#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CDK11B	984	broad.mit.edu	37	1	1573143	1573143	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:1573143G>T	ENST00000407249.3	-	14	1453	c.1454C>A	c.(1453-1455)cCc>cAc	p.P485H	CDK11B_ENST00000341832.6_Missense_Mutation_p.P438H|CDK11B_ENST00000317673.7_Missense_Mutation_p.P483H|CDK11B_ENST00000340677.5_Missense_Mutation_p.P472H			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	495	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GACGATGTTGGGATGCTGGGC	0.607																																						uc001agv.1		NA																	0				skin(1)	1						c.(1444-1446)CCC>CAC		cell division cycle 2-like 1 (PITSLRE proteins)							347.0	309.0	322.0					1																	1573143		2113	4218	6331	SO:0001583	missense	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1573143G>T	AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.1454C>A	1.37:g.1573143G>T	ENSP00000464036:p.Pro485His					CDK11B_uc009vkj.2_Missense_Mutation_p.P139H|CDK11B_uc001ags.1_Missense_Mutation_p.P340H|CDK11B_uc001agt.1_Missense_Mutation_p.P265H|CDK11B_uc001aha.1_Missense_Mutation_p.P448H|CDK11B_uc001agw.1_Missense_Mutation_p.P437H|CDK11B_uc001agy.1_Missense_Mutation_p.P480H|CDK11B_uc001agx.1_Missense_Mutation_p.P471H|CDK11B_uc001agz.1_Missense_Mutation_p.P226H	p.P482H	NM_033486	NP_277021	P21127	CD11B_HUMAN			17	1556	-			495			Protein kinase.		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Missense_Mutation	SNP	ENST00000407249.3	37	c.1445C>A																																																																																					0.607	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001787		21	222	1	0	1.28e-07	4.09e-07	21	222				
ARHGEF16	27237	broad.mit.edu	37	1	3397090	3397090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:3397090G>A	ENST00000378378.4	+	15	2474	c.2069G>A	c.(2068-2070)cGt>cAt	p.R690H	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R402H|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R402H|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R394H	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	690					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)		ATCACCAGCCGTGTGGCCGTG	0.677																																						uc001akg.3		NA																	0				ovary(1)	1						c.(2068-2070)CGT>CAT		Rho guanine exchange factor 16							52.0	46.0	48.0					1																	3397090		2200	4295	6495	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.chr1:3397090G>A	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.2069G>A	1.37:g.3397090G>A	ENSP00000367629:p.Arg690His					ARHGEF16_uc001aki.2_Missense_Mutation_p.R402H|ARHGEF16_uc001akj.2_Missense_Mutation_p.R402H|ARHGEF16_uc010nzh.1_Missense_Mutation_p.R394H	p.R690H	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)	15	2317	+	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)	690					Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.2069G>A	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795492	0.70452	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.70164	-0.06;-0.11;-0.11;-0.46	5.06	4.12	0.48240	.	0.207947	0.44483	D	0.000453	T	0.65575	0.2704	M	0.66939	2.045	0.46798	D	0.999208	D;D	0.58268	0.969;0.982	P;P	0.46320	0.512;0.512	T	0.66064	-0.6016	10	0.46703	T	0.11	-15.1983	8.9076	0.35532	0.079:0.1509:0.77:0.0	.	394;690	B4DJM7;Q5VV41	.;ARHGG_HUMAN	H	690;402;402;394	ENSP00000367629:R690H;ENSP00000367624:R402H;ENSP00000367622:R402H;ENSP00000408887:R394H	ENSP00000367622:R402H	R	+	2	0	ARHGEF16	3386950	0.993000	0.37304	0.990000	0.47175	0.696000	0.40369	2.331000	0.43894	1.093000	0.41377	0.462000	0.41574	CGT		0.677	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		6	49	0	0	0	0	6	49				
MAN1C1	57134	broad.mit.edu	37	1	25944781	25944781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:25944781C>T	ENST00000374332.4	+	1	823	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	165					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)		CGATGAGAGTCAGGAGCCCCA	0.637																																						uc001bkm.2		NA																	0				skin(1)	1						c.(493-495)CAG>TAG		mannosidase, alpha, class 1C, member 1							16.0	12.0	14.0					1																	25944781		1843	3823	5666	SO:0001587	stop_gained	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.chr1:25944781C>T	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.493C>T	1.37:g.25944781C>T	ENSP00000363452:p.Gln165*					MAN1C1_uc009vry.1_5'UTR	p.Q165*	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	823	+		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)	165			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Nonsense_Mutation	SNP	ENST00000374332.4	37	c.493C>T	CCDS265.1	.	.	.	.	.	.	.	.	.	.	c	35	5.537383	0.96460	.	.	ENSG00000117643	ENST00000374332	.	.	.	4.67	-9.33	0.00639	.	2.652800	0.01007	N	0.003765	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	3.4789	0.07595	0.1568:0.412:0.3136:0.1176	.	.	.	.	X	165	.	ENSP00000363452:Q165X	Q	+	1	0	MAN1C1	25817368	0.011000	0.17503	0.002000	0.10522	0.429000	0.31625	-0.297000	0.08276	-1.376000	0.02126	-0.867000	0.03001	CAG		0.637	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		5	12	0	0	0	0	5	12				
C1orf177	163747	broad.mit.edu	37	1	55279519	55279519	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:55279519G>T	ENST00000371273.3	+	7	810	c.795G>T	c.(793-795)aaG>aaT	p.K265N	C1orf177_ENST00000358193.3_Missense_Mutation_p.K265N	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	265										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TGAATTTCAAGAGCTTTGTAG	0.413																																						uc001cyb.3		NA																	0					0						c.(793-795)AAG>AAT		hypothetical protein LOC163747 isoform 2							75.0	84.0	81.0					1																	55279519		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55279519G>T	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.795G>T	1.37:g.55279519G>T	ENSP00000360320:p.Lys265Asn					C1orf177_uc001cya.3_Missense_Mutation_p.K265N	p.K265N	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			7	849	+			265					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.795G>T	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156102	0.38021	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.24151	1.87;1.87	4.81	4.81	0.61882	.	0.454460	0.21660	N	0.071039	T	0.33990	0.0882	L	0.52573	1.65	0.38008	D	0.934445	P;P	0.51351	0.944;0.944	P;P	0.50617	0.646;0.646	T	0.16958	-1.0385	10	0.49607	T	0.09	-1.4534	13.3104	0.60376	0.0:0.0:1.0:0.0	.	265;265	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	N	265	ENSP00000350924:K265N;ENSP00000360320:K265N	ENSP00000350924:K265N	K	+	3	2	C1orf177	55052107	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	2.502000	0.45398	2.515000	0.84797	0.456000	0.33151	AAG		0.413	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		6	60	1	0	0.00116845	0.00344411	6	60				
PRKAA2	5563	broad.mit.edu	37	1	57140142	57140142	+	Silent	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:57140142A>C	ENST00000371244.4	+	2	249	c.183A>C	c.(181-183)atA>atC	p.I61I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TTGGAAAAATAAAACGAGAAA	0.294																																						uc001cyk.3		NA																	0				breast(4)|ovary(1)|stomach(1)	6						c.(181-183)ATA>ATC		AMP-activated protein kinase alpha 2 catalytic							70.0	78.0	76.0					1																	57140142		2203	4296	6499	SO:0001819	synonymous_variant	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57140142A>C	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.183A>C	1.37:g.57140142A>C							p.I61I	NM_006252	NP_006243	P54646	AAPK2_HUMAN			2	254	+			61			Protein kinase.		Q9H1E8|Q9UD43	Silent	SNP	ENST00000371244.4	37	c.183A>C	CCDS605.1																																																																																				0.294	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		18	62	0	0	0	0	18	62				
USP33	23032	broad.mit.edu	37	1	78194375	78194375	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:78194375C>T	ENST00000370793.1	-	11	1179	c.833G>A	c.(832-834)tGt>tAt	p.C278Y	USP33_ENST00000357428.1_Missense_Mutation_p.C278Y|USP33_ENST00000370794.3_Missense_Mutation_p.C247Y|USP33_ENST00000370792.3_Missense_Mutation_p.C278Y	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	278	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATCCATTAAACATCGAAGGAA	0.353																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NA																	0				lung(2)|ovary(1)	3						c.(832-834)TGT>TAT		ubiquitin specific protease 33 isoform 1							94.0	87.0	89.0					1																	78194375		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78194375C>T	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.833G>A	1.37:g.78194375C>T	ENSP00000359829:p.Cys278Tyr					USP33_uc001dhs.2_5'UTR|USP33_uc001dhu.2_Missense_Mutation_p.C247Y|USP33_uc001dhv.2_Missense_Mutation_p.C83Y|USP33_uc001dhw.2_Missense_Mutation_p.C278Y	p.C278Y	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			11	1180	-			278					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.833G>A	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793674	0.90453	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.27557	4.25;1.66;1.66;4.25	5.46	5.46	0.80206	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.041485	0.85682	N	0.000000	T	0.30039	0.0752	N	0.16602	0.42	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;D;D	0.97110	0.989;0.941;1.0	T	0.05835	-1.0861	10	0.21014	T	0.42	.	19.6796	0.95957	0.0:1.0:0.0:0.0	.	278;247;278	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	Y	247;278;278;278	ENSP00000359830:C247Y;ENSP00000359829:C278Y;ENSP00000350009:C278Y;ENSP00000359828:C278Y	ENSP00000350009:C278Y	C	-	2	0	USP33	77966963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.187000	0.77730	2.733000	0.93635	0.591000	0.81541	TGT		0.353	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		28	50	0	0	0	0	28	50				
FLG	2312	broad.mit.edu	37	1	152283083	152283083	+	Missense_Mutation	SNP	C	C	T	rs148844389	byFrequency	TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:152283083C>T	ENST00000368799.1	-	3	4314	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1427	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)			TGGCCACGTGCGGACTCTTTG	0.557									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4279-4281)GCA>ACA		filaggrin		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	203.0	204.0	203.0		4279	-6.3	0.0	1	dbSNP_134	203	7,8593	5.7+/-21.5	0,7,4293	no	missense	FLG	NM_002016.1	58	0,9,6494	TT,TC,CC		0.0814,0.0454,0.0692	benign	1427/4062	152283083	9,12997	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.chr1:152283083C>T	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.4279G>A	1.37:g.152283083C>T	ENSP00000357789:p.Ala1427Thr					uc001ezv.2_5'Flank	p.A1427T	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4315	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1427			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4279G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	4.604	0.112200	0.08831	4.54E-4	8.14E-4	ENSG00000143631	ENST00000368799	T	0.01335	5.0	3.16	-6.31	0.02001	.	.	.	.	.	T	0.00178	0.0005	N	0.12637	0.245	0.09310	N	1	B	0.21905	0.062	B	0.08055	0.003	T	0.46911	-0.9157	9	0.02654	T	1	.	4.7267	0.12945	0.2301:0.3697:0.0:0.4002	.	1427	P20930	FILA_HUMAN	T	1427	ENSP00000357789:A1427T	ENSP00000357789:A1427T	A	-	1	0	FLG	150549707	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.753000	0.01818	-2.604000	0.00449	-0.222000	0.12452	GCA		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		38	318	0	0	0	0	38	318				
PPOX	5498	broad.mit.edu	37	1	161140306	161140306	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:161140306G>A	ENST00000367999.4	+	10	1361	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	PPOX_ENST00000432542.2_Silent_p.V110V|PPOX_ENST00000352210.5_Silent_p.V365V|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	365					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)			GCCTCAGAGTGACTGTGAGGA	0.542																																						uc001fyj.2		NA																	0				ovary(1)	1						c.(1093-1095)GTG>GTA		protoporphyrinogen oxidase							84.0	85.0	85.0					1																	161140306		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.chr1:161140306G>A	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.1095G>A	1.37:g.161140306G>A						PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Silent_p.V365V|PPOX_uc001fyl.2_Silent_p.V331V|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Silent_p.V203V|PPOX_uc001fyh.2_Silent_p.V203V|PPOX_uc010pkg.1_Silent_p.V203V|PPOX_uc009wuc.1_Intron|PPOX_uc010pkh.1_Silent_p.V110V|PPOX_uc001fyi.2_Silent_p.V203V	p.V365V	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		10	1385	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		365					D3DVG0|Q5VTW8	Silent	SNP	ENST00000367999.4	37	c.1095G>A	CCDS1221.1																																																																																				0.542	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		10	66	0	0	0	0	10	66				
PAPPA2	60676	broad.mit.edu	37	1	176563958	176563958	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:176563958G>T	ENST00000367662.3	+	3	2382	c.1218G>T	c.(1216-1218)ttG>ttT	p.L406F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L406F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	406					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCGCTCTTTGCTCCTGGGGG	0.587																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1216-1218)TTG>TTT		pappalysin 2 isoform 1							97.0	98.0	98.0					1																	176563958		2042	4196	6238	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563958G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1218G>T	1.37:g.176563958G>T	ENSP00000356634:p.Leu406Phe					PAPPA2_uc001gky.1_Missense_Mutation_p.L406F|PAPPA2_uc009www.2_RNA	p.L406F	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2382	+			406					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1218G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690300	0.48097	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.76186	-1.0;-1.0	5.45	2.02	0.26589	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, subdomain 2 (1);	0.162967	0.38837	N	0.001551	T	0.71953	0.3401	L	0.37897	1.145	0.24352	N	0.994913	D;D	0.62365	0.965;0.991	P;P	0.59643	0.861;0.838	T	0.60816	-0.7188	10	0.27082	T	0.32	-4.0248	7.6262	0.28214	0.1631:0.2532:0.5837:0.0	.	406;406	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	F	406	ENSP00000356634:L406F;ENSP00000356633:L406F	ENSP00000356633:L406F	L	+	3	2	PAPPA2	174830581	0.153000	0.22777	0.894000	0.35097	0.866000	0.49608	0.192000	0.17096	0.638000	0.30545	0.650000	0.86243	TTG		0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			32	59	1	0	4.32e-19	1.45e-18	32	59				
USH2A	7399	broad.mit.edu	37	1	216380633	216380633	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:216380633C>G	ENST00000307340.3	-	16	3684	c.3298G>C	c.(3298-3300)Gag>Cag	p.E1100Q	USH2A_ENST00000366942.3_Missense_Mutation_p.E1100Q|USH2A_ENST00000366943.2_Missense_Mutation_p.E1100Q|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1100	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATTGATCCTCTGTTGTGTAG	0.373										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(3298-3300)GAG>CAG		usherin isoform B							96.0	93.0	94.0					1																	216380633		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216380633C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3298G>C	1.37:g.216380633C>G	ENSP00000305941:p.Glu1100Gln	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.E1100Q	p.E1100Q	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	16	3685	-			1100			Extracellular (Potential).|Fibronectin type-III 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3298G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698246	0.30142	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.84730	-1.89;2.6;0.24	5.86	4.94	0.65067	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.307460	0.22806	N	0.055417	D	0.82688	0.5091	M	0.73962	2.25	0.32443	N	0.546492	B;P	0.42827	0.134;0.791	B;B	0.40864	0.041;0.342	T	0.81874	-0.0732	10	0.13108	T	0.6	.	10.2873	0.43575	0.0:0.7934:0.1365:0.0701	.	1100;1100	O75445-2;O75445	.;USH2A_HUMAN	Q	1100	ENSP00000305941:E1100Q;ENSP00000355910:E1100Q;ENSP00000355909:E1100Q	ENSP00000305941:E1100Q	E	-	1	0	USH2A	214447256	0.872000	0.30054	1.000000	0.80357	0.955000	0.61496	1.202000	0.32271	1.436000	0.47453	0.655000	0.94253	GAG		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	48	0	0	0	0	9	48				
HEATR1	55127	broad.mit.edu	37	1	236760193	236760193	+	Silent	SNP	T	T	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:236760193T>C	ENST00000366582.3	-	6	801	c.687A>G	c.(685-687)gtA>gtG	p.V229V	HEATR1_ENST00000366581.2_Silent_p.V229V|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	229					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)			CCTCTGCAGCTACCAGCGCCG	0.448																																						uc001hyd.1		NA																	0				ovary(2)|skin(1)	3						c.(685-687)GTA>GTG		protein BAP28							127.0	122.0	124.0					1																	236760193		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236760193T>C	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.687A>G	1.37:g.236760193T>C							p.V229V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	812	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	229					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.687A>G	CCDS31066.1																																																																																				0.448	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		10	80	0	0	0	0	10	80				
