#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
EPHA2	1969	broad.mit.edu	37	1	16464437	16464437	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:16464437T>C	ENST00000358432.5	-	5	1377	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	408	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGTGAAGGTGTAGTTCATGTG	0.627																																						uc001aya.1		NaN																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(1222-1224)TAC>TGC		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						69.0	67.0	68.0					1																	16464437		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464437T>C	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1223A>G	1.37:g.16464437T>C	ENSP00000351209:p.Tyr408Cys					EPHA2_uc010oca.1_Missense_Mutation_p.Y408C	p.Y408C	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1360	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	408			Extracellular (Potential).|Fibronectin type-III 1.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1223A>G	CCDS169.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277178	0.80580	.	.	ENSG00000142627	ENST00000358432	D	0.89343	-2.5	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000224	D	0.95564	0.8558	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96419	0.9310	10	0.87932	D	0	.	12.9139	0.58195	0.0:0.0:0.0:1.0	.	408;408	B5A968;P29317	.;EPHA2_HUMAN	C	408	ENSP00000351209:Y408C	ENSP00000351209:Y408C	Y	-	2	0	EPHA2	16337024	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.000000	0.88501	2.013000	0.59113	0.459000	0.35465	TAC		0.627	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1		NM_004431		46	36	0	0	0	0.00361	0	46	36		
ARHGEF10L	55160	broad.mit.edu	37	1	17939589	17939589	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:17939589G>A	ENST00000361221.3	+	8	805	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.A216T|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000375420.3_Intron	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	216						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGAGAGATACGCCAGGACTAA	0.547																																						uc001ban.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(646-648)GCC>ACC		Rho guanine nucleotide exchange factor (GEF)							135.0	131.0	132.0					1																	17939589		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17939589G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.646G>A	1.37:g.17939589G>A	ENSP00000355060:p.Ala216Thr					ARHGEF10L_uc009vpe.1_Intron|ARHGEF10L_uc001bao.2_Intron|ARHGEF10L_uc001bap.2_Intron|ARHGEF10L_uc010ocr.1_Intron|ARHGEF10L_uc001baq.2_5'Flank	p.A216T	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	8	805	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	216					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.646G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	g	9.920	1.211910	0.22289	.	.	ENSG00000074964	ENST00000361221;ENST00000434513	T;T	0.59364	0.45;0.27	4.94	2.83	0.33086	.	0.538297	0.16657	N	0.204938	T	0.37348	0.1000	L	0.29908	0.895	0.80722	D	1	B	0.32781	0.384	B	0.16289	0.015	T	0.06789	-1.0807	10	0.15952	T	0.53	-8.5165	10.5784	0.45240	0.0:0.0:0.5792:0.4207	.	216	Q9HCE6	ARGAL_HUMAN	T	216	ENSP00000355060:A216T;ENSP00000394621:A216T	ENSP00000355060:A216T	A	+	1	0	ARHGEF10L	17812176	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.297000	0.43593	0.304000	0.22809	0.558000	0.71614	GCC		0.547	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1		NM_018125		28	126	0	0	0	0.002836	0	28	126		
EIF4G3	8672	broad.mit.edu	37	1	21186926	21186926	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:21186926C>G	ENST00000264211.8	-	18	3222	c.3028G>C	c.(3028-3030)Gag>Cag	p.E1010Q	EIF4G3_ENST00000537738.1_Missense_Mutation_p.E500Q|EIF4G3_ENST00000536266.1_Missense_Mutation_p.E614Q|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E730Q|EIF4G3_ENST00000602326.1_Missense_Mutation_p.E1016Q|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1016Q|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1010Q	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1010	eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTCCTTTGCTCTTCTTGTTCT	0.428																																						uc001bec.2		NaN																	0				skin(1)	1						c.(3028-3030)GAG>CAG		eukaryotic translation initiation factor 4							240.0	221.0	227.0					1																	21186926		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21186926C>G	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3028G>C	1.37:g.21186926C>G	ENSP00000264211:p.Glu1010Gln					EIF4G3_uc010odi.1_Missense_Mutation_p.E614Q|EIF4G3_uc010odj.1_Missense_Mutation_p.E1009Q|EIF4G3_uc009vpz.2_Missense_Mutation_p.E730Q|EIF4G3_uc001bed.2_Missense_Mutation_p.E1010Q|EIF4G3_uc001bef.2_Missense_Mutation_p.E1046Q|EIF4G3_uc001bee.2_Missense_Mutation_p.E1016Q	p.E1010Q	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	19	3284	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1010			eIF3/EIF4A-binding (By similarity).|Potential.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3028G>C	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642505	0.87859	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.07567	3.73;3.73;3.55;3.18;3.73;3.42	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	L	0.28556	0.865	0.80722	D	1	D;P;D;P;B	0.89917	1.0;0.884;0.959;0.953;0.138	D;P;P;P;B	0.85130	0.997;0.54;0.835;0.532;0.092	T	0.01326	-1.1384	10	0.38643	T	0.18	-16.7824	19.4217	0.94725	0.0:1.0:0.0:0.0	.	1205;730;614;1016;1010	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	Q	1010;1206;1010;730;500;1016;614	ENSP00000264211:E1010Q;ENSP00000383274:E1010Q;ENSP00000364071:E730Q;ENSP00000442010:E500Q;ENSP00000364073:E1016Q;ENSP00000444693:E614Q	ENSP00000264211:E1010Q	E	-	1	0	EIF4G3	21059513	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.969000	0.70422	2.609000	0.88269	0.650000	0.86243	GAG		0.428	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		58	63	0	0	0	0.00361	0	58	63		
BAI2	576	broad.mit.edu	37	1	32222088	32222088	+	Missense_Mutation	SNP	G	G	A	rs145025368	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:32222088G>A	ENST00000373658.3	-	4	691	c.350C>T	c.(349-351)gCg>gTg	p.A117V	BAI2_ENST00000398538.1_Missense_Mutation_p.A105V|BAI2_ENST00000398547.1_Missense_Mutation_p.A105V|BAI2_ENST00000398556.3_Missense_Mutation_p.A120V|BAI2_ENST00000373655.2_Missense_Mutation_p.A117V|BAI2_ENST00000257070.4_Missense_Mutation_p.A117V|BAI2_ENST00000527361.1_Missense_Mutation_p.A117V|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398542.1_Missense_Mutation_p.A105V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	117					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGGGCCACCGCCTCCTCGGG	0.687													G|||	3	0.000599042	0.0	0.0029	5008	,	,		14875	0.0		0.001	False		,,,				2504	0.0					uc001btn.2		NaN																	0				lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(349-351)GCG>GTG		brain-specific angiogenesis inhibitor 2		G	VAL/ALA	2,4386		0,2,2192	15.0	16.0	15.0		350	0.6	0.2	1	dbSNP_134	15	1,8589		0,1,4294	yes	missense	BAI2	NM_001703.2	64	0,3,6486	AA,AG,GG		0.0116,0.0456,0.0231	benign	117/1586	32222088	3,12975	2194	4295	6489	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32222088G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.350C>T	1.37:g.32222088G>A	ENSP00000362762:p.Ala117Val					BAI2_uc010ogp.1_Missense_Mutation_p.A105V|BAI2_uc010ogq.1_Missense_Mutation_p.A117V|BAI2_uc001bto.2_Missense_Mutation_p.A117V|BAI2_uc001btq.1_Missense_Mutation_p.A105V|BAI2_uc010ogr.1_Missense_Mutation_p.A105V	p.A117V	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	704	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	117			Extracellular (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.350C>T	CCDS346.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.021	-1.425213	0.01126	4.56E-4	1.16E-4	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.44482	1.58;1.78;0.97;0.97;1.95;0.92;0.92;0.99;1.56;1.39	5.3	0.607	0.17564	.	0.744567	0.11554	N	0.552502	T	0.26991	0.0661	N	0.08118	0	0.36229	D	0.852509	B;B;D;B;B;D	0.65815	0.002;0.0;0.995;0.307;0.0;0.989	B;B;P;B;B;B	0.49887	0.001;0.001;0.625;0.019;0.001;0.32	T	0.30736	-0.9968	10	0.52906	T	0.07	.	5.4939	0.16791	0.2447:0.0:0.5517:0.2036	.	105;117;105;105;117;117	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	V	120;105;117;117;105;117;117;105;110;151	ENSP00000381564:A120V;ENSP00000381555:A105V;ENSP00000362762:A117V;ENSP00000362759:A117V;ENSP00000381550:A105V;ENSP00000257070:A117V;ENSP00000435397:A117V;ENSP00000381548:A105V;ENSP00000410921:A110V;ENSP00000437219:A151V	ENSP00000257070:A117V	A	-	2	0	BAI2	31994675	0.001000	0.12720	0.226000	0.23910	0.384000	0.30261	0.525000	0.22956	0.328000	0.23435	0.462000	0.41574	GCG		0.687	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1		NM_001703		3	14	0	0	0	0.004672	0	3	14		
CYP4B1	1580	broad.mit.edu	37	1	47279201	47279201	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:47279201C>G	ENST00000271153.4	+	5	579	c.543C>G	c.(541-543)ttC>ttG	p.F181L	CYP4B1_ENST00000371923.4_Missense_Mutation_p.F181L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.F18L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.F166L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	181					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TTGACATCTTCTGCGATGTGG	0.572																																						uc001cqm.3		NaN																	0				ovary(1)|skin(1)	2						c.(541-543)TTC>TTG		cytochrome P450, family 4, subfamily B,							124.0	117.0	120.0					1																	47279201		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279201C>G	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.543C>G	1.37:g.47279201C>G	ENSP00000271153:p.Phe181Leu					CYP4B1_uc009vyl.1_Missense_Mutation_p.F18L|CYP4B1_uc001cqn.3_Missense_Mutation_p.F181L|CYP4B1_uc009vym.2_Missense_Mutation_p.F166L|CYP4B1_uc010omk.1_Missense_Mutation_p.F18L|CYP4B1_uc010oml.1_Missense_Mutation_p.F18L	p.F181L	NM_000779	NP_000770	P13584	CP4B1_HUMAN			5	627	+	Acute lymphoblastic leukemia(166;0.155)		181					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.543C>G	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676715	0.47886	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000526297;ENST00000452782;ENST00000468637	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.21	4.28	0.50868	.	0.104110	0.64402	D	0.000002	T	0.70876	0.3274	M	0.62154	1.92	0.42923	D	0.994292	P;P;B;P	0.49358	0.749;0.923;0.4;0.455	B;P;B;B	0.51657	0.237;0.676;0.251;0.367	T	0.74791	-0.3545	10	0.72032	D	0.01	.	11.1912	0.48685	0.0:0.8166:0.0:0.1834	.	18;166;181;181	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	L	181;181;166;18;18;18	ENSP00000360991:F181L;ENSP00000271153:F181L;ENSP00000360987:F166L;ENSP00000438995:F18L;ENSP00000400413:F18L;ENSP00000437670:F18L	ENSP00000271153:F181L	F	+	3	2	CYP4B1	47051788	0.792000	0.28813	0.991000	0.47740	0.142000	0.21351	1.320000	0.33666	2.440000	0.82611	0.591000	0.81541	TTC		0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1		NM_000779		17	80	0	0	0	0.008871	0	17	80		
SLC44A5	204962	broad.mit.edu	37	1	75862289	75862289	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:75862289G>A	ENST00000370855.5	-	3	144	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P11S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	11					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCCTCAGAGGGAGTATCTGCT	0.363																																						uc001dgu.2		NaN																	0				ovary(2)|skin(2)	4						c.(31-33)CCC>TCC		solute carrier family 44, member 5 isoform A							110.0	113.0	112.0					1																	75862289		2203	4299	6502	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75862289G>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.31C>T	1.37:g.75862289G>A	ENSP00000359892:p.Pro11Ser					SLC44A5_uc001dgt.2_Missense_Mutation_p.P11S|SLC44A5_uc001dgs.2_5'UTR|SLC44A5_uc001dgr.2_5'UTR|SLC44A5_uc010oqz.1_Missense_Mutation_p.P50S|SLC44A5_uc010ora.1_Intron|SLC44A5_uc010orb.1_5'UTR	p.P11S	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			3	175	-			11			Cytoplasmic (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.31C>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	1.585	-0.530535	0.04112	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855	T;T	0.08807	3.05;3.05	3.81	-7.62	0.01294	.	4.932270	0.00397	N	0.000045	T	0.00967	0.0032	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.001;0.004	B;B;B	0.12837	0.006;0.001;0.008	T	0.30621	-0.9972	10	0.20519	T	0.43	2.627	5.2197	0.15362	0.1152:0.2704:0.525:0.0894	.	50;11;11	B7Z470;Q8NCS7;Q8NCS7-2	.;CTL5_HUMAN;.	S	11;50;11	ENSP00000359896:P11S;ENSP00000359892:P11S	ENSP00000359892:P11S	P	-	1	0	SLC44A5	75634877	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.850000	0.01670	-3.721000	0.00115	-1.832000	0.00591	CCC		0.363	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1		NM_152697		63	51	0	0	0	0.00361	0	63	51		
