>ATG		KN motif and ankyrin repeat domains 1 isoform a							100.0	98.0	99.0					9																	713026		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:713026G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2260G>A	9.37:g.713026G>A	ENSP00000371740:p.Val754Met					KANK1_uc003zgm.2_Missense_Mutation_p.V754M|KANK1_uc003zgn.1_Missense_Mutation_p.V754M|KANK1_uc003zgo.1_Missense_Mutation_p.V754M|KANK1_uc003zgp.1_Missense_Mutation_p.V754M|KANK1_uc003zgq.2_Missense_Mutation_p.V596M|KANK1_uc003zgr.1_Missense_Mutation_p.V596M|KANK1_uc003zgs.1_Missense_Mutation_p.V596M	p.V754M	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	2909	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	754					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.2260G>A	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761987	0.69763	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.16897	2.31;2.31;2.31	5.97	5.97	0.96955	.	0.254909	0.27650	N	0.018425	T	0.27419	0.0673	M	0.66939	2.045	0.80722	D	1	D;P	0.58620	0.983;0.902	P;P	0.52424	0.698;0.569	T	0.02093	-1.1215	10	0.59425	D	0.04	-3.4403	7.0411	0.25021	0.1075:0.1727:0.7199:0.0	.	754;754	Q5W0W1;Q14678	.;KANK1_HUMAN	M	754;754;754;596	ENSP00000371740:V754M;ENSP00000371734:V754M;ENSP00000371730:V596M	ENSP00000346479:V754M	V	+	1	0	KANK1	703026	0.013000	0.17824	0.976000	0.42696	0.994000	0.84299	1.084000	0.30828	2.836000	0.97738	0.655000	0.94253	GTG		0.498	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2		NM_015158		25	24	0	0	0	1	0	25	24		
GLDC	2731	broad.mit.edu	37	9	6595073	6595073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:6595073G>A	ENST00000321612.6	-	9	1352	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	401					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CAGCCCATGGGAACCATGGTA	0.418																																						uc003zkc.2		NaN																	0				ovary(2)	2						c.(1201-1203)TCC>TTC		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						130.0	139.0	136.0					9																	6595073		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6595073G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1202C>T	9.37:g.6595073G>A	ENSP00000370737:p.Ser401Phe						p.S401F	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	9	1395	-		Acute lymphoblastic leukemia(23;0.161)	401					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1202C>T	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451499	0.84209	.	.	ENSG00000178445	ENST00000321612	D	0.95885	-3.84	4.67	4.67	0.58626	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.111045	0.64402	D	0.000005	D	0.95796	0.8632	L	0.49778	1.585	0.58432	D	0.999997	P	0.41978	0.767	P	0.51229	0.663	D	0.96408	0.9302	10	0.87932	D	0	-19.3373	18.1254	0.89584	0.0:0.0:1.0:0.0	.	401	P23378	GCSP_HUMAN	F	401	ENSP00000370737:S401F	ENSP00000370737:S401F	S	-	2	0	GLDC	6585073	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	8.993000	0.93524	2.595000	0.87683	0.650000	0.86243	TCC		0.418	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2		NM_000170		34	123	0	0	0	1	0	34	123		
PTPRD	5789	broad.mit.edu	37	9	8484313	8484313	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:8484313G>A	ENST00000381196.4	-	27	3762	c.3219C>T	c.(3217-3219)gtC>gtT	p.V1073V	PTPRD_ENST00000397617.3_Silent_p.V652V|PTPRD_ENST00000540109.1_Silent_p.V1073V|PTPRD_ENST00000356435.5_Silent_p.V1073V|PTPRD_ENST00000397606.3_Silent_p.V652V|PTPRD_ENST00000397611.3_Silent_p.V659V|PTPRD_ENST00000537002.1_Silent_p.V659V|PTPRD_ENST00000360074.4_Silent_p.V1060V|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000358503.5_Silent_p.V1051V|PTPRD_ENST00000355233.5_Silent_p.V662V|PTPRD_ENST00000486161.1_Silent_p.V662V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1073	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GCTTCAGGTTGACAATTAACT	0.423										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3217-3219)GTC>GTT		protein tyrosine phosphatase, receptor type, D							104.0	96.0	99.0					9																	8484313		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8484313G>A	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.3219C>T	9.37:g.8484313G>A		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Silent_p.V662V|PTPRD_uc003zkq.2_Silent_p.V662V|PTPRD_uc003zkr.2_Silent_p.V657V|PTPRD_uc003zks.2_Silent_p.V652V|PTPRD_uc003zkl.2_Silent_p.V1064V|PTPRD_uc003zkm.2_Silent_p.V1060V|PTPRD_uc003zkn.2_Silent_p.V662V|PTPRD_uc003zko.2_Silent_p.V659V	p.V1073V	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)	29	3930	-		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)	1073			Fibronectin type-III 8.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.3219C>T	CCDS43786.1																																																																																				0.423	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				21	25	0	0	0	1	0	21	25		
ADAMTSL1	92949	broad.mit.edu	37	9	18657715	18657715	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:18657715G>C	ENST00000380548.4	+	8	1252	c.913G>C	c.(913-915)Gat>Cat	p.D305H	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.D305H|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.D305H|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.D305H	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	305						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GAGGGAGACGGATTTCTTTCC	0.463																																						uc003zne.3		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(913-915)GAT>CAT		ADAMTS-like 1 isoform 4 precursor							139.0	112.0	121.0					9																	18657715		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18657715G>C	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.913G>C	9.37:g.18657715G>C	ENSP00000369921:p.Asp305His					ADAMTSL1_uc003znb.2_Missense_Mutation_p.D305H|ADAMTSL1_uc003znc.3_Missense_Mutation_p.D305H	p.D305H	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	8	1040	+			305					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.913G>C	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913557	0.92178	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.71	5.71	0.89125	.	.	.	.	.	T	0.80433	0.4622	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.961	D;P	0.87578	0.998;0.865	T	0.80542	-0.1336	9	0.56958	D	0.05	.	19.8632	0.96793	0.0:0.0:1.0:0.0	.	305;305	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	H	305	ENSP00000369921:D305H;ENSP00000327887:D305H;ENSP00000369940:D305H;ENSP00000276935:D305H	ENSP00000276935:D305H	D	+	1	0	ADAMTSL1	18647715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.569000	0.82380	2.699000	0.92147	0.655000	0.94253	GAT		0.463	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1				5	34	0	0	0	1	0	5	34		
CDKN2A	1029	broad.mit.edu	37	9	21974792	21974792	+	Nonsense_Mutation	SNP	G	G	T	rs141798398		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:21974792G>T	ENST00000304494.5	-	1	305	c.35C>A	c.(34-36)tCg>tAg	p.S12*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.S12*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.S12*|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.S12*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	12					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.S12*(3)|p.S12fs*6(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGTCAGCCGAAGGCTCCAT	0.761		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1345	Whole gene deletion(1316)|Unknown(23)|Substitution - Nonsense(3)|Deletion - Frameshift(2)|Deletion - In frame(1)	p.0?(1112)|p.?(23)|p.S12*(3)|p.S12fs*6(1)|p.S12fs*14(1)|p.S7_A19del(1)|p.M9_A20>X(1)|p.P11_S12insAAGSSMEP(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM072935	CDKN2A	M	rs141798398	c.(34-36)TCG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21974792		1762	3675	5437	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974792G>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.35C>A	9.37:g.21974792G>T	ENSP00000307101:p.Ser12*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.S12*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.S12*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	247	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	12			ANK 1.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.35C>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299778	0.81136	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	0.769	0.18492	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	6.402	0.21644	0.1644:0.2822:0.5533:0.0	.	.	.	.	X	12	.	ENSP00000307101:S12X	S	-	2	0	CDKN2A	21964792	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.050000	0.11904	0.041000	0.15688	0.655000	0.94253	TCG		0.761	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		NM_000077		11	20	1	0	1.05317e-09	1	1.16403e-09	11	20		
ACO1	48	broad.mit.edu	37	9	32421006	32421006	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:32421006C>T	ENST00000309951.6	+	8	1089	c.951C>T	c.(949-951)atC>atT	p.I317I	ACO1_ENST00000379923.1_Silent_p.I317I|ACO1_ENST00000541043.1_Silent_p.I218I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	317					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AAGTTAGTATCACGTACCTGG	0.483																																						uc003zqw.3		NaN																	0					0						c.(949-951)ATC>ATT		aconitase 1							176.0	166.0	169.0					9																	32421006		2203	4300	6503	SO:0001819	synonymous_variant	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32421006C>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.951C>T	9.37:g.32421006C>T						ACO1_uc010mjh.1_Silent_p.I151I|ACO1_uc003zqx.3_Silent_p.I317I|ACO1_uc003zqy.3_RNA	p.I317I	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	8	1106	+			317					D3DRK7|Q14652|Q5VZA7	Silent	SNP	ENST00000309951.6	37	c.951C>T	CCDS6525.1																																																																																				0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3		NM_002197		29	93	0	0	0	1	0	29	93		
GALT	2592	broad.mit.edu	37	9	34647665	34647665	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:34647665C>T	ENST00000378842.3	+	4	382	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	114			H -> L (in GALCT).		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ACCCAGTGATCATCCCCTTTT	0.517									Galactosemia																													uc003zve.2		NaN																	0					0						c.(340-342)CAT>TAT		galactose-1-phosphate uridylyltransferase							112.0	104.0	107.0					9																	34647665		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34647665C>T	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.340C>T	9.37:g.34647665C>T	ENSP00000368119:p.His114Tyr					GALT_uc003zvf.2_Intron|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_Missense_Mutation_p.H66Y|GALT_uc011lop.1_Missense_Mutation_p.H66Y	p.H114Y	NM_000155	NP_000146	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	4	407	+	all_epithelial(49;0.102)		114		H -> L (in GALCT).			B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.340C>T	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342453	0.81911	.	.	ENSG00000213930	ENST00000378842	D	0.99338	-5.76	5.45	5.45	0.79879	Histidine triad motif (1);Histidine triad-like motif (1);Galactose-1-phosphate uridyl transferase, N-terminal (1);	0.139545	0.47093	U	0.000252	D	0.99217	0.9728	M	0.82323	2.585	0.80722	D	1	D;D	0.55385	0.971;0.966	P;P	0.56163	0.793;0.629	D	0.99201	1.0873	10	0.87932	D	0	-16.1611	16.0036	0.80327	0.0:1.0:0.0:0.0	.	66;114	B4DT62;P07902	.;GALT_HUMAN	Y	114	ENSP00000368119:H114Y	ENSP00000368119:H114Y	H	+	1	0	GALT	34637665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.672000	0.61597	2.580000	0.87095	0.655000	0.94253	CAT		0.517	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1		NM_000155		6	31	0	0	0	1	0	6	31		
KIAA1045	23349	broad.mit.edu	37	9	34971533	34971533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:34971533G>A	ENST00000242315.3	+	2	320	c.238G>A	c.(238-240)Gag>Aag	p.E80K	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.E80K	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	80							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CGCAGCCTGGGAGCGGCTCCG	0.637																																						uc003zvq.2		NaN																	0				skin(1)	1						c.(238-240)GAG>AAG		hypothetical protein LOC23349							67.0	82.0	77.0					9																	34971533		2016	4163	6179	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971533G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.238G>A	9.37:g.34971533G>A	ENSP00000242315:p.Glu80Lys					KIAA1045_uc003zvr.2_Missense_Mutation_p.E80K	p.E80K	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	416	+			80					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.238G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	31	5.068659	0.93950	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.8	5.8	0.92144	.	0.143965	0.49916	D	0.000134	T	0.63593	0.2524	L	0.57536	1.79	0.47584	D	0.999465	P	0.51933	0.949	P	0.48189	0.57	T	0.61860	-0.6976	8	.	.	.	-12.6474	19.0588	0.93078	0.0:0.0:1.0:0.0	.	80	Q9UPV7	K1045_HUMAN	K	80	.	.	E	+	1	0	KIAA1045	34961533	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.586000	0.67503	2.744000	0.94065	0.655000	0.94253	GAG		0.637	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2		XM_048592		26	88	0	0	0	1	0	26	88		
NPR2	4882	broad.mit.edu	37	9	35811936	35811936	+	IGR	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:35811936G>A	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.S36L|SPAG8_ENST00000396638.2_Missense_Mutation_p.S36L|HINT2_ENST00000474908.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000484764.1_Missense_Mutation_p.S34L|TMEM8B_ENST00000377996.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACTGTCATCTGAAGAAGGAAA	0.572																																						uc003zye.2		NaN																	0				ovary(1)	1						c.(106-108)TCA>TTA		sperm associated antigen 8 isoform 2							29.0	35.0	33.0					9																	35811936		2199	4300	6499	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811936G>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811936G>A						SPAG8_uc003zyf.2_5'UTR|SPAG8_uc003zyg.2_Missense_Mutation_p.S36L	p.S36L	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	222	-	all_epithelial(49;0.161)		36					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.107C>T	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.23|12.23	1.876465|1.876465	0.33162|0.33162	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000484764;ENST00000396638	.|T;T;T	.|0.60040	.|0.22;0.22;0.22	3.43|3.43	0.545|0.545	0.17190|0.17190	.|.	.|0.469793	.|0.16023	.|N	.|0.233226	.|T	.|0.45216	.|0.1331	L|L	0.55481|0.55481	1.735|1.735	0.27089|0.27089	N|N	0.962896|0.962896	.|B;B	.|0.17667	.|0.008;0.023	.|B;B	.|0.12156	.|0.007;0.007	.|T	.|0.37337	.|-0.9710	.|10	.|0.46703	.|T	.|0.11	-0.7398|-0.7398	3.5603|3.5603	0.07880|0.07880	0.247:0.2342:0.5188:0.0|0.247:0.2342:0.5188:0.0	.|.	.|36;36	.|E9PDV6;Q99932-2	.|.;.	X|L	34|36;34;36	.|ENSP00000340982:S36L;ENSP00000418072:S34L;ENSP00000379878:S36L	.|ENSP00000340982:S36L	Q|S	-|-	1|2	0|0	SPAG8|SPAG8	35801936|35801936	0.002000|0.002000	0.14202|0.14202	0.396000|0.396000	0.26296|0.26296	0.028000|0.028000	0.11728|0.11728	-0.125000|-0.125000	0.10579|0.10579	0.100000|0.100000	0.17581|0.17581	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.572	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1				10	37	0	0	0	1	0	10	37		
FOXD4L3	286380	broad.mit.edu	37	9	70918850	70918850	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:70918850G>C	ENST00000342833.2	+	1	1575	c.983G>C	c.(982-984)aGa>aCa	p.R328T		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	328						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TCAGCATTGAGAGTATTATGC	0.632																																						uc004agm.1		NaN																	0					0						c.(982-984)AGA>ACA		forkhead box D4-like 3							31.0	42.0	39.0					9																	70918850		2159	4250	6409	SO:0001583	missense	286380					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:70918850G>C	AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.983G>C	9.37:g.70918850G>C	ENSP00000341961:p.Arg328Thr						p.R328T	NM_199135	NP_954586	Q6VB84	FX4L3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	1	1068	+			328					Q5JTX9	Missense_Mutation	SNP	ENST00000342833.2	37	c.983G>C	CCDS43833.1	.	.	.	.	.	.	.	.	.	.	.	12.27	1.887043	0.33348	.	.	ENSG00000187559	ENST00000342833	D	0.94613	-3.47	4.04	2.01	0.26516	.	0.890743	0.08834	U	0.886884	D	0.86961	0.6059	N	0.14661	0.345	0.22511	N	0.999034	B	0.29862	0.259	B	0.25759	0.063	T	0.80251	-0.1460	10	0.87932	D	0	.	6.5526	0.22442	0.1123:0.1882:0.6996:0.0	.	328	Q6VB84	FX4L3_HUMAN	T	328	ENSP00000341961:R328T	ENSP00000341961:R328T	R	+	2	0	FOXD4L3	70108670	0.220000	0.23631	1.000000	0.80357	0.806000	0.45545	-0.499000	0.06413	1.957000	0.56846	0.455000	0.32223	AGA		0.632	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052539.2		NM_199358		20	96	0	0	0	1	0	20	96		
TJP2	9414	broad.mit.edu	37	9	71866215	71866215	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:71866215G>A	ENST00000377245.4	+	21	3464	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K	TJP2_ENST00000539225.1_Missense_Mutation_p.E1117K|TJP2_ENST00000535702.1_Missense_Mutation_p.E1053K|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000348208.4_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1086					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAAATATTTGAGAAGATGGA	0.468																																						uc004ahe.2		NaN																	0					0						c.(3256-3258)GAG>AAG		tight junction protein 2 (zona occludens 2)							78.0	78.0	78.0					9																	71866215		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71866215G>A	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3256G>A	9.37:g.71866215G>A	ENSP00000366453:p.Glu1086Lys					TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Missense_Mutation_p.E1053K|TJP2_uc011lrv.1_Missense_Mutation_p.E1108K|TJP2_uc010mom.1_Intron	p.E1086K	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			21	3456	+			1086					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.3256G>A	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501041	0.96371	.	.	ENSG00000119139	ENST00000377245;ENST00000535702;ENST00000539225	T;T;T	0.32023	2.42;1.47;2.45	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.998;0.991;1.0	D;P;D	0.87578	0.994;0.857;0.998	T	0.54050	-0.8351	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1117;1053;1086	F5H301;F5H886;Q9UDY2	.;.;ZO2_HUMAN	K	1086;1053;1117	ENSP00000366453:E1086K;ENSP00000442090:E1053K;ENSP00000438262:E1117K	ENSP00000366453:E1086K	E	+	1	0	TJP2	71056035	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.987000	0.93497	2.941000	0.99782	0.655000	0.94253	GAG		0.468	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2		NM_201629		11	43	0	0	0	1	0	11	43		