OR14A16	284532	broad.mit.edu	37	1	247978414	247978414	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:247978414G>A	ENST00000357627.1	-	1	617	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	206						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(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TAAAACAGCAGAAATCCAAAA	0.373																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	0					0						c.(616-618)TTC>TTT		olfactory receptor, family 14, subfamily A,							88.0	88.0	88.0					1																	247978414		2203	4300	6503	SO:0001819	synonymous_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978414G>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.618C>T	1.37:g.247978414G>A							p.F206F	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	618	-			206			Helical; Name=5; (Potential).		Q6IF96	Silent	SNP	ENST00000357627.1	37	c.618C>T	CCDS31097.1																																																																																				0.373	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		4	50	0	0	0	0	4	50				
OR2T27	403239	broad.mit.edu	37	1	248814121	248814121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:248814121C>T	ENST00000344889.3	-	1	64	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGGGAAACGGGCGTTGCT	0.483																																						uc010pzo.1		NA																	0				skin(1)	1						c.(64-66)CGT>CAT		olfactory receptor, family 2, subfamily T,							103.0	93.0	96.0					1																	248814121		2203	4300	6503	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248814121C>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.65G>A	1.37:g.248814121C>T	ENSP00000342008:p.Arg22His						p.R22H	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	65	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	22			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000344889.3	37	c.65G>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	3.165	-0.171365	0.06421	.	.	ENSG00000187701	ENST00000344889	T	0.00330	8.08	3.3	-2.13	0.07144	.	0.648018	0.12438	N	0.468964	T	0.00144	0.0004	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15263	-1.0443	10	0.44086	T	0.13	.	9.1012	0.36669	0.0:0.2658:0.0:0.7342	.	22	Q8NH04	O2T27_HUMAN	H	22	ENSP00000342008:R22H	ENSP00000342008:R22H	R	-	2	0	OR2T27	246880744	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-1.058000	0.03482	-0.328000	0.08539	0.194000	0.17425	CGT		0.483	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		13	86	0	0	0	0	13	86				
CCDC6	8030	broad.mit.edu	37	10	61666054	61666054	+	Silent	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr10:61666054A>C	ENST00000263102.6	-	1	360	c.129T>G	c.(127-129)ggT>ggG	p.G43G		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	43	Poly-Gly.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CCGACTTCccaccgccgccgc	0.711			T	RET	NSCLC																																	uc001jks.3		NA		Dom	yes		10	10q21	8030		coiled-coil domain containing 6			E					0				ovary(3)|breast(1)	4						c.(127-129)GGT>GGG		coiled-coil domain containing 6							32.0	37.0	35.0					10																	61666054		2203	4300	6503	SO:0001819	synonymous_variant	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61666054A>C	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.129T>G	10.37:g.61666054A>C							p.G43G	NM_005436	NP_005427	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	1	765	-			43			Poly-Gly.		Q15250|Q6GSG7	Silent	SNP	ENST00000263102.6	37	c.129T>G	CCDS7257.1																																																																																				0.711	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		10	51	0	0	0	0	10	51				
TNKS2	80351	broad.mit.edu	37	10	93602105	93602105	+	Silent	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr10:93602105C>T	ENST00000371627.4	+	16	2395	c.2016C>T	c.(2014-2016)tgC>tgT	p.C672C		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	672					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATGTAAATTGCCGCGATACCC	0.418																																						uc001khp.2		NA																	0				kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(2014-2016)TGC>TGT		tankyrase, TRF1-interacting ankyrin-related							140.0	124.0	129.0					10																	93602105		2203	4300	6503	SO:0001819	synonymous_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93602105C>T	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2016C>T	10.37:g.93602105C>T							p.C672C	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			16	2313	+		Colorectal(252;0.162)	672					B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	c.2016C>T	CCDS7417.1																																																																																				0.418	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		4	44	0	0	0	0	4	44				
PDE6C	5146	broad.mit.edu	37	10	95386572	95386572	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr10:95386572G>T	ENST00000371447.3	+	7	1153	c.1015G>T	c.(1015-1017)Gca>Tca	p.A339S		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	339	GAF 2.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GACGCCTCCTGCAGACCACTG	0.378																																						uc001kiu.3		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1015-1017)GCA>TCA		phosphodiesterase 6C							69.0	71.0	71.0					10																	95386572		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95386572G>T	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1015G>T	10.37:g.95386572G>T	ENSP00000360502:p.Ala339Ser						p.A339S	NM_006204	NP_006195	P51160	PDE6C_HUMAN			7	1153	+		Colorectal(252;0.123)	339			GAF 2.		A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1015G>T	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635078	0.29068	.	.	ENSG00000095464	ENST00000371447	T	0.68479	-0.33	5.55	-0.821	0.10822	GAF (2);	0.372402	0.32901	N	0.005513	T	0.54271	0.1848	L	0.57536	1.79	0.42599	D	0.99327	B	0.33171	0.4	B	0.37198	0.243	T	0.39014	-0.9634	10	0.11485	T	0.65	.	6.4746	0.22028	0.3118:0.0:0.5784:0.1098	.	339	P51160	PDE6C_HUMAN	S	339	ENSP00000360502:A339S	ENSP00000360502:A339S	A	+	1	0	PDE6C	95376562	0.963000	0.33076	0.166000	0.22797	0.862000	0.49288	1.406000	0.34646	-0.059000	0.13154	0.585000	0.79938	GCA		0.378	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		6	39	1	0	8.13e-05	0.000247141	6	39				
C10orf95	79946	broad.mit.edu	37	10	104210810	104210810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr10:104210810C>T	ENST00000239125.1	-	2	252	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000473970.2_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	60	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		CGGCGGCGGCCAGACGCCCTG	0.716																																						uc001kvo.1		NA																	0				liver(1)	1						c.(178-180)GGC>AGC		hypothetical protein LOC79946							6.0	8.0	7.0					10																	104210810		1732	3609	5341	SO:0001583	missense	79946							g.chr10:104210810C>T	AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.178G>A	10.37:g.104210810C>T	ENSP00000239125:p.Gly60Ser					uc001kvp.1_Intron|uc001kvq.1_Intron|uc001kvr.1_5'Flank	p.G60S	NM_024886	NP_079162	Q9H7T3	CJ095_HUMAN		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)	2	253	-		Colorectal(252;0.207)	60			Arg/Pro-rich.		A0AVQ7	Missense_Mutation	SNP	ENST00000239125.1	37	c.178G>A	CCDS7534.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442371	0.63067	.	.	ENSG00000120055	ENST00000239125	.	.	.	4.83	2.93	0.34026	.	0.227921	0.29737	N	0.011339	T	0.31827	0.0809	N	0.08118	0	0.21652	N	0.999609	D	0.89917	1.0	D	0.70487	0.969	T	0.03374	-1.1043	9	0.51188	T	0.08	-29.5654	5.3933	0.16255	0.201:0.6973:0.0:0.1017	.	60	Q9H7T3	CJ095_HUMAN	S	60	.	ENSP00000239125:G60S	G	-	1	0	C10orf95	104200800	0.461000	0.25783	0.940000	0.37924	0.038000	0.13279	0.135000	0.15952	1.321000	0.45227	0.484000	0.47621	GGC		0.716	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050065.1	NM_024886		7	16	0	0	0	0	7	16				
STK33	65975	broad.mit.edu	37	11	8414255	8414255	+	Silent	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:8414255A>C	ENST00000447869.1	-	12	2265	c.1347T>G	c.(1345-1347)tcT>tcG	p.S449S	STK33_ENST00000358872.3_Silent_p.S262S|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Silent_p.S408S|STK33_ENST00000396672.1_Silent_p.S449S|STK33_ENST00000315204.1_Silent_p.S449S|STK33_ENST00000396673.1_Silent_p.S383S			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	449					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CATAAGCAGTAGACTGCAAAT	0.378																																						uc001mgi.1		NA																	0				ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1345-1347)TCT>TCG		serine/threonine kinase 33							72.0	67.0	69.0					11																	8414255		2201	4296	6497	SO:0001819	synonymous_variant	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8414255A>C	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1347T>G	11.37:g.8414255A>C						STK33_uc001mgj.1_Silent_p.S449S|STK33_uc001mgk.1_Silent_p.S449S|STK33_uc010rbn.1_Silent_p.S408S|STK33_uc001mgl.3_Silent_p.S262S	p.S449S	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	12	2266	-			449					Q658S6|Q8NEF5	Silent	SNP	ENST00000447869.1	37	c.1347T>G	CCDS7789.1																																																																																				0.378	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		28	49	0	0	0	0	28	49				
TRIM48	79097	broad.mit.edu	37	11	55032644	55032644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:55032644G>A	ENST00000417545.2	+	2	399	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	89						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTGAGCTCTGAGGAGCAAAT	0.483																																						uc010rid.1		NA																	0					0						c.(313-315)GAG>AAG		tripartite motif-containing 48							93.0	88.0	90.0					11																	55032644		2187	4256	6443	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032644G>A	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.313G>A	11.37:g.55032644G>A	ENSP00000402414:p.Glu105Lys						p.E105K	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	399	+			89			B box-type.		Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.313G>A	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	g	14.05	2.420614	0.42918	.	.	ENSG00000150244	ENST00000417545	T	0.43294	0.95	0.432	0.432	0.16529	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	T	0.45196	0.1330	L	0.44542	1.39	0.21184	N	0.999767	D	0.57899	0.981	D	0.65987	0.94	T	0.29305	-1.0016	9	0.27785	T	0.31	.	2.9332	0.05805	0.3861:0.0:0.6139:0.0	.	89	Q8IWZ4	TRI48_HUMAN	K	105	ENSP00000402414:E105K	ENSP00000402414:E105K	E	+	1	0	TRIM48	54789220	0.069000	0.21087	0.516000	0.27786	0.208000	0.24298	0.593000	0.23999	0.502000	0.28037	0.121000	0.15741	GAG		0.483	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			8	61	0	0	0	0	8	61				
OR4C6	219432	broad.mit.edu	37	11	55433284	55433284	+	Silent	SNP	G	G	A	rs201210743	byFrequency	TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:55433284G>A	ENST00000314259.3	+	1	671	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTTAATTGCGTCCTACACGG	0.517													g|||	2	0.000399361	0.0	0.0	5008	,	,		18516	0.001		0.001	False		,,,				2504	0.0					uc001nht.3		NA																	0				skin(2)	2						c.(640-642)GCG>GCA		olfactory receptor, family 4, subfamily C,		G		0,4400		0,0,2200	139.0	123.0	129.0		642	-1.8	0.0	11		129	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR4C6	NM_001004704.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		214/310	55433284	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433284G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.642G>A	11.37:g.55433284G>A						OR4C6_uc010rik.1_Silent_p.A214A	p.A214A	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	907	+			214			Helical; Name=5; (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.642G>A	CCDS31506.1																																																																																				0.517	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		30	86	0	0	0	0	30	86				
CYB561A3	220002	broad.mit.edu	37	11	61124072	61124072	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:61124072A>T	ENST00000294072.4	-	3	791	c.114T>A	c.(112-114)aaT>aaA	p.N38K	CYB561A3_ENST00000536915.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000426130.2_Missense_Mutation_p.N55K|CYB561A3_ENST00000447532.2_Missense_Mutation_p.N38K|CYB561A3_ENST00000544118.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000546151.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000539890.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000540317.1_Intron	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	38	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										AGATGCTGCCATTCCAGGCAA	0.547																																						uc001nrf.3		NA																	0					0						c.(112-114)AAT>AAA		cytochrome b, ascorbate dependent 3 isoform 2							195.0	166.0	176.0					11																	61124072		2203	4299	6502	SO:0001583	missense	220002				electron transport chain|transport	integral to membrane|late endosome membrane|lysosomal membrane	metal ion binding|oxidoreductase activity	g.chr11:61124072A>T	AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.114T>A	11.37:g.61124072A>T	ENSP00000294072:p.Asn38Lys					CYBASC3_uc010rlh.1_Missense_Mutation_p.N55K|CYBASC3_uc001nrg.2_Missense_Mutation_p.N38K|CYBASC3_uc009ynn.2_RNA|CYBASC3_uc001nrh.2_Missense_Mutation_p.N38K|CYBASC3_uc001nri.2_Intron|CYBASC3_uc009yno.2_Missense_Mutation_p.N38K	p.N38K	NM_001161452	NP_001154924	Q8NBI2	CYAC3_HUMAN			1	290	-			38			Cytochrome b561.		B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	c.114T>A	CCDS8004.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.028471	0.54790	.	.	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000546151;ENST00000544118;ENST00000536915;ENST00000539890;ENST00000542361;ENST00000537364;ENST00000539128;ENST00000545361	T;T;T;T;T;T	0.63096	-0.01;0.0;-0.02;0.0;1.02;1.02	5.38	2.0	0.26442	Cytochrome b561/ferric reductase transmembrane (1);	0.156082	0.56097	D	0.000034	T	0.42562	0.1208	N	0.16130	0.375	0.27638	N	0.947814	B;B;B;B	0.25105	0.009;0.005;0.118;0.003	B;B;B;B	0.24701	0.001;0.001;0.055;0.001	T	0.41502	-0.9505	10	0.72032	D	0.01	-9.7929	9.7737	0.40605	0.6422:0.0:0.3578:0.0	.	55;38;38;38	B4DLN9;F5H0P5;F5H1Q2;Q8NBI2	.;.;.;CYAC3_HUMAN	K	55;38;38;38;38;38;38;38;38;38;38	ENSP00000398979:N55K;ENSP00000294072:N38K;ENSP00000389745:N38K;ENSP00000437390:N38K;ENSP00000443321:N38K;ENSP00000438725:N38K	ENSP00000294072:N38K	N	-	3	2	CYBASC3	60880648	0.921000	0.31238	0.995000	0.50966	0.783000	0.44284	0.209000	0.17435	0.402000	0.25451	0.459000	0.35465	AAT		0.547	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611		24	91	0	0	0	0	24	91				
CYB561A3	220002	broad.mit.edu	37	11	61124075	61124075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:61124075C>A	ENST00000294072.4	-	3	788	c.111G>T	c.(109-111)tgG>tgT	p.W37C	CYB561A3_ENST00000536915.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000426130.2_Missense_Mutation_p.W54C|CYB561A3_ENST00000447532.2_Missense_Mutation_p.W37C|CYB561A3_ENST00000544118.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000546151.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000539890.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000540317.1_Intron	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	37	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										TGCTGCCATTCCAGGCAAAGC	0.547																																						uc001nrf.3		NA																	0					0						c.(109-111)TGG>TGT		cytochrome b, ascorbate dependent 3 isoform 2							192.0	163.0	173.0					11																	61124075		2203	4299	6502	SO:0001583	missense	220002				electron transport chain|transport	integral to membrane|late endosome membrane|lysosomal membrane	metal ion binding|oxidoreductase activity	g.chr11:61124075C>A	AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.111G>T	11.37:g.61124075C>A	ENSP00000294072:p.Trp37Cys					CYBASC3_uc010rlh.1_Missense_Mutation_p.W54C|CYBASC3_uc001nrg.2_Missense_Mutation_p.W37C|CYBASC3_uc009ynn.2_RNA|CYBASC3_uc001nrh.2_Missense_Mutation_p.W37C|CYBASC3_uc001nri.2_Intron|CYBASC3_uc009yno.2_Missense_Mutation_p.W37C	p.W37C	NM_001161452	NP_001154924	Q8NBI2	CYAC3_HUMAN			1	287	-			37			Cytochrome b561.		B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	c.111G>T	CCDS8004.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781269	0.90282	.	.	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000546151;ENST00000544118;ENST00000536915;ENST00000539890;ENST00000542361;ENST00000537364;ENST00000539128;ENST00000545361	T;T;T;T;T;T	0.69435	-0.39;-0.37;-0.4;-0.37;0.69;0.71	5.38	5.38	0.77491	Cytochrome b561/ferric reductase transmembrane (1);	0.061437	0.64402	D	0.000001	D	0.86855	0.6033	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.966;0.972;0.985;0.943	D	0.90180	0.4242	10	0.87932	D	0	-8.2524	19.1582	0.93520	0.0:1.0:0.0:0.0	.	54;37;37;37	B4DLN9;F5H0P5;F5H1Q2;Q8NBI2	.;.;.;CYAC3_HUMAN	C	54;37;37;37;37;37;37;37;37;37;37	ENSP00000398979:W54C;ENSP00000294072:W37C;ENSP00000389745:W37C;ENSP00000437390:W37C;ENSP00000443321:W37C;ENSP00000438725:W37C	ENSP00000294072:W37C	W	-	3	0	CYBASC3	60880651	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.616000	0.67709	2.512000	0.84698	0.561000	0.74099	TGG		0.547	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611		20	90	1	0	2.38e-13	7.9e-13	20	90				