ARHGAP29	9411	broad.mit.edu	37	1	94697113	94697113	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:94697113G>C	ENST00000260526.6	-	2	237	c.55C>G	c.(55-57)Caa>Gaa	p.Q19E	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.Q19E	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	19					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTAGAGAGTTGACCTGATGCC	0.388																																						uc001dqj.3		NaN																	0				breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(55-57)CAA>GAA		PTPL1-associated RhoGAP 1							185.0	182.0	183.0					1																	94697113		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94697113G>C		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.55C>G	1.37:g.94697113G>C	ENSP00000260526:p.Gln19Glu					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.Q19E	p.Q19E	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	2	424	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	19					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.55C>G	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585737	0.46110	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.22336	2.01;1.96	5.53	5.53	0.82687	.	0.000000	0.34460	N	0.003950	T	0.08670	0.0215	L	0.36672	1.1	0.27020	N	0.964494	P;P	0.43231	0.759;0.801	B;B	0.37692	0.256;0.201	T	0.07578	-1.0765	10	0.62326	D	0.03	-19.1651	12.3377	0.55077	0.0:0.0:0.8315:0.1685	.	19;19	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	E	19	ENSP00000260526:Q19E;ENSP00000359237:Q19E	ENSP00000260526:Q19E	Q	-	1	0	ARHGAP29	94469701	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	3.600000	0.54052	2.770000	0.95276	0.655000	0.94253	CAA		0.388	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2		NM_004815		20	154	0	0	0	0.005443	0	20	154		
DBT	1629	broad.mit.edu	37	1	100706396	100706396	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:100706396C>A	ENST00000370132.4	-	2	109	c.96G>T	c.(94-96)ttG>ttT	p.L32F	DBT_ENST00000370131.3_Missense_Mutation_p.L32F	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	32					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AATTTGGCTTCAAAACATGAA	0.323																																						uc001dta.2		NaN																	0				pancreas(1)	1						c.(94-96)TTG>TTT		dihydrolipoamide branched chain transacylase							118.0	117.0	117.0					1																	100706396		2203	4297	6500	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100706396C>A	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.96G>T	1.37:g.100706396C>A	ENSP00000359151:p.Leu32Phe					DBT_uc010oug.1_5'UTR	p.L32F	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	2	129	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	32					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.96G>T	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161113	0.38119	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.34275	1.4;1.37	5.69	3.81	0.43845	.	0.615912	0.16480	N	0.212588	T	0.10723	0.0262	N	0.19112	0.55	0.34372	D	0.692146	B	0.06786	0.001	B	0.06405	0.002	T	0.06058	-1.0848	10	0.51188	T	0.08	-11.2396	8.455	0.32893	0.0:0.7634:0.0:0.2366	.	32	P11182	ODB2_HUMAN	F	32	ENSP00000359151:L32F;ENSP00000359150:L32F	ENSP00000359150:L32F	L	-	3	2	DBT	100478984	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	0.115000	0.15540	1.543000	0.49345	0.655000	0.94253	TTG		0.323	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2		NM_001918		45	56	1	0	5.82388e-19	0.00361	6.16791e-19	45	56		
ATP1A1	476	broad.mit.edu	37	1	116941293	116941293	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:116941293G>A	ENST00000295598.5	+	16	2427	c.2175G>A	c.(2173-2175)ttG>ttA	p.L725L	ATP1A1_ENST00000537345.1_Silent_p.L725L|ATP1A1_ENST00000369496.4_Silent_p.L694L	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	725					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CTCCAGCTTTGAAGAAAGCAG	0.483																																						uc001ege.2		NaN																	0				ovary(1)	1						c.(2173-2175)TTG>TTA		Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						220.0	210.0	213.0					1																	116941293		2203	4300	6503	SO:0001819	synonymous_variant	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116941293G>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2175G>A	1.37:g.116941293G>A						ATP1A1_uc010owv.1_Silent_p.L694L|ATP1A1_uc010oww.1_Silent_p.L725L|ATP1A1_uc010owx.1_Silent_p.L694L|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank	p.L725L	NM_000701	NP_000692	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	16	2514	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	725			Cytoplasmic (Potential).		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	c.2175G>A	CCDS887.1																																																																																				0.483	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5		NM_001160233		31	160	0	0	0	0.004878	0	31	160		
PDE4DIP	9659	broad.mit.edu	37	1	144946680	144946680	+	Missense_Mutation	SNP	C	C	T	rs144942272		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:144946680C>T	ENST00000369354.3	-	5	770	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R194Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R331Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R331Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R194Q|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R194Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R260Q|RNU2-38P_ENST00000410856.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	194					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGTTTCTCCCGAGATAGCTG	0.458			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(580-582)CGG>CAG		phosphodiesterase 4D interacting protein isoform		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	146.0	127.0	133.0		581,581,779,581	-2.8	0.0	1	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	PDE4DIP	NM_014644.4,NM_001198834.2,NM_001198832.1,NM_001002812.1	43,43,43,43	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	benign,benign,benign,benign	194/2347,194/2363,260/2241,194/970	144946680	4,13002	2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144946680C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.581G>A	1.37:g.144946680C>T	ENSP00000358360:p.Arg194Gln					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R260Q|PDE4DIP_uc001emc.1_Missense_Mutation_p.R194Q|PDE4DIP_uc001emd.1_Missense_Mutation_p.R194Q	p.R194Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	5	872	-			194			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.581G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	0.727	-0.781306	0.02929	6.81E-4	1.16E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078	T;T;T;T;T;T;T	0.03413	4.8;4.93;4.91;4.89;4.89;3.94;3.94	5.16	-2.76	0.05896	.	.	.	.	.	T	0.00440	0.0014	N	0.04043	-0.29	0.09310	N	1	B;B;B	0.26775	0.0;0.159;0.0	B;B;B	0.17722	0.0;0.019;0.0	T	0.42632	-0.9440	9	0.06757	T	0.87	.	10.2019	0.43089	0.0:0.4299:0.0:0.5701	.	194;260;194	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	Q	260;194;194;331;331;194;194;260	ENSP00000327209:R260Q;ENSP00000358360:R194Q;ENSP00000358363:R194Q;ENSP00000435654:R331Q;ENSP00000358366:R331Q;ENSP00000358357:R194Q;ENSP00000358355:R194Q	ENSP00000327209:R260Q	R	-	2	0	PDE4DIP	143658037	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-1.166000	0.03129	-0.287000	0.09064	-0.137000	0.14449	CGG		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		8	67	0	0	0	0.004482	0	8	67		
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						uc001end.3		NaN																	4	Substitution - coding silent(4)		prostate(3)|kidney(1)		0						c.(10558-10560)AAA>AAG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.K3520K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10595	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10560A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001039703		3	50	0	0	0	0.009096	0	3	50		
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						uc001end.3		NaN																	5	Substitution - Missense(5)		skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)		0						c.(10588-10590)GAA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.E3530K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10623	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10588G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001039703		7	45	0	0	0	0.006214	0	7	45		
ECM1	1893	broad.mit.edu	37	1	150484939	150484939	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:150484939C>T	ENST00000369047.4	+	8	1320	c.1195C>T	c.(1195-1197)Cgg>Tgg	p.R399W	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.R426W|ECM1_ENST00000346569.6_Missense_Mutation_p.R274W	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	399	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTTTGCCCGTCGGGCTCCTTA	0.567																																					Melanoma(156;1696 2560 11093 19685)	uc001eus.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1195-1197)CGG>TGG		extracellular matrix protein 1 isoform 1							113.0	100.0	104.0					1																	150484939		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150484939C>T	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1195C>T	1.37:g.150484939C>T	ENSP00000358043:p.Arg399Trp					ECM1_uc001eut.2_Missense_Mutation_p.R274W|ECM1_uc001euu.2_Missense_Mutation_p.R428W|ECM1_uc001euv.2_Missense_Mutation_p.R426W|ECM1_uc009wlu.2_Missense_Mutation_p.R159W	p.R399W	NM_004425	NP_004416	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		8	1394	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		399			2 X approximate repeats.|2.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.1195C>T	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	4.301	0.055202	0.08291	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	D;D;D	0.85861	-2.04;-2.04;-2.04	4.17	1.15	0.20763	.	1.724110	0.03262	N	0.183391	T	0.64994	0.2649	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.28324	0.084;0.059;0.207;0.169	B;B;B;B	0.24269	0.016;0.052;0.046;0.04	T	0.55717	-0.8097	10	0.66056	D	0.02	0.2134	3.9209	0.09244	0.1844:0.6112:0.0:0.2044	.	426;399;274;399	Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;ECM1_HUMAN	W	426;399;274	ENSP00000358045:R426W;ENSP00000358043:R399W;ENSP00000271630:R274W	ENSP00000271630:R274W	R	+	1	2	ECM1	148751563	0.000000	0.05858	0.001000	0.08648	0.224000	0.24922	0.715000	0.25822	0.122000	0.18314	0.462000	0.41574	CGG		0.567	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2		NM_004425		21	100	0	0	0	0.00278	0	21	100		
FLG2	388698	broad.mit.edu	37	1	152325463	152325463	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:152325463C>T	ENST00000388718.5	-	3	4871	c.4799G>A	c.(4798-4800)gGc>gAc	p.G1600D	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1600					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGGCTTGGCCGTAAGTGTG	0.507																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4798-4800)GGC>GAC		filaggrin family member 2							346.0	300.0	316.0					1																	152325463		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325463C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4799G>A	1.37:g.152325463C>T	ENSP00000373370:p.Gly1600Asp					uc001ezv.2_Intron	p.G1600D	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4872	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1600					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4799G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	9.040	0.989432	0.18966	.	.	ENSG00000143520	ENST00000388718	T	0.13420	2.59	3.74	1.8	0.24995	.	.	.	.	.	T	0.07458	0.0188	L	0.56280	1.765	0.09310	N	1	D	0.59357	0.985	P	0.51974	0.686	T	0.23297	-1.0192	9	0.21014	T	0.42	2.6657	6.5678	0.22521	0.0:0.778:0.0:0.222	.	1600	Q5D862	FILA2_HUMAN	D	1600	ENSP00000373370:G1600D	ENSP00000373370:G1600D	G	-	2	0	FLG2	150592087	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.484000	0.22308	0.210000	0.20664	0.134000	0.15878	GGC		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		145	131	0	0	0	0.00361	0	145	131		
F5	2153	broad.mit.edu	37	1	169510442	169510442	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:169510442G>C	ENST00000367797.3	-	13	4087	c.3886C>G	c.(3886-3888)Cca>Gca	p.P1296A	F5_ENST00000367796.3_Missense_Mutation_p.P1301A	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1296	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTGAGTTCTGGAGAGAGGTTT	0.522																																						uc001ggg.1		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3886-3888)CCA>GCA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						247.0	273.0	264.0					1																	169510442		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510442G>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3886C>G	1.37:g.169510442G>C	ENSP00000356771:p.Pro1296Ala						p.P1296A	NM_000130	NP_000121	P12259	FA5_HUMAN			13	4031	-	all_hematologic(923;0.208)		1296			2-13.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3886C>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627740	0.46944	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.36157	1.27;1.27	4.82	1.79	0.24919	.	0.885835	0.09871	N	0.744929	T	0.16214	0.0390	L	0.57536	1.79	0.25062	N	0.991058	B	0.14438	0.01	B	0.08055	0.003	T	0.15925	-1.0420	9	0.62326	D	0.03	-6.0589	6.9264	0.24418	0.1778:0.1493:0.6729:0.0	.	1296	P12259	FA5_HUMAN	A	1296;1301	ENSP00000356771:P1296A;ENSP00000356770:P1301A	ENSP00000356770:P1301A	P	-	1	0	F5	167777066	0.009000	0.17119	0.019000	0.16419	0.007000	0.05969	1.145000	0.31577	0.537000	0.28751	0.555000	0.69702	CCA		0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130		151	173	0	0	0	0.00361	0	151	173		
RYR2	6262	broad.mit.edu	37	1	237944916	237944916	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:237944916A>T	ENST00000366574.2	+	89	12249	c.11932A>T	c.(11932-11934)Atg>Ttg	p.M3978L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.M3962L|RYR2_ENST00000360064.6_Missense_Mutation_p.M3984L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3978					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAGAAGGATATGGTGGTCAT	0.318																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11932-11934)ATG>TTG		cardiac muscle ryanodine receptor							128.0	124.0	125.0					1																	237944916		1915	4174	6089	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237944916A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11932A>T	1.37:g.237944916A>T	ENSP00000355533:p.Met3978Leu					RYR2_uc010pya.1_Missense_Mutation_p.M393L	p.M3978L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		89	12052	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3978			Helical; Name=M2; (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11932A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	31	5.061663	0.93846	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97016	-4.21;-4.17;-4.2	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	L	0.59436	1.845	0.80722	D	1	P;D	0.56521	0.812;0.976	P;D	0.65233	0.801;0.933	D	0.97392	0.9990	10	0.49607	T	0.09	-19.2801	15.8729	0.79136	1.0:0.0:0.0:0.0	.	952;3978	B4DGV4;Q92736	.;RYR2_HUMAN	L	3978;3984;3962;952	ENSP00000355533:M3978L;ENSP00000353174:M3984L;ENSP00000443798:M3962L	ENSP00000353174:M3984L	M	+	1	0	RYR2	236011539	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	2.155000	0.67459	0.533000	0.62120	ATG		0.318	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		3	5	0	0	0	0.000602	0	3	5		