HNRNPK	3190	broad.mit.edu	37	9	86586977	86586977	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:86586977C>G	ENST00000376264.2	-	11	1031	c.773G>C	c.(772-774)aGa>aCa	p.R258T	MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000360384.5_Missense_Mutation_p.R258T|HNRNPK_ENST00000376281.4_Missense_Mutation_p.R258T|HNRNPK_ENST00000351839.3_Missense_Mutation_p.R258T|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376263.3_Missense_Mutation_p.R258T	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	258	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.|Necessary for interaction with DDX1.|RNA-binding RGG-box.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AAAACCACCTCTTCCCCGCAT	0.507																																						uc004ang.3		NaN																	0				skin(1)	1						c.(772-774)AGA>ACA		heterogeneous nuclear ribonucleoprotein K							52.0	56.0	55.0					9																	86586977		2203	4300	6503	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86586977C>G		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.773G>C	9.37:g.86586977C>G	ENSP00000365440:p.Arg258Thr					HNRNPK_uc011lsw.1_Missense_Mutation_p.R18T|HNRNPK_uc004and.3_Missense_Mutation_p.R18T|HNRNPK_uc004ank.3_Missense_Mutation_p.R258T|HNRNPK_uc004anf.3_Missense_Mutation_p.R258T|HNRNPK_uc004anh.3_Missense_Mutation_p.R234T|HNRNPK_uc011lsx.1_Missense_Mutation_p.R234T|HNRNPK_uc004ani.3_Missense_Mutation_p.R258T|HNRNPK_uc004anj.3_Missense_Mutation_p.R258T|HNRNPK_uc004ann.3_Missense_Mutation_p.R234T|HNRNPK_uc004anl.3_Missense_Mutation_p.R258T|HNRNPK_uc004anm.3_Missense_Mutation_p.R258T|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	p.R258T	NM_031262	NP_112552	P61978	HNRPK_HUMAN			11	997	-			258			5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.|RNA-binding RGG-box.|2 X 6 AA approximate repeats.|Necessary for interaction with DDX1.|3-2.|Interaction with ZIK1 (By similarity).		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.773G>C	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066225	0.36470	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.52057	0.68;0.73;0.68;0.73;0.73	5.31	5.31	0.75309	.	0.112850	0.64402	D	0.000005	T	0.36880	0.0983	L	0.31065	0.9	0.58432	D	0.999995	B;B;P;P;P;B;P;B	0.36465	0.319;0.319;0.546;0.546;0.554;0.447;0.546;0.418	B;B;B;B;B;B;B;B	0.36289	0.096;0.149;0.136;0.136;0.221;0.196;0.136;0.11	T	0.11446	-1.0587	10	0.12766	T	0.61	-6.8894	17.5267	0.87802	0.0:1.0:0.0:0.0	.	234;223;258;253;258;234;258;258	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	T	258;258;258;258;258;223;258;253;234;189	ENSP00000365458:R258T;ENSP00000365440:R258T;ENSP00000365439:R258T;ENSP00000317788:R258T;ENSP00000353552:R258T	ENSP00000317788:R258T	R	-	2	0	HNRNPK	85776797	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.369000	0.66138	2.636000	0.89361	0.655000	0.94253	AGA		0.507	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2				8	69	0	0	0	1	0	8	69		
SLC28A3	64078	broad.mit.edu	37	9	86905100	86905100	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:86905100C>T	ENST00000376238.4	-	11	1167	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.G304E	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	373					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)	TAGCACGCTTCCAGCAATGGT	0.428																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(1117-1119)GGA>GAA		concentrative Na+-nucleoside cotransporter							113.0	107.0	109.0					9																	86905100		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86905100C>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.1118G>A	9.37:g.86905100C>T	ENSP00000365413:p.Gly373Glu					SLC28A3_uc011lsy.1_Missense_Mutation_p.G304E|SLC28A3_uc004anu.1_Missense_Mutation_p.G373E	p.G373E	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			11	1243	-			373			Helical; (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.1118G>A	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949932	0.92660	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.29917	1.55;1.55	5.82	4.9	0.64082	Nucleoside recognition (1);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	H	0.97783	4.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.82707	-0.0324	10	0.87932	D	0	-9.7757	17.0208	0.86433	0.0:0.8733:0.1267:0.0	.	373	Q9HAS3	S28A3_HUMAN	E	373;304	ENSP00000365413:G373E;ENSP00000446438:G304E	ENSP00000365413:G373E	G	-	2	0	SLC28A3	86094920	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.686000	0.84128	2.756000	0.94617	0.563000	0.77884	GGA		0.428	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1		NM_022127		14	61	0	0	0	1	0	14	61		
DAPK1	1612	broad.mit.edu	37	9	90252913	90252913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:90252913G>A	ENST00000408954.3	+	4	675	c.340G>A	c.(340-342)Gag>Aag	p.E114K	DAPK1_ENST00000358077.5_Missense_Mutation_p.E114K|DAPK1_ENST00000469640.2_Missense_Mutation_p.E114K|DAPK1_ENST00000491893.1_Missense_Mutation_p.E114K|DAPK1_ENST00000472284.1_Missense_Mutation_p.E114K	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTTAACTGAAGAGGAAGCAAC	0.413									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NaN																	0				ovary(1)|breast(1)	2						c.(340-342)GAG>AAG		death-associated protein kinase 1							116.0	112.0	113.0					9																	90252913		1997	4204	6201	SO:0001583	missense	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90252913G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.340G>A	9.37:g.90252913G>A	ENSP00000386135:p.Glu114Lys					DAPK1_uc004ape.2_Missense_Mutation_p.E114K|DAPK1_uc004apd.2_Missense_Mutation_p.E114K|DAPK1_uc011ltg.1_Missense_Mutation_p.E114K|DAPK1_uc011lth.1_5'UTR	p.E114K	NM_004938	NP_004929	P53355	DAPK1_HUMAN			4	478	+			114			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.340G>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925738	0.92319	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000170	T	0.53834	0.1821	L	0.31476	0.935	0.80722	D	1	P;P;P	0.39352	0.669;0.477;0.526	B;B;B	0.37780	0.236;0.126;0.258	T	0.55736	-0.8094	10	0.42905	T	0.14	.	19.0661	0.93110	0.0:0.0:1.0:0.0	.	114;114;114	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	K	114	ENSP00000350785:E114K;ENSP00000417076:E114K;ENSP00000418885:E114K;ENSP00000386135:E114K;ENSP00000419026:E114K	ENSP00000350785:E114K	E	+	1	0	DAPK1	89442733	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.657000	0.98554	2.746000	0.94184	0.655000	0.94253	GAG		0.413	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		NM_004938		27	45	0	0	0	1	0	27	45		
NOL8	55035	broad.mit.edu	37	9	95062233	95062233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:95062233C>T	ENST00000535387.1	-	12	3126	c.3127G>A	c.(3127-3129)Gac>Aac	p.D1043N	NOL8_ENST00000358855.4_Missense_Mutation_p.D1013N|NOL8_ENST00000542053.1_Missense_Mutation_p.D1013N|NOL8_ENST00000545558.1_Missense_Mutation_p.D1081N|NOL8_ENST00000442668.2_Missense_Mutation_p.D1081N					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GAACTGCTGTCTTGTAAACGA	0.398																																						uc004arv.2		NaN																	0				ovary(1)	1						c.(3241-3243)GAC>AAC		nucleolar protein 8							243.0	232.0	236.0					9																	95062233		1857	4106	5963	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95062233C>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.3127G>A	9.37:g.95062233C>T	ENSP00000441300:p.Asp1043Asn					NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.D313N|NOL8_uc011ltw.1_Missense_Mutation_p.D1013N	p.D1081N	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			14	3578	-			1081						Missense_Mutation	SNP	ENST00000535387.1	37	c.3241G>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307584	0.95629	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053	T;T;T;T;T	0.26518	1.73;1.81;1.73;2.13;1.81	5.94	5.94	0.96194	.	0.091955	0.64402	D	0.000001	T	0.53481	0.1799	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;P	0.68039	0.955;0.902	T	0.52102	-0.8620	10	0.66056	D	0.02	-13.7658	19.9687	0.97276	0.0:1.0:0.0:0.0	.	1013;1081	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	N	1081;1045;1013;1081;1043;1013	ENSP00000401177:D1081N;ENSP00000351723:D1013N;ENSP00000441140:D1081N;ENSP00000441300:D1043N;ENSP00000440709:D1013N	ENSP00000351723:D1013N	D	-	1	0	NOL8	94102054	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.077000	0.71275	2.820000	0.97059	0.650000	0.86243	GAC		0.398	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2		NM_017948		47	216	0	0	0	1	0	47	216		
ZNF484	83744	broad.mit.edu	37	9	95618484	95618484	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:95618484C>G	ENST00000375495.3	-	3	280	c.132G>C	c.(130-132)ttG>ttC	p.L44F	ZNF484_ENST00000395505.2_Missense_Mutation_p.L8F|ZNF484_ENST00000395506.3_Missense_Mutation_p.L46F|ZNF484_ENST00000332591.6_Missense_Mutation_p.L8F|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CCACTGAGATCAAGTTGAAAT	0.428																																						uc004asu.1		NaN																	0					0						c.(130-132)TTG>TTC		zinc finger protein 484 isoform a							173.0	162.0	166.0					9																	95618484		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95618484C>G	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.132G>C	9.37:g.95618484C>G	ENSP00000364645:p.Leu44Phe					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.L46F|ZNF484_uc010mrb.1_Missense_Mutation_p.L8F|ZNF484_uc004asv.1_Missense_Mutation_p.L8F	p.L44F	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			3	281	-			44			KRAB.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.132G>C	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509026	0.27036	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.03801	5.24;3.8;3.8;5.24	2.51	2.51	0.30379	Krueppel-associated box (4);	.	.	.	.	T	0.08537	0.0212	M	0.76433	2.335	0.24203	N	0.995505	B;B	0.29162	0.235;0.1	B;B	0.32465	0.146;0.096	T	0.14364	-1.0475	9	0.66056	D	0.02	.	7.3945	0.26929	0.0:0.7272:0.2728:0.0	.	46;44	B4DRI2;Q5JVG2	.;ZN484_HUMAN	F	8;46;44;8	ENSP00000378881:L8F;ENSP00000378882:L46F;ENSP00000364645:L44F;ENSP00000364646:L8F	ENSP00000364646:L8F	L	-	3	2	ZNF484	94658305	0.001000	0.12720	0.951000	0.38953	0.993000	0.82548	-0.016000	0.12613	1.723000	0.51488	0.573000	0.79308	TTG		0.428	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2		XM_046861		15	110	0	0	0	1	0	15	110		
CCDC180	100499483	broad.mit.edu	37	9	100071729	100071729	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:100071729A>C	ENST00000357054.1	+	17	1587	c.652A>C	c.(652-654)Aag>Cag	p.K218Q	CCDC180_ENST00000395220.1_Missense_Mutation_p.K218Q|CCDC180_ENST00000411667.2_Missense_Mutation_p.K79Q|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.K79Q|CCDC180_ENST00000529487.1_Missense_Mutation_p.K79Q			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	218						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GGCCACCAGGAAGCGGGCTGC	0.602																																						uc011lut.1		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(652-654)AAG>CAG		hypothetical protein LOC57653							57.0	56.0	56.0					9																	100071729		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100071729A>C	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.652A>C	9.37:g.100071729A>C	ENSP00000349562:p.Lys218Gln					KIAA1529_uc004axe.1_Missense_Mutation_p.K218Q|KIAA1529_uc004axg.1_Missense_Mutation_p.K79Q|KIAA1529_uc011lus.1_Missense_Mutation_p.K79Q|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.K79Q|KIAA1529_uc011luv.1_Missense_Mutation_p.K79Q	p.K218Q	NM_020893	NP_065944					15	1425	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.652A>C		.	.	.	.	.	.	.	.	.	.	A	9.319	1.057619	0.19907	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.20738	2.9;2.05;2.91;2.54;2.91	4.71	3.55	0.40652	.	0.552402	0.16173	N	0.226220	T	0.24198	0.0586	L	0.55481	1.735	0.27073	N	0.963271	P;P;P;P	0.50943	0.94;0.886;0.94;0.886	P;B;P;B	0.47015	0.534;0.276;0.534;0.381	T	0.06075	-1.0847	10	0.37606	T	0.19	-18.9901	8.6435	0.33991	0.8062:0.1938:0.0:0.0	.	79;218;79;218	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	Q	218;218;79;79;102;79	ENSP00000349562:K218Q;ENSP00000378646:K218Q;ENSP00000364348:K79Q;ENSP00000414000:K79Q;ENSP00000434727:K79Q	ENSP00000349562:K218Q	K	+	1	0	C9orf174	99111550	0.997000	0.39634	0.970000	0.41538	0.098000	0.18820	1.290000	0.33319	0.751000	0.32900	-0.466000	0.05196	AAG		0.602	CCDC180-201	KNOWN	basic	protein_coding	protein_coding			NM_020893		9	48	0	0	0	1	0	9	48		
TBC1D2	55357	broad.mit.edu	37	9	100963836	100963836	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:100963836G>A	ENST00000375064.1	-	11	2420	c.2382C>T	c.(2380-2382)ctC>ctT	p.L794L	TBC1D2_ENST00000375066.5_Silent_p.L794L|TBC1D2_ENST00000342112.5_Silent_p.L576L|TBC1D2_ENST00000375063.1_Silent_p.L334L	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	794	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAAGACCACGAGGAACCAGT	0.612																																						uc011lvb.1		NaN																	0				ovary(3)	3						c.(2380-2382)CTC>CTT		TBC1 domain family, member 2							142.0	106.0	118.0					9																	100963836		2203	4300	6503	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100963836G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2382C>T	9.37:g.100963836G>A						TBC1D2_uc004ayp.2_Silent_p.L334L|TBC1D2_uc004ayq.2_Silent_p.L794L|TBC1D2_uc004ayr.2_Silent_p.L576L|TBC1D2_uc004ayo.3_Silent_p.L794L	p.L794L	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	11	2562	-		Myeloproliferative disorder(762;0.0255)	794			Rab-GAP TBC.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.2382C>T																																																																																					0.612	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1		NM_018421		14	65	0	0	0	1	0	14	65		
GRIN3A	116443	broad.mit.edu	37	9	104356723	104356723	+	Intron	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:104356723C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.E164K	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTGTGGATCTCCAGGTCTCTG	0.478																																						uc004bbr.2		NaN																	0				ovary(1)|skin(1)	2						c.(490-492)GAG>AAG		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						112.0	94.0	100.0					9																	104356723		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356723C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15081G>A	9.37:g.104356723C>T						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	p.E164K	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	561	-		Acute lymphoblastic leukemia(62;0.0527)	161			EF-hand 4.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.490G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832319	0.50845	.	.	ENSG00000188386	ENST00000374806	T	0.30714	1.52	4.28	3.36	0.38483	.	0.172710	0.27912	N	0.017356	T	0.22166	0.0534	L	0.31664	0.95	0.23030	N	0.998401	B	0.06786	0.001	B	0.10450	0.005	T	0.20438	-1.0275	10	0.59425	D	0.04	-25.699	10.1173	0.42598	0.0:0.7968:0.2032:0.0	.	161	Q96LZ3	CANB2_HUMAN	K	164	ENSP00000363939:E164K	ENSP00000363939:E164K	E	-	1	0	PPP3R2	103396544	1.000000	0.71417	0.048000	0.18961	0.273000	0.26683	2.180000	0.42537	1.363000	0.46019	0.655000	0.94253	GAG		0.478	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1				10	77	0	0	0	1	0	10	77		
GRIN3A	116443	broad.mit.edu	37	9	104433061	104433061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:104433061C>G	ENST00000361820.3	-	3	2233	c.1633G>C	c.(1633-1635)Gac>Cac	p.D545H		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	545					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GTCATGGGGTCTAGACAGAGT	0.463																																						uc004bbp.1		NaN																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1633-1635)GAC>CAC		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						135.0	123.0	127.0					9																	104433061		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433061C>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1633G>C	9.37:g.104433061C>G	ENSP00000355155:p.Asp545His					GRIN3A_uc004bbq.1_Missense_Mutation_p.D545H	p.D545H	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2234	-		Acute lymphoblastic leukemia(62;0.0568)	545			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1633G>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972394	0.53614	.	.	ENSG00000198785	ENST00000361820	T	0.11821	2.74	5.72	0.254	0.15557	.	0.233058	0.41823	N	0.000814	T	0.15825	0.0381	M	0.79475	2.455	0.53688	D	0.999976	B	0.26041	0.14	B	0.28011	0.085	T	0.03025	-1.1081	10	0.41790	T	0.15	.	7.1179	0.25427	0.0:0.6191:0.1119:0.269	.	545	Q8TCU5	NMD3A_HUMAN	H	545	ENSP00000355155:D545H	ENSP00000355155:D545H	D	-	1	0	GRIN3A	103472882	0.997000	0.39634	0.983000	0.44433	0.997000	0.91878	3.052000	0.49893	-0.117000	0.11872	0.644000	0.83932	GAC		0.463	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1				22	77	0	0	0	1	0	22	77		
CYLC2	1539	broad.mit.edu	37	9	105767661	105767661	+	Missense_Mutation	SNP	G	G	A	rs558649241		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:105767661G>A	ENST00000374798.3	+	5	818	c.748G>A	c.(748-750)Gat>Aat	p.D250N	CYLC2_ENST00000487798.1_Missense_Mutation_p.D250N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	250	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGGAAAAAAAGATGCAAACAA	0.368																																						uc004bbs.2		NaN																	0				skin(1)	1						c.(748-750)GAT>AAT		cylicin 2							114.0	109.0	111.0					9																	105767661		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767661G>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.748G>A	9.37:g.105767661G>A	ENSP00000420256:p.Asp250Asn						p.D250N	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			5	818	+		all_hematologic(171;0.125)	250			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.748G>A	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438024	0.25900	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15139	2.45;2.45	4.6	4.6	0.57074	.	1.121530	0.06862	N	0.799323	T	0.32071	0.0817	L	0.43923	1.385	0.09310	N	1	D	0.67145	0.996	P	0.62813	0.907	T	0.21518	-1.0243	10	0.19147	T	0.46	-5.4734	13.1381	0.59421	0.0:0.0:1.0:0.0	.	250	Q14093	CYLC2_HUMAN	N	250	ENSP00000420256:D250N;ENSP00000417674:D250N	ENSP00000420256:D250N	D	+	1	0	CYLC2	104807482	0.000000	0.05858	0.016000	0.15963	0.204000	0.24138	0.213000	0.17521	2.544000	0.85801	0.585000	0.79938	GAT		0.368	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3		NM_001340		8	55	0	0	0	1	0	8	55		