CACNA1C	775	broad.mit.edu	37	12	2224421	2224421	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:2224421T>A	ENST00000347598.4	+	2	81	c.81T>A	c.(79-81)caT>caA	p.H27Q	CACNA1C_ENST00000399641.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399655.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.H27Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.H27Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	27					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)	GCCCCGCCCATGCCAACATGA	0.622																																						uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(79-81)CAT>CAA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						12.0	13.0	12.0					12																	2224421		1878	4081	5959	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.chr12:2224421T>A	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.81T>A	12.37:g.2224421T>A	ENSP00000266376:p.His27Gln					CACNA1C_uc009zdv.1_Missense_Mutation_p.H27Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qke.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.H27Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.H27Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qko.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qku.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qks.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.H27Q	p.H27Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	2	394	+			27			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.81T>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.512907	0.44660	.	.	ENSG00000151067	ENST00000543114;ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95918	-3.78;-3.79;-3.82;-3.78;-3.77;-3.78;-3.8;-3.7;-3.74;-3.79;-3.7;-3.71;-3.79;-3.83;-3.71;-3.63;-3.85;-3.8;-3.78;-3.83;-3.73;-3.82;-3.85	5.77	-0.518	0.11943	.	0.165964	0.37530	N	0.002056	D	0.87172	0.6111	N	0.08118	0	0.25548	N	0.987118	P;P;B;P;B;P;B;B;P;B;P;B;B;P;B;P;B;P;P;P	0.45396	0.51;0.701;0.384;0.857;0.255;0.701;0.178;0.178;0.701;0.386;0.701;0.178;0.019;0.701;0.279;0.701;0.178;0.467;0.701;0.701	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44044	0.201;0.346;0.081;0.439;0.109;0.346;0.086;0.086;0.346;0.124;0.346;0.086;0.023;0.346;0.086;0.346;0.086;0.26;0.346;0.346	T	0.82587	-0.0383	10	0.41790	T	0.15	.	6.397	0.21618	0.0:0.3646:0.1312:0.5042	.	27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	57;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27;27	ENSP00000336982:H27Q;ENSP00000382563:H27Q;ENSP00000437936:H27Q;ENSP00000382552:H27Q;ENSP00000382547:H27Q;ENSP00000382506:H27Q;ENSP00000382530:H27Q;ENSP00000382546:H27Q;ENSP00000382500:H27Q;ENSP00000382549:H27Q;ENSP00000266376:H27Q;ENSP00000382515:H27Q;ENSP00000382510:H27Q;ENSP00000341092:H27Q;ENSP00000382537:H27Q;ENSP00000329877:H27Q;ENSP00000382557:H27Q;ENSP00000385724:H27Q;ENSP00000382512:H27Q;ENSP00000382542:H27Q;ENSP00000382526:H27Q;ENSP00000385896:H27Q;ENSP00000382504:H27Q	ENSP00000329877:H27Q	H	+	3	2	CACNA1C	2094682	0.219000	0.23619	0.997000	0.53966	0.931000	0.56810	-0.856000	0.04290	-0.092000	0.12417	0.454000	0.30748	CAT		0.622	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		6	9	0	0	0	0	6	9				
ETV6	2120	broad.mit.edu	37	12	12022466	12022466	+	Missense_Mutation	SNP	G	G	A	rs201820837		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:12022466G>A	ENST00000396373.4	+	5	846	c.572G>A	c.(571-573)cGg>cAg	p.R191Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	191					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACAAATCACCGGCCTTCTCCT	0.642			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2		NA		Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	0				soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(571-573)CGG>CAG		ets variant 6							170.0	183.0	179.0					12																	12022466		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022466G>A	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.572G>A	12.37:g.12022466G>A	ENSP00000379658:p.Arg191Gln					ETV6_uc001raa.1_5'UTR	p.R191Q	NM_001987	NP_001978	P41212	ETV6_HUMAN			5	846	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	191					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.572G>A	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816212	0.32145	.	.	ENSG00000139083	ENST00000396373	T	0.03920	3.76	5.38	5.38	0.77491	.	0.193866	0.46442	D	0.000286	T	0.04092	0.0114	L	0.47716	1.5	0.36243	D	0.853425	P	0.35959	0.53	B	0.23716	0.048	T	0.35847	-0.9772	10	0.08599	T	0.76	.	12.1475	0.54031	0.0787:0.0:0.9213:0.0	.	191	P41212	ETV6_HUMAN	Q	191	ENSP00000379658:R191Q	ENSP00000379658:R191Q	R	+	2	0	ETV6	11913733	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	5.692000	0.68256	2.514000	0.84764	0.655000	0.94253	CGG		0.642	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		56	336	0	0	0	0	56	336				
PDE3A	5139	broad.mit.edu	37	12	20832977	20832977	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:20832977C>G	ENST00000359062.3	+	16	3238	c.3198C>G	c.(3196-3198)ttC>ttG	p.F1066L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1066	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AGAAGACTTTCAAAAGGAGAA	0.358																																						uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(3196-3198)TTC>TTG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						36.0	36.0	36.0					12																	20832977		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20832977C>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3198C>G	12.37:g.20832977C>G	ENSP00000351957:p.Phe1066Leu						p.F1066L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			16	3220	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1066			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.3198C>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	2.451	-0.326321	0.05350	.	.	ENSG00000172572	ENST00000359062	T	0.75589	-0.95	5.72	4.83	0.62350	.	0.749718	0.12764	N	0.441136	T	0.67221	0.2870	L	0.51422	1.61	0.32849	D	0.506368	B	0.32071	0.355	B	0.29862	0.108	T	0.66388	-0.5936	10	0.12103	T	0.63	.	13.6447	0.62275	0.0:0.926:0.0:0.074	.	1066	Q14432	PDE3A_HUMAN	L	1066	ENSP00000351957:F1066L	ENSP00000351957:F1066L	F	+	3	2	PDE3A	20724244	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	0.740000	0.26188	1.413000	0.46997	0.655000	0.94253	TTC		0.358	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			7	57	0	0	0	0	7	57				
ABCC9	10060	broad.mit.edu	37	12	21967641	21967641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:21967641G>A	ENST00000261201.4	-	33	4038	c.4039C>T	c.(4039-4041)Cgc>Tgc	p.R1347C	ABCC9_ENST00000261200.4_Missense_Mutation_p.R1347C|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1311C	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1347	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTGCCAGTGCGACCACATATG	0.388																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(4039-4041)CGC>TGC		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						109.0	101.0	104.0					12																	21967641		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21967641G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4039C>T	12.37:g.21967641G>A	ENSP00000261201:p.Arg1347Cys					ABCC9_uc001rfh.2_Missense_Mutation_p.R1347C|ABCC9_uc001rfj.1_Missense_Mutation_p.R1311C	p.R1347C	NM_005691	NP_005682	O60706	ABCC9_HUMAN			33	4059	-			1347			Cytoplasmic (Potential).|ATP 2 (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4039C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171658	0.78452	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	4.74	4.74	0.60224	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99509	1.0955	10	0.87932	D	0	-8.6475	17.9259	0.88983	0.0:0.0:1.0:0.0	.	1347;1347	O60706;O60706-2	ABCC9_HUMAN;.	C	1347;974;1347;1311	ENSP00000261200:R1347C;ENSP00000440521:R974C;ENSP00000261201:R1347C;ENSP00000261202:R1311C	ENSP00000261200:R1347C	R	-	1	0	ABCC9	21858908	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.231000	0.58639	2.441000	0.82636	0.650000	0.86243	CGC		0.388	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		8	47	0	0	0	0	8	47				
RASAL1	8437	broad.mit.edu	37	12	113537802	113537802	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:113537802C>A	ENST00000261729.5	-	22	2662	c.2347G>T	c.(2347-2349)Gat>Tat	p.D783Y	RASAL1_ENST00000446861.3_Missense_Mutation_p.D755Y|RASAL1_ENST00000546530.1_Missense_Mutation_p.D785Y|RASAL1_ENST00000548055.1_Missense_Mutation_p.D784Y			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	783					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)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGGCACGATCCAGGTCTGCG	0.677																																						uc001tum.1		NA																	0				ovary(2)|skin(2)	4						c.(2347-2349)GAT>TAT		RAS protein activator like 1							34.0	40.0	38.0					12																	113537802		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113537802C>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.2347G>T	12.37:g.113537802C>A	ENSP00000261729:p.Asp783Tyr					RASAL1_uc010syp.1_Missense_Mutation_p.D784Y|RASAL1_uc001tul.2_Missense_Mutation_p.D755Y|RASAL1_uc001tun.1_Missense_Mutation_p.D785Y	p.D783Y	NM_004658	NP_004649	O95294	RASL1_HUMAN			22	2640	-			783					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.2347G>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	c	18.58	3.654523	0.67472	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.70399	-0.48;-0.41;-0.38;-0.48	5.4	5.4	0.78164	.	0.178882	0.46758	D	0.000265	T	0.78065	0.4225	L	0.44542	1.39	0.43698	D	0.996151	D;D;P;D	0.58620	0.983;0.964;0.836;0.983	P;P;P;P	0.62740	0.906;0.805;0.491;0.906	T	0.79799	-0.1651	10	0.72032	D	0.01	.	16.1599	0.81698	0.0:1.0:0.0:0.0	.	784;785;783;755	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	Y	785;783;755;784	ENSP00000450244:D785Y;ENSP00000261729:D783Y;ENSP00000395920:D755Y;ENSP00000448510:D784Y	ENSP00000261729:D783Y	D	-	1	0	RASAL1	112022185	1.000000	0.71417	0.994000	0.49952	0.213000	0.24496	3.946000	0.56644	2.543000	0.85770	0.450000	0.29827	GAT		0.677	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		13	34	1	0	5.51e-06	1.71e-05	13	34				
DIS3	22894	broad.mit.edu	37	13	73346872	73346872	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr13:73346872G>A	ENST00000377767.4	-	9	1445	c.1345C>T	c.(1345-1347)Ctt>Ttt	p.L449F	DIS3_ENST00000545453.1_Missense_Mutation_p.L287F|DIS3_ENST00000377780.4_Missense_Mutation_p.L419F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	449					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AGAAAACTAAGAACAGCCTGT	0.363										Multiple Myeloma(4;0.011)																												uc001vix.3		NA																	0				central_nervous_system(1)	1						c.(1345-1347)CTT>TTT		DIS3 mitotic control isoform a							111.0	113.0	112.0					13																	73346872		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73346872G>A	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1345C>T	13.37:g.73346872G>A	ENSP00000366997:p.Leu449Phe	Multiple Myeloma(4;0.011)				DIS3_uc001viy.3_Missense_Mutation_p.L419F|DIS3_uc001viz.2_RNA	p.L449F	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	9	1719	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	449					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1345C>T	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543899	0.86022	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.44083	0.93;0.93;0.93	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.90145	3.09	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.74348	0.983;0.949	T	0.77536	-0.2551	10	0.66056	D	0.02	.	19.7889	0.96450	0.0:0.0:1.0:0.0	.	419;449	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	F	449;419;287	ENSP00000366997:L449F;ENSP00000367011:L419F;ENSP00000440058:L287F	ENSP00000366997:L449F	L	-	1	0	DIS3	72244873	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	7.407000	0.80029	2.734000	0.93682	0.655000	0.94253	CTT		0.363	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		4	98	0	0	0	0	4	98				
PCCA	5095	broad.mit.edu	37	13	100861712	100861712	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr13:100861712G>A	ENST00000376285.1	+	7	633	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	PCCA_ENST00000376286.4_Missense_Mutation_p.V173I|PCCA_ENST00000376279.3_Missense_Mutation_p.V199I	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	199	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|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)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGATGGAGTAGTCAAGGTGAG	0.338																																						uc001voo.2		NA																	0				skin(2)	2						c.(595-597)GTC>ATC		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)						128.0	114.0	119.0					13																	100861712		2203	4300	6503	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100861712G>A	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.595G>A	13.37:g.100861712G>A	ENSP00000365462:p.Val199Ile					PCCA_uc010aga.2_Missense_Mutation_p.V173I|PCCA_uc010tiz.1_Missense_Mutation_p.V199I	p.V199I	NM_000282	NP_000273	P05165	PCCA_HUMAN			7	633	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		199			ATP-grasp.|Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.595G>A	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	9.164	1.019335	0.19355	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97959	-4.63;-4.63;-4.63	4.92	4.92	0.64577	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	N	0.17345	0.48	0.80722	D	1	B;B;B	0.25521	0.055;0.044;0.128	B;B;B	0.34779	0.189;0.074;0.189	D	0.90815	0.4704	10	0.02654	T	1	.	18.1166	0.89558	0.0:0.0:1.0:0.0	.	199;173;199	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	I	173;199;199	ENSP00000365463:V173I;ENSP00000365456:V199I;ENSP00000365462:V199I	ENSP00000365456:V199I	V	+	1	0	PCCA	99659713	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.617000	0.98361	2.266000	0.75297	0.655000	0.94253	GTC		0.338	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			10	63	0	0	0	0	10	63				
NEIL1	79661	broad.mit.edu	37	15	75641409	75641409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr15:75641409G>A	ENST00000564784.1	+	3	792	c.163G>A	c.(163-165)Gag>Aag	p.E55K	NEIL1_ENST00000569035.1_Missense_Mutation_p.E55K|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Missense_Mutation_p.E55K			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	55					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CCGCGGCAAGGAGCTGCGCCT	0.647								Base excision repair (BER), DNA glycosylases																														uc002bad.2		NA																	0				ovary(1)	1						c.(163-165)GAG>AAG	BER_DNA_glycosylases	nei endonuclease VIII-like 1							42.0	37.0	38.0					15																	75641409		2197	4293	6490	SO:0001583	missense	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75641409G>A	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.163G>A	15.37:g.75641409G>A	ENSP00000457352:p.Glu55Lys					NEIL1_uc002bae.2_Missense_Mutation_p.E141K	p.E55K	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN			2	669	+			55					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	ENST00000564784.1	37	c.163G>A	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	G	35	5.470451	0.96274	.	.	ENSG00000140398	ENST00000355059;ENST00000336572	T	0.30448	1.53	5.4	5.4	0.78164	DNA glycosylase/AP lyase, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65117	-0.6246	10	0.87932	D	0	-38.8992	18.146	0.89655	0.0:0.0:1.0:0.0	.	55	Q96FI4	NEIL1_HUMAN	K	55	ENSP00000347170:E55K	ENSP00000338328:E55K	E	+	1	0	NEIL1	73428462	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	8.851000	0.92205	2.525000	0.85131	0.561000	0.74099	GAG		0.647	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		4	49	0	0	0	0	4	49				
KIAA1024	23251	broad.mit.edu	37	15	79750590	79750590	+	Nonsense_Mutation	SNP	A	A	T	rs369027269		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr15:79750590A>T	ENST00000305428.3	+	2	2176	c.2101A>T	c.(2101-2103)Aaa>Taa	p.K701*		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	701						integral component of membrane (GO:0016021)		p.K701*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCCTTAAAAAAAAGCCTCTT	0.552																																						uc002bew.1		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2101-2103)AAA>TAA		hypothetical protein LOC23251							116.0	113.0	114.0					15																	79750590		2196	4293	6489	SO:0001587	stop_gained	23251					integral to membrane		g.chr15:79750590A>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2101A>T	15.37:g.79750590A>T	ENSP00000307461:p.Lys701*					KIAA1024_uc010unk.1_Nonsense_Mutation_p.K701*	p.K701*	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	2176	+			701					A7MD43	Nonsense_Mutation	SNP	ENST00000305428.3	37	c.2101A>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	A	37	5.992758	0.97179	.	.	ENSG00000169330	ENST00000305428	.	.	.	5.68	4.52	0.55395	.	0.048949	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7303	0.57195	0.8625:0.1375:0.0:0.0	.	.	.	.	X	701	.	.	K	+	1	0	KIAA1024	77537645	1.000000	0.71417	0.087000	0.20705	0.306000	0.27790	6.714000	0.74692	0.933000	0.37291	0.533000	0.62120	AAA		0.552	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		12	108	0	0	0	0	12	108				
PKD1	5310	broad.mit.edu	37	16	2159543	2159543	+	Silent	SNP	G	G	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:2159543G>C	ENST00000262304.4	-	15	5833	c.5625C>G	c.(5623-5625)gtC>gtG	p.V1875V	PKD1_ENST00000423118.1_Silent_p.V1875V|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1875	PKD 14. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGTGGCTGAGACCCAGCTGA	0.652																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(5623-5625)GTC>GTG		polycystin 1 isoform 1 precursor							23.0	19.0	21.0					16																	2159543		2183	4289	6472	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2159543G>C	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5625C>G	16.37:g.2159543G>C						PKD1_uc002cot.1_Silent_p.V1875V	p.V1875V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	5834	-			1875			PKD 14.|Extracellular (Potential).		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.5625C>G	CCDS32369.1																																																																																				0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			8	13	0	0	0	0	8	13				