ITGA8	8516	broad.mit.edu	37	10	15760899	15760899	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:15760899C>G	ENST00000378076.3	-	2	563		c.e2-1			NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8						brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GACACTCGCTCTGCAAAAGAG	0.607																																						uc001ioc.1		NaN																	0				ovary(3)|lung(3)	6						c.e2-1		integrin, alpha 8 precursor							69.0	64.0	66.0					10																	15760899		2203	4300	6503	SO:0001630	splice_region_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15760899C>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.210-1G>C	10.37:g.15760899C>G						ITGA8_uc010qcb.1_Splice_Site_p.T70_splice	p.T70_splice	NM_003638	NP_003629	P53708	ITA8_HUMAN			2	210	-								B0YJ31|Q5VX94	Splice_Site	SNP	ENST00000378076.3	37	c.210_splice	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998956	0.74818	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.029	0.89277	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA8	15800905	1.000000	0.71417	0.983000	0.44433	0.913000	0.54294	7.157000	0.77461	2.492000	0.84095	0.561000	0.74099	.		0.607	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1		NM_003638	Intron	39	55	0	0	0	0.00874	0	39	55		
FAM13C	220965	broad.mit.edu	37	10	61012730	61012730	+	Missense_Mutation	SNP	C	C	T	rs369226393		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:61012730C>T	ENST00000373868.2	-	12	1448	c.1361G>A	c.(1360-1362)cGt>cAt	p.R454H	FAM13C_ENST00000468840.2_Missense_Mutation_p.R371H|FAM13C_ENST00000442566.3_Missense_Mutation_p.R475H|FAM13C_ENST00000435852.2_Missense_Mutation_p.R454H|FAM13C_ENST00000419214.2_Missense_Mutation_p.R356H|FAM13C_ENST00000373867.3_Missense_Mutation_p.R370H|FAM13C_ENST00000277705.6_Missense_Mutation_p.R474H	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	454										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCCTGTGGACGGTCTTCATC	0.483																																						uc001jkn.2		NaN																	0				ovary(2)	2						c.(1360-1362)CGT>CAT		hypothetical protein LOC220965 isoform 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	171.0	158.0	162.0		1067,1112,1109,1361	-2.1	0.9	10		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	FAM13C	NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	356/488,371/503,370/502,454/586	61012730	1,13005	2203	4300	6503	SO:0001583	missense	220965							g.chr10:61012730C>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1361G>A	10.37:g.61012730C>T	ENSP00000362975:p.Arg454His					FAM13C_uc001jko.2_Missense_Mutation_p.R356H|FAM13C_uc010qid.1_Missense_Mutation_p.R370H|FAM13C_uc010qie.1_Missense_Mutation_p.R371H|FAM13C_uc010qif.1_Missense_Mutation_p.R476H	p.R454H	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			13	1495	-			454					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1361G>A	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885318	0.33255	0.0	1.16E-4	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852	T;T;T;T;T	0.43294	0.97;0.98;0.95;0.97;1.0	5.72	-2.12	0.07165	.	0.861912	0.10625	N	0.652873	T	0.14141	0.0342	N	0.01352	-0.895	0.19300	N	0.99998	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.22277	-1.0221	10	0.40728	T	0.16	2.668	7.212	0.25939	0.0:0.3619:0.1833:0.4548	.	454;370;356;454	B7Z2K3;B7ZB77;Q8NE31-3;Q8NE31	.;.;.;FA13C_HUMAN	H	370;454;475;474;356;371;454	ENSP00000362975:R454H;ENSP00000395661:R475H;ENSP00000277705:R474H;ENSP00000391993:R356H;ENSP00000392302:R454H	ENSP00000277705:R474H	R	-	2	0	FAM13C	60682736	0.026000	0.19158	0.931000	0.37212	0.670000	0.39368	-0.088000	0.11198	-0.257000	0.09459	-0.940000	0.02684	CGT		0.483	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2				29	53	0	0	0	0.003271	0	29	53		
PDE6C	5146	broad.mit.edu	37	10	95396758	95396758	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:95396758C>G	ENST00000371447.3	+	11	1558	c.1420C>G	c.(1420-1422)Caa>Gaa	p.Q474E		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	474					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)	p.Q474*(1)		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)	TTAGAAATTTCAAGAGAAGTT	0.289																																						uc001kiu.3		NaN																	1	Substitution - Nonsense(1)		skin(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1420-1422)CAA>GAA		phosphodiesterase 6C							70.0	71.0	71.0					10																	95396758		2201	4299	6500	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95396758C>G	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.1420C>G	10.37:g.95396758C>G	ENSP00000360502:p.Gln474Glu						p.Q474E	NM_006204	NP_006195	P51160	PDE6C_HUMAN			11	1558	+		Colorectal(252;0.123)	474					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1420C>G	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720657	0.30503	.	.	ENSG00000095464	ENST00000371447	T	0.62788	-0.0	5.0	2.63	0.31362	.	0.235993	0.48767	D	0.000161	T	0.47173	0.1431	N	0.22421	0.69	0.26034	N	0.98171	B	0.12630	0.006	B	0.10450	0.005	T	0.46373	-0.9196	10	0.72032	D	0.01	.	12.0426	0.53462	0.7188:0.2812:0.0:0.0	.	474	P51160	PDE6C_HUMAN	E	474	ENSP00000360502:Q474E	ENSP00000360502:Q474E	Q	+	1	0	PDE6C	95386748	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.790000	0.55461	0.459000	0.27016	-0.397000	0.06425	CAA		0.289	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1		NM_006204		17	10	0	0	0	0.008871	0	17	10		
NRAP	4892	broad.mit.edu	37	10	115401142	115401142	+	Silent	SNP	A	A	G	rs371038249		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:115401142A>G	ENST00000359988.3	-	13	1549	c.1305T>C	c.(1303-1305)gtT>gtC	p.V435V	NRAP_ENST00000369360.3_Silent_p.V400V|NRAP_ENST00000369358.4_Silent_p.V435V|NRAP_ENST00000360478.3_Silent_p.V400V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCAGGCTGCCAACTTTCATAG	0.458																																						uc001laj.2		NaN																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(1303-1305)GTT>GTC		nebulin-related anchoring protein isoform S		A	,	1,4405	2.1+/-5.4	0,1,2202	151.0	130.0	137.0		1200,1305	-2.2	1.0	10		137	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NRAP	NM_006175.3,NM_198060.2	,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,	400/1696,435/1731	115401142	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115401142A>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1305T>C	10.37:g.115401142A>G						NRAP_uc001lak.2_Silent_p.V400V|NRAP_uc001lal.3_Silent_p.V435V	p.V435V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	13	1469	-		Colorectal(252;0.0233)|Breast(234;0.188)	435			Nebulin 10.			Silent	SNP	ENST00000359988.3	37	c.1305T>C	CCDS7579.1																																																																																				0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2		NM_006175		51	26	0	0	0	0.00361	0	51	26		
SEC23IP	11196	broad.mit.edu	37	10	121652431	121652431	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:121652431C>G	ENST00000369075.3	+	1	209	c.137C>G	c.(136-138)tCt>tGt	p.S46C	SEC23IP_ENST00000543134.1_Missense_Mutation_p.L13V	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	46	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCCTCCGCTTCTCCGGCCTCC	0.622																																						uc001leu.1		NaN																	0				ovary(3)	3						c.(136-138)TCT>TGT		Sec23-interacting protein p125							41.0	39.0	40.0					10																	121652431		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121652431C>G	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.137C>G	10.37:g.121652431C>G	ENSP00000358071:p.Ser46Cys					SEC23IP_uc010qtc.1_Missense_Mutation_p.L13V	p.S46C	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	1	209	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	46			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.137C>G	CCDS7618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.090|0.090	-1.168834|-1.168834	0.01660|0.01660	.|.	.|.	ENSG00000107651|ENSG00000107651	ENST00000543134|ENST00000369075	T|D	0.29655|0.97256	1.56|-4.31	6.04|6.04	4.2|4.2	0.49525|0.49525	.|.	.|0.689125	.|0.14100	.|N	.|0.341412	D|D	0.93543|0.93543	0.7939|0.7939	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B|B	0.14805|0.33448	0.011|0.412	B|B	0.15870|0.27262	0.014|0.078	D|D	0.87451|0.87451	0.2401|0.2401	9|10	0.16420|0.59425	T|D	0.52|0.04	-1.8052|-1.8052	10.9354|10.9354	0.47243|0.47243	0.0:0.8544:0.0:0.1456|0.0:0.8544:0.0:0.1456	.|.	13|46	F5H0L8|Q9Y6Y8	.|S23IP_HUMAN	V|C	13|46	ENSP00000438773:L13V|ENSP00000358071:S46C	ENSP00000438773:L13V|ENSP00000358071:S46C	L|S	+|+	1|2	0|0	SEC23IP|SEC23IP	121642421|121642421	0.989000|0.989000	0.36119|0.36119	0.016000|0.016000	0.15963|0.15963	0.093000|0.093000	0.18481|0.18481	4.181000|4.181000	0.58303|0.58303	0.889000|0.889000	0.36185|0.36185	0.563000|0.563000	0.77884|0.77884	CTC|TCT		0.622	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1				50	9	0	0	0	0.00361	0	50	9		
TACC2	10579	broad.mit.edu	37	10	123845062	123845062	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:123845062G>C	ENST00000369005.1	+	4	3387	c.3047G>C	c.(3046-3048)gGa>gCa	p.G1016A	TACC2_ENST00000515603.1_Missense_Mutation_p.G1016A|TACC2_ENST00000515273.1_Missense_Mutation_p.G1016A|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.G1016A|TACC2_ENST00000453444.2_Missense_Mutation_p.G1016A|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1016					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGCATCCAGGAGCTTCTGAA	0.557																																						uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3046-3048)GGA>GCA		transforming, acidic coiled-coil containing							32.0	34.0	33.0					10																	123845062		2202	4299	6501	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845062G>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3047G>C	10.37:g.123845062G>C	ENSP00000358001:p.Gly1016Ala					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.G1016A|TACC2_uc010qtv.1_Missense_Mutation_p.G1016A	p.G1016A	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	3407	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1016					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.3047G>C	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516597	0.44763	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.25085	2.02;1.82;1.85;2.02;1.82	5.44	2.34	0.29019	.	0.000000	0.36338	N	0.002655	T	0.22003	0.0530	L	0.32530	0.975	0.09310	N	1	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.55508	0.777;0.714;0.714	T	0.11842	-1.0571	10	0.08837	T	0.75	-9.2937	4.2309	0.10602	0.2457:0.0:0.5866:0.1677	.	1016;1016;1016	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	A	1016;1016;1016;1016;1016;1006	ENSP00000358001:G1016A;ENSP00000424467:G1016A;ENSP00000427618:G1016A;ENSP00000334280:G1016A;ENSP00000395048:G1016A	ENSP00000334280:G1016A	G	+	2	0	TACC2	123835052	0.023000	0.18921	0.033000	0.17914	0.104000	0.19210	0.393000	0.20817	1.311000	0.45024	0.549000	0.68633	GGA		0.557	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				16	10	0	0	0	0.007413	0	16	10		
MUC5B	727897	broad.mit.edu	37	11	1268537	1268537	+	Nonsense_Mutation	SNP	C	C	A	rs200237369	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:1268537C>A	ENST00000529681.1	+	31	10485	c.10427C>A	c.(10426-10428)tCg>tAg	p.S3476*	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Nonsense_Mutation_p.S3479*	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3476	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGGCCACCTCGGGCATCTTG	0.672																																						uc009ycr.1		NaN																	0					0						c.(12010-12012)TCG>TAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							60.0	86.0	77.0					11																	1268537		2127	4206	6333	SO:0001587	stop_gained	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268537C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10427C>A	11.37:g.1268537C>A	ENSP00000436812:p.Ser3476*					MUC5B_uc001ltb.2_Nonsense_Mutation_p.S3479*	p.S4004*	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	50	12137	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3476	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	ENST00000529681.1	37	c.12011C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	49	16.058099	0.99853	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	1.16	-2.33	0.06724	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.8726	0.09042	0.0:0.3952:0.3367:0.268	.	.	.	.	X	3476;3479;3448;3381	.	ENSP00000343037:S3448X	S	+	2	0	MUC5B	1225113	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.229000	0.09098	-2.489000	0.00518	-1.326000	0.01283	TCG		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093		24	130	1	0	2.87052e-16	0.005524	3.02731e-16	24	130		