OR13C4	138804	broad.mit.edu	37	9	107288606	107288606	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:107288606G>A	ENST00000277216.3	-	1	884	c.885C>T	c.(883-885)atC>atT	p.I295I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCAAGCTATAGATTATGGGGT	0.403																																						uc011lvn.1		NaN																	0				skin(1)	1						c.(883-885)ATC>ATT		olfactory receptor, family 13, subfamily C,							51.0	54.0	53.0					9																	107288606		2203	4300	6503	SO:0001819	synonymous_variant	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288606G>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.885C>T	9.37:g.107288606G>A							p.I295I	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	885	-			295			Helical; Name=7; (Potential).		Q6IF51|Q96R41	Silent	SNP	ENST00000277216.3	37	c.885C>T	CCDS35088.1																																																																																				0.403	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1				14	76	0	0	0	1	0	14	76		
ABCA1	19	broad.mit.edu	37	9	107564394	107564394	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:107564394G>C	ENST00000374736.3	-	34	5033	c.4639C>G	c.(4639-4641)Ccg>Gcg	p.P1547A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1547					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TCTTGACTCGGAGGAAGTGCT	0.423																																						uc004bcl.2		NaN																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(4639-4641)CCG>GCG		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						134.0	124.0	127.0					9																	107564394		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107564394G>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4639C>G	9.37:g.107564394G>C	ENSP00000363868:p.Pro1547Ala						p.P1547A	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	34	4952	-			1547			Extracellular.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.4639C>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768634	0.31320	.	.	ENSG00000165029	ENST00000374736	D	0.86627	-2.15	5.78	2.96	0.34315	.	0.342931	0.35320	N	0.003285	T	0.78381	0.4274	L	0.31752	0.955	0.80722	D	1	B	0.09022	0.002	B	0.16722	0.016	T	0.66941	-0.5796	10	0.21014	T	0.42	.	11.2266	0.48888	0.1984:0.0:0.8016:0.0	.	1547	O95477	ABCA1_HUMAN	A	1547	ENSP00000363868:P1547A	ENSP00000363868:P1547A	P	-	1	0	ABCA1	106604215	1.000000	0.71417	0.967000	0.41034	0.434000	0.31775	3.012000	0.49575	0.462000	0.27095	0.655000	0.94253	CCG		0.423	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502		11	49	0	0	0	1	0	11	49		
TMEM245	23731	broad.mit.edu	37	9	111798489	111798489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:111798489G>A	ENST00000374586.3	-	16	2427	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	799						integral component of membrane (GO:0016021)											TACTTACCCTGATATGTCAGA	0.373																																						uc004bdt.3		NaN																	0				central_nervous_system(1)	1						c.(2395-2397)TCA>TTA		hypothetical protein LOC23731							76.0	72.0	73.0					9																	111798489		1853	4108	5961	SO:0001583	missense	23731					integral to membrane		g.chr9:111798489G>A	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.2396C>T	9.37:g.111798489G>A	ENSP00000363714:p.Ser799Leu					C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.S791L	p.S799L	NM_032012	NP_114401	Q9H330	CI005_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)	16	2428	-		Myeloproliferative disorder(63;0.204)	799					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	c.2396C>T	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207718	0.95033	.	.	ENSG00000106771	ENST00000374586;ENST00000223608	T	0.38560	1.13	5.52	5.52	0.82312	.	0.068801	0.64402	D	0.000009	T	0.54532	0.1864	L	0.36672	1.1	0.58432	D	0.999996	D;D	0.89917	0.981;1.0	P;D	0.87578	0.801;0.998	T	0.39742	-0.9599	10	0.14252	T	0.57	.	19.4375	0.94801	0.0:0.0:1.0:0.0	.	799;799	Q9H330-2;Q9H330	.;CI005_HUMAN	L	799	ENSP00000363714:S799L	ENSP00000223608:S799L	S	-	2	0	C9orf5	110838310	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.744000	0.98853	2.594000	0.87642	0.650000	0.86243	TCA		0.373	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2		NM_032012		5	38	0	0	0	1	0	5	38		
EPB41L4B	54566	broad.mit.edu	37	9	112020527	112020527	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:112020527C>G	ENST00000374566.3	-	7	1199	c.682G>C	c.(682-684)Gag>Cag	p.E228Q	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.E228Q	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	228	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACCGAAACTCAGACACAAGC	0.443																																						uc004bdz.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(682-684)GAG>CAG		erythrocyte membrane protein band 4.1 like 4B							106.0	103.0	104.0					9																	112020527		1903	4129	6032	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112020527C>G	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.682G>C	9.37:g.112020527C>G	ENSP00000363694:p.Glu228Gln					EPB41L4B_uc004bea.2_Missense_Mutation_p.E228Q	p.E228Q	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			7	977	-			228			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.682G>C	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258370	0.95368	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	T;T	0.79141	-1.24;-1.24	5.48	5.48	0.80851	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.36740	N	0.002431	D	0.87744	0.6254	M	0.68728	2.09	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.92;0.999	D	0.87913	0.2698	10	0.66056	D	0.02	.	19.7151	0.96113	0.0:1.0:0.0:0.0	.	228;228	Q9H329-2;Q9H329	.;E41LB_HUMAN	Q	228;228;150	ENSP00000363694:E228Q;ENSP00000363685:E228Q	ENSP00000311274:E150Q	E	-	1	0	EPB41L4B	111060348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.744000	0.94065	0.563000	0.77884	GAG		0.443	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1		NM_018424		10	61	0	0	0	1	0	10	61		
PALM2	114299	broad.mit.edu	37	9	112705701	112705701	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:112705701T>C	ENST00000374531.2	+	7	1210	c.1136T>C	c.(1135-1137)aTg>aCg	p.M379T	AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.M377T|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.M411T|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000448454.2_Missense_Mutation_p.M413T	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	379					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						TGTGTTGTCATGTGACCACTT	0.512																																						uc004beg.2		NaN																	0				ovary(2)	2						c.(1135-1137)ATG>ACG		paralemmin 2 isoform b							145.0	117.0	127.0					9																	112705701		2203	4300	6503	SO:0001583	missense	114299				regulation of cell shape	plasma membrane		g.chr9:112705701T>C	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.1136T>C	9.37:g.112705701T>C	ENSP00000363656:p.Met379Thr					PALM2_uc004bef.2_Missense_Mutation_p.M413T|PALM2_uc004beh.3_Missense_Mutation_p.M411T|PALM2-AKAP2_uc004bei.2_Intron|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	p.M379T	NM_001037293	NP_001032370	Q8IXS6	PALM2_HUMAN			7	1206	+			379					A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.1136T>C	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311772	0.60414	.	.	ENSG00000243444	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.86	5.86	0.93980	.	.	.	.	.	T	0.45696	0.1355	M	0.66297	2.02	0.80722	D	1	D;D	0.64830	0.985;0.994	D;D	0.75020	0.977;0.985	T	0.41945	-0.9480	9	0.87932	D	0	.	15.4456	0.75228	0.0:0.0:0.0:1.0	.	379;413	Q8IXS6;D3YTA4	PALM2_HUMAN;.	T	379;413;377;411	ENSP00000363656:M379T;ENSP00000400206:M413T;ENSP00000417525:M377T;ENSP00000323805:M411T	ENSP00000323805:M411T	M	+	2	0	PALM2	111745522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.244000	0.73946	0.528000	0.53228	ATG		0.512	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1		NM_001037293		17	81	0	0	0	1	0	17	81		
HDHD3	81932	broad.mit.edu	37	9	116136283	116136283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:116136283C>G	ENST00000238379.5	-	2	1249	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	HDHD3_ENST00000374180.3_Missense_Mutation_p.E118Q|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	118						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						AGGGTGTCCTCAGCCCCATCC	0.627																																						uc004bhi.1		NaN																	0					0						c.(352-354)GAG>CAG		haloacid dehalogenase-like hydrolase domain							104.0	113.0	110.0					9																	116136283		2203	4300	6503	SO:0001583	missense	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136283C>G	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.352G>C	9.37:g.116136283C>G	ENSP00000238379:p.Glu118Gln					HDHD3_uc004bhj.2_Missense_Mutation_p.E118Q|HDHD3_uc004bhk.2_Missense_Mutation_p.E118Q	p.E118Q	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN			2	1136	-			118					B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	c.352G>C	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	C	6.066	0.380449	0.11466	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.05855	3.38;3.38	5.86	3.64	0.41730	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.601453	0.18775	N	0.131506	T	0.05731	0.0150	L	0.36672	1.1	0.09310	N	1	B	0.21309	0.054	B	0.21708	0.036	T	0.40459	-0.9562	10	0.21540	T	0.41	-10.986	8.63	0.33913	0.0:0.6401:0.0:0.3599	.	118	Q9BSH5	HDHD3_HUMAN	Q	118	ENSP00000238379:E118Q;ENSP00000363295:E118Q	ENSP00000238379:E118Q	E	-	1	0	HDHD3	115176104	0.001000	0.12720	0.020000	0.16555	0.691000	0.40173	0.828000	0.27435	0.708000	0.31955	0.655000	0.94253	GAG		0.627	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1		NM_031219		35	132	0	0	0	1	0	35	132		
DFNB31	25861	broad.mit.edu	37	9	117188609	117188609	+	Missense_Mutation	SNP	G	G	A	rs142990800	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:117188609G>A	ENST00000362057.3	-	4	1216	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	DFNB31_ENST00000374059.3_5'Flank|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	350	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGAGGTGCCGAGATGACTTA	0.587													G|||	7	0.00139776	0.0045	0.0014	5008	,	,		19741	0.0		0.0	False		,,,				2504	0.0					uc004biz.3		NaN																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1048-1050)CGG>TGG		CASK-interacting protein CIP98 isoform 1		G	,TRP/ARG,TRP/ARG	16,4390	23.3+/-48.9	0,16,2187	100.0	85.0	90.0		,1048,1048	4.1	1.0	9	dbSNP_134	90	0,8600		0,0,4300	yes	utr-5,missense,missense	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	,101,101	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	,probably-damaging,probably-damaging	,350/907,350/908	117188609	16,12990	2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117188609G>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1048C>T	9.37:g.117188609G>A	ENSP00000354623:p.Arg350Trp					DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.R350W	p.R350W	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			4	1697	-			350			PDZ 2.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.1048C>T	CCDS6806.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.70	3.876003	0.72180	0.003631	0.0	ENSG00000095397	ENST00000362057	T	0.18016	2.24	5.05	4.05	0.47172	PDZ/DHR/GLGF (3);	0.124172	0.53938	D	0.000048	T	0.36193	0.0958	M	0.62088	1.915	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.61722	0.893;0.846	T	0.22068	-1.0227	10	0.72032	D	0.01	-16.4422	16.1112	0.81263	0.0:0.0:0.8571:0.1429	.	350;350	B9EGE6;Q9P202	.;WHRN_HUMAN	W	350	ENSP00000354623:R350W	ENSP00000354623:R350W	R	-	1	2	DFNB31	116228430	0.939000	0.31865	0.977000	0.42913	0.895000	0.52256	5.198000	0.65147	2.361000	0.80049	0.561000	0.74099	CGG		0.587	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2		NM_015404		9	54	0	0	0	1	0	9	54		
TNC	3371	broad.mit.edu	37	9	117826296	117826296	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:117826296G>A	ENST00000350763.4	-	12	3950	c.3539C>T	c.(3538-3540)gCc>gTc	p.A1180V	TNC_ENST00000341037.4_Missense_Mutation_p.A1180V|TNC_ENST00000423613.2_Missense_Mutation_p.A1180V|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1180	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGTTTGAGGGCATCCCAGCC	0.522																																						uc004bjj.3		NaN																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(3538-3540)GCC>GTC		tenascin C precursor							112.0	118.0	116.0					9																	117826296		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117826296G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3539C>T	9.37:g.117826296G>A	ENSP00000265131:p.Ala1180Val					TNC_uc010mvf.2_Missense_Mutation_p.A1180V	p.A1180V	NM_002160	NP_002151	P24821	TENA_HUMAN			12	3901	-			1180			Fibronectin type-III 7.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.3539C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238855	0.79800	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.57436	0.4;0.4;0.4	5.84	5.84	0.93424	Fibronectin, type III (4);	0.374296	0.25663	N	0.029133	T	0.62853	0.2462	L	0.59436	1.845	0.80722	D	1	P;P	0.45768	0.866;0.775	P;B	0.54431	0.752;0.438	T	0.56341	-0.7995	10	0.29301	T	0.29	.	15.6202	0.76799	0.0:0.1771:0.8229:0.0	.	1180;1180	E9PC84;P24821	.;TENA_HUMAN	V	1180	ENSP00000265131:A1180V;ENSP00000339553:A1180V;ENSP00000411406:A1180V	ENSP00000339553:A1180V	A	-	2	0	TNC	116866117	0.995000	0.38212	1.000000	0.80357	0.959000	0.62525	2.055000	0.41345	2.775000	0.95449	0.655000	0.94253	GCC		0.522	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2		NM_002160		45	152	0	0	0	1	0	45	152		
CDK5RAP2	55755	broad.mit.edu	37	9	123182069	123182069	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:123182069G>C	ENST00000349780.4	-	27	4353	c.4174C>G	c.(4174-4176)Caa>Gaa	p.Q1392E	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.Q1392E|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.Q1351E|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.Q1360E	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1392					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGCTTACCTTGAGAAAAACTG	0.373																																						uc004bkf.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(4174-4176)CAA>GAA		CDK5 regulatory subunit associated protein 2							205.0	183.0	191.0					9																	123182069		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123182069G>C	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4174C>G	9.37:g.123182069G>C	ENSP00000343818:p.Gln1392Glu					CDK5RAP2_uc010mvi.2_Missense_Mutation_p.Q401E|CDK5RAP2_uc004bke.2_Missense_Mutation_p.Q677E|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.Q1392E|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc011lya.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Q1162E|CDK5RAP2_uc004bki.2_Missense_Mutation_p.Q1159E	p.Q1392E	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			27	4355	-			1392					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.4174C>G	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107914	0.77096	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.22539	3.92;3.85;3.93;3.83;2.25;1.95	5.62	5.62	0.85841	.	0.119372	0.38217	N	0.001771	T	0.46658	0.1404	M	0.72118	2.19	0.34373	D	0.692212	D;D;D;D;D;D	0.71674	0.99;0.998;0.994;0.996;0.996;0.994	P;D;P;D;P;D	0.77557	0.848;0.946;0.876;0.99;0.883;0.954	T	0.57871	-0.7736	10	0.52906	T	0.07	.	16.3933	0.83546	0.0:0.0:1.0:0.0	.	402;1161;1360;1392;1392;786	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	E	1360;1351;1392;1392;786;402;1164	ENSP00000354065:Q1360E;ENSP00000352258:Q1351E;ENSP00000343818:Q1392E;ENSP00000353317:Q1392E;ENSP00000400395:Q786E;ENSP00000409941:Q402E	ENSP00000341695:Q1164E	Q	-	1	0	CDK5RAP2	122221890	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.911000	0.69939	2.648000	0.89879	0.655000	0.94253	CAA		0.373	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1		NM_018249		16	96	0	0	0	1	0	16	96		
DAB2IP	153090	broad.mit.edu	37	9	124519389	124519389	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:124519389G>C	ENST00000408936.3	+	4	642	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	DAB2IP_ENST00000309989.1_Missense_Mutation_p.E30Q|DAB2IP_ENST00000259371.2_Missense_Mutation_p.E126Q			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	154	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CATGGAGGAAGAGGTGGTCAT	0.637																																						uc004bln.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(376-378)GAG>CAG		disabled homolog 2 interacting protein isoform							152.0	117.0	129.0					9																	124519389		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124519389G>C	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.460G>C	9.37:g.124519389G>C	ENSP00000386183:p.Glu154Gln					DAB2IP_uc004blo.2_Missense_Mutation_p.E30Q	p.E126Q	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			4	445	+			154			PH.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.376G>C		.	.	.	.	.	.	.	.	.	.	G	25.3	4.625481	0.87560	.	.	ENSG00000136848	ENST00000394340;ENST00000436835;ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T;T;T	0.55760	0.91;0.5;2.22;2.21;2.12;2.12	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	L	0.34521	1.04	0.80722	D	1	P	0.45672	0.864	P	0.52909	0.713	T	0.58607	-0.7607	10	0.54805	T	0.06	.	17.4416	0.87566	0.0:0.0:1.0:0.0	.	126	G3XA90	.	Q	126;30;126;154;63;30	ENSP00000377872:E126Q;ENSP00000409327:E30Q;ENSP00000259371:E126Q;ENSP00000386183:E154Q;ENSP00000362887:E63Q;ENSP00000310827:E30Q	ENSP00000259371:E126Q	E	+	1	0	DAB2IP	123559210	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.705000	0.68355	2.528000	0.85240	0.462000	0.41574	GAG		0.637	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1		NM_032552		12	37	0	0	0	1	0	12	37		