ALG1	56052	broad.mit.edu	37	16	5127458	5127458	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:5127458C>A	ENST00000262374.5	+	5	583	c.552C>A	c.(550-552)ttC>ttA	p.F184L	ALG1_ENST00000588623.1_Missense_Mutation_p.F73L|ALG1_ENST00000544428.1_Missense_Mutation_p.F73L	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	184					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ACGAGAAGTTCTTTGGGCGCC	0.552																																						uc002cym.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(550-552)TTC>TTA		beta-1,4-mannosyltransferase							102.0	92.0	95.0					16																	5127458		2197	4300	6497	SO:0001583	missense	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5127458C>A	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.552C>A	16.37:g.5127458C>A	ENSP00000262374:p.Phe184Leu					ALG1_uc002cyj.2_Missense_Mutation_p.F73L|ALG1_uc002cyn.2_Missense_Mutation_p.F184L|ALG1_uc010bue.2_Missense_Mutation_p.F73L|ALG1_uc010uxy.1_Missense_Mutation_p.F73L	p.F184L	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN			5	593	+		Ovarian(90;0.0164)	184			Lumenal (Potential).		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	c.552C>A	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	C	7.465	0.645465	0.14451	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	D;D	0.81821	-1.54;-1.54	5.79	1.19	0.21007	.	0.528419	0.21944	N	0.066824	T	0.56455	0.1986	N	0.12182	0.205	0.36099	D	0.844024	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.41680	-0.9495	10	0.12430	T	0.62	-8.746	5.0374	0.14441	0.0:0.4835:0.3221:0.1944	.	73;184	B4DP08;Q9BT22	.;ALG1_HUMAN	L	184;73	ENSP00000262374:F184L;ENSP00000440019:F73L	ENSP00000262374:F184L	F	+	3	2	ALG1	5067459	0.917000	0.31117	0.247000	0.24249	0.479000	0.33129	0.044000	0.13992	0.296000	0.22592	0.561000	0.74099	TTC		0.552	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		19	100	1	0	1.02e-10	3.35e-10	19	100				
RNF40	9810	broad.mit.edu	37	16	30779808	30779808	+	Silent	SNP	C	C	A	rs375038841		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:30779808C>A	ENST00000324685.6	+	13	2371	c.1936C>A	c.(1936-1938)Cgg>Agg	p.R646R	RNF40_ENST00000357890.5_Silent_p.R546R|RNF40_ENST00000402121.3_Silent_p.R338R|RNF40_ENST00000563683.1_Silent_p.R606R	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	646					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAAACCAAGCGGAAGGAATC	0.597																																						uc002dzq.2		NA																	0				central_nervous_system(1)	1						c.(1936-1938)CGG>AGG		ring finger protein 40							69.0	84.0	79.0					16																	30779808		2158	4273	6431	SO:0001819	synonymous_variant	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30779808C>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1936C>A	16.37:g.30779808C>A						RNF40_uc010caa.2_Silent_p.R646R|RNF40_uc010cab.2_Silent_p.R546R|RNF40_uc010vfa.1_5'UTR|RNF40_uc002dzr.2_Silent_p.R646R|RNF40_uc010vfb.1_Silent_p.R338R|RNF40_uc010vfc.1_5'UTR	p.R646R	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		13	2059	+			646			Potential.		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	c.1936C>A	CCDS10691.1																																																																																				0.597	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		4	75	1	0	0.00024832	0.000751641	4	75				
ANKRD11	29123	broad.mit.edu	37	16	89348419	89348419	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:89348419G>A	ENST00000301030.4	-	9	4991	c.4531C>T	c.(4531-4533)Ccc>Tcc	p.P1511S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1511S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1511	Lys-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)		AGCACGCGGGGCGGGCTGTCC	0.632																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4531-4533)CCC>TCC		ankyrin repeat domain 11							61.0	57.0	58.0					16																	89348419		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348419G>A	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.4531C>T	16.37:g.89348419G>A	ENSP00000301030:p.Pro1511Ser					ANKRD11_uc002fmy.1_Missense_Mutation_p.P1511S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1511S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1468S	p.P1511S	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	4992	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1511			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4531C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	9.526	1.109559	0.20714	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.35789	1.29;1.29	4.92	2.89	0.33648	.	0.445572	0.21948	N	0.066771	T	0.30854	0.0778	L	0.47716	1.5	0.48830	D	0.999711	B	0.23442	0.085	B	0.19666	0.026	T	0.08827	-1.0703	10	0.51188	T	0.08	.	11.0281	0.47757	0.0:0.1396:0.7154:0.145	.	1511	Q6UB99	ANR11_HUMAN	S	1511	ENSP00000301030:P1511S;ENSP00000367581:P1511S	ENSP00000301030:P1511S	P	-	1	0	ANKRD11	87875920	1.000000	0.71417	0.001000	0.08648	0.054000	0.15201	3.841000	0.55850	0.539000	0.28788	0.563000	0.77884	CCC		0.632	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		4	66	0	0	0	0	4	66				
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:7578534C>G	ENST00000269305.4	-	5	585	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000420246.2_Missense_Mutation_p.K132N	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)	GGCAAAACATCTTGTTGAGGG	0.562		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		77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(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.(394-396)AAG>AAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	48.0	48.0					17																	7578534		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.chr17:7578534C>G	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.396G>C	17.37:g.7578534C>G	ENSP00000269305:p.Lys132Asn	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_Missense_Mutation_p.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N	p.K132N	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	590	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||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.396G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123172	0.77436	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	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	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	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	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	15	0	0	0	0	17	15				
MYH2	4620	broad.mit.edu	37	17	10447033	10447033	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:10447033G>A	ENST00000245503.5	-	8	1120	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R246C|MYH2_ENST00000532183.2_Missense_Mutation_p.R246C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	246	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTACAAAGCGAGAGGAGTTG	0.448																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(736-738)CGC>TGC		myosin heavy chain IIa							96.0	94.0	95.0					17																	10447033		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10447033G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.736C>T	17.37:g.10447033G>A	ENSP00000245503:p.Arg246Cys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R246C|MYH2_uc010coj.2_Missense_Mutation_p.R246C	p.R246C	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			8	864	-			246			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.736C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106712	0.94292	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.84660	-1.88;-1.88;-1.88	5.01	5.01	0.66863	Myosin head, motor domain (3);	0.000000	0.40144	U	0.001162	D	0.96803	0.8956	H	0.99978	5.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.98863	1.0763	10	0.87932	D	0	.	17.4852	0.87685	0.0:0.0:1.0:0.0	.	246;246	Q567P6;Q9UKX2	.;MYH2_HUMAN	C	246	ENSP00000433944:R246C;ENSP00000245503:R246C;ENSP00000380367:R246C	ENSP00000245503:R246C	R	-	1	0	MYH2	10387758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.337000	0.65941	2.609000	0.88269	0.655000	0.94253	CGC		0.448	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		6	54	0	0	0	0	6	54				
TOP2A	7153	broad.mit.edu	37	17	38552685	38552685	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:38552685T>G	ENST00000423485.1	-	28	3728	c.3570A>C	c.(3568-3570)caA>caC	p.Q1190H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1190					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GAAGTCCGACTTGTTCATCTT	0.413																																						uc002huq.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(3568-3570)CAA>CAC		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						120.0	112.0	114.0					17																	38552685		1833	4089	5922	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38552685T>G		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3570A>C	17.37:g.38552685T>G	ENSP00000411532:p.Gln1190His						p.Q1190H	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		28	3696	-		Breast(137;0.00328)	1190					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.3570A>C	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.921994	0.52653	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.23552	1.9	5.93	5.93	0.95920	DNA topoisomerase, type IIA, central (1);	0.646655	0.16599	N	0.207416	T	0.26412	0.0645	L	0.60455	1.87	0.22866	N	0.998635	P	0.44986	0.847	B	0.42738	0.396	T	0.39313	-0.9620	10	0.46703	T	0.11	.	5.7641	0.18217	0.1409:0.1065:0.0:0.7526	.	1190	P11388	TOP2A_HUMAN	H	1190;1270;1213;1226	ENSP00000411532:Q1190H	ENSP00000269577:Q1270H	Q	-	3	2	TOP2A	35806211	0.711000	0.27906	0.960000	0.40013	0.783000	0.44284	1.183000	0.32041	2.263000	0.75096	0.533000	0.62120	CAA		0.413	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			12	108	0	0	0	0	12	108				
STXBP4	252983	broad.mit.edu	37	17	53158448	53158448	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:53158448A>C	ENST00000376352.2	+	16	1600	c.1393A>C	c.(1393-1395)Aca>Cca	p.T465P	STXBP4_ENST00000434978.2_Missense_Mutation_p.T443P	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	465					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						GACTTCCCTCACACCACTGGG	0.393																																						uc002iuf.1		NA																	0				ovary(1)	1						c.(1393-1395)ACA>CCA		syntaxin binding protein 4							143.0	129.0	134.0					17																	53158448		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53158448A>C	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.1393A>C	17.37:g.53158448A>C	ENSP00000365530:p.Thr465Pro					STXBP4_uc010dcd.1_Missense_Mutation_p.T443P	p.T465P	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN			16	1600	+			465					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.1393A>C	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	A	0.993	-0.693511	0.03303	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.38401	1.14;1.14	5.48	-2.85	0.05734	.	0.563206	0.20430	N	0.092489	T	0.10121	0.0248	N	0.04090	-0.28	0.09310	N	0.999998	B;B	0.13145	0.0;0.007	B;B	0.11329	0.001;0.006	T	0.18493	-1.0335	10	0.12430	T	0.62	-1.2329	0.6245	0.00783	0.3821:0.2499:0.1533:0.2148	.	443;465	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	P	465;443	ENSP00000365530:T465P;ENSP00000391087:T443P	ENSP00000365530:T465P	T	+	1	0	STXBP4	50513447	0.000000	0.05858	0.009000	0.14445	0.011000	0.07611	0.107000	0.15375	-0.342000	0.08363	-0.256000	0.11100	ACA		0.393	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		4	47	0	0	0	0	4	47				
STRADA	92335	broad.mit.edu	37	17	61781730	61781730	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:61781730C>A	ENST00000336174.6	-	11	1183	c.1071G>T	c.(1069-1071)gaG>gaT	p.E357D	STRADA_ENST00000447001.3_Intron|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000392950.4_Missense_Mutation_p.E320D|STRADA_ENST00000582137.1_Intron|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000579340.1_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000375840.4_Missense_Mutation_p.E299D	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	357	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						GAAGGCACTGCTCCACAAAGT	0.662																																						uc002jbm.2		NA																	0				ovary(1)	1						c.(1069-1071)GAG>GAT		STE20-related kinase adaptor alpha isoform 1							20.0	20.0	20.0					17																	61781730		2203	4300	6503	SO:0001583	missense	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.chr17:61781730C>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.1071G>T	17.37:g.61781730C>A	ENSP00000336655:p.Glu357Asp					STRADA_uc002jbn.2_Missense_Mutation_p.E299D|STRADA_uc002jbo.2_Missense_Mutation_p.E320D|STRADA_uc002jbp.2_Missense_Mutation_p.E320D|STRADA_uc002jbq.2_Missense_Mutation_p.E299D|STRADA_uc010wpq.1_Intron|STRADA_uc010wpr.1_Intron|STRADA_uc010ddw.2_Missense_Mutation_p.E328D|STRADA_uc002jbr.2_3'UTR	p.E357D	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN			11	1230	-			357			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	c.1071G>T	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511748	0.64522	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000392950;ENST00000245865	T;T;T	0.66995	-0.24;-0.24;-0.24	5.0	1.83	0.25207	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047806	0.85682	D	0.000000	T	0.56891	0.2016	N	0.25060	0.705	0.80722	D	1	P;P;P;P	0.40578	0.722;0.634;0.675;0.549	B;B;B;P	0.45998	0.432;0.367;0.42;0.5	T	0.59616	-0.7421	10	0.66056	D	0.02	.	10.9671	0.47418	0.0:0.7892:0.0:0.2108	.	299;320;320;357	Q5JPI2;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;STRAA_HUMAN	D	357;299;320;319	ENSP00000336655:E357D;ENSP00000365000:E299D;ENSP00000376677:E320D	ENSP00000245865:E319D	E	-	3	2	STRADA	59135462	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.742000	0.38248	0.681000	0.31386	-0.254000	0.11334	GAG		0.662	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			4	25	1	0	0.00116845	0.00344411	4	25				
AXIN2	8313	broad.mit.edu	37	17	63526139	63526139	+	Silent	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:63526139C>T	ENST00000375702.5	-	9	2400	c.2292G>A	c.(2290-2292)ccG>ccA	p.P764P	AXIN2_ENST00000307078.5_Silent_p.P829P			Q9Y2T1	AXIN2_HUMAN	axin 2	829	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTTCATACATCGGGAGCACCG	0.507									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2485-2487)CCG>CCA		axin 2							130.0	113.0	119.0					17																	63526139		2203	4300	6503	SO:0001819	synonymous_variant	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63526139C>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.2292G>A	17.37:g.63526139C>T						AXIN2_uc002jfh.2_Silent_p.P764P	p.P829P	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			11	2776	-			829			DIX.		Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.2487G>A																																																																																					0.507	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		15	88	0	0	0	0	15	88				
GPS1	2873	broad.mit.edu	37	17	80013938	80013938	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:80013938G>A	ENST00000306823.6	+	8	931	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	GPS1_ENST00000320548.4_Missense_Mutation_p.R283Q|GPS1_ENST00000392358.2_Missense_Mutation_p.R339Q|GPS1_ENST00000578552.1_Missense_Mutation_p.R299Q|GPS1_ENST00000355130.2_Missense_Mutation_p.R339Q			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	303					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACCTTTGACCGGCAGGAGCTG	0.657																																						uc002kdl.1		NA																	0				central_nervous_system(1)	1						c.(907-909)CGG>CAG		G protein pathway suppressor 1 isoform 2							36.0	30.0	32.0					17																	80013938		2200	4298	6498	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80013938G>A		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.908G>A	17.37:g.80013938G>A	ENSP00000302873:p.Arg303Gln					GPS1_uc002kdk.1_Missense_Mutation_p.R339Q|GPS1_uc010dij.1_Missense_Mutation_p.R338Q|GPS1_uc002kdm.1_Missense_Mutation_p.R283Q|GPS1_uc002kdn.1_Missense_Mutation_p.R299Q|GPS1_uc002kdo.1_Missense_Mutation_p.R302Q|GPS1_uc010wvh.1_Missense_Mutation_p.R295Q	p.R303Q	NM_004127	NP_004118	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		8	953	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		303					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.908G>A	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	g	36	5.665530	0.96745	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	D	0.86560	0.5962	H	0.94734	3.575	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;1.0;0.999;0.999;1.0;1.0	D	0.91002	0.4843	9	0.87932	D	0	-35.0465	16.7173	0.85400	0.0:0.0:1.0:0.0	.	295;338;288;299;303;339	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	Q	339;289;303;339	.	ENSP00000302873:R303Q	R	+	2	0	GPS1	77607227	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.003000	0.93577	2.177000	0.69029	0.558000	0.71614	CGG		0.657	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		4	29	0	0	0	0	4	29				