TRPM5	29850	broad.mit.edu	37	11	2443523	2443523	+	Missense_Mutation	SNP	G	G	A	rs200361945		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:2443523G>A	ENST00000155858.6	-	2	154	c.146C>T	c.(145-147)cCg>cTg	p.P49L	TRPM5_ENST00000452833.1_Missense_Mutation_p.P49L|TRPM5_ENST00000528453.1_Missense_Mutation_p.P49L|TRPM5_ENST00000533060.1_Missense_Mutation_p.P49L	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGCACAGACGGGGCCACTCC	0.662																																					NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(145-147)CCG>CTG		transient receptor potential cation channel,			LEU/PRO	0,4398		0,0,2199	48.0	51.0	50.0		146	2.6	1.0	11		50	2,8596	2.2+/-6.3	0,2,4297	yes	missense	TRPM5	NM_014555.3	98	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	49/1166	2443523	2,12994	2199	4299	6498	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2443523G>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.146C>T	11.37:g.2443523G>A	ENSP00000155858:p.Pro49Leu					TRPM5_uc010qxl.1_Missense_Mutation_p.P49L|TRPM5_uc009ydn.2_Missense_Mutation_p.P49L	p.P49L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	155	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	49			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000155858.6	37	c.146C>T	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	g	15.54	2.863275	0.51482	0.0	2.33E-4	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	2.64	2.64	0.31445	.	0.000000	0.64402	U	0.000014	D	0.87148	0.6105	L	0.58428	1.81	0.52099	D	0.999948	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87073	0.2161	10	0.87932	D	0	-15.2711	8.9439	0.35747	0.0:0.0:1.0:0.0	.	49;49;49	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	L	41;49;49;49;49;49	ENSP00000434383:P41L;ENSP00000155858:P49L;ENSP00000387965:P49L;ENSP00000434121:P49L;ENSP00000436809:P49L	ENSP00000155858:P49L	P	-	2	0	TRPM5	2400099	1.000000	0.71417	0.985000	0.45067	0.063000	0.16089	2.906000	0.48735	1.810000	0.52873	0.586000	0.80456	CCG		0.662	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1		NM_014555		33	60	0	0	0	0.004289	0	33	60		
NAP1L4	4676	broad.mit.edu	37	11	2975840	2975840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:2975840C>A	ENST00000380542.4	-	12	1092	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	NAP1L4_ENST00000526115.1_Nonsense_Mutation_p.E318*	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	318					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TGTCCAATTTCAAAATCAGAG	0.448																																						uc001lxc.2		NaN																	0				ovary(1)	1						c.(952-954)GAA>TAA		nucleosome assembly protein 1-like 4							63.0	62.0	63.0					11																	2975840		1857	4099	5956	SO:0001587	stop_gained	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2975840C>A	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.952G>T	11.37:g.2975840C>A	ENSP00000369915:p.Glu318*					NAP1L4_uc001lxb.2_5'Flank|NAP1L4_uc009ydt.2_RNA|NAP1L4_uc010qxm.1_Nonsense_Mutation_p.E318*|NAP1L4_uc010qxn.1_Nonsense_Mutation_p.E318*	p.E318*	NM_005969	NP_005960	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	12	1093	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	318					B2R6J4|F5HFY4	Nonsense_Mutation	SNP	ENST00000380542.4	37	c.952G>T	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	C	37	6.429393	0.97559	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-15.3926	17.6942	0.88276	0.0:1.0:0.0:0.0	.	.	.	.	X	318	.	ENSP00000369915:E318X	E	-	1	0	NAP1L4	2932416	1.000000	0.71417	0.999000	0.59377	0.878000	0.50629	7.128000	0.77217	2.390000	0.81377	0.650000	0.86243	GAA		0.448	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3		NM_005969		32	37	1	0	7.11191e-15	0.002836	7.46899e-15	32	37		
ZNF195	7748	broad.mit.edu	37	11	3380678	3380678	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:3380678C>T	ENST00000399602.4	-	6	1686	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	ZNF195_ENST00000354599.6_Silent_p.K448K|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403																																						uc001lxt.2		NaN																	0					0						c.(1558-1560)AAG>AAA		zinc finger protein 195 isoform 1							168.0	171.0	170.0					11																	3380678		2064	4218	6282	SO:0001819	synonymous_variant	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380678C>T		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1560G>A	11.37:g.3380678C>T						uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Silent_p.K497K|ZNF195_uc001lxs.2_Silent_p.K448K|ZNF195_uc010qxr.1_Silent_p.K501K|ZNF195_uc009ydz.2_Silent_p.K475K|ZNF195_uc001lxu.2_Silent_p.K452K	p.K520K	NM_001130520	NP_001123992	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	6	1738	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	520					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1560G>A	CCDS44522.1																																																																																				0.403	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2				4	171	0	0	0	0.009096	0	4	171		
HPS5	11234	broad.mit.edu	37	11	18322409	18322409	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:18322409C>T	ENST00000349215.3	-	9	1228	c.951G>A	c.(949-951)caG>caA	p.Q317Q	HPS5_ENST00000531848.1_Silent_p.Q203Q|HPS5_ENST00000438420.2_Silent_p.Q203Q|HPS5_ENST00000396253.3_Silent_p.Q203Q	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	317					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTGAACATTCTGAGGAATGA	0.323									Hermansky-Pudlak syndrome																													uc001mod.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(949-951)CAG>CAA		Hermansky-Pudlak syndrome 5 isoform a							39.0	40.0	40.0					11																	18322409		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18322409C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.951G>A	11.37:g.18322409C>T						HPS5_uc001moe.1_Silent_p.Q203Q|HPS5_uc001mof.1_Silent_p.Q203Q	p.Q317Q	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			9	1229	-			317					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.951G>A	CCDS7836.1																																																																																				0.323	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1		NM_181507		20	19	0	0	0	0.003954	0	20	19		
ARHGAP1	392	broad.mit.edu	37	11	46700690	46700690	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:46700690G>A	ENST00000311956.4	-	13	1314	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	406	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGTGATGGCCGCATCCTTGGC	0.552																																						uc001ndd.2		NaN																	0				skin(1)	1						c.(1216-1218)GCG>GTG		Rho GTPase activating protein 1							190.0	160.0	170.0					11																	46700690		2201	4299	6500	SO:0001583	missense	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46700690G>A	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.1217C>T	11.37:g.46700690G>A	ENSP00000310491:p.Ala406Val						p.A406V	NM_004308	NP_004299	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	13	1286	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	406			Rho-GAP.		D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	c.1217C>T	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250567	0.39797	.	.	ENSG00000175220	ENST00000311956;ENST00000443332	T	0.43688	0.94	5.23	3.35	0.38373	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.340114	0.34291	N	0.004089	T	0.31071	0.0785	L	0.38175	1.15	0.46678	D	0.999156	B	0.13594	0.008	B	0.06405	0.002	T	0.09662	-1.0664	10	0.36615	T	0.2	.	10.4051	0.44252	0.2158:0.0:0.7842:0.0	.	406	Q07960	RHG01_HUMAN	V	406	ENSP00000310491:A406V	ENSP00000310491:A406V	A	-	2	0	ARHGAP1	46657266	0.986000	0.35501	0.893000	0.35052	0.851000	0.48451	1.905000	0.39878	1.219000	0.43474	0.555000	0.69702	GCG		0.552	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1		NM_004308		4	107	0	0	0	0.009096	0	4	107		
OR4X2	119764	broad.mit.edu	37	11	48267009	48267009	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:48267009C>T	ENST00000302329.3	+	1	402	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGTGGCCATCTGCAAGCCCC	0.512																																						uc001ngs.1		NaN																	0					0						c.(352-354)ATC>ATT		olfactory receptor, family 4, subfamily X,							149.0	129.0	136.0					11																	48267009		2201	4298	6499	SO:0001819	synonymous_variant	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267009C>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.354C>T	11.37:g.48267009C>T							p.I118I	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	354	+			118			Cytoplasmic (Potential).		B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	c.354C>T	CCDS31486.1																																																																																				0.512	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2		NM_001004727		44	47	0	0	0	0.011902	0	44	47		
VWCE	220001	broad.mit.edu	37	11	61039180	61039180	+	Silent	SNP	C	C	T	rs141642839		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:61039180C>T	ENST00000335613.5	-	14	2138	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	VWCE_ENST00000535710.1_Silent_p.S49S	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	584	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGTCACCAGGCGACCAGATCT	0.557																																						uc001nra.2		NaN																	0				ovary(1)	1						c.(1750-1752)TCG>TCA		von Willebrand factor C and EGF domains		C		1,4405	2.1+/-5.4	0,1,2202	116.0	85.0	96.0		1752	-1.2	1.0	11	dbSNP_134	96	0,8598		0,0,4299	no	coding-synonymous	VWCE	NM_152718.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		584/956	61039180	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61039180C>T	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1752G>A	11.37:g.61039180C>T						VWCE_uc001nrb.2_RNA	p.S584S	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			14	2031	-			584			VWFC 4.		A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.1752G>A	CCDS8002.1																																																																																				0.557	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1		NM_152718		6	40	0	0	0	0.001984	0	6	40		
GANAB	23193	broad.mit.edu	37	11	62397103	62397103	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:62397103G>C	ENST00000356638.3	-	15	1807	c.1791C>G	c.(1789-1791)ccC>ccG	p.P597P	GANAB_ENST00000540933.1_Silent_p.P500P|GANAB_ENST00000346178.4_Silent_p.P619P|GANAB_ENST00000534779.1_Silent_p.P505P	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	597					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CCAGGACAAAGGGGCGTTCCA	0.597																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1789-1791)CCC>CCG		neutral alpha-glucosidase AB isoform 2							37.0	37.0	37.0					11																	62397103		2202	4299	6501	SO:0001819	synonymous_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62397103G>C	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1791C>G	11.37:g.62397103G>C						GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Silent_p.P619P|GANAB_uc001nuc.2_Silent_p.P500P|GANAB_uc010rma.1_Silent_p.P505P|GANAB_uc010rmb.1_Silent_p.P483P	p.P597P	NM_198334	NP_938148	Q14697	GANAB_HUMAN			15	1824	-			597					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.1791C>G	CCDS8026.1																																																																																				0.597	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334		14	35	0	0	0	0.00499	0	14	35		
AP5B1	91056	broad.mit.edu	37	11	65547046	65547046	+	Silent	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:65547046T>C	ENST00000532090.2	-	2	1128	c.918A>G	c.(916-918)gcA>gcG	p.A306A		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	306	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GCTTGAAGAGTGCCGGTGGCT	0.642																																						uc001ofo.3		NaN																	0					0						c.(745-747)GCA>GCG		hypothetical protein LOC91056							10.0	14.0	13.0					11																	65547046		2048	4175	6223	SO:0001819	synonymous_variant	91056						protein binding	g.chr11:65547046T>C	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.918A>G	11.37:g.65547046T>C							p.A249A	NM_138368	NP_612377	Q2VPB7	YK046_HUMAN		READ - Rectum adenocarcinoma(159;0.167)	1	777	-			249			Leu-rich.		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	ENST00000532090.2	37	c.747A>G	CCDS58146.1																																																																																				0.642	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2		NM_138368		5	6	0	0	0	0.001168	0	5	6		
CCDC87	55231	broad.mit.edu	37	11	66360121	66360121	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:66360121C>T	ENST00000333861.3	-	1	433	c.366G>A	c.(364-366)ctG>ctA	p.L122L	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	122					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTCGCTGCTCAGCAGCACGT	0.627											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oiq.3		NaN																	0				ovary(1)|skin(1)	2						c.(364-366)CTG>CTA		coiled-coil domain containing 87							50.0	53.0	52.0					11																	66360121		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66360121C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.366G>A	11.37:g.66360121C>T			OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1091	CCS_uc001oir.2_5'Flank	p.L122L	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	434	-			122					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.366G>A	CCDS8145.1																																																																																				0.627	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1		NM_018219		48	57	0	0	0	0.00361	0	48	57		