FAM102A	399665	broad.mit.edu	37	9	130705511	130705511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:130705511G>C	ENST00000373095.1	-	11	1490	c.1115C>G	c.(1114-1116)tCt>tGt	p.S372C	RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|FAM102A_ENST00000300434.3_5'UTR|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA|RP11-203J24.8_ENST00000415141.2_RNA|FAM102A_ENST00000373084.4_Missense_Mutation_p.S230C	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	372										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GACCCCAGAAGAGACCCTGCA	0.562											OREG0019513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004bsx.1		NaN																	0				ovary(1)	1						c.(1114-1116)TCT>TGT		early estrogen-induced gene 1 protein isoform a							125.0	103.0	110.0					9																	130705511		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130705511G>C		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.1115C>G	9.37:g.130705511G>C	ENSP00000362187:p.Ser372Cys		OREG0019513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1582	FAM102A_uc004bsw.1_Missense_Mutation_p.S230C|FAM102A_uc004bsy.1_3'UTR	p.S372C	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN			11	1194	-			372					A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.1115C>G	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736666	0.89482	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	.	.	.	5.18	5.18	0.71444	.	0.107652	0.64402	D	0.000003	T	0.56396	0.1982	N	0.19112	0.55	0.80722	D	1	D	0.58620	0.983	P	0.52710	0.707	T	0.62671	-0.6805	9	0.72032	D	0.01	-22.6999	17.6001	0.88024	0.0:0.0:1.0:0.0	.	372	Q5T9C2	F102A_HUMAN	C	372;230	.	ENSP00000362176:S230C	S	-	2	0	FAM102A	129745332	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.929000	0.92859	2.571000	0.86741	0.462000	0.41574	TCT		0.562	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2				11	64	0	0	0	1	0	11	64		
ZER1	10444	broad.mit.edu	37	9	131497667	131497667	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:131497667G>C	ENST00000291900.2	-	14	2492	c.2086C>G	c.(2086-2088)Cct>Gct	p.P696A	RP11-545E17.3_ENST00000443631.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	696					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TGGCTGACAGGAGAGATTCCC	0.532																																						uc004bwa.1		NaN																	0				ovary(1)	1						c.(2086-2088)CCT>GCT		zyg-11 homolog B (C. elegans)-like							88.0	76.0	80.0					9																	131497667		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131497667G>C	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.2086C>G	9.37:g.131497667G>C	ENSP00000291900:p.Pro696Ala						p.P696A	NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN			14	2519	-			696					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.2086C>G	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379788	0.82682	.	.	ENSG00000160445	ENST00000291900	T	0.66815	-0.23	5.91	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	M	0.81112	2.525	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.67829	-0.5569	10	0.45353	T	0.12	-6.9879	16.0644	0.80861	0.0:0.1341:0.8659:0.0	.	696	Q7Z7L7	ZER1_HUMAN	A	696	ENSP00000291900:P696A	ENSP00000291900:P696A	P	-	1	0	ZER1	130537488	1.000000	0.71417	0.934000	0.37439	0.997000	0.91878	9.206000	0.95056	1.460000	0.47911	0.655000	0.94253	CCT		0.532	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1		NM_006336		4	28	0	0	0	1	0	4	28		
POMT1	10585	broad.mit.edu	37	9	134381829	134381829	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:134381829G>C	ENST00000372228.3	+	4	448	c.269G>C	c.(268-270)aGa>aCa	p.R90T	POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000419118.2_5'UTR|POMT1_ENST00000354713.4_Missense_Mutation_p.Q54H|POMT1_ENST00000541219.1_Missense_Mutation_p.E8Q|POMT1_ENST00000341012.7_Missense_Mutation_p.R36T|POMT1_ENST00000402686.3_Missense_Mutation_p.R90T|POMT1_ENST00000423007.1_Missense_Mutation_p.R90T	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	90					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGTGGAACAGAATTGGAGCA	0.353																																						uc004cav.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(268-270)AGA>ACA		protein-O-mannosyltransferase 1 isoform a							212.0	212.0	212.0					9																	134381829		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134381829G>C	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.269G>C	9.37:g.134381829G>C	ENSP00000361302:p.Arg90Thr					POMT1_uc011mci.1_Missense_Mutation_p.R90T|POMT1_uc004cax.2_Missense_Mutation_p.R90T|POMT1_uc011mcj.1_Missense_Mutation_p.E8Q|POMT1_uc004cau.2_Missense_Mutation_p.R90T|POMT1_uc004caw.2_Missense_Mutation_p.R36T|POMT1_uc011mck.1_5'UTR|POMT1_uc011mcl.1_5'UTR|POMT1_uc011mcm.1_Missense_Mutation_p.Q54H	p.R90T	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	4	471	+		Myeloproliferative disorder(178;0.204)	90					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.269G>C	CCDS6943.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.66|18.66|18.66	3.671322|3.671322|3.671322	0.67814|0.67814|0.67814	.|.|.	.|.|.	ENSG00000130714|ENSG00000130714|ENSG00000130714	ENST00000541219|ENST00000354713|ENST00000423007;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000418774;ENST00000448212	D|D|D;D;D;D;D;D	0.81739|0.81908|0.85171	-1.53|-1.55|-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.61|5.61|5.61	5.61|5.61|5.61	0.85477|0.85477|0.85477	.|.|Glycosyl transferase, family 39 (1);	.|.|0.047112	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.90287|0.90287|0.90287	0.6962|0.6962|0.6962	L|L|L	0.60067|0.60067|0.60067	1.865|1.865|1.865	0.80722|0.80722|0.80722	D|D|D	1|1|1	P|B|D;P;B	0.47841|0.13145|0.58970	0.901|0.007|0.984;0.717;0.018	P|B|P;P;B	0.46172|0.11329|0.61070	0.506|0.006|0.883;0.639;0.168	D|D|D	0.90803|0.90803|0.90803	0.4695|0.4695|0.4695	9|9|10	0.44086|0.62326|0.72032	T|D|D	0.13|0.03|0.01	-31.8263|-31.8263|-31.8263	18.6338|18.6338|18.6338	0.91370|0.91370|0.91370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	8|54|90;90;90	B4DI80|B4DTW4|B4DWD8;Q9Y6A1;Q9Y6A1-2	.|.|.;POMT1_HUMAN;.	Q|H|T	8|54|90;36;90;90;90;36	ENSP00000440895:E8Q|ENSP00000346748:Q54H|ENSP00000404119:R90T;ENSP00000343034:R36T;ENSP00000361302:R90T;ENSP00000385797:R90T;ENSP00000390737:R90T;ENSP00000403736:R36T	ENSP00000440895:E8Q|ENSP00000346748:Q54H|ENSP00000343034:R36T	E|Q|R	+|+|+	1|3|2	0|2|0	POMT1|POMT1|POMT1	133371650|133371650|133371650	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	5.884000|5.884000|5.884000	0.69729|0.69729|0.69729	2.620000|2.620000|2.620000	0.88729|0.88729|0.88729	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|CAG|AGA		0.353	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1		NM_007171		37	146	0	0	0	1	0	37	146		
CEL	1056	broad.mit.edu	37	9	135940563	135940563	+	Silent	SNP	C	C	T	rs572853045	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:135940563C>T	ENST00000372080.4	+	4	502	c.486C>T	c.(484-486)gtC>gtT	p.V162V	CEL_ENST00000351304.7_Silent_p.V159V	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	159					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCATCGTGGTCACCTTCAACT	0.642																																						uc010naa.1		NaN																	0				pancreas(1)	1						c.(484-486)GTC>GTT		carboxyl ester lipase precursor							172.0	185.0	180.0					9																	135940563		2152	4254	6406	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135940563C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.486C>T	9.37:g.135940563C>T							p.V162V	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	4	502	+			159					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.486C>T	CCDS43896.1																																																																																				0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1				42	201	0	0	0	1	0	42	201		
CEL	1056	broad.mit.edu	37	9	135947125	135947125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:135947125C>T	ENST00000372080.4	+	11	2261	c.2245C>T	c.(2245-2247)Cag>Tag	p.Q749*	CEL_ENST00000351304.7_Nonsense_Mutation_p.Q680*	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	746					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAAGGAAGCTCAGATGCCTGC	0.647																																						uc010naa.1		NaN																	0				pancreas(1)	1						c.(2245-2247)CAG>TAG		carboxyl ester lipase precursor							19.0	22.0	21.0					9																	135947125		1865	4082	5947	SO:0001587	stop_gained	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135947125C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2245C>T	9.37:g.135947125C>T	ENSP00000361151:p.Gln749*						p.Q749*	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	2261	+			746					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Nonsense_Mutation	SNP	ENST00000372080.4	37	c.2245C>T	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.998714	0.93227	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	.	.	.	3.11	2.21	0.28008	.	0.735594	0.11715	N	0.536474	.	.	.	.	.	.	0.36478	D	0.867687	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.2697	0.15618	0.0:0.7386:0.0:0.2614	.	.	.	.	X	749;680;715	.	ENSP00000304021:Q715X	Q	+	1	0	CEL	134936946	0.023000	0.18921	0.891000	0.34965	0.140000	0.21249	0.884000	0.28214	0.890000	0.36211	0.460000	0.39030	CAG		0.647	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1				5	38	0	0	0	1	0	5	38		
ADAMTS13	11093	broad.mit.edu	37	9	136324273	136324273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:136324273C>T	ENST00000371929.3	+	29	4699	c.4255C>T	c.(4255-4257)Cag>Tag	p.Q1419*	ADAMTS13_ENST00000355699.2_Nonsense_Mutation_p.Q1363*|ADAMTS13_ENST00000356589.2_Nonsense_Mutation_p.Q1332*|CACFD1_ENST00000291722.7_5'Flank|CACFD1_ENST00000540581.1_5'Flank|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Nonsense_Mutation_p.Q215*|ADAMTS13_ENST00000485925.1_3'UTR|CACFD1_ENST00000542192.1_5'Flank|CACFD1_ENST00000316948.4_5'Flank	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1419	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCAGGACCCTCAGTCCTGGAA	0.587																																						uc004cdv.3		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(4255-4257)CAG>TAG		ADAM metallopeptidase with thrombospondin type 1							38.0	35.0	36.0					9																	136324273		2199	4300	6499	SO:0001587	stop_gained	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136324273C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4255C>T	9.37:g.136324273C>T	ENSP00000360997:p.Gln1419*					ADAMTS13_uc004cdp.3_3'UTR|ADAMTS13_uc004cdt.1_Nonsense_Mutation_p.Q1363*|ADAMTS13_uc004cdu.1_Nonsense_Mutation_p.Q1332*|ADAMTS13_uc004cdw.3_Nonsense_Mutation_p.Q1363*|ADAMTS13_uc004cdx.3_Nonsense_Mutation_p.Q1332*|ADAMTS13_uc004cdz.3_Nonsense_Mutation_p.Q1089*|ADAMTS13_uc004ceb.3_Nonsense_Mutation_p.Q215*|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	p.Q1419*	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	29	4699	+			1419			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Nonsense_Mutation	SNP	ENST00000371929.3	37	c.4255C>T	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	39	7.753566	0.98471	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000371910	.	.	.	3.36	-6.72	0.01755	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.1461	0.03788	0.1614:0.4016:0.0975:0.3395	.	.	.	.	X	1419;1363;1332;215	.	ENSP00000347927:Q1363X	Q	+	1	0	ADAMTS13	135314094	0.000000	0.05858	0.000000	0.03702	0.377000	0.30045	-0.091000	0.11146	-2.397000	0.00581	-0.237000	0.12165	CAG		0.587	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1		NM_139025		7	15	0	0	0	1	0	7	15		
COL5A1	1289	broad.mit.edu	37	9	137704502	137704502	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:137704502G>A	ENST00000371817.3	+	48	4210	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1266	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCCAGGTGCTGATGGCCCACA	0.622																																						uc004cfe.2		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(3796-3798)GAT>AAT		alpha 1 type V collagen preproprotein							29.0	27.0	28.0					9																	137704502		2201	4299	6500	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137704502G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3796G>A	9.37:g.137704502G>A	ENSP00000360882:p.Asp1266Asn						p.D1266N	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	48	4178	+		Myeloproliferative disorder(178;0.0341)	1266			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3796G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599654	0.66332	.	.	ENSG00000130635	ENST00000371817	D	0.93307	-3.2	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	D	0.94142	0.8121	N	0.25380	0.74	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.94859	0.8020	10	0.52906	T	0.07	.	17.7817	0.88526	0.0:0.0:1.0:0.0	.	1266	P20908	CO5A1_HUMAN	N	1266	ENSP00000360882:D1266N	ENSP00000360882:D1266N	D	+	1	0	COL5A1	136844323	1.000000	0.71417	0.641000	0.29422	0.500000	0.33767	9.381000	0.97205	2.200000	0.70718	0.643000	0.83706	GAT		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		6	7	0	0	0	1	0	6	7		
LHX3	8022	broad.mit.edu	37	9	139090634	139090634	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139090634C>T	ENST00000371748.5	-	5	735	c.639G>A	c.(637-639)aaG>aaA	p.K213K	LHX3_ENST00000371746.3_Silent_p.K218K	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	213					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TCTTCAGCCTCTTCTCCTTGG	0.721																																						uc004cha.2		NaN																	0				skin(1)	1						c.(637-639)AAG>AAA		LIM homeobox protein 3 isoform a							17.0	22.0	20.0					9																	139090634		2152	4209	6361	SO:0001819	synonymous_variant	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139090634C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.639G>A	9.37:g.139090634C>T						LHX3_uc004cgz.2_Silent_p.K218K	p.K213K	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	5	736	-		Myeloproliferative disorder(178;0.0511)	213			Homeobox.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Silent	SNP	ENST00000371748.5	37	c.639G>A	CCDS6994.1																																																																																				0.721	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3				7	24	0	0	0	1	0	7	24		
FBXW5	54461	broad.mit.edu	37	9	139836636	139836636	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139836636C>G	ENST00000325285.3	-	6	1037	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	320					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGCATGCGCTCCGACAGCTGT	0.697																																						uc004cjx.2		NaN																	0					0						c.(958-960)GAG>CAG		F-box and WD repeat domain containing 5							45.0	50.0	48.0					9																	139836636		2183	4288	6471	SO:0001583	missense	54461						catalytic activity|protein binding	g.chr9:139836636C>G	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.958G>C	9.37:g.139836636C>G	ENSP00000313034:p.Glu320Gln					FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.E68Q|FBXW5_uc004cjz.2_Missense_Mutation_p.E68Q	p.E320Q	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	6	1109	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	320					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	c.958G>C	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556173	0.27827	.	.	ENSG00000159069	ENST00000325285;ENST00000433269	T;T	0.80566	-1.39;0.41	4.6	4.6	0.57074	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.160901	0.53938	D	0.000043	D	0.82706	0.5095	M	0.67953	2.075	0.43642	D	0.996041	P;P	0.48589	0.912;0.912	P;P	0.49012	0.598;0.598	T	0.80209	-0.1477	10	0.18276	T	0.48	-9.8178	17.6041	0.88033	0.0:1.0:0.0:0.0	.	185;320	Q59ET5;Q969U6	.;FBXW5_HUMAN	Q	320;155	ENSP00000313034:E320Q;ENSP00000409102:E155Q	ENSP00000313034:E320Q	E	-	1	0	FBXW5	138956457	0.003000	0.15002	0.050000	0.19076	0.004000	0.04260	1.798000	0.38814	2.382000	0.81193	0.561000	0.74099	GAG		0.697	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1		NM_018998		4	5	0	0	0	1	0	4	5		
MAN1B1	11253	broad.mit.edu	37	9	139982608	139982608	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139982608T>A	ENST00000371589.4	+	2	374	c.301T>A	c.(301-303)Tac>Aac	p.Y101N	MAN1B1_ENST00000474902.1_5'Flank|AL807752.1_ENST00000596585.1_5'Flank	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	101					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ACTCCTCTTCTACATCAACTT	0.438																																						uc004cld.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(301-303)TAC>AAC		alpha 1,2-mannosidase							300.0	243.0	263.0					9																	139982608		2203	4300	6503	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139982608T>A	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.301T>A	9.37:g.139982608T>A	ENSP00000360645:p.Tyr101Asn					MAN1B1_uc004clc.2_5'UTR|MAN1B1_uc011meo.1_5'UTR|MAN1B1_uc011mep.1_Missense_Mutation_p.Y101N|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank	p.Y101N	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	2	336	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	101			Helical; Signal-anchor for type II membrane protein; (Potential).		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.301T>A	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.106249|4.106249	0.77096|0.77096	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000535144;ENST00000542372|ENST00000371589	.|T	.|0.21543	.|2.0	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|.	.|.	.|.	.|.	T|T	0.19046|0.19046	0.0457|0.0457	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|P	.|0.50272	.|0.933	.|B	.|0.39706	.|0.307	T|T	0.02320|0.02320	-1.1177|-1.1177	5|8	.|.	.|.	.|.	.|.	12.6048|12.6048	0.56516|0.56516	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|101	.|Q9UKM7	.|MA1B1_HUMAN	Q|N	74;73|101	.|ENSP00000360645:Y101N	.|.	L|Y	+|+	2|1	0|0	MAN1B1|MAN1B1	139102429|139102429	0.998000|0.998000	0.40836|0.40836	0.064000|0.064000	0.19789|0.19789	0.784000|0.784000	0.44337|0.44337	5.570000|5.570000	0.67398|0.67398	1.909000|1.909000	0.55274|0.55274	0.533000|0.533000	0.62120|0.62120	CTA|TAC		0.438	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2		NM_016219		17	118	0	0	0	1	0	17	118		
ARSH	347527	broad.mit.edu	37	X	2942120	2942120	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:2942120C>A	ENST00000381130.2	+	6	960	c.960C>A	c.(958-960)ttC>ttA	p.F320L		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	320					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGTGTACTTCACCTCTGACA	0.577																																						uc011mhj.1		NaN																	0				lung(1)	1						c.(958-960)TTC>TTA		arylsulfatase family, member H							49.0	46.0	47.0					X																	2942120		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2942120C>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.960C>A	X.37:g.2942120C>A	ENSP00000370522:p.Phe320Leu						p.F320L	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			6	960	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	320						Missense_Mutation	SNP	ENST00000381130.2	37	c.960C>A	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018352	0.54576	.	.	ENSG00000205667	ENST00000381130	D	0.99014	-5.33	3.79	-1.35	0.09114	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.98890	0.9624	M	0.82716	2.605	0.35468	D	0.797082	D	0.89917	1.0	D	0.97110	1.0	D	0.98844	1.0756	10	0.42905	T	0.14	.	8.8227	0.35036	0.0:0.2059:0.0:0.7941	.	320	Q5FYA8	ARSH_HUMAN	L	320	ENSP00000370522:F320L	ENSP00000370522:F320L	F	+	3	2	ARSH	2952120	0.991000	0.36638	0.524000	0.27887	0.653000	0.38743	0.072000	0.14617	-0.276000	0.09206	0.583000	0.79449	TTC		0.577	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1		NM_001011719		11	48	1	0	7.03913e-09	1	7.6857e-09	11	48		