LAMA1	284217	broad.mit.edu	37	18	7043287	7043287	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr18:7043287A>C	ENST00000389658.3	-	8	1187	c.1094T>G	c.(1093-1095)tTg>tGg	p.L365W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	365	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)				GGTGTTCTGCAAGCAATTTAT	0.388																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(1093-1095)TTG>TGG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						277.0	244.0	255.0					18																	7043287		2203	4300	6503	SO:0001583	missense	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.chr18:7043287A>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.1094T>G	18.37:g.7043287A>C	ENSP00000374309:p.Leu365Trp					LAMA1_uc010wzj.1_5'UTR	p.L365W	NM_005559	NP_005550	P25391	LAMA1_HUMAN			8	1188	-		Colorectal(10;0.172)	365			Laminin EGF-like 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1094T>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.504309	0.44558	.	.	ENSG00000101680	ENST00000389658	T	0.62498	0.02	5.76	-11.4	0.00090	EGF-like, laminin (4);	1.670350	0.03661	N	0.242551	T	0.65491	0.2696	M	0.69358	2.11	0.09310	N	1	D	0.71674	0.998	P	0.59948	0.866	T	0.71580	-0.4550	10	0.72032	D	0.01	.	4.8324	0.13447	0.1089:0.0926:0.1815:0.617	.	365	P25391	LAMA1_HUMAN	W	365	ENSP00000374309:L365W	ENSP00000374309:L365W	L	-	2	0	LAMA1	7033287	0.000000	0.05858	0.470000	0.27216	0.198000	0.23893	-1.231000	0.02939	-1.334000	0.02244	-1.437000	0.01076	TTG		0.388	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		58	145	0	0	0	0	58	145				
DCC	1630	broad.mit.edu	37	18	50977000	50977000	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr18:50977000T>G	ENST00000442544.2	+	23	3976	c.3360T>G	c.(3358-3360)atT>atG	p.I1120M	DCC_ENST00000581580.1_Missense_Mutation_p.I755M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1120					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)		TGGCTGTGATTTGCACCCGAC	0.488																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3358-3360)ATT>ATG		netrin receptor DCC precursor							117.0	93.0	101.0					18																	50977000		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.chr18:50977000T>G	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.3360T>G	18.37:g.50977000T>G	ENSP00000389140:p.Ile1120Met					DCC_uc010dpf.1_Missense_Mutation_p.I755M	p.I1120M	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3947	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1120			Helical; (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3360T>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717817	0.30413	.	.	ENSG00000187323	ENST00000442544	T	0.53423	0.62	5.67	-1.54	0.08584	.	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	L	0.50333	1.59	0.35202	D	0.774365	D	0.67145	0.996	D	0.64237	0.923	T	0.56105	-0.8034	10	0.42905	T	0.14	-4.9328	6.2496	0.20837	0.1313:0.2996:0.0:0.5691	.	1120	P43146	DCC_HUMAN	M	1120	ENSP00000389140:I1120M	ENSP00000389140:I1120M	I	+	3	3	DCC	49230998	0.991000	0.36638	0.997000	0.53966	0.974000	0.67602	0.239000	0.18023	-0.102000	0.12197	0.528000	0.53228	ATT		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		6	36	0	0	0	0	6	36				
AP3D1	8943	broad.mit.edu	37	19	2121250	2121250	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:2121250C>T	ENST00000345016.5	-	13	1393	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000355272.6_Missense_Mutation_p.E388K|AP3D1_ENST00000350812.6_Missense_Mutation_p.E219K|AP3D1_ENST00000356926.4_Missense_Mutation_p.E297K	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	388					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GTGGTACCCTCTGCCTTGTCT	0.542																																						uc002luz.2		NA																	0					0						c.(1162-1164)GAG>AAG		adaptor-related protein complex 3, delta 1							212.0	229.0	223.0					19																	2121250		2175	4258	6433	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2121250C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1162G>A	19.37:g.2121250C>T	ENSP00000344055:p.Glu388Lys					AP3D1_uc002luy.2_Missense_Mutation_p.E297K|AP3D1_uc002lva.2_Missense_Mutation_p.E388K	p.E388K	NM_003938	NP_003929	O14617	AP3D1_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)	13	1385	-		Hepatocellular(1079;0.137)	388			HEAT 8.		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1162G>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183571	0.94885	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.73	4.73	0.59995	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.78916	2.43	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.997	D;D;D	0.76575	0.91;0.988;0.971	T	0.62909	-0.6754	10	0.59425	D	0.04	-51.4874	16.6679	0.85258	0.0:1.0:0.0:0.0	.	388;388;297	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	K	297;388;388;388;219	ENSP00000349398:E297K;ENSP00000344055:E388K;ENSP00000347416:E388K;ENSP00000342321:E219K	ENSP00000341579:E388K	E	-	1	0	AP3D1	2072250	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	7.635000	0.83286	2.177000	0.69029	0.462000	0.41574	GAG		0.542	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			6	69	0	0	0	0	6	69				
ZNF823	55552	broad.mit.edu	37	19	11832973	11832973	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:11832973T>G	ENST00000341191.6	-	4	1529	c.1376A>C	c.(1375-1377)cAa>cCa	p.Q459P	ZNF823_ENST00000545749.1_Missense_Mutation_p.Q277P	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CTCATGATTTTGAAAGGAAGA	0.423										HNSCC(68;0.2)																												uc002msm.2		NA																	0				ovary(2)	2						c.(1375-1377)CAA>CCA		ZFP-36 for a zinc finger protein							70.0	80.0	77.0					19																	11832973		2203	4300	6503	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832973T>G	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1376A>C	19.37:g.11832973T>G	ENSP00000340683:p.Gln459Pro	HNSCC(68;0.2)				ZNF823_uc010xmd.1_Missense_Mutation_p.Q277P|ZNF823_uc010dyi.1_Missense_Mutation_p.Q415P	p.Q459P	NM_001080493	NP_001073962	P16415	ZN823_HUMAN			4	1502	-			459			C2H2-type 11; atypical.		A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.1376A>C	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	N	12.35	1.910870	0.33721	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.36157	1.27;2.15;1.27	0.816	-0.32	0.12721	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39358	0.1075	L	0.38531	1.155	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.23511	-1.0186	9	0.27082	T	0.32	.	2.1492	0.03795	0.0:0.2556:0.3284:0.416	.	459	P16415	ZN823_HUMAN	P	277;459;415	ENSP00000440162:Q277P;ENSP00000340683:Q459P;ENSP00000410654:Q415P	ENSP00000340683:Q459P	Q	-	2	0	ZNF823	11693973	0.000000	0.05858	0.004000	0.12327	0.832000	0.47134	-4.778000	0.00187	-0.164000	0.10927	0.248000	0.18094	CAA		0.423	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		6	104	0	0	0	0	6	104				
NCAN	1463	broad.mit.edu	37	19	19334919	19334919	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:19334919A>G	ENST00000252575.6	+	4	664	c.565A>G	c.(565-567)Att>Gtt	p.I189V	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	189	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTCAGCCATCATTGCAGCCCC	0.602																																						uc002nlz.2		NA																	0				ovary(4)	4						c.(565-567)ATT>GTT		chondroitin sulfate proteoglycan 3 precursor							70.0	57.0	62.0					19																	19334919		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19334919A>G	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.565A>G	19.37:g.19334919A>G	ENSP00000252575:p.Ile189Val					NCAN_uc010ecc.1_5'Flank	p.I189V	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		4	664	+			189			Link 1.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.565A>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810121	0.70797	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.12569	2.67	4.89	4.89	0.63831	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.184475	0.26442	N	0.024354	T	0.29491	0.0735	L	0.58302	1.8	0.80722	D	1	D	0.61697	0.99	P	0.62089	0.898	T	0.01360	-1.1375	10	0.52906	T	0.07	-18.4914	12.4622	0.55738	1.0:0.0:0.0:0.0	.	189	O14594	NCAN_HUMAN	V	203;189	ENSP00000252575:I189V	ENSP00000252575:I189V	I	+	1	0	NCAN	19195919	1.000000	0.71417	0.998000	0.56505	0.761000	0.43186	6.211000	0.72182	1.843000	0.53566	0.454000	0.30748	ATT		0.602	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		21	45	0	0	0	0	21	45				
CILP2	148113	broad.mit.edu	37	19	19655256	19655256	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:19655256G>A	ENST00000291495.5	+	8	1987	c.1902G>A	c.(1900-1902)ctG>ctA	p.L634L	CILP2_ENST00000586018.1_Silent_p.L640L	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	634						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACGGCGAGCTGGCTCCACTGC	0.736																																						uc002nmv.3		NA																	0				ovary(1)	1						c.(1900-1902)CTG>CTA		cartilage intermediate layer protein 2							38.0	44.0	42.0					19																	19655256		2194	4273	6467	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655256G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1902G>A	19.37:g.19655256G>A						CILP2_uc002nmw.3_Silent_p.L640L	p.L634L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1987	+			634					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.1902G>A	CCDS12405.1																																																																																				0.736	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		7	123	0	0	0	0	7	123				
PSG8	440533	broad.mit.edu	37	19	43259212	43259212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:43259212C>T	ENST00000306511.4	-	4	1013	c.916G>A	c.(916-918)Gga>Aga	p.G306R	PSG8_ENST00000404209.4_Missense_Mutation_p.G306R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.G184R|PSG8_ENST00000401467.2_Missense_Mutation_p.G213R	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	306	Ig-like C2-type 2.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGATAGGGTCCTGTTTCATTT	0.498																																						uc002ouo.2		NA																	0					0						c.(916-918)GGA>AGA		pregnancy specific beta-1-glycoprotein 8 isoform							168.0	166.0	167.0					19																	43259212		2203	4298	6501	SO:0001583	missense	440533					extracellular region		g.chr19:43259212C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.916G>A	19.37:g.43259212C>T	ENSP00000305005:p.Gly306Arg					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.G145R|PSG8_uc002ouh.2_Missense_Mutation_p.G306R|PSG8_uc010ein.2_Missense_Mutation_p.G184R|PSG8_uc002ouj.3_Missense_Mutation_p.G88R|PSG8_uc002ouk.3_Missense_Mutation_p.G145R|PSG8_uc002oul.3_Missense_Mutation_p.G306R|PSG8_uc002oum.3_Missense_Mutation_p.G213R|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.G213R	p.G306R	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			4	1014	-		Prostate(69;0.00899)	306			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.916G>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	13.70	2.316602	0.40996	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	1.38	1.38	0.22167	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48943	0.1528	M	0.91090	3.175	0.23356	N	0.997844	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	0.999;1.0;1.0;1.0;0.999;1.0	T	0.23368	-1.0190	9	0.87932	D	0	.	6.1171	0.20132	0.0:1.0:0.0:0.0	.	184;213;306;213;306;306	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	R	306;184;213;118;213;306	ENSP00000385869:G306R;ENSP00000385081:G184R;ENSP00000386090:G213R;ENSP00000305005:G306R	ENSP00000305005:G306R	G	-	1	0	PSG8	47951052	0.274000	0.24191	0.636000	0.29352	0.030000	0.12068	0.755000	0.26405	0.731000	0.32448	0.298000	0.19748	GGA		0.498	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			46	206	0	0	0	0	46	206				
SYT3	84258	broad.mit.edu	37	19	51135984	51135984	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:51135984A>T	ENST00000338916.4	-	2	866	c.233T>A	c.(232-234)tTg>tAg	p.L78*	SYT3_ENST00000600079.1_Nonsense_Mutation_p.L78*|SYT3_ENST00000593901.1_Nonsense_Mutation_p.L78*|SYT3_ENST00000544769.1_Nonsense_Mutation_p.L78*	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	78					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CACCCAGCACAACTTCCAGGA	0.632																																						uc002pst.2		NA																	0				ovary(2)|breast(1)	3						c.(232-234)TTG>TAG		synaptotagmin III							106.0	103.0	104.0					19																	51135984		2203	4300	6503	SO:0001587	stop_gained	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135984A>T	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.233T>A	19.37:g.51135984A>T	ENSP00000340914:p.Leu78*					SYT3_uc002psv.2_Nonsense_Mutation_p.L78*|SYT3_uc010ycd.1_Nonsense_Mutation_p.L78*	p.L78*	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	867	-		all_neural(266;0.131)	78			Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Nonsense_Mutation	SNP	ENST00000338916.4	37	c.233T>A	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	A	43	10.265496	0.99371	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	.	.	.	4.49	4.49	0.54785	.	0.131310	0.30464	U	0.009567	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4424	0.61121	1.0:0.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000340914:L78X	L	-	2	0	SYT3	55827796	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	8.874000	0.92363	1.956000	0.56807	0.460000	0.39030	TTG		0.632	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		6	99	0	0	0	0	6	99				
HEATR5B	54497	broad.mit.edu	37	2	37284598	37284598	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:37284598T>G	ENST00000233099.5	-	15	2180	c.2085A>C	c.(2083-2085)gaA>gaC	p.E695D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E695D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	695						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCGCTACCAGTTCTCTAAGAA	0.363																																						uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(2083-2085)GAA>GAC		HEAT repeat containing 5B							109.0	109.0	109.0					2																	37284598		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37284598T>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2085A>C	2.37:g.37284598T>G	ENSP00000233099:p.Glu695Asp						p.E695D	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			15	2181	-		all_hematologic(82;0.21)	695					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2085A>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.859966	0.71834	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07908	3.15;3.15	5.53	-4.23	0.03789	Armadillo-like helical (1);Armadillo-type fold (1);	0.095423	0.64402	D	0.000001	T	0.10337	0.0253	L	0.57536	1.79	0.50171	D	0.999856	B	0.22146	0.065	B	0.36289	0.221	T	0.25433	-1.0132	10	0.13470	T	0.59	-9.3327	15.2469	0.73511	0.0:0.6974:0.0:0.3026	.	695	Q9P2D3	HTR5B_HUMAN	D	695	ENSP00000233099:E695D;ENSP00000346531:E695D	ENSP00000233099:E695D	E	-	3	2	HEATR5B	37138102	0.365000	0.25006	0.965000	0.40720	0.978000	0.69477	-0.246000	0.08878	-0.731000	0.04862	-0.263000	0.10527	GAA		0.363	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		6	23	0	0	0	0	6	23				
QPCT	25797	broad.mit.edu	37	2	37599902	37599902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:37599902G>A	ENST00000338415.3	+	7	1176	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	QPCT_ENST00000537448.1_Missense_Mutation_p.D291N	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	340					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGAAAATTTGGATGAATCAAC	0.358																																						uc002rqg.2		NA																	0				central_nervous_system(1)	1						c.(1018-1020)GAT>AAT		glutaminyl-peptide cyclotransferase precursor							145.0	136.0	139.0					2																	37599902		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37599902G>A	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.1018G>A	2.37:g.37599902G>A	ENSP00000344829:p.Asp340Asn					QPCT_uc002rqh.2_Missense_Mutation_p.D291N	p.D340N	NM_012413	NP_036545	Q16769	QPCT_HUMAN			7	1140	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	340					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.1018G>A	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064280	0.76187	.	.	ENSG00000115828	ENST00000338415;ENST00000537448;ENST00000444022	T;T;T	0.25414	1.8;1.8;1.8	5.97	2.07	0.26955	Peptidase M28 (1);	0.093746	0.64402	N	0.000001	T	0.41396	0.1157	M	0.83774	2.66	0.47584	D	0.999461	D;D	0.67145	0.977;0.996	P;P	0.55055	0.622;0.767	T	0.21449	-1.0245	10	0.46703	T	0.11	-22.6803	8.2265	0.31572	0.1345:0.2509:0.6146:0.0	.	291;340	Q16769-2;Q16769	.;QPCT_HUMAN	N	340;291;105	ENSP00000344829:D340N;ENSP00000441606:D291N;ENSP00000389227:D105N	ENSP00000344829:D340N	D	+	1	0	QPCT	37453406	1.000000	0.71417	0.347000	0.25668	0.817000	0.46193	2.658000	0.46733	0.099000	0.17552	-0.136000	0.14681	GAT		0.358	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			4	75	0	0	0	0	4	75				
CTNNA2	1496	broad.mit.edu	37	2	80816531	80816531	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:80816531T>G	ENST00000402739.4	+	14	2115	c.2110T>G	c.(2110-2112)Tgg>Ggg	p.W704G	CTNNA2_ENST00000361291.4_Missense_Mutation_p.W738G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.W383G|CTNNA2_ENST00000466387.1_Missense_Mutation_p.W704G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000609950.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	704					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGTGGCCAAATGGGACGACAG	0.498																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2110-2112)TGG>GGG		catenin, alpha 2 isoform 1							129.0	138.0	135.0					2																	80816531		2199	4300	6499	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80816531T>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2110T>G	2.37:g.80816531T>G	ENSP00000384638:p.Trp704Gly					CTNNA2_uc010yse.1_Missense_Mutation_p.W704G|CTNNA2_uc010ysf.1_Missense_Mutation_p.W704G|CTNNA2_uc010ysg.1_Missense_Mutation_p.W704G|CTNNA2_uc010ysi.1_Missense_Mutation_p.W336G|CTNNA2_uc010ysj.1_Missense_Mutation_p.W33G	p.W704G	NM_004389	NP_004380	P26232	CTNA2_HUMAN			14	2115	+			704					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2110T>G		.	.	.	.	.	.	.	.	.	.	T	19.87	3.908090	0.72868	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.97	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.86879	0.6039	M	0.92880	3.355	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.978;1.0;0.996;0.996	D	0.88999	0.3420	9	.	.	.	.	12.5334	0.56128	0.125:0.0:0.0:0.875	.	336;704;704;704	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	G	704;704;738;704;704;704;383	ENSP00000418191:W704G;ENSP00000419295:W704G;ENSP00000355398:W738G;ENSP00000384638:W704G;ENSP00000444675:W704G;ENSP00000441705:W704G;ENSP00000341500:W383G	.	W	+	1	0	CTNNA2	80670042	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.846000	0.86887	1.058000	0.40530	0.533000	0.62120	TGG		0.498	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		9	81	0	0	0	0	9	81				