LRP5	4041	broad.mit.edu	37	11	68171050	68171050	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:68171050G>C	ENST00000294304.7	+	8	1790	c.1684G>C	c.(1684-1686)Gac>Cac	p.D562H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	562	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTACTGGACTGACTGGCAGCG	0.597																																						uc001ont.2		NaN																	0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(1684-1686)GAC>CAC		low density lipoprotein receptor-related protein							94.0	79.0	84.0					11																	68171050		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68171050G>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1684G>C	11.37:g.68171050G>C	ENSP00000294304:p.Asp562His					LRP5_uc009ysg.2_5'UTR	p.D562H	NM_002335	NP_002326	O75197	LRP5_HUMAN			8	1759	+			562			YWTD 8.|Beta-propeller 2.|LDL-receptor class B 10.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1684G>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678335	0.88542	.	.	ENSG00000162337	ENST00000294304	D	0.92647	-3.08	4.13	4.13	0.48395	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.51477	U	0.000100	D	0.96796	0.8954	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97849	1.0273	10	0.87932	D	0	.	16.9721	0.86303	0.0:0.0:1.0:0.0	.	562	O75197	LRP5_HUMAN	H	562	ENSP00000294304:D562H	ENSP00000294304:D562H	D	+	1	0	LRP5	67927626	1.000000	0.71417	0.943000	0.38184	0.978000	0.69477	9.467000	0.97671	2.321000	0.78463	0.650000	0.86243	GAC		0.597	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1		NM_002335		35	61	0	0	0	0.005524	0	35	61		
MYO7A	4647	broad.mit.edu	37	11	76873903	76873903	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:76873903C>G	ENST00000409709.3	+	14	1831	c.1559C>G	c.(1558-1560)aCa>aGa	p.T520R	MYO7A_ENST00000409893.1_Missense_Mutation_p.T520R|MYO7A_ENST00000409619.2_Missense_Mutation_p.T509R|MYO7A_ENST00000458637.2_Missense_Mutation_p.T520R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	520	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCCAGGGCACAGACACCACC	0.587																																						uc001oyb.2		NaN																	0				ovary(3)|breast(1)	4						c.(1558-1560)ACA>AGA		myosin VIIA isoform 1							149.0	168.0	162.0					11																	76873903		2149	4235	6384	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873903C>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1559C>G	11.37:g.76873903C>G	ENSP00000386331:p.Thr520Arg					MYO7A_uc010rsl.1_Missense_Mutation_p.T520R|MYO7A_uc010rsm.1_Missense_Mutation_p.T509R|MYO7A_uc001oyc.2_Missense_Mutation_p.T520R	p.T520R	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			14	1831	+			520			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1559C>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687990	0.68271	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.02	5.02	0.67125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	H	0.94264	3.515	0.80722	D	1	D;D;D	0.67145	0.996;0.989;0.979	D;D;D	0.72625	0.978;0.97;0.933	D	0.92764	0.6226	10	0.87932	D	0	.	18.5109	0.90916	0.0:1.0:0.0:0.0	.	520;520;520	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	R	520;520;520;509;519;519;519	ENSP00000386331:T520R;ENSP00000386689:T520R;ENSP00000392185:T520R;ENSP00000386635:T509R	ENSP00000340325:T519R	T	+	2	0	MYO7A	76551551	1.000000	0.71417	0.955000	0.39395	0.585000	0.36419	5.529000	0.67135	2.607000	0.88179	0.491000	0.48974	ACA		0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1		NM_000260		70	73	0	0	0	0.00361	0	70	73		
FAT3	120114	broad.mit.edu	37	11	92616246	92616246	+	Silent	SNP	G	G	A	rs529698975		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:92616246G>A	ENST00000298047.6	+	23	12641	c.12624G>A	c.(12622-12624)ccG>ccA	p.P4208P	FAT3_ENST00000525166.1_Silent_p.P4058P|FAT3_ENST00000533797.1_Silent_p.P543P|FAT3_ENST00000409404.2_Silent_p.P4208P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4208					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGCATCCCGTTCCGGAACC	0.657										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(12622-12624)CCG>CCA		FAT tumor suppressor homolog 3							52.0	63.0	60.0					11																	92616246		1977	4145	6122	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616246G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12624G>A	11.37:g.92616246G>A		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.P648P	p.P4208P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12641	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4208			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.12624G>A																																																																																					0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		14	96	0	0	0	0.004007	0	14	96		
HYOU1	10525	broad.mit.edu	37	11	118919580	118919580	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:118919580C>T	ENST00000404233.3	-	18	2135	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	HYOU1_ENST00000529972.1_Missense_Mutation_p.E609K|HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Missense_Mutation_p.E609K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	671					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)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGCCCTGCCTCTGCCTTCTCA	0.612																																						uc001puu.2		NaN																	0					0						c.(2011-2013)GAG>AAG		hypoxia up-regulated 1 precursor							54.0	57.0	56.0					11																	118919580		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118919580C>T	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2011G>A	11.37:g.118919580C>T	ENSP00000384144:p.Glu671Lys					HYOU1_uc001put.2_Missense_Mutation_p.E636K|HYOU1_uc010ryu.1_Missense_Mutation_p.E629K|HYOU1_uc010ryv.1_Missense_Mutation_p.E560K|HYOU1_uc001pux.3_Missense_Mutation_p.E671K|HYOU1_uc010ryw.1_RNA	p.E671K	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	18	2204	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	671					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.2011G>A	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640310	0.29157	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01455	4.87;4.94;4.94	5.02	4.09	0.47781	.	0.422063	0.25388	N	0.031038	T	0.01124	0.0037	N	0.04508	-0.205	0.09310	N	0.999991	B;B;B;B	0.25169	0.119;0.042;0.002;0.002	B;B;B;B	0.26969	0.075;0.037;0.002;0.002	T	0.48725	-0.9010	10	0.09084	T	0.74	-17.9195	14.035	0.64640	0.0:0.8415:0.1585:0.0	.	662;653;671;671	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	K	671;662;609;520;609;652	ENSP00000384144:E671K;ENSP00000437313:E609K;ENSP00000433397:E609K	ENSP00000278752:E662K	E	-	1	0	HYOU1	118424790	0.979000	0.34478	0.018000	0.16275	0.916000	0.54674	2.601000	0.46249	1.303000	0.44873	0.561000	0.74099	GAG		0.612	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1		NM_006389		46	40	0	0	0	0.00361	0	46	40		
CCDC153	283152	broad.mit.edu	37	11	119061144	119061144	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:119061144G>C	ENST00000503566.2	-	6	497	c.498C>G	c.(496-498)ctC>ctG	p.L166L	CCDC153_ENST00000415318.1_Silent_p.L166L			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	166										lung(3)|stomach(1)	4						GCTTGGCCAAGAGCCTGTCCA	0.562																																						uc010rze.1		NaN																	0					0						c.(496-498)CTC>CTG		coiled-coil domain containing 153							95.0	82.0	87.0					11																	119061144		2200	4295	6495	SO:0001819	synonymous_variant	283152							g.chr11:119061144G>C		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.498C>G	11.37:g.119061144G>C							p.L166L	NM_001145018	NP_001138490	Q494R4	CC153_HUMAN			7	586	-			166						Silent	SNP	ENST00000503566.2	37	c.498C>G	CCDS44753.1																																																																																				0.562	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2		NM_001033658		74	56	0	0	0	0.00361	0	74	56		
TECTA	7007	broad.mit.edu	37	11	120989224	120989224	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:120989224G>C	ENST00000392793.1	+	7	1271	c.1000G>C	c.(1000-1002)Gac>Cac	p.D334H	TECTA_ENST00000264037.2_Missense_Mutation_p.D334H			O75443	TECTA_HUMAN	tectorin alpha	334	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCACACTTTTGACGGCTTCCT	0.557																																						uc010rzo.1		NaN																	0				breast(6)|ovary(2)|skin(2)	10						c.(1000-1002)GAC>CAC		tectorin alpha precursor							145.0	127.0	133.0					11																	120989224		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989224G>C	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1000G>C	11.37:g.120989224G>C	ENSP00000376543:p.Asp334His						p.D334H	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	6	1000	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	334			VWFD 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1000G>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774820	0.90108	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.78816	-1.21;-1.21	5.72	5.72	0.89469	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	D	0.92747	0.7694	H	0.96604	3.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94575	0.7774	10	0.87932	D	0	.	19.8885	0.96919	0.0:0.0:1.0:0.0	.	334	O75443	TECTA_HUMAN	H	334	ENSP00000376543:D334H;ENSP00000264037:D334H	ENSP00000264037:D334H	D	+	1	0	TECTA	120494434	1.000000	0.71417	0.811000	0.32455	0.992000	0.81027	9.869000	0.99810	2.700000	0.92200	0.563000	0.77884	GAC		0.557	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422		15	93	0	0	0	0.003163	0	15	93		
IGSF9B	22997	broad.mit.edu	37	11	133789947	133789947	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:133789947G>A	ENST00000321016.8	-	18	3903	c.3673C>T	c.(3673-3675)Cgc>Tgc	p.R1225C	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1225C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1225	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGCCCGGGCGAGGCCGGGCA	0.677																																						uc001qgx.3		NaN																	0					0						c.(3673-3675)CGC>TGC		immunoglobulin superfamily, member 9B							19.0	24.0	23.0					11																	133789947		1849	4054	5903	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133789947G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3673C>T	11.37:g.133789947G>A	ENSP00000317980:p.Arg1225Cys						p.R1225C	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3904	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1225			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3673C>T		.	.	.	.	.	.	.	.	.	.	G	17.39	3.377825	0.61735	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.76839	-0.75;-1.05	5.11	5.11	0.69529	.	0.000000	0.44483	D	0.000455	T	0.82042	0.4951	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.84850	0.0813	10	0.87932	D	0	.	18.1257	0.89585	0.0:0.0:1.0:0.0	.	1225	Q9UPX0	TUTLB_HUMAN	C	1225;1067	ENSP00000317980:R1225C;ENSP00000436552:R1067C	ENSP00000317980:R1225C	R	-	1	0	IGSF9B	133295157	1.000000	0.71417	0.634000	0.29324	0.415000	0.31203	6.128000	0.71650	2.381000	0.81170	0.555000	0.69702	CGC		0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_290502		27	18	0	0	0	0.009535	0	27	18		
CHD4	1108	broad.mit.edu	37	12	6707456	6707456	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:6707456C>T	ENST00000357008.2	-	11	1781	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	CHD4_ENST00000309577.6_Missense_Mutation_p.E540K|CHD4_ENST00000544040.1_Missense_Mutation_p.E533K|CHD4_ENST00000544484.1_Missense_Mutation_p.E537K	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	540	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						AACTGCCGCTCTGGCCGCCCC	0.572																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	0				central_nervous_system(2)	2						c.(1618-1620)GAG>AAG		chromodomain helicase DNA binding protein 4							115.0	122.0	119.0					12																	6707456		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6707456C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1618G>A	12.37:g.6707456C>T	ENSP00000349508:p.Glu540Lys					CHD4_uc001qpn.2_Missense_Mutation_p.E533K|CHD4_uc001qpp.2_Missense_Mutation_p.E537K	p.E540K	NM_001273	NP_001264	Q14839	CHD4_HUMAN			11	1782	-			540			Chromo 1.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.1618G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477549	0.84640	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.76	3.76	0.43208	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.056789	0.64402	D	0.000002	T	0.62768	0.2455	M	0.82323	2.585	0.58432	D	0.999999	P;P;P	0.52316	0.952;0.908;0.728	P;P;B	0.58620	0.6;0.842;0.156	T	0.69304	-0.5180	10	0.48119	T	0.1	2.6366	16.1433	0.81544	0.0:1.0:0.0:0.0	.	540;540;533	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	K	537;533;540;540;514	ENSP00000440392:E537K;ENSP00000440542:E533K;ENSP00000312419:E540K;ENSP00000349508:E540K	ENSP00000312419:E540K	E	-	1	0	CHD4	6577717	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.625000	0.83145	2.096000	0.63516	0.313000	0.20887	GAG		0.572	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		123	115	0	0	0	0.00361	0	123	115		
KLRC4	8302	broad.mit.edu	37	12	10560257	10560257	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:10560257G>C	ENST00000309384.1	-	4	653	c.472C>G	c.(472-474)Cta>Gta	p.L158V	KLRC4-KLRK1_ENST00000539300.1_Missense_Mutation_p.S149C	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	158					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						ATTATCTATAGAAAGCAGATC	0.333																																						uc001qye.2		NaN																	0					0						c.(472-474)CTA>GTA		killer cell lectin-like receptor subfamily C,							147.0	151.0	150.0					12																	10560257		2203	4300	6503	SO:0001583	missense	8302				cellular defense response	integral to membrane	binding|receptor activity	g.chr12:10560257G>C	U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"""Killer cell lectin-like receptors"""	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.472C>G	12.37:g.10560257G>C	ENSP00000310216:p.Leu158Val					KLRK1_uc001qyc.2_5'UTR|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_5'UTR	p.L158V	NM_013431	NP_038459	O43908	NKG2F_HUMAN			4	654	-			158			Extracellular (Potential).		O60851	Missense_Mutation	SNP	ENST00000309384.1	37	c.472C>G	CCDS8624.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052183	0.36181	.	.	ENSG00000183542	ENST00000309384	T	0.03745	3.82	4.1	1.58	0.23477	.	1.441500	0.04601	N	0.398503	T	0.14227	0.0344	L	0.61218	1.895	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.11324	-1.0592	10	0.87932	D	0	.	4.7246	0.12935	0.1813:0.0:0.2089:0.6098	.	158	O43908	NKG2F_HUMAN	V	158	ENSP00000310216:L158V	ENSP00000310216:L158V	L	-	1	2	KLRC4	10451524	0.000000	0.05858	0.075000	0.20258	0.053000	0.15095	-0.023000	0.12456	0.180000	0.19960	-0.485000	0.04761	CTA		0.333	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400108.1		NM_013431		61	180	0	0	0	0.00361	0	61	180		