ARSF	416	broad.mit.edu	37	X	3002382	3002382	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:3002382C>G	ENST00000381127.1	+	6	726	c.505C>G	c.(505-507)Ctc>Gtc	p.L169V	ARSF_ENST00000359361.2_Missense_Mutation_p.L169V|ARSF_ENST00000537104.1_Missense_Mutation_p.L169V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	169					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGTTCACTCTCGTTGACAG	0.527																																						uc004cre.1		NaN																	0				ovary(2)	2						c.(505-507)CTC>GTC		arylsulfatase F precursor							149.0	113.0	125.0					X																	3002382		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002382C>G	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.505C>G	X.37:g.3002382C>G	ENSP00000370519:p.Leu169Val					ARSF_uc004crf.1_Missense_Mutation_p.L169V	p.L169V	NM_004042	NP_004033	P54793	ARSF_HUMAN			6	726	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	169					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.505C>G	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982274	0.34942	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98585	-5.01;-5.01;-5.01	3.44	3.44	0.39384	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.080716	0.51477	U	0.000096	D	0.97539	0.9194	M	0.82323	2.585	0.09310	N	0.999999	P	0.43231	0.801	P	0.46419	0.516	D	0.92785	0.6243	10	0.16896	T	0.51	.	10.7272	0.46074	0.1912:0.8088:0.0:0.0	.	169	P54793	ARSF_HUMAN	V	169	ENSP00000370519:L169V;ENSP00000445594:L169V;ENSP00000352319:L169V	ENSP00000352319:L169V	L	+	1	0	ARSF	3012382	0.006000	0.16342	0.003000	0.11579	0.003000	0.03518	0.438000	0.21559	1.331000	0.45412	0.540000	0.68198	CTC		0.527	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1				52	90	0	0	0	1	0	52	90		
PRKX	5613	broad.mit.edu	37	X	3530357	3530357	+	Missense_Mutation	SNP	C	C	T	rs139150166	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:3530357C>T	ENST00000262848.5	-	8	1315	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	321	AGC-kinase C-terminal.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ATCTTGGGCACGATGGGAGGC	0.537													C|||	1	0.000264901	0.0008	0.0	3775	,	,		13263	0.0		0.0	False		,,,				2504	0.0					uc010nde.2		NaN																	0				skin(2)|lung(1)	3						c.(961-963)GTG>ATG		protein kinase, X-linked		C	MET/VAL	6,3829		0,4,2,1628,569	57.0	40.0	45.0		961	1.7	0.1	X	dbSNP_134	45	0,6728		0,0,0,2428,1872	yes	missense	PRKX	NM_005044.4	21	0,4,2,4056,2441	TT,TC,T,CC,C		0.0,0.1565,0.0568	possibly-damaging	321/359	3530357	6,10557	2203	4300	6503	SO:0001583	missense	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3530357C>T		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.961G>A	X.37:g.3530357C>T	ENSP00000262848:p.Val321Met						p.V321M	NM_005044	NP_005035	P51817	PRKX_HUMAN			8	1328	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	321			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000262848.5	37	c.961G>A	CCDS14125.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.588	1.125300	0.20959	0.001565	0.0	ENSG00000183943	ENST00000262848	T	0.08634	3.07	3.53	1.66	0.24008	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.387780	0.26696	N	0.022968	T	0.13586	0.0329	M	0.86097	2.795	0.35669	D	0.813151	D	0.53745	0.962	P	0.45639	0.488	T	0.11470	-1.0586	10	0.59425	D	0.04	-21.9601	3.8112	0.08798	0.1922:0.5883:0.0:0.2195	.	321	P51817	PRKX_HUMAN	M	321	ENSP00000262848:V321M	ENSP00000262848:V321M	V	-	1	0	PRKX	3540357	1.000000	0.71417	0.064000	0.19789	0.100000	0.18952	1.381000	0.34362	0.054000	0.16065	0.600000	0.82982	GTG		0.537	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1		NM_005044		5	31	0	0	0	1	0	5	31		
EGFL6	25975	broad.mit.edu	37	X	13635940	13635940	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:13635940G>T	ENST00000361306.1	+	8	1127	c.870G>T	c.(868-870)atG>atT	p.M290I	EGFL6_ENST00000380602.3_Missense_Mutation_p.M290I	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	290					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAACAGCATGAAAAAGAAGG	0.418																																						uc004cvi.2		NaN																	0				breast(2)	2						c.(868-870)ATG>ATT		epidermal growth factor-like protein 6							99.0	99.0	99.0					X																	13635940		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13635940G>T	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.870G>T	X.37:g.13635940G>T	ENSP00000355126:p.Met290Ile					EGFL6_uc004cvj.2_Missense_Mutation_p.M290I|EGFL6_uc011mik.1_Missense_Mutation_p.M191I	p.M290I	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN			8	1110	+			290					B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.870G>T	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060722	0.36373	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.69306	-0.39;-0.28	5.68	2.47	0.30058	.	0.762779	0.13392	N	0.391311	T	0.58509	0.2127	M	0.63428	1.95	0.26239	N	0.97891	B;B	0.23540	0.002;0.087	B;B	0.15052	0.003;0.012	T	0.45323	-0.9269	10	0.21540	T	0.41	.	8.6373	0.33957	0.1567:0.0:0.7159:0.1274	.	290;290	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	I	290	ENSP00000355126:M290I;ENSP00000369976:M290I	ENSP00000355126:M290I	M	+	3	0	EGFL6	13545861	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	1.493000	0.35605	0.556000	0.29098	-0.253000	0.11424	ATG		0.418	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1		NM_015507		68	117	1	0	1.31171e-36	1	1.52327e-36	68	117		
ACE2	59272	broad.mit.edu	37	X	15591524	15591524	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:15591524G>A	ENST00000252519.3	-	11	1609	c.1507C>T	c.(1507-1509)Ctg>Ttg	p.L503L	ACE2_ENST00000427411.1_Silent_p.L503L			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	503					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	ACATGGAACAGAGATGCGGGG	0.423																																						uc004cxa.1		NaN																	0				ovary(3)	3						c.(1507-1509)CTG>TTG		angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)						174.0	151.0	159.0					X																	15591524		2203	4300	6503	SO:0001819	synonymous_variant	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15591524G>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1507C>T	X.37:g.15591524G>A						ACE2_uc004cxb.2_Silent_p.L503L	p.L503L	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			11	1675	-	Hepatocellular(33;0.183)		503			Extracellular (Potential).		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Silent	SNP	ENST00000252519.3	37	c.1507C>T	CCDS14169.1																																																																																				0.423	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1				53	135	0	0	0	1	0	53	135		
REPS2	9185	broad.mit.edu	37	X	17080621	17080621	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:17080621C>T	ENST00000357277.3	+	9	1346	c.1175C>T	c.(1174-1176)gCa>gTa	p.A392V	REPS2_ENST00000303843.7_Missense_Mutation_p.A391V|REPS2_ENST00000380064.4_Missense_Mutation_p.A252V	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	392					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TCACTGCCGGCAAATCAACAA	0.358																																						uc004cxv.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1174-1176)GCA>GTA		RALBP1 associated Eps domain containing 2							127.0	108.0	115.0					X																	17080621		2203	4300	6503	SO:0001583	missense	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17080621C>T	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1175C>T	X.37:g.17080621C>T	ENSP00000349824:p.Ala392Val					REPS2_uc004cxw.1_Missense_Mutation_p.A391V|REPS2_uc011miw.1_Missense_Mutation_p.A251V	p.A392V	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN			9	1346	+	Hepatocellular(33;0.183)		392					A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	c.1175C>T	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719693	0.30503	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.33216	1.43;1.42;1.43	5.62	2.47	0.30058	.	0.323877	0.25820	N	0.028089	T	0.15176	0.0366	N	0.17474	0.49	0.21416	N	0.999698	B;B;B	0.12630	0.0;0.006;0.003	B;B;B	0.12156	0.001;0.007;0.002	T	0.11324	-1.0592	10	0.33141	T	0.24	-1.025	4.5241	0.11973	0.0:0.4134:0.4244:0.1621	.	252;391;392	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	V	392;392;391;252	ENSP00000349824:A392V;ENSP00000306033:A391V;ENSP00000369404:A252V	ENSP00000306033:A391V	A	+	2	0	REPS2	16990542	0.996000	0.38824	0.459000	0.27081	0.876000	0.50452	0.297000	0.19101	1.125000	0.41998	0.544000	0.68410	GCA		0.358	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1		NM_004726		18	60	0	0	0	1	0	18	60		
PHKA2	5256	broad.mit.edu	37	X	18913260	18913260	+	Missense_Mutation	SNP	C	C	T	rs374245493		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:18913260C>T	ENST00000379942.4	-	31	3997	c.3332G>A	c.(3331-3333)cGa>cAa	p.R1111Q	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1111			R -> RTR (in GSD9A; type 2).		carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R1111Q(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCGTACCTCTCGGGTCGTCGA	0.532																																						uc004cyv.3		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(1)|central_nervous_system(1)	2						c.(3331-3333)CGA>CAA		phosphorylase kinase, alpha 2 (liver)		C	GLN/ARG	1,3834		0,0,1,1632,570	156.0	141.0	146.0		3332	-1.3	0.0	X		146	0,6728		0,0,0,2428,1872	no	missense	PHKA2	NM_000292.2	43	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	benign	1111/1236	18913260	1,10562	2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18913260C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3332G>A	X.37:g.18913260C>T	ENSP00000369274:p.Arg1111Gln					PHKA2_uc004cyu.3_Missense_Mutation_p.R417Q|PHKA2_uc010nfe.1_Missense_Mutation_p.R143Q|PHKA2_uc010nff.1_RNA	p.R1111Q	NM_000292	NP_000283	P46019	KPB2_HUMAN			31	3762	-	Hepatocellular(33;0.183)		1111		R -> RTR (in GSD9A; type 2).			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3332G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	6.795	0.515757	0.12944	2.61E-4	0.0	ENSG00000044446	ENST00000379942	D	0.94828	-3.53	5.81	-1.28	0.09318	.	0.216463	0.46758	N	0.000268	D	0.87653	0.6231	L	0.41906	1.305	0.44880	D	0.99789	B	0.10296	0.003	B	0.06405	0.002	T	0.72988	-0.4124	10	0.06236	T	0.91	0.0475	11.1006	0.48172	0.0:0.5462:0.0:0.4538	.	1111	P46019	KPB2_HUMAN	Q	1111	ENSP00000369274:R1111Q	ENSP00000369274:R1111Q	R	-	2	0	PHKA2	18823181	0.982000	0.34865	0.027000	0.17364	0.364000	0.29643	1.074000	0.30703	-0.738000	0.04817	-0.912000	0.02778	CGA		0.532	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1		NM_000292		45	131	0	0	0	1	0	45	131		
EIF2S3	1968	broad.mit.edu	37	X	24086216	24086216	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:24086216G>A	ENST00000253039.4	+	9	1256	c.1003G>A	c.(1003-1005)Ggt>Agt	p.G335S		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	335					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TGCTCCAGGCGGTCTTATTGG	0.363																																						uc004dbc.2		NaN																	0				lung(1)	1						c.(1003-1005)GGT>AGT		eukaryotic translation initiation factor 2,							82.0	73.0	76.0					X																	24086216		2203	4300	6503	SO:0001583	missense	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24086216G>A	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.1003G>A	X.37:g.24086216G>A	ENSP00000253039:p.Gly335Ser						p.G335S	NM_001415	NP_001406	P41091	IF2G_HUMAN			9	1024	+			335					B5BTZ4	Missense_Mutation	SNP	ENST00000253039.4	37	c.1003G>A	CCDS14210.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853751	0.71719	.	.	ENSG00000130741	ENST00000253039	T	0.63913	-0.07	5.24	5.24	0.73138	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.90082	3.085	0.80722	D	1	P	0.47762	0.9	P	0.50440	0.641	D	0.83724	0.0194	10	0.72032	D	0.01	.	18.115	0.89552	0.0:0.0:1.0:0.0	.	335	P41091	IF2G_HUMAN	S	335	ENSP00000253039:G335S	ENSP00000253039:G335S	G	+	1	0	EIF2S3	23996137	1.000000	0.71417	0.978000	0.43139	0.691000	0.40173	7.483000	0.81158	2.301000	0.77427	0.513000	0.50165	GGT		0.363	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1		NM_001415		24	63	0	0	0	1	0	24	63		
TAB3	257397	broad.mit.edu	37	X	30873150	30873150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:30873150C>G	ENST00000378933.1	-	3	809	c.632G>C	c.(631-633)aGa>aCa	p.R211T	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Missense_Mutation_p.R211T|TAB3_ENST00000288422.2_Missense_Mutation_p.R211T|TAB3_ENST00000378930.3_Missense_Mutation_p.R211T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	211	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTGTAAAGCTCTTGGTACAGT	0.423																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2		NaN																	0				ovary(1)	1						c.(631-633)AGA>ACA		mitogen-activated protein kinase kinase kinase 7							72.0	65.0	67.0					X																	30873150		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873150C>G	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.632G>C	X.37:g.30873150C>G	ENSP00000368215:p.Arg211Thr					TAB3_uc004dck.2_Missense_Mutation_p.R211T|TAB3_uc010ngl.2_Missense_Mutation_p.R211T	p.R211T	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	1295	-			211			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.632G>C	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745992	0.30955	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.31	5.31	0.75309	.	0.054056	0.85682	D	0.000000	T	0.57344	0.2047	N	0.12182	0.205	0.42964	D	0.994416	D;P	0.54964	0.969;0.948	P;P	0.53313	0.723;0.533	T	0.55976	-0.8055	10	0.02654	T	1	-3.4317	18.1332	0.89608	0.0:1.0:0.0:0.0	.	211;211	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	T	211	ENSP00000368215:R211T;ENSP00000368212:R211T;ENSP00000288422:R211T;ENSP00000368214:R211T	ENSP00000288422:R211T	R	-	2	0	TAB3	30783071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.208000	0.65203	2.219000	0.72066	0.600000	0.82982	AGA		0.423	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1		NM_152787		25	52	0	0	0	1	0	25	52		
ATP6AP2	10159	broad.mit.edu	37	X	40460059	40460059	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:40460059G>C	ENST00000378438.4	+	8	942	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.E230Q|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.E184Q|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.E186Q	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	262					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						TGCAGTGGTAGAGTTAGTCAC	0.378																																						uc004det.2		NaN																	0					0						c.(784-786)GAG>CAG		ATPase, H+ transporting, lysosomal accessory							134.0	102.0	113.0					X																	40460059		2203	4300	6503	SO:0001583	missense	10159				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	g.chrX:40460059G>C	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.784G>C	X.37:g.40460059G>C	ENSP00000367697:p.Glu262Gln					ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.E186Q|ATP6AP2_uc011mkm.1_Missense_Mutation_p.E230Q|ATP6AP2_uc011mkn.1_Missense_Mutation_p.E184Q|ATP6AP2_uc004deu.1_Missense_Mutation_p.E127Q	p.E262Q	NM_005765	NP_005756	O75787	RENR_HUMAN			8	886	+			262			Extracellular (Potential).		B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	ENST00000378438.4	37	c.784G>C	CCDS14252.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.1|26.1|26.1	4.700929|4.700929|4.700929	0.88924|0.88924|0.88924	.|.|.	.|.|.	ENSG00000182220|ENSG00000182220|ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000544975;ENST00000535777|ENST00000423649|ENST00000447485	T;T;T;T|.|.	0.50548|.|.	0.74;0.74;0.74;0.74|.|.	5.33|5.33|5.33	5.33|5.33|5.33	0.75918|0.75918|0.75918	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.76572|0.76572|.	0.4006|0.4006|.	M|M|M	0.76002|0.76002|0.76002	2.32|2.32|2.32	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;D;D;D|.|.	0.89917|.|.	0.953;1.0;0.99;0.99|.|.	P;D;D;D|.|.	0.91635|.|.	0.892;0.999;0.95;0.933|.|.	T|T|.	0.77075|0.77075|.	-0.2722|-0.2722|.	10|5|.	0.30078|.|.	T|.|.	0.28|.|.	-10.8271|-10.8271|-10.8271	18.1508|18.1508|18.1508	0.89674|0.89674|0.89674	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	184;230;186;262|.|.	B7Z1I9;B7Z9I3;B7Z413;O75787|.|.	.;.;.;RENR_HUMAN|.|.	Q|T|Y	230;262;186;184|202|236	ENSP00000438415:E230Q;ENSP00000367697:E262Q;ENSP00000440459:E186Q;ENSP00000441536:E184Q|.|.	ENSP00000367697:E262Q|.|.	E|R|X	+|+|+	1|2|3	0|0|2	ATP6AP2|ATP6AP2|ATP6AP2	40345003|40345003|40345003	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.982000|0.982000|0.982000	0.44146|0.44146|0.44146	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	9.199000|9.199000|9.199000	0.95003|0.95003|0.95003	2.223000|2.223000|2.223000	0.72356|0.72356|0.72356	0.513000|0.513000|0.513000	0.50165|0.50165|0.50165	GAG|AGA|TAG		0.378	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1		NM_005765		19	68	0	0	0	1	0	19	68		
USP9X	8239	broad.mit.edu	37	X	41010204	41010204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:41010204G>C	ENST00000324545.8	+	13	2290	c.1657G>C	c.(1657-1659)Gat>Cat	p.D553H	USP9X_ENST00000378308.2_Missense_Mutation_p.D553H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	553					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCAATGGATAGATCGCTTTAT	0.318																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NaN																	0				lung(3)|breast(2)|ovary(1)	6						c.(1657-1659)GAT>CAT		ubiquitin specific protease 9, X-linked isoform							47.0	42.0	44.0					X																	41010204		2157	4273	6430	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41010204G>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1657G>C	X.37:g.41010204G>C	ENSP00000316357:p.Asp553His					USP9X_uc004dfc.2_Missense_Mutation_p.D553H	p.D553H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			13	2290	+			553					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.1657G>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175055	0.57692	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03330	3.98;3.97	5.19	5.19	0.71726	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.00470	-1.1720	10	0.48119	T	0.1	.	17.8627	0.88786	0.0:0.0:1.0:0.0	.	553;553	Q93008-1;Q93008	.;USP9X_HUMAN	H	553	ENSP00000367558:D553H;ENSP00000316357:D553H	ENSP00000316357:D553H	D	+	1	0	USP9X	40895148	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.357000	0.97099	2.151000	0.67156	0.468000	0.43344	GAT		0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4		NM_004652		5	20	0	0	0	1	0	5	20		