ZRANB3	84083	broad.mit.edu	37	2	135965229	135965229	+	Silent	SNP	C	C	T	rs202125924		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:135965229C>T	ENST00000264159.6	-	19	2900	c.2784G>A	c.(2782-2784)gcG>gcA	p.A928A	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Silent_p.A926A|ZRANB3_ENST00000536680.1_Silent_p.A926A	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	928					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCCAAGAGTTCGCTTTACATG	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21659	0.0		0.0	False		,,,				2504	0.0					uc002tum.2		NA																	0				lung(2)	2						c.(2782-2784)GCG>GCA		zinc finger, RAN-binding domain containing 3							209.0	194.0	199.0					2																	135965229		1926	4140	6066	SO:0001819	synonymous_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965229C>T	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2784G>A	2.37:g.135965229C>T						ZRANB3_uc002tuk.2_Silent_p.A471A|ZRANB3_uc002tul.2_Silent_p.A926A	p.A928A	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	2901	-			928					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	c.2784G>A	CCDS46419.1																																																																																				0.428	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		28	194	0	0	0	0	28	194				
STK39	27347	broad.mit.edu	37	2	169020294	169020294	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:169020294A>C	ENST00000355999.4	-	4	1232	c.527T>G	c.(526-528)gTt>gGt	p.V176G		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GCCTTCCAAAACCTCTTTAAG	0.363																																						uc002uea.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(526-528)GTT>GGT		serine threonine kinase 39 (STE20/SPS1 homolog,							149.0	137.0	141.0					2																	169020294		1843	4095	5938	SO:0001583	missense	27347				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	g.chr2:169020294A>C	AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.527T>G	2.37:g.169020294A>C	ENSP00000348278:p.Val176Gly						p.V176G	NM_013233	NP_037365	Q9UEW8	STK39_HUMAN			4	687	-			176			Protein kinase.		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	ENST00000355999.4	37	c.527T>G	CCDS42770.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.795801	0.90453	.	.	ENSG00000198648	ENST00000355999	T	0.27720	1.65	6.03	6.03	0.97812	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	0.85682	D	0.000000	T	0.62672	0.2447	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69289	-0.5184	10	0.87932	D	0	0.0055	16.5582	0.84512	1.0:0.0:0.0:0.0	.	176	Q9UEW8	STK39_HUMAN	G	176	ENSP00000348278:V176G	ENSP00000348278:V176G	V	-	2	0	STK39	168728540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.308000	0.77769	0.533000	0.62120	GTT		0.363	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233		5	50	0	0	0	0	5	50				
CERKL	375298	broad.mit.edu	37	2	182414397	182414397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:182414397G>A	ENST00000339098.5	-	7	936	c.937C>T	c.(937-939)Cct>Tct	p.P313S	CERKL_ENST00000410087.3_Missense_Mutation_p.P287S|CERKL_ENST00000374970.2_Missense_Mutation_p.P218S|CERKL_ENST00000374969.2_Missense_Mutation_p.P174S|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.P269S			Q49MI3	CERKL_HUMAN	ceramide kinase-like	313	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCACATGAGGAACTCCATGA	0.343																																						uc002unx.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(937-939)CCT>TCT		ceramide kinase-like isoform b							124.0	123.0	123.0					2																	182414397		2203	4300	6503	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182414397G>A	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.937C>T	2.37:g.182414397G>A	ENSP00000341159:p.Pro313Ser					CERKL_uc002uny.2_Missense_Mutation_p.P287S|CERKL_uc010zfm.1_Missense_Mutation_p.P269S|CERKL_uc002unz.2_Missense_Mutation_p.P35S|CERKL_uc002uoa.2_Missense_Mutation_p.P218S|CERKL_uc002uob.2_Missense_Mutation_p.P35S|CERKL_uc002uoc.2_Missense_Mutation_p.P174S|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.P82S|CERKL_uc002uoe.2_Missense_Mutation_p.P287S|CERKL_uc002unw.2_5'Flank	p.P313S	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		7	1038	-			313			DAGKc.		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.937C>T	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	G	0.732	-0.779616	0.02929	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.20463	2.07;2.07;2.65;2.07;2.65	5.64	-0.189	0.13260	Diacylglycerol kinase, catalytic domain (2);	0.441828	0.23710	N	0.045330	T	0.11239	0.0274	L	0.40543	1.245	0.09310	N	0.999999	B;B;B;B;B	0.27559	0.008;0.181;0.047;0.004;0.008	B;B;B;B;B	0.24541	0.018;0.054;0.046;0.006;0.018	T	0.35450	-0.9788	10	0.07325	T	0.83	.	5.6825	0.17784	0.3395:0.0:0.4603:0.2002	.	269;174;218;287;313	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	S	287;269;174;313;218	ENSP00000386725:P287S;ENSP00000387080:P269S;ENSP00000364108:P174S;ENSP00000341159:P313S;ENSP00000364109:P218S	ENSP00000341159:P313S	P	-	1	0	CERKL	182122642	0.001000	0.12720	0.113000	0.21522	0.910000	0.53928	-0.157000	0.10085	0.024000	0.15214	-0.225000	0.12378	CCT		0.343	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			11	80	0	0	0	0	11	80				
SMTN	6525	broad.mit.edu	37	22	31491537	31491537	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr22:31491537C>A	ENST00000347557.2	+	13	2021	c.1803C>A	c.(1801-1803)gaC>gaA	p.D601E	SMTN_ENST00000358743.1_Missense_Mutation_p.D601E|SMTN_ENST00000333137.7_Missense_Mutation_p.D601E|SMTN_ENST00000404574.1_Missense_Mutation_p.D200E	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	601					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGAGCACGGACTTTGAAGAGC	0.577																																						uc003ajl.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(1801-1803)GAC>GAA		smoothelin isoform c							77.0	75.0	75.0					22																	31491537		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31491537C>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1803C>A	22.37:g.31491537C>A	ENSP00000328635:p.Asp601Glu					SMTN_uc003ajk.1_Missense_Mutation_p.D601E|SMTN_uc003ajm.1_Missense_Mutation_p.D601E|SMTN_uc011ale.1_Missense_Mutation_p.D686E|SMTN_uc011alf.1_Missense_Mutation_p.D657E|SMTN_uc003ajn.1_Missense_Mutation_p.D624E|SMTN_uc011alg.1_Missense_Mutation_p.D57E|SMTN_uc003ajo.1_Missense_Mutation_p.D200E|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Missense_Mutation_p.D57E	p.D601E	NM_006932	NP_008863	P53814	SMTN_HUMAN			13	2021	+			601					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.1803C>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972758	0.53614	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574;ENST00000403419	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	4.98	2.9	0.33743	.	0.184296	0.26738	N	0.022741	T	0.57403	0.2051	L	0.51422	1.61	0.80722	D	1	P;D;P;D;D;P;P;B	0.63046	0.651;0.985;0.716;0.992;0.967;0.501;0.942;0.445	P;P;B;D;P;B;P;B	0.64237	0.453;0.876;0.362;0.923;0.492;0.359;0.492;0.245	T	0.55872	-0.8072	10	0.45353	T	0.12	-23.8204	11.7601	0.51898	0.0:0.8683:0.0:0.1317	.	657;686;57;200;624;601;601;601	E7ETT8;B4E229;B5MBZ4;B5MCI0;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;.;.;SMTN_HUMAN;.	E	601;601;601;599;624;78;200;57	ENSP00000351593:D601E;ENSP00000328635:D601E;ENSP00000329532:D601E;ENSP00000392329:D78E;ENSP00000383919:D200E	ENSP00000329393:D599E	D	+	3	2	SMTN	29821537	0.998000	0.40836	0.991000	0.47740	0.994000	0.84299	0.556000	0.23438	0.822000	0.34565	0.561000	0.74099	GAC		0.577	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		15	37	1	0	3.27e-08	1.05e-07	15	37				
ACO2	50	broad.mit.edu	37	22	41919936	41919936	+	Silent	SNP	G	G	A	rs148997312		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr22:41919936G>A	ENST00000216254.4	+	12	1495	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	ACO2_ENST00000396512.3_Silent_p.T516T	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	491					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTTTGTCACGTCCCCAGAGG	0.617																																						uc003bac.2		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(1471-1473)ACG>ACA		aconitase 2, mitochondrial precursor		G		1,4405	2.1+/-5.4	0,1,2202	101.0	77.0	85.0		1473	-6.1	1.0	22	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	ACO2	NM_001098.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		491/781	41919936	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41919936G>A	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1473G>A	22.37:g.41919936G>A						ACO2_uc003bad.2_Silent_p.T516T	p.T491T	NM_001098	NP_001089	Q99798	ACON_HUMAN			12	1495	+			491					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	ENST00000216254.4	37	c.1473G>A	CCDS14017.1																																																																																				0.617	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		9	33	0	0	0	0	9	33				
KIAA2018	205717	broad.mit.edu	37	3	113378750	113378750	+	Silent	SNP	G	G	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:113378750G>C	ENST00000478658.1	-	5	1796	c.1779C>G	c.(1777-1779)ctC>ctG	p.L593L	KIAA2018_ENST00000316407.4_Silent_p.L593L|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	593						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						GAGCAGGGAGGAGTGGCAAAG	0.473																																						uc003eam.2		NA																	0				skin(2)|ovary(1)	3						c.(1777-1779)CTC>CTG		hypothetical protein LOC205717							182.0	182.0	182.0					3																	113378750		1967	4144	6111	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113378750G>C	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.1779C>G	3.37:g.113378750G>C						KIAA2018_uc003eal.2_Silent_p.L537L	p.L593L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	2190	-			593					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.1779C>G	CCDS43133.1																																																																																				0.473	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		30	67	0	0	0	0	30	67				
SRPRB	58477	broad.mit.edu	37	3	133538447	133538447	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:133538447C>A	ENST00000466490.2	+	8	938	c.653C>A	c.(652-654)tCc>tAc	p.S218Y		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	218					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CTGGACAGTTCCAGCACTGCC	0.517																																						uc003epx.1		NA																	0				ovary(1)	1						c.(652-654)TCC>TAC		signal recognition particle receptor, beta							62.0	66.0	65.0					3																	133538447		2203	4300	6503	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133538447C>A	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.653C>A	3.37:g.133538447C>A	ENSP00000418401:p.Ser218Tyr						p.S218Y	NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN			7	669	+			218					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.653C>A	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113806	0.77210	.	.	ENSG00000144867	ENST00000466490	T	0.16324	2.35	5.63	5.63	0.86233	.	0.370693	0.25660	N	0.029142	T	0.29126	0.0724	M	0.81112	2.525	0.47737	D	0.999507	P	0.45768	0.866	B	0.43413	0.419	T	0.09443	-1.0674	10	0.72032	D	0.01	-14.6996	15.1898	0.73035	0.0:0.8596:0.1404:0.0	.	218	Q9Y5M8	SRPRB_HUMAN	Y	218	ENSP00000418401:S218Y	ENSP00000418401:S218Y	S	+	2	0	SRPRB	135021137	1.000000	0.71417	0.988000	0.46212	0.755000	0.42902	4.409000	0.59768	2.655000	0.90218	0.650000	0.86243	TCC		0.517	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			7	71	1	0	0.000673444	0.00201139	7	71				
HTR3D	200909	broad.mit.edu	37	3	183754191	183754191	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:183754191G>T	ENST00000382489.3	+	4	409	c.409G>T	c.(409-411)Gct>Tct	p.A137S	HTR3D_ENST00000428798.2_Missense_Mutation_p.A76S|HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000334128.2_Missense_Mutation_p.A2S	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	137					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	AGGTCTCATGGCTAGTATGTC	0.507																																						uc011bqv.1		NA																	0					0						c.(409-411)GCT>TCT		5-hydroxytryptamine receptor 3 subunit D isoform							126.0	98.0	107.0					3																	183754191		2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183754191G>T	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.409G>T	3.37:g.183754191G>T	ENSP00000371929:p.Ala137Ser					HTR3D_uc003fmj.2_Missense_Mutation_p.A2S|HTR3D_uc011bqu.1_Missense_Mutation_p.A76S|HTR3D_uc010hxp.2_Intron	p.A137S	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		4	409	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		137			Extracellular (Potential).		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.409G>T	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	g	15.81	2.942173	0.53079	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489	T;T;T	0.76578	-0.96;-1.0;-1.03	4.8	2.88	0.33553	Neurotransmitter-gated ion-channel ligand-binding (2);	1.290740	0.05867	U	0.624016	D	0.82527	0.5056	M	0.69823	2.125	0.21473	N	0.999674	P;P;D	0.54047	0.599;0.635;0.964	B;B;P	0.51701	0.444;0.376;0.677	T	0.65307	-0.6200	10	0.72032	D	0.01	.	7.6914	0.28569	0.0:0.1806:0.6323:0.187	.	137;2;2	Q70Z44;Q70Z44-2;F6WC43	5HT3D_HUMAN;.;.	S	2;76;137	ENSP00000334315:A2S;ENSP00000405409:A76S;ENSP00000371929:A137S	ENSP00000334315:A2S	A	+	1	0	HTR3D	185236885	0.002000	0.14202	0.261000	0.24466	0.077000	0.17291	0.968000	0.29357	0.645000	0.30675	0.651000	0.88453	GCT		0.507	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		16	23	1	0	4.15e-12	1.37e-11	16	23				
PYDC2	152138	broad.mit.edu	37	3	191179054	191179054	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:191179054C>A	ENST00000518817.1	+	1	103	c.103C>A	c.(103-105)Ctg>Atg	p.L35M		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	35	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AACAATCTCCCTGGGAAAGGA	0.537																																						uc011bso.1		NA																	0					0						c.(103-105)CTG>ATG		pyrin domain containing 2							77.0	84.0	82.0					3																	191179054		2202	4300	6502	SO:0001583	missense	152138					cytoplasm|nucleus		g.chr3:191179054C>A			3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.103C>A	3.37:g.191179054C>A	ENSP00000428325:p.Leu35Met						p.L35M	NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN			1	103	+			35			DAPIN.			Missense_Mutation	SNP	ENST00000518817.1	37	c.103C>A		.	.	.	.	.	.	.	.	.	.	C	11.32	1.605038	0.28623	.	.	ENSG00000253548	ENST00000518817	T	0.61627	0.09	0.688	0.688	0.18027	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.67748	0.2926	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.54708	-0.8253	7	0.41790	T	0.15	.	.	.	.	.	35	Q56P42	PYDC2_HUMAN	M	35	ENSP00000428325:L35M	ENSP00000428325:L35M	L	+	1	2	PYDC2	192661748	0.086000	0.21541	0.009000	0.14445	0.278000	0.26855	-0.002000	0.12924	0.635000	0.30488	0.313000	0.20887	CTG		0.537	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343231.2	NM_001083308		10	96	1	0	7.48e-07	2.36e-06	10	96				
MUC20	200958	broad.mit.edu	37	3	195447901	195447901	+	Missense_Mutation	SNP	C	C	G	rs200870626		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:195447901C>G	ENST00000447234.2	+	1	149	c.23C>G	c.(22-24)gCt>gGt	p.A8G	MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000320736.6_Missense_Mutation_p.A8G|MUC20_ENST00000436408.1_Missense_Mutation_p.A8G	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	8					activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGGGGTCTGGCTCTGCCCCTT	0.617																																						uc010hzo.2		NA																	0					0						c.(22-24)GCT>GGT		mucin 20 isoform L		C	GLY/ALA	1,3877		0,1,1938	55.0	59.0	58.0		23	-1.1	0.1	3		58	15,8273		0,15,4129	yes	missense	MUC20	NM_152673.2	60	0,16,6067	GG,GC,CC		0.181,0.0258,0.1315	probably-damaging	8/539	195447901	16,12150	1939	4144	6083	SO:0001583	missense	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195447901C>G	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.23C>G	3.37:g.195447901C>G	ENSP00000414350:p.Ala8Gly						p.A8G	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	1	149	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	8					Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37	c.23C>G		.	.	.	.	.	.	.	.	.	.	C	13.34	2.207172	0.39003	2.58E-4	0.00181	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408	T;T;T	0.23754	1.89;2.14;2.03	2.77	-1.13	0.09775	.	.	.	.	.	T	0.28699	0.0711	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.60173	0.87	T	0.18429	-1.0337	9	0.66056	D	0.02	-6.0E-4	6.244	0.20807	0.0:0.4806:0.0:0.5194	.	8	E9PH32	.	G	8	ENSP00000414350:A8G;ENSP00000325431:A8G;ENSP00000396774:A8G	ENSP00000325431:A8G	A	+	2	0	MUC20	196933572	0.000000	0.05858	0.088000	0.20740	0.793000	0.44817	-0.090000	0.11163	-0.324000	0.08589	-0.448000	0.05591	GCT		0.617	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		2	7	0	0	0	0	2	7				