ANO6	196527	broad.mit.edu	37	12	45823019	45823019	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:45823019G>C	ENST00000320560.8	+	20	2860	c.2658G>C	c.(2656-2658)atG>atC	p.M886I	ANO6_ENST00000435642.1_Intron|ANO6_ENST00000423947.3_Missense_Mutation_p.M907I|ANO6_ENST00000425752.2_Intron|ANO6_ENST00000441606.2_Missense_Mutation_p.M868I	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	886					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCAAAGATATGACGAAAAATA	0.388																																						uc001roo.2		NaN																	0				ovary(1)|kidney(1)	2						c.(2656-2658)ATG>ATC		anoctamin 6 isoform a							53.0	52.0	52.0					12																	45823019		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45823019G>C	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2658G>C	12.37:g.45823019G>C	ENSP00000320087:p.Met886Ile					ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Missense_Mutation_p.M907I|ANO6_uc010slg.1_Missense_Mutation_p.M868I	p.M886I	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			20	2993	+			886			Cytoplasmic (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2658G>C	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119000	0.37436	.	.	ENSG00000177119	ENST00000423947;ENST00000320560;ENST00000441606	T;T;T	0.67523	-0.27;-0.27;-0.27	5.23	2.3	0.28687	.	0.488835	0.23539	N	0.047100	T	0.42359	0.1199	N	0.08118	0	0.80722	D	1	B;B;B	0.12013	0.0;0.0;0.005	B;B;B	0.12156	0.001;0.001;0.007	T	0.20107	-1.0285	10	0.56958	D	0.05	.	7.1061	0.25364	0.0685:0.1263:0.6739:0.1313	.	868;907;886	E9PB30;B9EGG0;Q4KMQ2	.;.;ANO6_HUMAN	I	907;886;868	ENSP00000409126:M907I;ENSP00000320087:M886I;ENSP00000413137:M868I	ENSP00000320087:M886I	M	+	3	0	ANO6	44109286	1.000000	0.71417	0.838000	0.33150	0.813000	0.45954	0.695000	0.25527	0.387000	0.25024	-0.182000	0.12963	ATG		0.388	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1		XM_113743		13	36	0	0	0	0.004007	0	13	36		
ANKRD52	283373	broad.mit.edu	37	12	56641847	56641847	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:56641847G>C	ENST00000267116.7	-	18	2059	c.1938C>G	c.(1936-1938)atC>atG	p.I646M		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	646										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TGCGCTCCTTGATGAGGGCAG	0.637																																						uc001skm.3		NaN																	0				ovary(2)	2						c.(1936-1938)ATC>ATG		ankyrin repeat domain 52							29.0	35.0	33.0					12																	56641847		2057	4197	6254	SO:0001583	missense	283373						protein binding	g.chr12:56641847G>C	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1938C>G	12.37:g.56641847G>C	ENSP00000267116:p.Ile646Met						p.I646M	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			18	2028	-			646			ANK 18.		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.1938C>G	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927200	0.52759	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.64618	-0.11	4.42	4.42	0.53409	Ankyrin repeat-containing domain (2);	0.136330	0.51477	D	0.000092	T	0.46541	0.1398	N	0.20401	0.57	0.41980	D	0.99079	P	0.38535	0.635	B	0.41619	0.361	T	0.43278	-0.9401	10	0.36615	T	0.2	.	7.9427	0.29967	0.0:0.1731:0.6481:0.1787	.	646	Q8NB46	ANR52_HUMAN	M	646	ENSP00000267116:I646M	ENSP00000267116:I646M	I	-	3	3	ANKRD52	54928114	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.726000	0.25984	2.474000	0.83562	0.467000	0.42956	ATC		0.637	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1		NM_173595		10	15	0	0	0	0.008291	0	10	15		
GNS	2799	broad.mit.edu	37	12	65110565	65110565	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:65110565G>A	ENST00000258145.3	-	14	1785	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	GNS_ENST00000418919.2_Missense_Mutation_p.R483C|GNS_ENST00000543646.1_Missense_Mutation_p.R571C|GNS_ENST00000542058.1_Missense_Mutation_p.R519C	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	539					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACACTGCCGCGATTGCTGAAC	0.473																																						uc001ssg.3		NaN																	0				central_nervous_system(1)	1						c.(1615-1617)CGC>TGC		glucosamine (N-acetyl)-6-sulfatase precursor							95.0	83.0	87.0					12																	65110565		2203	4300	6503	SO:0001583	missense	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65110565G>A		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1615C>T	12.37:g.65110565G>A	ENSP00000258145:p.Arg539Cys					GNS_uc001ssf.2_Missense_Mutation_p.R483C|GNS_uc010ssq.1_Missense_Mutation_p.R571C|GNS_uc010ssr.1_Missense_Mutation_p.R519C	p.R539C	NM_002076	NP_002067	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	14	1785	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		539					B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	c.1615C>T	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610089	0.28712	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.31	4.4	0.53042	.	0.899364	0.09943	N	0.735687	T	0.42921	0.1224	N	0.08118	0	0.18873	N	0.999985	B;P;B;B	0.50443	0.431;0.935;0.431;0.431	B;B;B;B	0.40782	0.083;0.34;0.083;0.057	T	0.16719	-1.0393	9	.	.	.	-6.1081	13.2933	0.60282	0.0781:0.0:0.9219:0.0	.	519;571;539;483	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	C	483;539;571;519;456	ENSP00000413130:R483C;ENSP00000258145:R539C;ENSP00000438497:R571C;ENSP00000444819:R519C	.	R	-	1	0	GNS	63396832	0.878000	0.30173	0.153000	0.22517	0.045000	0.14185	2.786000	0.47790	2.633000	0.89246	0.555000	0.69702	CGC		0.473	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2				15	53	0	0	0	0.010504	0	15	53		
TMTC2	160335	broad.mit.edu	37	12	83081401	83081401	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:83081401C>T	ENST00000321196.3	+	1	743	c.36C>T	c.(34-36)ctC>ctT	p.L12L	TMTC2_ENST00000548305.1_Silent_p.L12L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	12					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCTGGGGCTCGCCTTGTATC	0.627											OREG0022010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001szt.2		NaN																	0				ovary(2)	2						c.(34-36)CTC>CTT		transmembrane and tetratricopeptide repeat							90.0	74.0	80.0					12																	83081401		2203	4298	6501	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83081401C>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.36C>T	12.37:g.83081401C>T			OREG0022010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1218	TMTC2_uc001szr.1_Silent_p.L12L|TMTC2_uc001szs.1_Silent_p.L12L|TMTC2_uc010suk.1_5'UTR	p.L12L	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			1	468	+			12					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.36C>T	CCDS9025.1																																																																																				0.627	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1		NM_152588		11	25	0	0	0	0.001368	0	11	25		
OAS2	4939	broad.mit.edu	37	12	113440781	113440781	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:113440781C>A	ENST00000342315.4	+	6	1267	c.1053C>A	c.(1051-1053)ttC>ttA	p.F351L	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.F351L	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	351	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGATAAGTTCATCAAGGAGT	0.507																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2		NaN																	0				ovary(1)	1						c.(1051-1053)TTC>TTA		2'-5'-oligoadenylate synthetase 2 isoform 1							240.0	227.0	231.0					12																	113440781		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113440781C>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1053C>A	12.37:g.113440781C>A	ENSP00000342278:p.Phe351Leu					OAS2_uc001tui.1_Missense_Mutation_p.F351L	p.F351L	NM_016817	NP_058197	P29728	OAS2_HUMAN			6	1193	+			351			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.1053C>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	14.42	2.529515	0.44969	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.09538	2.97;2.97	3.8	2.9	0.33743	.	0.295108	0.24502	N	0.037969	T	0.32010	0.0815	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.985;0.997	T	0.04229	-1.0967	10	0.87932	D	0	-8.0963	7.4659	0.27322	0.0:0.8778:0.0:0.1222	.	351;351	P29728;P29728-2	OAS2_HUMAN;.	L	351	ENSP00000342278:F351L;ENSP00000376362:F351L	ENSP00000342278:F351L	F	+	3	2	OAS2	111925164	1.000000	0.71417	0.757000	0.31301	0.110000	0.19582	0.776000	0.26704	0.918000	0.36919	0.655000	0.94253	TTC		0.507	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1				169	189	1	0	2.37301e-105	0.00361	2.63551e-105	169	189		
WSB2	55884	broad.mit.edu	37	12	118480669	118480669	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:118480669C>T	ENST00000315436.3	-	4	677	c.536G>A	c.(535-537)cGc>cAc	p.R179H	WSB2_ENST00000544233.1_Intron|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.R181H|WSB2_ENST00000441406.2_Missense_Mutation_p.R196H|WSB2_ENST00000542304.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	179					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCCAGATGCGAAGAGTCTT	0.458																																						uc001twr.2		NaN																	0				ovary(1)	1						c.(535-537)CGC>CAC		WD SOCS-box protein 2							147.0	149.0	148.0					12																	118480669		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118480669C>T	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.536G>A	12.37:g.118480669C>T	ENSP00000319474:p.Arg179His					WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Missense_Mutation_p.R179H	p.R179H	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN			4	634	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		179			WD 2.		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.536G>A	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	C	36	5.873200	0.97049	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.096199	0.64402	D	0.000001	D	0.82527	0.5056	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83726	0.0195	10	0.87932	D	0	-27.5092	18.7952	0.91991	0.0:1.0:0.0:0.0	.	179	Q9NYS7	WSB2_HUMAN	H	179;196;181;181	ENSP00000319474:R179H;ENSP00000409131:R196H;ENSP00000439450:R181H;ENSP00000440386:R181H	ENSP00000319474:R179H	R	-	2	0	WSB2	116965052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.762000	0.85270	2.727000	0.93392	0.644000	0.83932	CGC		0.458	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1		NM_018639		39	146	0	0	0	0.009718	0	39	146		
GALNT9	50614	broad.mit.edu	37	12	132685671	132685671	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:132685671C>G	ENST00000328957.8	-	8	1398	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	GALNT9_ENST00000535228.1_Missense_Mutation_p.E218Q|GALNT9_ENST00000397325.2_Missense_Mutation_p.E101Q|GALNT9_ENST00000541995.1_Missense_Mutation_p.E101Q	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	467	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGTGCTACCTCTCCGTACGTG	0.607																																					Colon(186;2147 2752 13553 41466)	uc001ukc.3		NaN																	0					0						c.(1399-1401)GAG>CAG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							65.0	82.0	76.0					12																	132685671		2143	4239	6382	SO:0001583	missense	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132685671C>G	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1399G>C	12.37:g.132685671C>G	ENSP00000329846:p.Glu467Gln					GALNT9_uc009zyr.2_Missense_Mutation_p.E241Q|GALNT9_uc001ukb.2_Missense_Mutation_p.E324Q|GALNT9_uc001uka.2_Missense_Mutation_p.E101Q	p.E467Q	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	8	1515	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	467			Ricin B-type lectin.|Lumenal (Potential).		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37	c.1399G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.94|18.94	3.729834|3.729834	0.69074|0.69074	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995|ENST00000411988	T;T;T;T|.	0.68903|.	-0.36;-0.36;-0.36;-0.36|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.100887|.	0.64402|.	D|.	0.000003|.	T|T	0.68357|0.68357	0.2992|0.2992	L|L	0.50919|0.50919	1.6|1.6	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.80764|.	0.993;0.994;0.989|.	T|T	0.67292|0.67292	-0.5707|-0.5707	10|5	0.38643|.	T|.	0.18|.	.|.	16.9295|16.9295	0.86186|0.86186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	218;467;324|.	B3KNR7;Q9HCQ5;B3KP58|.	.;GALT9_HUMAN;.|.	Q|T	101;467;218;101|239	ENSP00000380488:E101Q;ENSP00000329846:E467Q;ENSP00000439745:E218Q;ENSP00000440544:E101Q|.	ENSP00000329846:E467Q|.	E|R	-|-	1|2	0|0	GALNT9|GALNT9	131251624|131251624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	7.571000|7.571000	0.82399|0.82399	1.967000|1.967000	0.57214|0.57214	0.462000|0.462000	0.41574|0.41574	GAG|AGA		0.607	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1		NM_001122636		6	21	0	0	0	0.004482	0	6	21		