ZNF157	7712	broad.mit.edu	37	X	47270104	47270104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:47270104G>A	ENST00000377073.3	+	3	311	c.225G>A	c.(223-225)atG>atA	p.M75I		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AACCAGAGATGATCTTCAAGT	0.527																																						uc004dhr.1		NaN																	0					0						c.(223-225)ATG>ATA		zinc finger protein 157							70.0	53.0	59.0					X																	47270104		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47270104G>A	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.225G>A	X.37:g.47270104G>A	ENSP00000366273:p.Met75Ile						p.M75I	NM_003446	NP_003437	P51786	ZN157_HUMAN			3	294	+			75			KRAB.		Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.225G>A	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907448	0.33721	.	.	ENSG00000147117	ENST00000377073	T	0.00711	5.8	3.12	3.12	0.35913	Krueppel-associated box (3);	.	.	.	.	T	0.00468	0.0015	N	0.02539	-0.55	0.24075	N	0.995965	B	0.18741	0.03	B	0.12837	0.008	T	0.48068	-0.9067	9	0.44086	T	0.13	.	6.8522	0.24020	0.0:0.0:0.7246:0.2753	.	75	P51786	ZN157_HUMAN	I	75	ENSP00000366273:M75I	ENSP00000366273:M75I	M	+	3	0	ZNF157	47155048	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.735000	0.26115	1.825000	0.53177	0.500000	0.49745	ATG		0.527	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1		NM_003446		5	9	0	0	0	1	0	5	9		
ZNF41	7592	broad.mit.edu	37	X	47307918	47307918	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:47307918C>T	ENST00000377065.4	-	5	1890	c.1251G>A	c.(1249-1251)ggG>ggA	p.G417G	ZNF41_ENST00000313116.7_Silent_p.G417G|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Silent_p.G427G	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGAAAGCCTTCCCACATTCAT	0.453																																						uc004dhs.3		NaN																	0				ovary(3)	3						c.(1375-1377)GGG>GGA		zinc finger protein 41							119.0	108.0	112.0					X																	47307918		2203	4299	6502	SO:0001819	synonymous_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307918C>T	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1251G>A	X.37:g.47307918C>T						ZNF41_uc004dhu.3_Silent_p.G451G|ZNF41_uc004dht.3_Silent_p.G331G|ZNF41_uc004dhv.3_Silent_p.G427G|ZNF41_uc004dhw.3_Silent_p.G419G|ZNF41_uc004dhy.3_Silent_p.G417G|ZNF41_uc004dhx.3_Silent_p.G417G|ZNF41_uc011mlm.1_Silent_p.G331G	p.G459G	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	1444	-		all_lung(315;0.000129)	459			C2H2-type 6.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	ENST00000377065.4	37	c.1377G>A	CCDS14279.1																																																																																				0.453	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1		NM_153380		16	129	0	0	0	1	0	16	129		
FTSJ1	24140	broad.mit.edu	37	X	48340027	48340027	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48340027C>T	ENST00000348411.2	+	9	902	c.579C>T	c.(577-579)ttC>ttT	p.F193F	FTSJ1_ENST00000396894.4_Silent_p.F56F|FTSJ1_ENST00000456787.1_Silent_p.F193F|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000019019.2_Silent_p.F193F	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CAGAGGCCTTCGCTGTCTGTC	0.647																																						uc004djo.1		NaN																	0					0						c.(577-579)TTC>TTT		FtsJ homolog 1 isoform a							49.0	36.0	41.0					X																	48340027		2203	4300	6503	SO:0001819	synonymous_variant	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48340027C>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.579C>T	X.37:g.48340027C>T						FTSJ1_uc004djl.2_Silent_p.F193F|FTSJ1_uc004djm.2_Silent_p.F193F|FTSJ1_uc004djn.1_Silent_p.F193F|FTSJ1_uc004djp.1_Silent_p.F193F|FTSJ1_uc011mlw.1_Silent_p.F56F	p.F193F	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN			9	902	+			193						Silent	SNP	ENST00000348411.2	37	c.579C>T	CCDS14294.1																																																																																				0.647	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1				7	19	0	0	0	1	0	7	19		
GRIPAP1	56850	broad.mit.edu	37	X	48837884	48837884	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48837884C>T	ENST00000376441.1	-	20	1808	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	GRIPAP1_ENST00000376425.3_Splice_Site_p.E561K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Splice_Site_p.E547K|GRIPAP1_ENST00000376423.4_Splice_Site_p.E513K	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	592						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TCCTTCACCTCCTGTGGGAGA	0.612																																						uc004dly.1		NaN																	0				breast(2)|kidney(1)	3						c.(1774-1776)GAG>AAG		GRIP1 associated protein 1 isoform 1							85.0	56.0	66.0					X																	48837884		2203	4300	6503	SO:0001630	splice_region_variant	56850					early endosome		g.chrX:48837884C>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1774-1G>A	X.37:g.48837884C>T						GRIPAP1_uc004dlz.2_Missense_Mutation_p.E482K|GRIPAP1_uc004dma.2_Missense_Mutation_p.E513K	p.E592K	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			20	1809	-			592			Potential.		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.1774G>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.982521	0.74474	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T	0.53206	0.63	4.68	3.82	0.43975	.	0.208186	0.40064	N	0.001183	T	0.61739	0.2371	M	0.68593	2.085	0.41689	D	0.989339	D;D;P	0.76494	0.999;0.997;0.932	D;P;P	0.68483	0.958;0.879;0.655	T	0.62338	-0.6875	10	0.52906	T	0.07	-19.7928	9.2599	0.37605	0.0:0.895:0.0:0.105	.	513;482;592	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	K	561;547;592;561;513	ENSP00000365608:E561K	ENSP00000365606:E513K	E	-	1	0	GRIPAP1	48722828	1.000000	0.71417	0.960000	0.40013	0.633000	0.38033	5.174000	0.65015	0.981000	0.38548	0.462000	0.41574	GAG		0.612	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2		NM_207672	Missense_Mutation	4	29	0	0	0	1	0	4	29		
WDR45	11152	broad.mit.edu	37	X	48933303	48933303	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48933303G>C	ENST00000376372.3	-	8	807	c.626C>G	c.(625-627)tCa>tGa	p.S209*	WDR45_ENST00000485908.1_Nonsense_Mutation_p.S174*|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000491199.1_5'Flank|PRAF2_ENST00000376390.4_5'Flank|AF196779.12_ENST00000376358.3_Nonsense_Mutation_p.S107*|WDR45_ENST00000553851.1_Nonsense_Mutation_p.S107*|WDR45_ENST00000322995.8_Nonsense_Mutation_p.S220*|WDR45_ENST00000356463.3_Nonsense_Mutation_p.S210*|WDR45_ENST00000473974.1_Nonsense_Mutation_p.S209*|WDR45_ENST00000376368.2_Nonsense_Mutation_p.S210*|WDR45_ENST00000396681.4_Nonsense_Mutation_p.S209*	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	209					autophagy (GO:0006914)|cell death (GO:0008219)			p.S210*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTGGGAGGCTGAGGCCACTAC	0.557																																						uc004dmk.1		NaN																	1	Substitution - Nonsense(1)	p.S210*(1)	ovary(1)	ovary(1)	1						c.(625-627)TCA>TGA		WD repeat domain 45 isoform 2							55.0	45.0	48.0					X																	48933303		2203	4300	6503	SO:0001587	stop_gained	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933303G>C	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.626C>G	X.37:g.48933303G>C	ENSP00000365551:p.Ser209*					PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Nonsense_Mutation_p.S107*|WDR45_uc004dmj.1_Nonsense_Mutation_p.S170*|WDR45_uc004dml.1_Nonsense_Mutation_p.S210*|WDR45_uc004dmm.1_Nonsense_Mutation_p.S174*|WDR45_uc010nim.1_Nonsense_Mutation_p.S209*|WDR45_uc004dmn.1_Nonsense_Mutation_p.S100*|WDR45_uc004dmo.1_Nonsense_Mutation_p.S232*|WDR45_uc004dmp.1_Nonsense_Mutation_p.S210*	p.S209*	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN			8	798	-			209			WD 2.		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Nonsense_Mutation	SNP	ENST00000376372.3	37	c.626C>G	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868004	0.91587	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000475977;ENST00000471338;ENST00000376358	.	.	.	3.76	3.76	0.43208	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.0451	14.37	0.66833	0.0:0.0:1.0:0.0	.	.	.	.	X	107;209;220;210;174;209;210;209;37;142;107	.	ENSP00000365536:S107X	S	-	2	0	AF196779.12;WDR45	48820247	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	9.154000	0.94694	1.814000	0.52955	0.409000	0.27619	TCA		0.557	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2		NM_007075		23	26	0	0	0	1	0	23	26		
ZXDB	158586	broad.mit.edu	37	X	57620058	57620058	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:57620058C>A	ENST00000374888.1	+	1	1790	c.1577C>A	c.(1576-1578)tCt>tAt	p.S526Y		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	526	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCCAGGTTCTCTGCTCGCAGT	0.517																																						uc004dvd.2		NaN																	0					0						c.(1576-1578)TCT>TAT		zinc finger, X-linked, duplicated B							27.0	25.0	26.0					X																	57620058		2202	4296	6498	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57620058C>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1577C>A	X.37:g.57620058C>A	ENSP00000364023:p.Ser526Tyr						p.S526Y	NM_007157	NP_009088	P98169	ZXDB_HUMAN			1	1790	+			526			Required for interaction with ZXDC (By similarity).|C2H2-type 9.		A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.1577C>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	17.14	3.314735	0.60524	.	.	ENSG00000198455	ENST00000374888	T	0.37235	1.21	3.5	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	L	0.41124	1.26	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.50074	-0.8870	10	0.72032	D	0.01	.	12.0103	0.53282	0.0:1.0:0.0:0.0	.	526	P98169	ZXDB_HUMAN	Y	526	ENSP00000364023:S526Y	ENSP00000364023:S526Y	S	+	2	0	ZXDB	57636783	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	5.404000	0.66344	1.762000	0.52044	0.483000	0.47432	TCT		0.517	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1		NM_007157		10	65	1	0	1.33834e-09	1	1.47404e-09	10	65		
KIF4A	24137	broad.mit.edu	37	X	69521860	69521860	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:69521860G>A	ENST00000374403.3	+	6	709	c.627G>A	c.(625-627)tcG>tcA	p.S209S	KIF4A_ENST00000374388.3_Silent_p.S209S	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	209	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACTCCCAGTCGTCCCGATCTC	0.413																																						uc004dyg.2		NaN																	0				ovary(4)	4						c.(625-627)TCG>TCA		kinesin family member 4							99.0	83.0	88.0					X																	69521860		2203	4299	6502	SO:0001819	synonymous_variant	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69521860G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.627G>A	X.37:g.69521860G>A						KIF4A_uc010nkw.2_Silent_p.S209S|KIF4A_uc004dyf.1_Silent_p.S209S	p.S209S	NM_012310	NP_036442	O95239	KIF4A_HUMAN			6	754	+			209			Kinesin-motor.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	c.627G>A	CCDS14401.1																																																																																				0.413	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1		NM_012310		6	96	0	0	0	1	0	6	96		
GDPD2	54857	broad.mit.edu	37	X	69646312	69646312	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:69646312C>T	ENST00000374382.3	+	6	706	c.455C>T	c.(454-456)tCa>tTa	p.S152L	GDPD2_ENST00000453994.2_Missense_Mutation_p.S152L|GDPD2_ENST00000536730.1_Missense_Mutation_p.S73L|GDPD2_ENST00000538649.1_Missense_Mutation_p.S73L|GDPD2_ENST00000472623.1_3'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	152					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TTGCGTGTGTCACTGCAGGTG	0.592																																						uc004dyh.2		NaN																	0				ovary(2)	2						c.(454-456)TCA>TTA		osteoblast differentiation promoting factor							79.0	54.0	62.0					X																	69646312		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69646312C>T	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.455C>T	X.37:g.69646312C>T	ENSP00000363503:p.Ser152Leu					GDPD2_uc010nkx.1_Missense_Mutation_p.S152L|GDPD2_uc010nky.1_5'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.S152L|GDPD2_uc011mpl.1_Missense_Mutation_p.S73L|GDPD2_uc011mpm.1_Missense_Mutation_p.S73L	p.S152L	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN			6	706	+	Renal(35;0.156)		152			Extracellular (Potential).		B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.455C>T	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469181	0.63625	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000003	T	0.64011	0.2560	M	0.80616	2.505	0.39258	D	0.964157	D;D;D	0.63880	0.993;0.989;0.976	D;P;P	0.72338	0.977;0.831;0.761	T	0.69781	-0.5052	9	.	.	.	-6.8919	12.7832	0.57489	0.0:1.0:0.0:0.0	.	152;73;152	B4DVC9;B4DRH4;Q9HCC8	.;.;GDPD2_HUMAN	L	152;73;73;152	ENSP00000414019:S152L;ENSP00000445982:S73L;ENSP00000444601:S73L;ENSP00000363503:S152L	.	S	+	2	0	GDPD2	69563037	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	5.256000	0.65468	2.010000	0.58986	0.292000	0.19580	TCA		0.592	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1		NM_017711		14	17	0	0	0	1	0	14	17		
MED12	9968	broad.mit.edu	37	X	70360539	70360539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:70360539G>A	ENST00000374080.3	+	42	6131	c.6099G>A	c.(6097-6099)atG>atA	p.M2033I	MED12_ENST00000333646.6_Missense_Mutation_p.M2036I|MED12_ENST00000374102.1_Missense_Mutation_p.M2032I|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2033	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGACTCCAATGAGTGCCCAGG	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(6097-6099)ATG>ATA		mediator complex subunit 12							121.0	118.0	119.0					X																	70360539		2190	4282	6472	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360539G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6099G>A	X.37:g.70360539G>A	ENSP00000363193:p.Met2033Ile					MED12_uc004dyz.2_Missense_Mutation_p.M2032I|MED12_uc004dza.2_Missense_Mutation_p.M1883I|MED12_uc010nla.2_Missense_Mutation_p.M662I	p.M2033I	NM_005120	NP_005111	Q93074	MED12_HUMAN			42	6298	+	Renal(35;0.156)		2033			Gln-rich.|Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.6099G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399887	0.25291	.	.	ENSG00000184634	ENST00000333646;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.47177	2.25;0.85;0.85;0.85;3.77	4.82	3.04	0.35103	.	0.221242	0.39615	N	0.001313	T	0.23014	0.0556	N	0.08118	0	0.28598	N	0.909298	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.17107	-1.0380	10	0.16896	T	0.51	-1.7196	8.0754	0.30714	0.0867:0.1545:0.7588:0.0	.	1883;2032;2033	Q7Z3Z5;Q93074-3;Q93074	.;.;MED12_HUMAN	I	2036;2032;2033;1983;781	ENSP00000333125:M2036I;ENSP00000363215:M2032I;ENSP00000363193:M2033I;ENSP00000414203:M1983I;ENSP00000408388:M781I	ENSP00000333125:M2036I	M	+	3	0	MED12	70277264	1.000000	0.71417	0.007000	0.13788	0.623000	0.37688	8.575000	0.90766	0.461000	0.27071	-0.355000	0.07637	ATG		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		27	108	0	0	0	1	0	27	108		
ATP7A	538	broad.mit.edu	37	X	77244136	77244136	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:77244136G>A	ENST00000341514.6	+	3	674	c.519G>A	c.(517-519)ctG>ctA	p.L173L	ATP7A_ENST00000343533.5_Silent_p.L173L|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	173	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGTCGTGCTGAAGATGAAAG	0.433																																						uc004ecx.3		NaN																	0					0						c.(517-519)CTG>CTA		ATPase, Cu++ transporting, alpha polypeptide							153.0	145.0	148.0					X																	77244136		2203	4296	6499	SO:0001819	synonymous_variant	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77244136G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.519G>A	X.37:g.77244136G>A						ATP7A_uc004ecw.2_Silent_p.L173L	p.L173L	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			3	679	+			173			HMA 2.|Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	ENST00000341514.6	37	c.519G>A	CCDS35339.1																																																																																				0.433	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1		NM_000052		52	253	0	0	0	1	0	52	253		
ITM2A	9452	broad.mit.edu	37	X	78616609	78616609	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:78616609C>G	ENST00000373298.2	-	6	912	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Missense_Mutation_p.E213Q	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	257						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATCTTGGTCTCAACAATAAAT	0.363																																						uc004edh.2		NaN																	0				lung(2)	2						c.(769-771)GAG>CAG		integral membrane protein 2A							65.0	49.0	55.0					X																	78616609		2203	4299	6502	SO:0001583	missense	9452					integral to membrane	protein binding	g.chrX:78616609C>G	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.769G>C	X.37:g.78616609C>G	ENSP00000362395:p.Glu257Gln					ITM2A_uc011mqr.1_Missense_Mutation_p.E213Q	p.E257Q	NM_004867	NP_004858	O43736	ITM2A_HUMAN			6	1104	-			257					B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	c.769G>C	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031480	0.75504	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.55760	1.24;0.5	4.5	4.5	0.54988	.	0.142736	0.45361	D	0.000371	T	0.69061	0.3069	M	0.65677	2.01	0.46028	D	0.99882	D;D	0.89917	1.0;0.998	D;P	0.79108	0.992;0.863	T	0.73129	-0.4080	10	0.87932	D	0	-16.4223	13.1059	0.59247	0.0:1.0:0.0:0.0	.	213;257	B4E062;O43736	.;ITM2A_HUMAN	Q	257;213	ENSP00000362395:E257Q;ENSP00000415533:E213Q	ENSP00000362395:E257Q	E	-	1	0	ITM2A	78503265	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.558000	0.67319	1.817000	0.53016	0.513000	0.50165	GAG		0.363	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1		NM_004867		13	29	0	0	0	1	0	13	29		