SLC26A1	10861	broad.mit.edu	37	4	985266	985266	+	Missense_Mutation	SNP	C	C	A	rs387907482		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr4:985266C>A	ENST00000361661.2	-	3	603	c.226G>T	c.(226-228)Ggg>Tgg	p.G76W	SLC26A1_ENST00000398516.2_Missense_Mutation_p.G76W|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G76W	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	76					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGACCAGCCCAGACATGACG	0.662																																						uc003gcb.2		NA																	0				skin(1)	1						c.(226-228)GGG>TGG		solute carrier family 26, member 1 isoform a							64.0	59.0	61.0					4																	985266		2202	4300	6502	SO:0001583	missense	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:985266C>A	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.226G>T	4.37:g.985266C>A	ENSP00000354721:p.Gly76Trp					SLC26A1_uc003gbx.2_Missense_Mutation_p.G76W|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.G76W	p.G76W	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		3	604	-			76			Helical; (Potential).		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	c.226G>T	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454447	0.63290	.	.	ENSG00000145217	ENST00000398520;ENST00000361661;ENST00000398516	D;D;D	0.97906	-4.6;-4.6;-4.6	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98321	1.0528	10	0.87932	D	0	.	16.0755	0.80965	0.0:1.0:0.0:0.0	.	76;76	Q9H2B4;Q96BK0	S26A1_HUMAN;.	W	76	ENSP00000381532:G76W;ENSP00000354721:G76W;ENSP00000381528:G76W	ENSP00000354721:G76W	G	-	1	0	SLC26A1	975266	1.000000	0.71417	0.676000	0.29932	0.122000	0.20287	7.652000	0.83633	2.380000	0.81148	0.313000	0.20887	GGG		0.662	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		5	88	1	0	0.000602214	0.00180664	5	88				
PCDHB1	29930	broad.mit.edu	37	5	140432406	140432406	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr5:140432406A>T	ENST00000306549.3	+	1	1428	c.1351A>T	c.(1351-1353)Ata>Tta	p.I451L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	451	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATCCTCCAATATTTCGGGA	0.423																																						uc003lik.1		NA																	0					0						c.(1351-1353)ATA>TTA		protocadherin beta 1 precursor							91.0	89.0	89.0					5																	140432406		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432406A>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1351A>T	5.37:g.140432406A>T	ENSP00000307234:p.Ile451Leu						p.I451L	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1428	+			451			Cadherin 4.|Extracellular (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1351A>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513980	0.27123	.	.	ENSG00000171815	ENST00000306549	T	0.01767	4.65	6.17	-0.0227	0.13946	Cadherin (3);Cadherin-like (1);	0.367914	0.19256	N	0.118798	T	0.01222	0.0040	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45673	-0.9245	10	0.51188	T	0.08	.	7.2949	0.26387	0.3048:0.1048:0.5904:0.0	.	451	Q9Y5F3	PCDB1_HUMAN	L	451	ENSP00000307234:I451L	ENSP00000307234:I451L	I	+	1	0	PCDHB1	140412590	0.000000	0.05858	0.013000	0.15412	0.987000	0.75469	-1.429000	0.02437	-0.264000	0.09365	-0.177000	0.13119	ATA		0.423	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		9	60	0	0	0	0	9	60				
HTR4	3360	broad.mit.edu	37	5	147845444	147845444	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr5:147845444C>G	ENST00000314512.6	-	7	1284	c.1121G>C	c.(1120-1122)aGa>aCa	p.R374T	HTR4_ENST00000354217.2_Intron|HTR4_ENST00000521735.1_Missense_Mutation_p.R374T|HTR4_ENST00000521530.1_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	AGGAACTGGTCTATTGCAGAA	0.443																																					GBM(120;370 1604 14007 17804 41573)	uc003lpi.1		NA																	0				ovary(1)	1						c.(1120-1122)AGA>ACA		serotonin 5-HT4 receptor isoform g	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						147.0	157.0	154.0					5																	147845444		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147845444C>G	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000314512.6:c.1121G>C	5.37:g.147845444C>G	ENSP00000314906:p.Arg374Thr					HTR4_uc010jgu.1_RNA|HTR4_uc003lpj.1_Intron	p.R374T	NM_199453	NP_955525	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1285	-			Error:Variant_position_missing_in_Q13639_after_alignment					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000314512.6	37	c.1121G>C	CCDS34271.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001459	0.54254	.	.	ENSG00000164270	ENST00000314512;ENST00000521735	T;T	0.71222	-0.55;-0.55	5.28	5.28	0.74379	.	.	.	.	.	T	0.79695	0.4490	.	.	.	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.76820	-0.2818	8	0.28530	T	0.3	.	16.3969	0.83610	0.0:1.0:0.0:0.0	.	374	Q684M0	.	T	374	ENSP00000314906:R374T;ENSP00000430979:R374T	ENSP00000314906:R374T	R	-	2	0	HTR4	147825637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.469000	0.53093	2.452000	0.82932	0.563000	0.77884	AGA		0.443	HTR4-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374235.1	NM_000870		5	144	0	0	0	0	5	144				
BCKDHB	594	broad.mit.edu	37	6	80878708	80878708	+	Silent	SNP	G	G	A	rs398124587		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr6:80878708G>A	ENST00000320393.6	+	5	641	c.594G>A	c.(592-594)caG>caA	p.Q198Q	BCKDHB_ENST00000545529.1_Silent_p.Q198Q|BCKDHB_ENST00000356489.5_Silent_p.Q198Q|BCKDHB_ENST00000369760.4_Silent_p.Q198Q	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	198					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATCATTCTCAGAGTCCTGAAG	0.423																																						uc003pjd.2		NA																	0					0						c.(592-594)CAG>CAA		branched chain keto acid dehydrogenase E1 beta							147.0	146.0	147.0					6																	80878708		2203	4300	6503	SO:0001819	synonymous_variant	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80878708G>A	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.594G>A	6.37:g.80878708G>A						BCKDHB_uc003pje.2_Silent_p.Q198Q	p.Q198Q	NM_000056	NP_000047	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	5	661	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	198					Q5T2J3|Q9BQL0	Silent	SNP	ENST00000320393.6	37	c.594G>A	CCDS4994.1																																																																																				0.423	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		7	81	0	0	0	0	7	81				
UNC93A	54346	broad.mit.edu	37	6	167721317	167721317	+	Missense_Mutation	SNP	C	C	T	rs267600893		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr6:167721317C>T	ENST00000230256.3	+	7	1202	c.1027C>T	c.(1027-1029)Cgt>Tgt	p.R343C	UNC93A_ENST00000366829.2_Missense_Mutation_p.R301C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTGGAGACCTCGTGCTGACCA	0.617																																						uc003qvq.2		NA																	0					0						c.(1027-1029)CGT>TGT		unc-93 homolog A isoform 1							156.0	116.0	129.0					6																	167721317		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167721317C>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1027C>T	6.37:g.167721317C>T	ENSP00000230256:p.Arg343Cys					UNC93A_uc003qvr.2_Missense_Mutation_p.R301C	p.R343C	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	7	1202	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	343					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.1027C>T	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144600	0.21288	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.17054	2.3;2.3	4.56	-1.01	0.10169	Major facilitator superfamily domain, general substrate transporter (1);	0.362001	0.30277	N	0.009997	T	0.03520	0.0101	N	0.22421	0.69	0.09310	N	1	P;P	0.49961	0.93;0.877	P;P	0.46339	0.513;0.462	T	0.34204	-0.9838	10	0.40728	T	0.16	-4.2485	3.361	0.07186	0.2334:0.5023:0.1106:0.1537	.	301;343	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	C	343;301	ENSP00000230256:R343C;ENSP00000355794:R301C	ENSP00000230256:R343C	R	+	1	0	UNC93A	167641307	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.682000	0.25335	-1.125000	0.02932	-1.255000	0.01485	CGT		0.617	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		7	63	0	0	0	0	7	63				
CHST12	55501	broad.mit.edu	37	7	2472309	2472309	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:2472309T>G	ENST00000258711.6	+	2	170	c.35T>G	c.(34-36)gTg>gGg	p.V12G		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	12					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)	p.V12G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTGTGGCTGGTGCTGGGGTCG	0.662																																						uc003smc.2		NA																	2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(34-36)GTG>GGG		carbohydrate sulfotransferase 12							43.0	37.0	39.0					7																	2472309		2201	4299	6500	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472309T>G	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.35T>G	7.37:g.2472309T>G	ENSP00000258711:p.Val12Gly					CHST12_uc003smd.2_Missense_Mutation_p.V12G	p.V12G	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	170	+		Ovarian(82;0.0253)	12			Helical; Signal-anchor for type II membrane protein; (Potential).		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.35T>G	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.645638	0.29246	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.68331	-0.32;0.47	5.05	-4.22	0.03800	.	0.655511	0.15128	N	0.279008	T	0.50837	0.1639	L	0.38838	1.175	0.38624	D	0.951207	B	0.28713	0.22	B	0.25140	0.058	T	0.36744	-0.9735	10	0.87932	D	0	-11.3322	11.8507	0.52410	0.0:0.3252:0.0:0.6748	.	12	Q9NRB3	CHSTC_HUMAN	G	12	ENSP00000258711:V12G;ENSP00000411207:V12G	ENSP00000258711:V12G	V	+	2	0	CHST12	2438835	0.311000	0.24536	0.103000	0.21229	0.631000	0.37964	0.672000	0.25187	-0.639000	0.05502	-0.366000	0.07423	GTG		0.662	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		8	55	0	0	0	0	8	55				
THSD7A	221981	broad.mit.edu	37	7	11468652	11468652	+	Silent	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:11468652C>G	ENST00000423059.4	-	14	3416	c.3165G>C	c.(3163-3165)gtG>gtC	p.V1055V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1055	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AACGAACCTTCACACCACTCC	0.517										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(3163-3165)GTG>GTC		thrombospondin, type I, domain containing 7A							224.0	221.0	222.0					7																	11468652		2052	4186	6238	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11468652C>G		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3165G>C	7.37:g.11468652C>G		HNSCC(18;0.044)					p.V1055V	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	14	3417	-			1055			TSP type-1 11.|Extracellular (Potential).			Silent	SNP	ENST00000423059.4	37	c.3165G>C	CCDS47543.1																																																																																				0.517	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		17	317	0	0	0	0	17	317				
SRRT	51593	broad.mit.edu	37	7	100483362	100483362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:100483362C>T	ENST00000347433.4	+	11	1516	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L	SRRT_ENST00000432932.1_Missense_Mutation_p.S452L|SRRT_ENST00000457580.2_Missense_Mutation_p.S453L|SRRT_ENST00000388793.4_Missense_Mutation_p.S452L			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	453					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTGGCGCTCTCAGAGCCCCAG	0.537																																						uc003uwy.2		NA																	0				ovary(2)	2						c.(1357-1359)TCA>TTA		arsenate resistance protein 2 isoform a							86.0	77.0	80.0					7																	100483362		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100483362C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1358C>T	7.37:g.100483362C>T	ENSP00000314491:p.Ser453Leu					SRRT_uc010lhl.1_Missense_Mutation_p.S452L|SRRT_uc003uxa.2_Missense_Mutation_p.S452L|SRRT_uc003uwz.2_Missense_Mutation_p.S453L	p.S453L	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			12	1626	+			453					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1358C>T	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	c	33	5.197275	0.94960	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.999;0.989;0.989;0.981	D;D;D;D	0.78314	0.991;0.985;0.985;0.966	T	0.63171	-0.6697	10	0.72032	D	0.01	.	15.8585	0.79005	0.0:1.0:0.0:0.0	.	452;452;453;453	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	L	453;452;452;453;83	ENSP00000416553:S453L;ENSP00000373445:S452L;ENSP00000391852:S452L;ENSP00000314491:S453L	ENSP00000314491:S453L	S	+	2	0	SRRT	100321298	1.000000	0.71417	0.230000	0.23976	0.882000	0.50991	5.014000	0.64029	2.596000	0.87737	0.645000	0.84053	TCA		0.537	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		18	99	0	0	0	0	18	99				
CPA4	51200	broad.mit.edu	37	7	129948151	129948151	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:129948151G>T	ENST00000222482.4	+	8	735	c.707G>T	c.(706-708)cGa>cTa	p.R236L	CPA4_ENST00000445470.2_Missense_Mutation_p.R203L|CPA4_ENST00000493259.1_Missense_Mutation_p.R132L	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	236					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTTCAGAACCGATTATGGAGG	0.557																																						uc003vpr.2		NA																	0				ovary(1)	1						c.(706-708)CGA>CTA		carboxypeptidase A4 preproprotein							84.0	80.0	81.0					7																	129948151		2203	4300	6503	SO:0001583	missense	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129948151G>T	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.707G>T	7.37:g.129948151G>T	ENSP00000222482:p.Arg236Leu					CPA4_uc011kpd.1_Missense_Mutation_p.R203L|CPA4_uc011kpe.1_Missense_Mutation_p.R132L	p.R236L	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN			8	754	+	Melanoma(18;0.0435)		236					B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	37	c.707G>T	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688364	0.88639	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000538687;ENST00000493259	T;T;T	0.04083	3.71;3.71;3.71	5.5	5.5	0.81552	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.86573	2.825	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71184	0.972;0.968	T	0.01238	-1.1409	10	0.87932	D	0	.	17.2641	0.87081	0.0:0.0:1.0:0.0	.	203;236	B7Z576;Q9UI42	.;CBPA4_HUMAN	L	203;236;41;132	ENSP00000412947:R203L;ENSP00000222482:R236L;ENSP00000419660:R132L	ENSP00000222482:R236L	R	+	2	0	CPA4	129735387	1.000000	0.71417	0.958000	0.39756	0.672000	0.39443	7.360000	0.79487	2.741000	0.93983	0.585000	0.79938	CGA		0.557	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		18	44	1	0	6.94e-10	2.28e-09	18	44				
FAM110B	90362	broad.mit.edu	37	8	59059406	59059406	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr8:59059406T>C	ENST00000361488.3	+	5	1497	c.617T>C	c.(616-618)gTg>gCg	p.V206A	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	206						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ATCCGCAAGGTGACCAGCGTG	0.657																																						uc003xtj.1		NA																	0				large_intestine(1)	1						c.(616-618)GTG>GCG		hypothetical protein LOC90362							69.0	66.0	67.0					8																	59059406		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059406T>C	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.617T>C	8.37:g.59059406T>C	ENSP00000355204:p.Val206Ala						p.V206A	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	1497	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	206					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.617T>C	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939672	0.34189	.	.	ENSG00000169122	ENST00000361488	T	0.32023	1.47	5.67	1.55	0.23275	.	0.377447	0.26867	N	0.022099	T	0.13628	0.0330	N	0.12182	0.205	0.39628	D	0.970134	B	0.02656	0.0	B	0.01281	0.0	T	0.15093	-1.0449	9	.	.	.	-30.2248	6.7114	0.23280	0.0:0.1454:0.1268:0.7278	.	206	Q8TC76	F110B_HUMAN	A	206	ENSP00000355204:V206A	.	V	+	2	0	FAM110B	59221960	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	2.162000	0.42367	0.030000	0.15379	0.459000	0.35465	GTG		0.657	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		11	72	0	0	0	0	11	72				
SULF1	23213	broad.mit.edu	37	8	70536227	70536227	+	Missense_Mutation	SNP	G	G	A	rs201229545		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr8:70536227G>A	ENST00000260128.4	+	15	2362	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	SULF1_ENST00000419716.3_Missense_Mutation_p.E549K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.E549K|SULF1_ENST00000402687.4_Missense_Mutation_p.E549K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	549					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTTGTCCGTCGAATTTGAAGG	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		25759	0.0		0.0	False		,,,				2504	0.0					uc010lza.1		NA																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(1645-1647)GAA>AAA		sulfatase 1 precursor							93.0	90.0	91.0					8																	70536227		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70536227G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1645G>A	8.37:g.70536227G>A	ENSP00000260128:p.Glu549Lys					SULF1_uc003xyd.2_Missense_Mutation_p.E549K|SULF1_uc003xye.2_Missense_Mutation_p.E549K|SULF1_uc003xyf.2_Missense_Mutation_p.E549K|SULF1_uc003xyg.2_Missense_Mutation_p.E549K|SULF1_uc003xyh.1_RNA	p.E549K	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		15	2362	+	Breast(64;0.0654)		549					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1645G>A	CCDS6204.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.6	4.552771	0.86127	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26	5.78	5.78	0.91487	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.043792	0.85682	D	0.000000	D	0.98811	0.9599	M	0.79258	2.445	0.80722	D	1	D	0.62365	0.991	P	0.55055	0.767	D	0.99282	1.0896	10	0.51188	T	0.08	.	20.0119	0.97458	0.0:0.0:1.0:0.0	.	549	Q8IWU6	SULF1_HUMAN	K	549	ENSP00000403040:E549K;ENSP00000260128:E549K;ENSP00000385704:E549K;ENSP00000390315:E549K	ENSP00000260128:E549K	E	+	1	0	SULF1	70698781	1.000000	0.71417	0.954000	0.39281	0.462000	0.32619	9.429000	0.97481	2.706000	0.92434	0.655000	0.94253	GAA		0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		11	63	0	0	0	0	11	63				