FRY	10129	broad.mit.edu	37	13	32821530	32821530	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr13:32821530C>T	ENST00000380250.3	+	48	7395	c.6899C>T	c.(6898-6900)cCt>cTt	p.P2300L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2300						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTTGTTTTACCTTCATACCAG	0.433																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(6898-6900)CCT>CTT		furry homolog							133.0	128.0	130.0					13																	32821530		1858	4107	5965	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32821530C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6899C>T	13.37:g.32821530C>T	ENSP00000369600:p.Pro2300Leu					FRY_uc010tdw.1_RNA	p.P2300L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	48	7395	+		Lung SC(185;0.0271)	2300					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6899C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496781	0.64186	.	.	ENSG00000073910	ENST00000380250	T	0.36157	1.27	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66842	-0.5821	10	0.72032	D	0.01	.	18.6524	0.91435	0.0:1.0:0.0:0.0	.	2300	Q5TBA9	FRY_HUMAN	L	2300	ENSP00000369600:P2300L	ENSP00000369600:P2300L	P	+	2	0	FRY	31719530	1.000000	0.71417	0.989000	0.46669	0.325000	0.28411	7.280000	0.78610	2.398000	0.81561	0.655000	0.94253	CCT		0.433	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		67	88	0	0	0	0.00361	0	67	88		
FREM2	341640	broad.mit.edu	37	13	39262725	39262725	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr13:39262725T>A	ENST00000280481.7	+	1	1460	c.1244T>A	c.(1243-1245)gTg>gAg	p.V415E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	415					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTGGAGGTAGTGGATCTAGAA	0.532																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(1243-1245)GTG>GAG		FRAS1-related extracellular matrix protein 2							74.0	81.0	79.0					13																	39262725		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262725T>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1244T>A	13.37:g.39262725T>A	ENSP00000280481:p.Val415Glu						p.V415E	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1553	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	415			CSPG 1.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1244T>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891311	0.72524	.	.	ENSG00000150893	ENST00000280481	T	0.21361	2.01	5.94	5.94	0.96194	.	0.059750	0.64402	D	0.000003	T	0.23289	0.0563	L	0.52905	1.665	0.80722	D	1	B	0.32731	0.382	B	0.31614	0.133	T	0.02075	-1.1218	10	0.28530	T	0.3	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	415	Q5SZK8	FREM2_HUMAN	E	415	ENSP00000280481:V415E	ENSP00000280481:V415E	V	+	2	0	FREM2	38160725	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	8.001000	0.88508	2.279000	0.76181	0.459000	0.35465	GTG		0.532	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		18	55	0	0	0	0.007413	0	18	55		
OR4K14	122740	broad.mit.edu	37	14	20482654	20482654	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:20482654G>T	ENST00000305045.2	-	1	698	c.699C>A	c.(697-699)agC>agA	p.S233R		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTTGGATGTGCTACCGGCAG	0.502																																						uc010tky.1		NaN																	0				skin(2)|large_intestine(1)	3						c.(697-699)AGC>AGA		olfactory receptor, family 4, subfamily K,							104.0	83.0	90.0					14																	20482654		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482654G>T		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.699C>A	14.37:g.20482654G>T	ENSP00000305011:p.Ser233Arg						p.S233R	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	699	-	all_cancers(95;0.00108)		233			Cytoplasmic (Potential).		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.699C>A	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	2.456	-0.325214	0.05350	.	.	ENSG00000169484	ENST00000305045	T	0.00091	8.74	4.04	-8.09	0.01090	GPCR, rhodopsin-like superfamily (1);	0.342579	0.20859	N	0.084393	T	0.00073	0.0002	N	0.25201	0.72	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.50988	-0.8762	10	0.59425	D	0.04	.	1.4858	0.02447	0.268:0.3714:0.1075:0.253	.	233	Q8NGD5	OR4KE_HUMAN	R	233	ENSP00000305011:S233R	ENSP00000305011:S233R	S	-	3	2	OR4K14	19552494	0.000000	0.05858	0.001000	0.08648	0.077000	0.17291	-1.437000	0.02419	-2.342000	0.00624	0.505000	0.49811	AGC		0.502	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1				8	15	1	0	0.00307968	0.00308	0.00310442	8	15		
SLC7A8	23428	broad.mit.edu	37	14	23596404	23596404	+	Silent	SNP	C	C	T	rs563944466		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:23596404C>T	ENST00000316902.7	-	11	2315	c.1590G>A	c.(1588-1590)gcG>gcA	p.A530A	SLC7A8_ENST00000469263.1_3'UTR|SLC7A8_ENST00000453702.1_Silent_p.A327A|SLC7A8_ENST00000422941.2_Silent_p.A306A|SLC7A8_ENST00000529705.2_Silent_p.A425A	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	530					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGGGCTGCCCCGCCACGTCCT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18159	0.001		0.0	False		,,,				2504	0.0					uc001wiz.2		NaN																	0				ovary(1)	1						c.(1588-1590)GCG>GCA		solute carrier family 7 (cationic amino acid	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						177.0	140.0	152.0					14																	23596404		2203	4300	6503	SO:0001819	synonymous_variant	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23596404C>T	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1590G>A	14.37:g.23596404C>T						SLC7A8_uc001wiw.2_Silent_p.A147A|SLC7A8_uc001wix.2_Silent_p.A327A|SLC7A8_uc010tnk.1_Silent_p.A306A|SLC7A8_uc010tnl.1_Silent_p.A425A|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_3'UTR	p.A530A	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	11	2316	-	all_cancers(95;4.6e-05)		530					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000316902.7	37	c.1590G>A	CCDS9590.1																																																																																				0.617	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3				27	74	0	0	0	0.003271	0	27	74		
CLEC14A	161198	broad.mit.edu	37	14	38724762	38724762	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:38724762C>T	ENST00000342213.2	-	1	812	c.466G>A	c.(466-468)Ggc>Agc	p.G156S		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	156	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCCTTCCAGCCTGCGGGCTCG	0.677																																						uc001wum.1		NaN																	0				ovary(3)|skin(1)	4						c.(466-468)GGC>AGC		C-type lectin domain family 14, member A							38.0	35.0	36.0					14																	38724762		2201	4293	6494	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724762C>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.466G>A	14.37:g.38724762C>T	ENSP00000353013:p.Gly156Ser						p.G156S	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	813	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		156			Extracellular (Potential).|C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.466G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805885	0.70682	.	.	ENSG00000176435	ENST00000342213	T	0.54279	0.58	3.71	2.8	0.32819	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.195459	0.32301	N	0.006299	T	0.52565	0.1742	N	0.19112	0.55	0.36409	D	0.863635	D	0.89917	1.0	D	0.74674	0.984	T	0.56025	-0.8047	10	0.27785	T	0.31	-18.0386	10.9387	0.47260	0.0:0.8087:0.1913:0.0	.	156	Q86T13	CLC14_HUMAN	S	156	ENSP00000353013:G156S	ENSP00000353013:G156S	G	-	1	0	CLEC14A	37794513	0.994000	0.37717	0.981000	0.43875	0.968000	0.65278	4.172000	0.58243	1.121000	0.41925	0.591000	0.81541	GGC		0.677	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1		NM_175060		30	32	0	0	0	0.003755	0	30	32		
DAAM1	23002	broad.mit.edu	37	14	59820639	59820639	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:59820639G>C	ENST00000395125.1	+	19	2366	c.2343G>C	c.(2341-2343)aaG>aaC	p.K781N	DAAM1_ENST00000360909.3_Missense_Mutation_p.K771N|DAAM1_ENST00000351081.1_Missense_Mutation_p.K781N|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	781	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACTTCAAAAAGAAGTTTGCAG	0.348																																						uc001xdz.1		NaN																	0				ovary(1)	1						c.(2341-2343)AAG>AAC		dishevelled-associated activator of							103.0	92.0	95.0					14																	59820639		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59820639G>C	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2343G>C	14.37:g.59820639G>C	ENSP00000378557:p.Lys781Asn					DAAM1_uc001xea.1_Missense_Mutation_p.K771N|DAAM1_uc001xec.1_5'Flank	p.K781N	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	20	2468	+			781			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2343G>C	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.577836	0.86645	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.17528	2.27;2.27;2.27	6.03	5.14	0.70334	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.44159	-0.9346	10	0.16420	T	0.52	.	15.2963	0.73910	0.0667:0.0:0.9333:0.0	.	771;781	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	N	771;781;781;781	ENSP00000354162:K771N;ENSP00000247170:K781N;ENSP00000378557:K781N	ENSP00000247170:K781N	K	+	3	2	DAAM1	58890392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.866000	0.99616	1.577000	0.49804	0.645000	0.84053	AAG		0.348	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2		NM_014992		11	47	0	0	0	0.00245	0	11	47		
VTI1B	10490	broad.mit.edu	37	14	68120200	68120200	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:68120200C>T	ENST00000554659.1	-	5	897	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	186					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		CTCAAGTTTTCACTTGTGTTT	0.333																																						uc001xjt.2		NaN																	0					0						c.(556-558)GAA>AAA		vesicle transport through interaction with							73.0	71.0	72.0					14																	68120200		2203	4299	6502	SO:0001583	missense	10490				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane		g.chr14:68120200C>T	AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"""vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"""			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.556G>A	14.37:g.68120200C>T	ENSP00000450731:p.Glu186Lys					VTI1B_uc010aqp.2_Missense_Mutation_p.E125K|VTI1B_uc001xju.2_Missense_Mutation_p.E145K	p.E186K	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN		all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)	5	952	-			186			Potential.|Cytoplasmic (Potential).		O43547|Q96J28	Missense_Mutation	SNP	ENST00000554659.1	37	c.556G>A	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037333	0.75617	.	.	ENSG00000100568	ENST00000554659	T	0.76060	-0.99	5.14	5.14	0.70334	Target SNARE coiled-coil domain (1);	0.049531	0.85682	D	0.000000	T	0.79684	0.4488	M	0.72894	2.215	0.80722	D	1	P;P	0.44380	0.834;0.834	P;P	0.48189	0.57;0.57	T	0.77236	-0.2662	10	0.28530	T	0.3	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	186;186	A8K6M4;Q9UEU0	.;VTI1B_HUMAN	K	186	ENSP00000450731:E186K	ENSP00000216456:E186K	E	-	1	0	VTI1B	67189953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.358000	0.66064	2.677000	0.91161	0.655000	0.94253	GAA		0.333	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2				12	46	0	0	0	0.00245	0	12	46		
SIPA1L1	26037	broad.mit.edu	37	14	72196849	72196849	+	Silent	SNP	G	G	A	rs141905323		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:72196849G>A	ENST00000555818.1	+	18	5103	c.4755G>A	c.(4753-4755)tcG>tcA	p.S1585S	SIPA1L1_ENST00000537413.1_Silent_p.S1039S|SIPA1L1_ENST00000381232.3_Silent_p.S1564S|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Silent_p.S1564S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1585					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAACACTGTCGGACGAGAGCA	0.557																																						uc001xms.2		NaN																	0				ovary(3)|breast(1)	4						c.(4753-4755)TCG>TCA		signal-induced proliferation-associated 1 like		G		0,4406		0,0,2203	95.0	83.0	87.0		4755	-6.4	0.8	14	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SIPA1L1	NM_015556.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1585/1805	72196849	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72196849G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4755G>A	14.37:g.72196849G>A						SIPA1L1_uc001xmt.2_Silent_p.S1564S|SIPA1L1_uc001xmu.2_Silent_p.S1564S|SIPA1L1_uc001xmv.2_Silent_p.S1585S|SIPA1L1_uc010ttm.1_Silent_p.S1039S|SIPA1L1_uc001xmw.2_Silent_p.S350S	p.S1585S	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	18	5103	+			1585					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.4755G>A	CCDS9807.1																																																																																				0.557	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1		NM_015556		6	88	0	0	0	0.001984	0	6	88		
BTBD7	55727	broad.mit.edu	37	14	93714878	93714878	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:93714878G>C	ENST00000334746.5	-	9	2372	c.2065C>G	c.(2065-2067)Cag>Gag	p.Q689E	BTBD7_ENST00000554565.1_Missense_Mutation_p.Q338E|BTBD7_ENST00000393170.2_Missense_Mutation_p.Q263E	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	689					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTCGAATCTGAATTTCATAG	0.517																																						uc001ybo.2		NaN																	0				pancreas(1)	1						c.(2065-2067)CAG>GAG		BTB (POZ) domain containing 7 isoform 1							84.0	78.0	80.0					14																	93714878		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93714878G>C	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2065C>G	14.37:g.93714878G>C	ENSP00000335615:p.Gln689Glu					BTBD7_uc010aur.2_Missense_Mutation_p.Q214E|BTBD7_uc010two.1_Missense_Mutation_p.Q509E|BTBD7_uc001ybp.2_Missense_Mutation_p.Q338E	p.Q689E	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	9	2391	-		all_cancers(154;0.08)	689					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.2065C>G	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052947	0.75960	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.50548	1.08;0.74	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	L	0.27053	0.805	0.80722	D	1	D;D;D	0.61697	0.99;0.99;0.969	P;D;D	0.72982	0.848;0.979;0.93	T	0.61749	-0.6999	10	0.72032	D	0.01	.	20.0655	0.97703	0.0:0.0:1.0:0.0	.	263;338;689	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	E	689;338;304;263	ENSP00000335615:Q689E;ENSP00000451010:Q338E	ENSP00000335615:Q689E	Q	-	1	0	BTBD7	92784631	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.476000	0.97823	2.753000	0.94483	0.563000	0.77884	CAG		0.517	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1		NM_001002860		29	32	0	0	0	0.00623	0	29	32		