BRWD3	254065	broad.mit.edu	37	X	79932201	79932201	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:79932201C>G	ENST00000373275.4	-	41	5532	c.5316G>C	c.(5314-5316)gaG>gaC	p.E1772D	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1772					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCAGAGGATCCTCAGTGGACA	0.398																																						uc004edt.2		NaN																	0				ovary(4)	4						c.(5314-5316)GAG>GAC		bromodomain and WD repeat domain containing 3							76.0	64.0	68.0					X																	79932201		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932201C>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5316G>C	X.37:g.79932201C>G	ENSP00000362372:p.Glu1772Asp					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.E1368D|BRWD3_uc004edp.2_Missense_Mutation_p.E1601D|BRWD3_uc004edq.2_Missense_Mutation_p.E1368D|BRWD3_uc010nmj.1_Missense_Mutation_p.E1368D|BRWD3_uc004edr.2_Missense_Mutation_p.E1442D|BRWD3_uc004eds.2_Missense_Mutation_p.E1368D|BRWD3_uc004edu.2_Missense_Mutation_p.E1442D|BRWD3_uc004edv.2_Missense_Mutation_p.E1368D|BRWD3_uc004edw.2_Missense_Mutation_p.E1368D|BRWD3_uc004edx.2_Missense_Mutation_p.E1368D|BRWD3_uc004edy.2_Missense_Mutation_p.E1368D|BRWD3_uc004edz.2_Missense_Mutation_p.E1442D|BRWD3_uc004eea.2_Missense_Mutation_p.E1442D|BRWD3_uc004eeb.2_Missense_Mutation_p.E1368D|uc004edn.1_5'Flank	p.E1772D	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			41	5579	-			1772					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.5316G>C	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	6.224	0.409540	0.11812	.	.	ENSG00000165288	ENST00000373275	T	0.41400	1.0	4.24	1.13	0.20643	.	0.258931	0.36740	N	0.002437	T	0.12092	0.0294	N	0.01576	-0.805	0.34912	D	0.747609	B	0.11235	0.004	B	0.06405	0.002	T	0.10405	-1.0631	9	.	.	.	-12.464	3.9214	0.09245	0.1707:0.326:0.0:0.5033	.	1772	Q6RI45	BRWD3_HUMAN	D	1772	ENSP00000362372:E1772D	.	E	-	3	2	BRWD3	79818857	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.925000	0.28791	0.279000	0.22186	0.513000	0.50165	GAG		0.398	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1		NM_153252		10	52	0	0	0	1	0	10	52		
CYLC1	1538	broad.mit.edu	37	X	83127893	83127893	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:83127893G>A	ENST00000329312.4	+	4	214		c.e4-1			NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AATCTTTTCAGAGACATGACA	0.294																																						uc004eei.1		NaN																	0				ovary(4)|skin(1)	5						c.e4-1		cylicin, basic protein of sperm head							17.0	17.0	17.0					X																	83127893		2188	4278	6466	SO:0001630	splice_region_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83127893G>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.178-1G>A	X.37:g.83127893G>A						CYLC1_uc004eeh.1_Splice_Site_p.R59_splice	p.R60_splice	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	199	+								A0AVQ8|Q5JQQ9	Splice_Site	SNP	ENST00000329312.4	37	c.178_splice	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	G	7.772	0.707594	0.15239	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7102	0.51620	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYLC1	83014549	0.979000	0.34478	0.935000	0.37517	0.064000	0.16182	1.684000	0.37649	2.246000	0.74042	0.600000	0.82982	.		0.294	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1		NM_021118	Intron	4	16	0	0	0	1	0	4	16		
TCEAL1	9338	broad.mit.edu	37	X	102885010	102885010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:102885010G>A	ENST00000372625.3	+	3	330	c.166G>A	c.(166-168)Gag>Aag	p.E56K	TCEAL1_ENST00000469820.1_3'UTR|TCEAL1_ENST00000372626.3_Missense_Mutation_p.E56K|TCEAL1_ENST00000372624.3_Missense_Mutation_p.E56K	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	54	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1						GCTCTTGCCTGAGCTCCTGCC	0.642																																						uc004eks.2		NaN																	0				ovary(1)	1						c.(166-168)GAG>AAG		transcription elongation factor A (SII)-like 1							28.0	28.0	28.0					X																	102885010		2199	4293	6492	SO:0001583	missense	9338				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:102885010G>A	M99701	CCDS35358.1	Xq22.1	2014-03-21			ENSG00000172465	ENSG00000172465			11616	protein-coding gene	gene with protein product		300237				8206389, 7971997, 16221301	Standard	NM_004780		Approved	p21, pp21, SIIR, P21, WEX9	uc004eku.3	Q15170	OTTHUMG00000022699	ENST00000372625.3:c.166G>A	X.37:g.102885010G>A	ENSP00000361708:p.Glu56Lys					TCEAL1_uc004ekt.2_Missense_Mutation_p.E56K|TCEAL1_uc004eku.2_Missense_Mutation_p.E56K	p.E56K	NM_001006640	NP_001006641	Q15170	TCAL1_HUMAN			3	340	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q9UJQ9	Missense_Mutation	SNP	ENST00000372625.3	37	c.166G>A	CCDS35358.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335240	0.60853	.	.	ENSG00000172465	ENST00000372626;ENST00000372625;ENST00000372624	T;T;T	0.50001	0.76;0.76;0.76	4.56	4.56	0.56223	.	0.000000	0.49305	D	0.000154	T	0.66167	0.2762	.	.	.	0.34646	D	0.721125	D	0.76494	0.999	D	0.83275	0.996	T	0.74352	-0.3693	9	0.44086	T	0.13	-5.3909	14.2002	0.65699	0.0:0.0:1.0:0.0	.	56	Q15170-2	.	K	56	ENSP00000361709:E56K;ENSP00000361708:E56K;ENSP00000361707:E56K	ENSP00000361707:E56K	E	+	1	0	TCEAL1	102771666	0.994000	0.37717	0.964000	0.40570	0.898000	0.52572	2.764000	0.47613	2.527000	0.85204	0.600000	0.82982	GAG		0.642	TCEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058903.1		NM_004780		11	30	0	0	0	1	0	11	30		
ZCCHC18	644353	broad.mit.edu	37	X	103359457	103359457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:103359457G>T	ENST00000537356.3	+	2	2069	c.655G>T	c.(655-657)Gaa>Taa	p.E219*	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	219							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										GATAAGGGAGGAAGAGGATTG	0.502																																						uc011msh.1		NaN																	0					0						c.(655-657)GAA>TAA		zinc finger, CCHC domain containing 18							28.0	22.0	24.0					X																	103359457		692	1591	2283	SO:0001587	stop_gained	644353						nucleic acid binding|zinc ion binding	g.chrX:103359457G>T	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.655G>T	X.37:g.103359457G>T	ENSP00000473824:p.Glu219*					MCART6_uc004elu.2_Intron|ZCCHC18_uc011msg.1_Intron	p.E219*	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN			3	1971	+			219						Nonsense_Mutation	SNP	ENST00000537356.3	37	c.655G>T																																																																																					0.502	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1		NM_001143978		4	33	1	0	0.00909568	1	0.00919788	4	33		
TRPC5	7224	broad.mit.edu	37	X	111019659	111019659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:111019659G>A	ENST00000262839.2	-	11	3722	c.2804C>T	c.(2803-2805)tCa>tTa	p.S935L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	935					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTAGAATTTGAGGAGCAGAT	0.483																																						uc004epl.1		NaN																	0				urinary_tract(1)	1						c.(2803-2805)TCA>TTA		transient receptor potential cation channel,							59.0	50.0	53.0					X																	111019659		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111019659G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2804C>T	X.37:g.111019659G>A	ENSP00000262839:p.Ser935Leu						p.S935L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			11	3723	-			935			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2804C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964614	0.74131	.	.	ENSG00000072315	ENST00000262839	T	0.77358	-1.09	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	T	0.68430	0.3000	N	0.19112	0.55	0.80722	D	1	B	0.27823	0.19	B	0.29267	0.1	T	0.65508	-0.6151	10	0.40728	T	0.16	-6.6475	18.6176	0.91308	0.0:0.0:1.0:0.0	.	935	Q9UL62	TRPC5_HUMAN	L	935	ENSP00000262839:S935L	ENSP00000262839:S935L	S	-	2	0	TRPC5	110906315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.190000	0.94934	2.340000	0.79590	0.513000	0.50165	TCA		0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1		NM_012471		7	52	0	0	0	1	0	7	52		
ZCCHC16	340595	broad.mit.edu	37	X	111698393	111698393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:111698393C>G	ENST00000340433.2	+	1	667	c.437C>G	c.(436-438)cCt>cGt	p.P146R		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	146							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P146L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAAATCAATCCTCTGATGAAT	0.418																																						uc004epo.1		NaN																	1	Substitution - Missense(1)	p.P146L(1)	ovary(1)	ovary(1)	1						c.(436-438)CCT>CGT		zinc finger, CCHC domain containing 16							83.0	79.0	81.0					X																	111698393		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698393C>G	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.437C>G	X.37:g.111698393C>G	ENSP00000340590:p.Pro146Arg						p.P146R	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	878	+			146					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.437C>G	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.993753	0.00045	.	.	ENSG00000187823	ENST00000340433	T	0.28454	1.61	4.12	1.3	0.21679	.	1.081410	0.07229	N	0.862202	T	0.21145	0.0509	L	0.27053	0.805	0.09310	N	1	B	0.14805	0.011	B	0.24155	0.051	T	0.33471	-0.9867	10	0.37606	T	0.19	-0.3401	4.1987	0.10455	0.1566:0.5941:0.1507:0.0986	.	146	Q6ZR62	ZCH16_HUMAN	R	146	ENSP00000340590:P146R	ENSP00000340590:P146R	P	+	2	0	ZCCHC16	111585049	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.066000	0.03454	-0.073000	0.12842	-1.225000	0.01585	CCT		0.418	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1		NM_001004308		16	127	0	0	0	1	0	16	127		
WDR44	54521	broad.mit.edu	37	X	117576550	117576550	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117576550C>G	ENST00000254029.3	+	17	2686	c.2291C>G	c.(2290-2292)tCc>tGc	p.S764C	WDR44_ENST00000371822.5_Missense_Mutation_p.S675C|WDR44_ENST00000371825.3_Missense_Mutation_p.S764C	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	764						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TCAAATGACTCCAGAATCAGA	0.338																																						uc004eqn.2		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(2290-2292)TCC>TGC		WD repeat domain 44 protein							89.0	80.0	83.0					X																	117576550		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117576550C>G	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.2291C>G	X.37:g.117576550C>G	ENSP00000254029:p.Ser764Cys					WDR44_uc004eqo.2_Missense_Mutation_p.S764C|WDR44_uc011mtr.1_Missense_Mutation_p.S675C|WDR44_uc010nqi.2_Missense_Mutation_p.S474C	p.S764C	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			17	2716	+			764			WD 5.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.2291C>G	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460363	0.84317	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825;ENST00000318919	D;D;D	0.81908	-1.55;-1.55;-1.55	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	M	0.93328	3.405	0.44508	D	0.997457	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.95102	0.8231	10	0.87932	D	0	-7.436	18.7947	0.91990	0.0:1.0:0.0:0.0	.	675;764;764;764	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.;.;.;WDR44_HUMAN	C	675;764;764;150	ENSP00000360887:S675C;ENSP00000254029:S764C;ENSP00000360890:S764C	ENSP00000254029:S764C	S	+	2	0	WDR44	117460578	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.440000	0.80464	2.384000	0.81235	0.525000	0.51046	TCC		0.338	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1		NM_019045		25	49	0	0	0	1	0	25	49		
DOCK11	139818	broad.mit.edu	37	X	117679988	117679988	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117679988C>T	ENST00000276202.7	+	6	530	c.467C>T	c.(466-468)tCa>tTa	p.S156L	DOCK11_ENST00000276204.6_Missense_Mutation_p.S156L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	156					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTTCAGGACTCATCTTCTTTA	0.408																																						uc004eqp.2		NaN																	0				ovary(3)	3						c.(466-468)TCA>TTA		dedicator of cytokinesis 11							135.0	115.0	122.0					X																	117679988		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117679988C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.467C>T	X.37:g.117679988C>T	ENSP00000276202:p.Ser156Leu						p.S156L	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			6	530	+			156					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.467C>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797135	0.70567	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18338	2.22;2.22	5.34	5.34	0.76211	.	0.140051	0.50627	D	0.000115	T	0.15176	0.0366	L	0.44542	1.39	0.54753	D	0.999989	P	0.47409	0.895	B	0.36666	0.23	T	0.04961	-1.0915	10	0.27785	T	0.31	0.0051	16.7247	0.85418	0.0:1.0:0.0:0.0	.	156	Q5JSL3	DOC11_HUMAN	L	156	ENSP00000276204:S156L;ENSP00000276202:S156L	ENSP00000276202:S156L	S	+	2	0	DOCK11	117564016	1.000000	0.71417	0.963000	0.40424	0.953000	0.61014	6.970000	0.76099	2.207000	0.71202	0.600000	0.82982	TCA		0.408	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1		NM_144658		23	63	0	0	0	1	0	23	63		
DOCK11	139818	broad.mit.edu	37	X	117761530	117761530	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117761530G>A	ENST00000276202.7	+	33	3715	c.3652G>A	c.(3652-3654)Gac>Aac	p.D1218N	DOCK11_ENST00000276204.6_Missense_Mutation_p.D1218N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1218					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCTGAGCACTGACAAAGACAC	0.383																																						uc004eqp.2		NaN																	0				ovary(3)	3						c.(3652-3654)GAC>AAC		dedicator of cytokinesis 11							128.0	127.0	127.0					X																	117761530		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117761530G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3652G>A	X.37:g.117761530G>A	ENSP00000276202:p.Asp1218Asn					DOCK11_uc004eqq.2_Missense_Mutation_p.D997N	p.D1218N	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			33	3715	+			1218					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.3652G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458450	0.43634	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.17213	2.29;2.29	5.5	5.5	0.81552	.	0.880421	0.10229	N	0.699889	T	0.09247	0.0228	N	0.01705	-0.755	0.58432	D	0.999994	B;B	0.25850	0.001;0.136	B;B	0.26094	0.002;0.066	T	0.43261	-0.9402	10	0.15499	T	0.54	-4.661	18.652	0.91433	0.0:0.0:1.0:0.0	.	1218;1218	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	1218	ENSP00000276204:D1218N;ENSP00000276202:D1218N	ENSP00000276202:D1218N	D	+	1	0	DOCK11	117645558	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.311000	0.72835	2.435000	0.82474	0.594000	0.82650	GAC		0.383	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1		NM_144658		12	96	0	0	0	1	0	12	96		
ZBTB33	10009	broad.mit.edu	37	X	119387705	119387705	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:119387705G>A	ENST00000326624.2	+	2	663	c.435G>A	c.(433-435)aaG>aaA	p.K145K	ZBTB33_ENST00000557385.1_Silent_p.K145K	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	145					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTGGTGACAAGAACCTTGTAA	0.403																																						uc004esn.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(433-435)AAG>AAA		kaiso							53.0	53.0	53.0					X																	119387705		2203	4299	6502	SO:0001819	synonymous_variant	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119387705G>A	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.435G>A	X.37:g.119387705G>A						ZBTB33_uc010nqm.1_Silent_p.K145K	p.K145K	NM_006777	NP_006768	Q86T24	KAISO_HUMAN			2	663	+			145					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Silent	SNP	ENST00000326624.2	37	c.435G>A	CCDS14596.1																																																																																				0.403	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2		NM_006777		10	54	0	0	0	1	0	10	54		
CT47B1	643311	broad.mit.edu	37	X	120009116	120009116	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:120009116G>A	ENST00000371311.3	-	1	663	c.409C>T	c.(409-411)Cac>Tac	p.H137Y		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	137										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TGGTCGTTGTGATAGAGGCGG	0.652																																						uc011muc.1		NaN																	0					0						c.(409-411)CAC>TAC		cancer/testis antigen family 147, member B1							122.0	115.0	118.0					X																	120009116		692	1590	2282	SO:0001583	missense	643311							g.chrX:120009116G>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.409C>T	X.37:g.120009116G>A	ENSP00000360360:p.His137Tyr						p.H137Y	NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN			1	664	-			137					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.409C>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	G	9.053	0.992485	0.18966	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.01	-2.84	0.05751	.	.	.	.	.	T	0.15652	0.0377	N	0.11201	0.11	0.09310	N	1	P	0.50710	0.938	P	0.50537	0.643	T	0.06075	-1.0847	8	0.20519	T	0.43	.	0.1155	0.00060	0.3232:0.2537:0.1886:0.2345	.	137	P0C2W7	CT47B_HUMAN	Y	137	.	ENSP00000360360:H137Y	H	-	1	0	CT47B1	119893144	0.003000	0.15002	0.000000	0.03702	0.110000	0.19582	-0.495000	0.06443	-0.756000	0.04703	0.171000	0.16805	CAC		0.652	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1		NM_001145718		10	59	0	0	0	1	0	10	59		
STAG2	10735	broad.mit.edu	37	X	123179197	123179197	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:123179197C>A	ENST00000371160.1	+	8	936	c.646C>A	c.(646-648)Cga>Aga	p.R216R	STAG2_ENST00000371144.3_Silent_p.R216R|STAG2_ENST00000371145.3_Silent_p.R216R|STAG2_ENST00000354548.5_Silent_p.R147R|STAG2_ENST00000371157.3_Silent_p.R216R|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.R216R	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	216					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGAGCATTTCGACATACAAG	0.343																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.(646-648)CGA>AGA		stromal antigen 2 isoform b							133.0	126.0	129.0					X																	123179197		2203	4300	6503	SO:0001819	synonymous_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179197C>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.646C>A	X.37:g.123179197C>A						STAG2_uc004eua.2_Silent_p.R216R|STAG2_uc004eub.2_Silent_p.R216R|STAG2_uc004euc.2_Silent_p.R216R|STAG2_uc004eud.2_Silent_p.R216R|STAG2_uc004eue.2_Silent_p.R216R	p.R216R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			7	985	+			216					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.646C>A	CCDS14607.1																																																																																				0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		83	139	1	0	2.16136e-38	1	2.51228e-38	83	139		
DCAF12L2	340578	broad.mit.edu	37	X	125299590	125299590	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:125299590C>A	ENST00000360028.2	-	1	344	c.318G>T	c.(316-318)ctG>ctT	p.L106L	DCAF12L2_ENST00000538699.1_Silent_p.L106L			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	106										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCTGGCGTTCAGCCACTGTG	0.652																																						uc004euk.1		NaN																	0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(316-318)CTG>CTT		DDB1 and CUL4 associated factor 12-like 2							70.0	62.0	65.0					X																	125299590		2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125299590C>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.318G>T	X.37:g.125299590C>A							p.L106L	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	345	-			106					B2RN42	Silent	SNP	ENST00000360028.2	37	c.318G>T	CCDS43991.1																																																																																				0.652	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1		NM_001013628		8	75	1	0	0.0477658	1	0.0481479	8	75		