TEK	7010	broad.mit.edu	37	9	27220088	27220088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr9:27220088G>A	ENST00000380036.4	+	21	3587	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	TEK_ENST00000519097.1_Missense_Mutation_p.E901K|TEK_ENST00000406359.4_Missense_Mutation_p.E1006K	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1049	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|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 intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AGAACTCTACGAGAAGCTGCC	0.532																																						uc003zqi.3		NA																	0				ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(3145-3147)GAG>AAG		TEK tyrosine kinase, endothelial precursor							131.0	128.0	129.0					9																	27220088		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27220088G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3145G>A	9.37:g.27220088G>A	ENSP00000369375:p.Glu1049Lys					TEK_uc011lno.1_Missense_Mutation_p.E1006K|TEK_uc011lnp.1_Missense_Mutation_p.E901K	p.E1049K	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	21	3587	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1049			Protein kinase.|Cytoplasmic (Potential).		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.3145G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162630	0.94727	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.82619	-1.63;-1.63;-1.63	4.46	4.46	0.54185	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000339	D	0.84379	0.5459	N	0.17764	0.52	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;P;D	0.72338	0.969;0.744;0.977	D	0.84690	0.0722	10	0.35671	T	0.21	.	17.4848	0.87684	0.0:0.0:1.0:0.0	.	901;1082;1049	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	K	901;1049;1006	ENSP00000430686:E901K;ENSP00000369375:E1049K;ENSP00000383977:E1006K	ENSP00000369375:E1049K	E	+	1	0	TEK	27210088	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	9.420000	0.97426	2.194000	0.70268	0.585000	0.79938	GAG		0.532	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			6	96	0	0	0	0	6	96				
SPATA31A6	389730	broad.mit.edu	37	9	43627757	43627757	+	Silent	SNP	A	A	G	rs200803614	byFrequency	TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr9:43627757A>G	ENST00000332857.6	-	4	958	c.930T>C	c.(928-930)tgT>tgC	p.C310C	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	310					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCCATCTGACAGGTCTCTG	0.532													A|||	7	0.00139776	0.0	0.0029	5008	,	,		14909	0.0		0.004	False		,,,				2504	0.001					uc011lrb.1		NA																	0					0						c.(928-930)TGT>TGC		hypothetical protein LOC389730							1.0	1.0	1.0					9																	43627757		300	906	1206	SO:0001819	synonymous_variant	389730					integral to membrane		g.chr9:43627757A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.930T>C	9.37:g.43627757A>G							p.C310C	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	959	-			310						Silent	SNP	ENST00000332857.6	37	c.930T>C	CCDS47973.1																																																																																				0.532	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		4	216	0	0	0	0	4	216				
ASPN	54829	broad.mit.edu	37	9	95236914	95236914	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr9:95236914G>C	ENST00000375544.3	-	2	509	c.266C>G	c.(265-267)tCa>tGa	p.S89*	ASPN_ENST00000450139.2_Nonsense_Mutation_p.S61*|ASPN_ENST00000395538.3_Nonsense_Mutation_p.S89*|ASPN_ENST00000375543.1_Nonsense_Mutation_p.S89*|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	89	Cys-rich.|LRRNT.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S89*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACCTAAATCTGAGCAATGTAC	0.323																																						uc004ase.1		NA																	1	Substitution - Nonsense(1)		breast(1)		0						c.(265-267)TCA>TGA		asporin precursor							98.0	90.0	93.0					9																	95236914		2203	4300	6503	SO:0001587	stop_gained	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95236914G>C	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.266C>G	9.37:g.95236914G>C	ENSP00000364694:p.Ser89*					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_Nonsense_Mutation_p.S89*	p.S89*	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN			2	510	-			89			LRRNT.|Cys-rich.		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Nonsense_Mutation	SNP	ENST00000375544.3	37	c.266C>G		.	.	.	.	.	.	.	.	.	.	G	37	6.088894	0.97271	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	.	.	.	5.3	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.65	0.77084	0.0:0.0:0.8616:0.1384	.	.	.	.	X	89;89;89;61	.	ENSP00000364693:S89X	S	-	2	0	ASPN	94276735	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.339000	0.90041	1.377000	0.46286	0.650000	0.86243	TCA		0.323	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		4	26	0	0	0	0	4	26				
FRMPD4	9758	broad.mit.edu	37	X	12734913	12734913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chrX:12734913G>A	ENST00000380682.1	+	15	2841	c.2335G>A	c.(2335-2337)Gac>Aac	p.D779N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	779					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTCAAGCGATGACATCATTGA	0.592																																						uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(2335-2337)GAC>AAC		FERM and PDZ domain containing 4							191.0	152.0	165.0					X																	12734913		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734913G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2335G>A	X.37:g.12734913G>A	ENSP00000370057:p.Asp779Asn					FRMPD4_uc011mij.1_Missense_Mutation_p.D771N	p.D779N	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	2841	+			779					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2335G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751168	0.89753	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.48522	0.81	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	L	0.49126	1.545	0.45342	D	0.998337	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63470	-0.6630	10	0.44086	T	0.13	.	18.5929	0.91220	0.0:0.0:1.0:0.0	.	771;779	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	N	779;770;768	ENSP00000370057:D779N	ENSP00000304583:D768N	D	+	1	0	FRMPD4	12644834	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	9.360000	0.97119	2.334000	0.79466	0.600000	0.82982	GAC		0.592	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		9	100	0	0	0	0	9	100				
GLOD5	392465	broad.mit.edu	37	X	48629492	48629492	+	Silent	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chrX:48629492C>T	ENST00000303227.6	+	3	392	c.351C>T	c.(349-351)caC>caT	p.H117H	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	117										endometrium(1)|lung(2)	3						TGATCCAGCACCTCAAGGTGA	0.483																																						uc011mmh.1		NA																	0					0						c.(349-351)CAC>CAT		glyoxalase domain containing 5							65.0	58.0	60.0					X																	48629492		1889	4121	6010	SO:0001819	synonymous_variant	392465							g.chrX:48629492C>T		CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.351C>T	X.37:g.48629492C>T							p.H117H	NM_001080489	NP_001073958					3	392	+									Silent	SNP	ENST00000303227.6	37	c.351C>T	CCDS55410.1	.	.	.	.	.	.	.	.	.	.	c	8.303	0.820338	0.16678	.	.	ENSG00000171433	ENST00000445229	.	.	.	4.88	-1.22	0.09494	.	.	.	.	.	T	0.55529	0.1926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49437	-0.8940	4	.	.	.	.	10.1653	0.42877	0.0:0.4801:0.0:0.5199	.	.	.	.	I	84	.	.	T	+	2	0	GLOD5	48514436	0.999000	0.42202	0.004000	0.12327	0.975000	0.68041	0.491000	0.22419	-0.406000	0.07588	0.380000	0.24917	ACC		0.483	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080489		18	10	0	0	0	0	18	10				
EIF4G2	1982	broad.mit.edu	37	11	10821256	10821260	+	Frame_Shift_Del	DEL	CCTTT	CCTTT	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:10821256_10821260delCCTTT	ENST00000526148.1	-	19	2673_2677	c.2163_2167delAAAGG	c.(2161-2169)ggaaagggafs	p.GKG721fs	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Del_p.GKG683fs|EIF4G2_ENST00000339995.5_Frame_Shift_Del_p.GKG721fs|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Frame_Shift_Del_p.GKG721fs	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAACTCAGTCCCTTTCCTTCCAAAA	0.385																																						uc001mjc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2161-2169)GGAAAGGGAfs		eukaryotic translation initiation factor 4																																				SO:0001589	frameshift_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821256_10821260delCCTTT	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2163_2167delAAAGG	11.37:g.10821256_10821260delCCTTT	ENSP00000433664:p.Gly721fs					EIF4G2_uc001mjb.2_Frame_Shift_Del_p.G515fs|EIF4G2_uc009ygf.2_Frame_Shift_Del_p.G515fs|EIF4G2_uc001mjd.2_Frame_Shift_Del_p.G683fs	p.G721fs	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	19	2580_2584	-			721_723			W2.			Frame_Shift_Del	DEL	ENST00000526148.1	37	c.2163_2167delAAAGG	CCDS31428.1																																																																																				0.385	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		10	46	NA	NA	NA	NA	10	46	---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56717351	56717351	+	Frame_Shift_Del	DEL	T	T	-	rs138946880		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:56717351delT	ENST00000425394.2	-	15	2592	c.2216delA	c.(2215-2217)gatfs	p.D739fs	PAN2_ENST00000548043.1_Frame_Shift_Del_p.D739fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.D735fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.D738fs	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)	GACAAGAATATCTGGCAGATG	0.488																																						uc001skx.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(2215-2217)GATfs		PAN2 polyA specific ribonuclease subunit homolog							77.0	76.0	76.0					12																	56717351		2203	4300	6503	SO:0001589	frameshift_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.chr12:56717351delT	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.2216delA	12.37:g.56717351delT	ENSP00000401721:p.Asp739fs					PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Frame_Shift_Del_p.D738fs|PAN2_uc001sky.2_Frame_Shift_Del_p.D735fs	p.D739fs	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			15	2589	-			739						Frame_Shift_Del	DEL	ENST00000425394.2	37	c.2216delA	CCDS44922.1																																																																																				0.488	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		26	49	NA	NA	NA	NA	26	49	---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31597034	31597034	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr14:31597034delG	ENST00000399332.1	-	26	5426	c.4938delC	c.(4936-4938)tccfs	p.S1647fs	HECTD1_ENST00000553700.1_Frame_Shift_Del_p.S1647fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1647	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CACTCTCACTGGAAGTTGATG	0.353																																						uc001wrc.1		NA																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(4936-4938)TCCfs		HECT domain containing 1							150.0	137.0	141.0					14																	31597034		1905	4132	6037	SO:0001589	frameshift_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31597034delG	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4938delC	14.37:g.31597034delG	ENSP00000382269:p.Ser1647fs					HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Frame_Shift_Del_p.S1114fs	p.S1646fs	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	26	5427	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1646			Ser-rich.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Frame_Shift_Del	DEL	ENST00000399332.1	37	c.4938delC	CCDS41939.1																																																																																				0.353	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			17	80	NA	NA	NA	NA	17	80	---	---	---	---
ZNF440	126070	broad.mit.edu	37	19	11943494	11943494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:11943494delT	ENST00000304060.5	+	4	1667	c.1503delT	c.(1501-1503)cctfs	p.P501fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTCCAGTTCCTTTTGATATCA	0.413																																						uc002msp.1		NA																	0					0						c.(1501-1503)CCTfs		zinc finger protein 440							60.0	65.0	63.0					19																	11943494		2177	4292	6469	SO:0001589	frameshift_variant	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943494delT	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.1503delT	19.37:g.11943494delT	ENSP00000305373:p.Pro501fs						p.P501fs	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	1659	+			501					Q8N1R9	Frame_Shift_Del	DEL	ENST00000304060.5	37	c.1503delT	CCDS42503.1																																																																																				0.413	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		12	52	NA	NA	NA	NA	12	52	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140167413	140167413	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:140167413delC	ENST00000458420.3	+	6	1030	c.840delC	c.(838-840)ttcfs	p.F280fs	RP11-68L1.2_ENST00000509191.1_RNA|RP11-68L1.2_ENST00000502712.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	280	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCCCCTGTTCCCCAGCATCC	0.537										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(838-840)TTCfs		calsyntenin 2 precursor							125.0	118.0	121.0					3																	140167413		2203	4300	6503	SO:0001589	frameshift_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140167413delC	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.840delC	3.37:g.140167413delC	ENSP00000402460:p.Phe280fs	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Frame_Shift_Del_p.F280fs	p.F280fs	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			6	1030	+			280			Extracellular (Potential).|Cadherin 2.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Frame_Shift_Del	DEL	ENST00000458420.3	37	c.840delC	CCDS3112.1																																																																																				0.537	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		72	112	NA	NA	NA	NA	72	112	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						uc003uly.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1108-1110)ATTfs		peroxin1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.I370fs	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1204	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		18	1074	NA	NA	NA	NA	18	1074	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)agafs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495																																						uc003upd.1		NA																	0				lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(1090-1092)AGAfs		lemur tyrosine kinase 2 precursor																																				SO:0001589	frameshift_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97820131_97820132delAG	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1090_1091delAG	7.37:g.97820139_97820140delAG	ENSP00000297293:p.Arg364fs						p.R364fs	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			10	1383_1384	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		364			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Frame_Shift_Del	DEL	ENST00000297293.5	37	c.1090_1091delAG	CCDS5654.1																																																																																				0.495	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		9	1358	NA	NA	NA	NA	9	1358	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149488643	149488643	+	RNA	DEL	C	C	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:149488643delC	ENST00000378016.2	+	0	5094							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCCTGGGGCCCCTGGAGCC	0.721																																						uc010lpk.2		NA																	0					0						c.(5092-5094)GGCfs		SCO-spondin precursor							5.0	7.0	6.0					7																	149488643		1765	3912	5677			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149488643delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149488643delC							p.G1698fs	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		35	5094	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1698			TSP type-1 1.		Q76B61	Frame_Shift_Del	DEL	ENST00000378016.2	37	c.5094delC																																																																																					0.721	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	4	NA	NA	NA	NA	2	4	---	---	---	---
PTDSS1	9791	broad.mit.edu	37	8	97318687	97318687	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr8:97318687delA	ENST00000517309.1	+	8	1236	c.910delA	c.(910-912)accfs	p.T304fs	Y_RNA_ENST00000362862.1_RNA|PTDSS1_ENST00000522072.1_Frame_Shift_Del_p.T101fs|PTDSS1_ENST00000455950.2_Frame_Shift_Del_p.T158fs	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	304					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TGAGTTGAATACCTTCTTCTT	0.393																																						uc003yht.1		NA																	0				ovary(1)	1						c.(910-912)ACCfs		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						188.0	175.0	180.0					8																	97318687		2203	4300	6503	SO:0001589	frameshift_variant	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97318687delA	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.910delA	8.37:g.97318687delA	ENSP00000430548:p.Thr304fs					PTDSS1_uc003yhu.1_Frame_Shift_Del_p.T158fs	p.T304fs	NM_014754	NP_055569	P48651	PTSS1_HUMAN			8	1012	+	Breast(36;6.18e-05)		304			Helical; (Potential).		E5RFC5|Q9BUQ5	Frame_Shift_Del	DEL	ENST00000517309.1	37	c.910delA	CCDS6271.1																																																																																				0.393	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			67	92	NA	NA	NA	NA	67	92	---	---	---	---