UTP14A	10813	broad.mit.edu	37	X	129053376	129053376	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:129053376G>A	ENST00000394422.3	+	8	691	c.663G>A	c.(661-663)aaG>aaA	p.K221K	UTP14A_ENST00000371051.5_Silent_p.K167K|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.K169K|UTP14A_ENST00000371042.3_Silent_p.K53K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	221					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGTAGGCAAAGATGCGACGAG	0.517																																						uc004euz.2		NaN																	0				ovary(2)	2						c.(661-663)AAG>AAA		UTP14, U3 small nucleolar ribonucleoprotein,							106.0	99.0	101.0					X																	129053376		2203	4300	6503	SO:0001819	synonymous_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129053376G>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.663G>A	X.37:g.129053376G>A						UTP14A_uc011mup.1_Silent_p.K169K|UTP14A_uc011muq.1_Silent_p.K167K|UTP14A_uc004eva.1_5'Flank	p.K221K	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			8	691	+			221			Potential.		A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	c.663G>A	CCDS14615.1																																																																																				0.517	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1		NM_006649		43	85	0	0	0	1	0	43	85		
AFF2	2334	broad.mit.edu	37	X	147919173	147919173	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:147919173G>A	ENST00000370460.2	+	5	1568	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	AFF2_ENST00000370458.1_Intron|AFF2_ENST00000286437.5_Intron|AFF2_ENST00000370457.5_Intron|AFF2_ENST00000342251.3_Intron	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	363					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTCATTAGGAGATGACCCATT	0.413																																						uc004fcp.2		NaN																	0				ovary(3)|pancreas(2)	5						c.(1087-1089)GAG>GAA		fragile X mental retardation 2							151.0	122.0	132.0					X																	147919173		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147919173G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1089G>A	X.37:g.147919173G>A						AFF2_uc004fco.2_Intron|AFF2_uc004fcq.2_Silent_p.E359E|AFF2_uc004fcr.2_Intron|AFF2_uc011mxb.1_Intron|AFF2_uc004fcs.2_Intron|AFF2_uc011mxc.1_Intron	p.E363E	NM_002025	NP_002016	P51816	AFF2_HUMAN			5	1568	+	Acute lymphoblastic leukemia(192;6.56e-05)		363					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.1089G>A	CCDS14684.1																																																																																				0.413	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2		NM_002025		6	61	0	0	0	1	0	6	61		
IDS	3423	broad.mit.edu	37	X	148571931	148571931	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:148571931A>G	ENST00000340855.6	-	7	1129	c.920T>C	c.(919-921)tTg>tCg	p.L307S	IDS_ENST00000490775.1_5'UTR|IDS_ENST00000541269.1_Missense_Mutation_p.L96S|IDS_ENST00000537071.1_5'Flank|IDS_ENST00000422081.2_Missense_Mutation_p.L96S|IDS_ENST00000370441.4_Missense_Mutation_p.L307S	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	307					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGTGTATCCAAATATGACAC	0.433																																						uc011mxe.1		NaN																	0					0						c.(919-921)TTG>TCG		iduronate-2-sulfatase isoform a precursor							84.0	75.0	78.0					X																	148571931		2203	4300	6503	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148571931A>G	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.920T>C	X.37:g.148571931A>G	ENSP00000339801:p.Leu307Ser					IDS_uc011mxd.1_5'UTR|IDS_uc011mxf.1_Missense_Mutation_p.L217S|IDS_uc011mxg.1_Missense_Mutation_p.L96S|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.L96S|IDS_uc011mxh.1_Missense_Mutation_p.L307S|IDS_uc011mxi.1_RNA	p.L307S	NM_000202	NP_000193	P22304	IDS_HUMAN			7	1118	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		307					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.920T>C	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.620419	0.46736	.	.	ENSG00000010404	ENST00000340855;ENST00000541269;ENST00000370441	D;D;D	0.98617	-5.03;-5.03;-5.03	4.97	4.97	0.65823	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.352364	0.30134	N	0.010327	D	0.98036	0.9353	M	0.78049	2.395	0.80722	D	1	B;B;B	0.22604	0.046;0.03;0.072	B;B;B	0.32393	0.043;0.145;0.07	D	0.97771	1.0226	10	0.87932	D	0	.	13.8751	0.63648	1.0:0.0:0.0:0.0	.	307;217;307	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	S	307;96;307	ENSP00000339801:L307S;ENSP00000441261:L96S;ENSP00000359470:L307S	ENSP00000339801:L307S	L	-	2	0	IDS	148379836	1.000000	0.71417	0.718000	0.30602	0.449000	0.32228	8.647000	0.91057	1.651000	0.50673	0.417000	0.27973	TTG		0.433	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3				20	91	0	0	0	1	0	20	91		
MTMR1	8776	broad.mit.edu	37	X	149867721	149867721	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:149867721C>T	ENST00000370390.3	+	2	357	c.200C>T	c.(199-201)tCt>tTt	p.S67F	MTMR1_ENST00000542156.1_Missense_Mutation_p.S67F|MTMR1_ENST00000451863.2_Missense_Mutation_p.S67F|MTMR1_ENST00000541925.1_5'UTR|MTMR1_ENST00000544228.1_Missense_Mutation_p.S67F|MTMR1_ENST00000445323.2_Missense_Mutation_p.S67F	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	67					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCTACAATTTCTAGTCAGATT	0.353																																						uc004fei.2		NaN																	0				ovary(1)	1						c.(199-201)TCT>TTT		myotubularin-related protein 1							149.0	140.0	143.0					X																	149867721		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149867721C>T	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.200C>T	X.37:g.149867721C>T	ENSP00000359417:p.Ser67Phe					MTMR1_uc011mya.1_5'UTR|MTMR1_uc004feg.1_Missense_Mutation_p.S67F|MTMR1_uc004feh.1_Missense_Mutation_p.S67F|MTMR1_uc004fej.2_RNA	p.S67F	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			2	335	+	Acute lymphoblastic leukemia(192;6.56e-05)		67					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.200C>T	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132553	0.77662	.	.	ENSG00000063601	ENST00000542156;ENST00000370390;ENST00000490316;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000438018;ENST00000436701	D;D;D;D;D;D;D;D	0.96459	-3.54;-3.79;-3.75;-3.75;-3.79;-4.02;-3.68;-3.81	5.55	5.55	0.83447	.	0.193497	0.56097	D	0.000023	D	0.96827	0.8964	M	0.64997	1.995	0.80722	D	1	P;D;D	0.62365	0.929;0.957;0.991	B;P;P	0.54060	0.427;0.63;0.741	D	0.97282	0.9918	10	0.72032	D	0.01	.	17.1731	0.86834	0.0:1.0:0.0:0.0	.	67;67;67	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	F	67;67;67;67;67;67;14;14	ENSP00000445281:S67F;ENSP00000359417:S67F;ENSP00000436957:S67F;ENSP00000414178:S67F;ENSP00000440534:S67F;ENSP00000387446:S67F;ENSP00000389884:S14F;ENSP00000414925:S14F	ENSP00000359417:S67F	S	+	2	0	MTMR1	149618379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.302000	0.72788	2.321000	0.78463	0.538000	0.68166	TCT		0.353	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2		NM_003828, NM_176789		18	86	0	0	0	1	0	18	86		
RENBP	5973	broad.mit.edu	37	X	153205672	153205672	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:153205672C>T	ENST00000393700.3	-	9	1040	c.960G>A	c.(958-960)atG>atA	p.M320I	RENBP_ENST00000369997.3_Missense_Mutation_p.M306I|RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_3'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	320					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCAGAGCTTCATGGCCCACT	0.602																																						uc004fjo.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(958-960)ATG>ATA		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						100.0	72.0	82.0					X																	153205672		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153205672C>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.960G>A	X.37:g.153205672C>T	ENSP00000377303:p.Met320Ile						p.M320I	NM_002910	NP_002901	P51606	RENBP_HUMAN			9	1130	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		320					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.960G>A	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314315	0.81358	.	.	ENSG00000102032	ENST00000393700;ENST00000369997	T;T	0.30714	1.52;1.52	4.79	4.79	0.61399	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74000	-0.3805	10	0.66056	D	0.02	-25.2836	15.9898	0.80197	0.0:1.0:0.0:0.0	.	320	P51606	RENBP_HUMAN	I	320;306	ENSP00000377303:M320I;ENSP00000359014:M306I	ENSP00000359014:M306I	M	-	3	0	RENBP	152858866	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.387000	0.73191	2.111000	0.64477	0.600000	0.82982	ATG		0.602	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3		NM_002910		11	51	0	0	0	1	0	11	51		
RENBP	5973	broad.mit.edu	37	X	153207433	153207433	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:153207433G>T	ENST00000393700.3	-	7	819	c.739C>A	c.(739-741)Cct>Act	p.P247T	RENBP_ENST00000369997.3_Missense_Mutation_p.P233T|RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_Intron	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	247					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AGGCAGCCAGGAAGTTCCTTG	0.632																																						uc004fjo.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(739-741)CCT>ACT		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						113.0	97.0	103.0					X																	153207433		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153207433G>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.739C>A	X.37:g.153207433G>T	ENSP00000377303:p.Pro247Thr					RENBP_uc011mzh.1_Intron	p.P247T	NM_002910	NP_002901	P51606	RENBP_HUMAN			7	909	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		247					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.739C>A	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	g	7.661	0.684864	0.14973	.	.	ENSG00000102032	ENST00000393700;ENST00000369997	T;T	0.31510	1.49;1.49	4.92	-6.69	0.01772	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.378692	0.29451	N	0.012104	T	0.29882	0.0747	M	0.62723	1.935	0.38086	D	0.936825	B	0.31769	0.339	B	0.36534	0.227	T	0.11203	-1.0597	10	0.54805	T	0.06	-0.0839	15.6862	0.77411	0.1077:0.1077:0.7846:0.0	.	247	P51606	RENBP_HUMAN	T	247;233	ENSP00000377303:P247T;ENSP00000359014:P233T	ENSP00000359014:P233T	P	-	1	0	RENBP	152860627	0.072000	0.21174	0.001000	0.08648	0.396000	0.30629	0.136000	0.15974	-1.521000	0.01771	-0.556000	0.04195	CCT		0.632	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3		NM_002910		39	80	1	0	1.30475e-32	1	1.5138e-32	39	80		
IL9R	3581	broad.mit.edu	37	X	155232650	155232650	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:155232650C>T	ENST00000244174.5	+	2	287	c.108C>T	c.(106-108)gtC>gtT	p.V36V	IL9R_ENST00000424344.3_Silent_p.V15V|IL9R_ENST00000540897.1_Silent_p.V73V|IL9R_ENST00000369423.2_Silent_p.V83V	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	36					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCACCTGTGTCTGCTTGGGAG	0.607																																						uc004fnv.1		NaN																	0					0						c.(106-108)GTC>GTT		interleukin 9 receptor precursor							185.0	181.0	182.0					X																	155232650		2203	4296	6499	SO:0001819	synonymous_variant	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155232650C>T	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.108C>T	X.37:g.155232650C>T						IL9R_uc010nvn.2_Silent_p.V15V|IL9R_uc004fnu.1_Silent_p.V83V	p.V36V	NM_002186	NP_002177	Q01113	IL9R_HUMAN			2	287	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		36					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Silent	SNP	ENST00000244174.5	37	c.108C>T	CCDS14771.4																																																																																				0.607	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1		NM_002186		12	113	0	0	0	1	0	12	113		
MIPEP	4285	broad.mit.edu	37	13	24460591	24460591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24460591delC	ENST00000382172.3	-	2	342	c.244delG	c.(244-246)gaafs	p.E82fs	C1QTNF9B-AS1_ENST00000435039.2_RNA|MIPEP_ENST00000469167.1_5'UTR|C1QTNF9B-AS1_ENST00000382133.4_RNA	NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	82					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAGGCTTTTTCTTGTGCAATA	0.453																																						uc001uox.3		NaN																	0				central_nervous_system(1)	1						c.(244-246)GAAfs		mitochondrial intermediate peptidase precursor							77.0	74.0	75.0					13																	24460591		2203	4300	6503	SO:0001589	frameshift_variant	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24460591delC		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.244delG	13.37:g.24460591delC	ENSP00000371607:p.Glu82fs					PCOTH_uc001uoy.2_5'Flank	p.E82fs	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	2	344	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	82					Q5JV15|Q5T9Q9|Q96G65	Frame_Shift_Del	DEL	ENST00000382172.3	37	c.244delG	CCDS9303.1																																																																																				0.453	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1				21	101	NaN	NaN	NaN	NaN	NaN	21	101	---	---
IRS2	8660	broad.mit.edu	37	13	110435129	110435129	+	Frame_Shift_Del	DEL	G	G	-	rs533420684		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:110435129delG	ENST00000375856.3	-	1	3786	c.3272delC	c.(3271-3273)ccgfs	p.P1091fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1091					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TTCTGGCTTCGGGGGGGCCGC	0.682																																					Melanoma(100;613 2409 40847)	uc001vqv.2		NaN																	0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(3271-3273)CCGfs		insulin receptor substrate 2							6.0	7.0	7.0					13																	110435129		2031	4088	6119	SO:0001589	frameshift_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110435129delG	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3272delC	13.37:g.110435129delG	ENSP00000365016:p.Pro1091fs						p.P1091fs	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	3786	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1091					Q96RR2|Q9BZG0|Q9Y6I5	Frame_Shift_Del	DEL	ENST00000375856.3	37	c.3272delC	CCDS9510.1																																																																																				0.682	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1		NM_003749		3	5	NaN	NaN	NaN	NaN	NaN	3	5	---	---
SLC35B2	347734	broad.mit.edu	37	6	44222852	44222856	+	Frame_Shift_Del	DEL	ATCTT	ATCTT	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:44222852_44222856delATCTT	ENST00000393812.3	-	4	1029_1033	c.886_890delAAGAT	c.(886-891)aagatgfs	p.KM296fs	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Frame_Shift_Del_p.KM203fs|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Frame_Shift_Del_p.KM163fs|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	296					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCGATGACATCTTATAGGCAAAC	0.532																																						uc003oxd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(886-891)AAGATGfs		solute carrier family 35, member B2																																				SO:0001589	frameshift_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44222852_44222856delATCTT	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.886_890delAAGAT	6.37:g.44222852_44222856delATCTT	ENSP00000377401:p.Lys296fs					SLC35B2_uc011dvt.1_Frame_Shift_Del_p.K199fs|SLC35B2_uc011dvu.1_Frame_Shift_Del_p.K163fs	p.K296fs	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1022_1026	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		296_297					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Frame_Shift_Del	DEL	ENST00000393812.3	37	c.886_890delAAGAT	CCDS34462.1																																																																																				0.532	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2				7	55	NaN	NaN	NaN	NaN	NaN	7	55	---	---
PRIM2	5558	broad.mit.edu	37	6	57512639	57512640	+	3'UTR	DEL	TT	TT	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:57512639_57512640delTT	ENST00000389488.2	+	0	1554_1555				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTCTGGCCTCTTTAAATTCCTC	0.411																																						uc003pdx.2		NaN																	0					0						c.(1465-1470)TCTTTAfs		DNA primase polypeptide 2																																				SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512639_57512640delTT		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1552TT>-	6.37:g.57512639_57512640delTT							p.S489fs	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1554_1555	+			489_490					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Frame_Shift_Del	DEL	ENST00000389488.2	37	c.1467_1468delTT																																																																																					0.411	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3		NM_000947		30	496	NaN	NaN	NaN	NaN	NaN	30	496	---	---
HUWE1	10075	broad.mit.edu	37	X	53655540	53655540	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:53655540delA	ENST00000342160.3	-	14	1603	c.1146delT	c.(1144-1146)tttfs	p.F382fs	HUWE1_ENST00000218328.8_Frame_Shift_Del_p.F382fs|HUWE1_ENST00000262854.6_Frame_Shift_Del_p.F382fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	382					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGCAGTGGCAAACTGGTGAG	0.478																																						uc004dsp.2		NaN																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(1144-1146)TTTfs		HECT, UBA and WWE domain containing 1							53.0	45.0	48.0					X																	53655540		2157	4160	6317	SO:0001589	frameshift_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53655540delA	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1146delT	X.37:g.53655540delA	ENSP00000340648:p.Phe382fs						p.F382fs	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			15	1548	-			382					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Del	DEL	ENST00000342160.3	37	c.1146delT	CCDS35301.1																																																																																				0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119		3	4	NaN	NaN	NaN	NaN	NaN	3	4	---	---