DICER1	23405	broad.mit.edu	37	14	95562743	95562743	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:95562743G>C	ENST00000526495.1	-	25	4805	c.4514C>G	c.(4513-4515)tCt>tGt	p.S1505C	DICER1_ENST00000556045.1_Missense_Mutation_p.S403C|DICER1_ENST00000343455.3_Missense_Mutation_p.S1505C|DICER1_ENST00000393063.1_Missense_Mutation_p.S1505C|DICER1_ENST00000527414.1_Missense_Mutation_p.S1505C|DICER1_ENST00000541352.1_Missense_Mutation_p.S1505C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1505					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCATCCCAAGAGCTGTAGTC	0.408			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NaN	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(4513-4515)TCT>TGT		dicer1							81.0	79.0	79.0					14																	95562743		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95562743G>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4514C>G	14.37:g.95562743G>C	ENSP00000437256:p.Ser1505Cys					DICER1_uc010avh.1_Missense_Mutation_p.S403C|DICER1_uc001ydv.2_Missense_Mutation_p.S1495C|DICER1_uc001ydx.2_Missense_Mutation_p.S1505C|DICER1_uc001ydy.1_Missense_Mutation_p.S357C	p.S1505C	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	24	4696	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1505					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.4514C>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158302	0.78114	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.89875	0.13;0.13;0.13;0.13;-2.58;0.43	5.74	5.74	0.90152	Ribonuclease III (3);	0.159824	0.56097	D	0.000021	D	0.91680	0.7370	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.85130	0.997;0.977;0.89	D	0.91114	0.4924	10	0.46703	T	0.11	-18.6062	20.2825	0.98528	0.0:0.0:1.0:0.0	.	403;1505;1505	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	C	1505;1505;1505;1505;403;1505	ENSP00000343745:S1505C;ENSP00000437256:S1505C;ENSP00000376783:S1505C;ENSP00000435681:S1505C;ENSP00000451041:S403C;ENSP00000444719:S1505C	ENSP00000343745:S1505C	S	-	2	0	DICER1	94632496	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.378000	0.97191	2.873000	0.98535	0.561000	0.74099	TCT		0.408	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1				24	55	0	0	0	0.00333	0	24	55		
APBA2	321	broad.mit.edu	37	15	29346371	29346371	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:29346371A>G	ENST00000558402.1	+	5	883	c.284A>G	c.(283-285)gAg>gGg	p.E95G	APBA2_ENST00000411764.1_Missense_Mutation_p.E95G|APBA2_ENST00000561069.1_Missense_Mutation_p.E95G|APBA2_ENST00000558259.1_Missense_Mutation_p.E95G|APBA2_ENST00000558330.1_Missense_Mutation_p.E95G			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	95	Poly-Glu.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.E95G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGGAGGAGGAGGGCATCACC	0.607																																						uc001zck.2		NaN																	1	Substitution - Missense(1)		kidney(1)		0						c.(283-285)GAG>GGG		amyloid beta A4 precursor protein-binding,							151.0	134.0	139.0					15																	29346371		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346371A>G	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.284A>G	15.37:g.29346371A>G	ENSP00000453293:p.Glu95Gly					APBA2_uc010azj.2_Missense_Mutation_p.E95G|APBA2_uc010uat.1_Missense_Mutation_p.E95G|APBA2_uc001zcl.2_Missense_Mutation_p.E95G|APBA2_uc010uas.1_Missense_Mutation_p.E95G	p.E95G	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	491	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	95			Poly-Glu.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.284A>G	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204411	0.79127	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.51071	0.72	5.25	4.13	0.48395	.	0.056519	0.64402	N	0.000003	T	0.64034	0.2562	M	0.68952	2.095	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.99;0.996	T	0.65134	-0.6242	10	0.87932	D	0	.	10.0756	0.42358	0.9209:0.0:0.0791:0.0	.	95;95;95	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	G	95	ENSP00000409312:E95G	ENSP00000219865:E95G	E	+	2	0	APBA2	27133663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.729000	0.74775	0.832000	0.34804	0.528000	0.53228	GAG		0.607	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		NM_005503		3	170	0	0	0	0.009096	0	3	170		
TMEM87A	25963	broad.mit.edu	37	15	42512293	42512293	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:42512293C>T	ENST00000389834.4	-	16	1708	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	TMEM87A_ENST00000448392.1_Missense_Mutation_p.E421K|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	482	Poly-Glu.					integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TCCTTTTGTTCATCCTCCTCC	0.318																																						uc010udd.1		NaN																	0				ovary(1)	1						c.(1444-1446)GAA>AAA		transmembrane protein 87A isoform 1							106.0	115.0	112.0					15																	42512293		2203	4299	6502	SO:0001583	missense	25963					integral to membrane		g.chr15:42512293C>T	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1444G>A	15.37:g.42512293C>T	ENSP00000374484:p.Glu482Lys						p.E482K	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	16	1603	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	482			Poly-Glu.		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	c.1444G>A	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899642	0.91962	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.70619	-0.4822	9	0.16420	T	0.52	-19.0945	18.5553	0.91081	0.0:1.0:0.0:0.0	.	482	Q8NBN3	TM87A_HUMAN	K	482;421;458	.	ENSP00000374484:E482K	E	-	1	0	TMEM87A	40299585	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.436000	0.66538	2.817000	0.96982	0.563000	0.77884	GAA		0.318	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2		NM_015497		27	91	0	0	0	0.004289	0	27	91		
DENND4A	10260	broad.mit.edu	37	15	66015201	66015201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:66015201G>A	ENST00000431932.2	-	12	1781	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*	DENND4A_ENST00000443035.3_Nonsense_Mutation_p.Q525*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	525					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GCCAATTGCTGATGCAAATTA	0.308																																						uc002aph.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1573-1575)CAG>TAG		DENN/MADD domain containing 4A isoform 2							102.0	86.0	91.0					15																	66015201		1809	4066	5875	SO:0001587	stop_gained	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66015201G>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1573C>T	15.37:g.66015201G>A	ENSP00000396830:p.Gln525*					DENND4A_uc002api.2_Nonsense_Mutation_p.Q525*|DENND4A_uc002apj.3_Nonsense_Mutation_p.Q525*|DENND4A_uc010ujj.1_Nonsense_Mutation_p.Q525*	p.Q525*	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			12	1951	-			525					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	ENST00000431932.2	37	c.1573C>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	41	8.662810	0.98905	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	18.2232	0.89907	0.0:0.0:1.0:0.0	.	.	.	.	X	525	.	ENSP00000396830:Q525X	Q	-	1	0	DENND4A	63802255	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.767000	0.98960	2.360000	0.80028	0.563000	0.77884	CAG		0.308	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848		7	27	0	0	0	0.00308	0	7	27		
PAQR5	54852	broad.mit.edu	37	15	69677202	69677202	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:69677202C>T	ENST00000340965.3	+	5	1034	c.366C>T	c.(364-366)gcC>gcT	p.A122A	PAQR5_ENST00000395407.2_Silent_p.A122A|PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000561153.1_Silent_p.A122A	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	122					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)	p.A122A(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						ACTATGGTGCCGTCAACCTCT	0.562																																						uc002arz.2		NaN																	1	Substitution - coding silent(1)		kidney(1)	ovary(2)	2						c.(364-366)GCC>GCT		progestin and adipoQ receptor family member V							147.0	112.0	124.0					15																	69677202		2200	4298	6498	SO:0001819	synonymous_variant	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69677202C>T		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.366C>T	15.37:g.69677202C>T						PAQR5_uc002asa.2_Silent_p.A122A	p.A122A	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN			5	744	+			122			Helical; Name=3; (Potential).		Q8IXU2	Silent	SNP	ENST00000340965.3	37	c.366C>T	CCDS10232.1																																																																																				0.562	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1		NM_017705		16	19	0	0	0	0.006122	0	16	19		
BTBD1	53339	broad.mit.edu	37	15	83698894	83698894	+	Missense_Mutation	SNP	C	C	T	rs375946711		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:83698894C>T	ENST00000261721.4	-	5	1251	c.1049G>A	c.(1048-1050)cGa>cAa	p.R350Q	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.R350Q|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	350					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)		p.R350Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATACCTGATTCGATCACTCGT	0.448																																						uc002bjn.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(1048-1050)CGA>CAA		BTB (POZ) domain containing 1 isoform 1		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	285.0	299.0	294.0		1049,1049	5.2	0.1	15		294	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BTBD1	NM_001011885.1,NM_025238.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	350/386,350/483	83698894	1,13005	2203	4300	6503	SO:0001583	missense	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83698894C>T	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.1049G>A	15.37:g.83698894C>T	ENSP00000261721:p.Arg350Gln					BTBD1_uc002bjo.2_Missense_Mutation_p.R350Q	p.R350Q	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	5	1252	-			350					A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	c.1049G>A	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382808	0.95967	0.0	1.16E-4	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.15834	2.39;2.39	5.15	5.15	0.70609	PHR (1);	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.966;0.999	T	0.51702	-0.8672	10	0.59425	D	0.04	-15.4214	19.0002	0.92830	0.0:1.0:0.0:0.0	.	350;350	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	Q	350	ENSP00000261721:R350Q;ENSP00000368713:R350Q	ENSP00000261721:R350Q	R	-	2	0	BTBD1	81489898	1.000000	0.71417	0.067000	0.19924	0.974000	0.67602	7.713000	0.84693	2.569000	0.86673	0.561000	0.74099	CGA		0.448	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1				187	388	0	0	0	0.00361	0	187	388		
BTBD1	53339	broad.mit.edu	37	15	83735836	83735836	+	Missense_Mutation	SNP	G	G	A	rs544691434		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:83735836G>A	ENST00000261721.4	-	1	270	c.68C>T	c.(67-69)gCg>gTg	p.A23V	MIR4515_ENST00000584082.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.A23V|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	23					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		cggcggccccgcggggcccgg	0.736																																						uc002bjn.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(67-69)GCG>GTG		BTB (POZ) domain containing 1 isoform 1							5.0	7.0	6.0					15																	83735836		1918	3784	5702	SO:0001583	missense	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83735836G>A	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.68C>T	15.37:g.83735836G>A	ENSP00000261721:p.Ala23Val					BTBD1_uc002bjo.2_Missense_Mutation_p.A23V	p.A23V	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	1	271	-			23					A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	c.68C>T	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241694	0.79912	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.76060	-0.99;-0.89	3.52	-0.188	0.13264	.	1.397920	0.05411	U	0.542371	T	0.52435	0.1734	N	0.08118	0	0.20975	N	0.999814	B;B	0.22080	0.064;0.037	B;B	0.17722	0.019;0.002	T	0.39313	-0.9620	10	0.26408	T	0.33	1.9865	6.8108	0.23802	0.1048:0.3021:0.5931:0.0	.	23;23	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	V	23	ENSP00000261721:A23V;ENSP00000368713:A23V	ENSP00000261721:A23V	A	-	2	0	BTBD1	81526840	0.252000	0.23972	0.061000	0.19648	0.676000	0.39594	3.118000	0.50414	0.443000	0.26582	0.306000	0.20318	GCG		0.736	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1				4	5	0	0	0	0.009096	0	4	5		
MPG	4350	broad.mit.edu	37	16	135661	135661	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:135661G>A	ENST00000219431.4	+	5	1013	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	MPG_ENST00000397817.1_Missense_Mutation_p.R244Q|NPRL3_ENST00000405960.3_5'Flank	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	261					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCAGCAGCCCGGGTGGGCGTC	0.657								Base excision repair (BER), DNA glycosylases																														uc002cfn.2		NaN																	0				ovary(1)|skin(1)	2						c.(781-783)CGG>CAG	BER_DNA_glycosylases	N-methylpurine-DNA glycosylase isoform a							18.0	22.0	20.0					16																	135661		2200	4299	6499	SO:0001583	missense	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:135661G>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.782G>A	16.37:g.135661G>A	ENSP00000219431:p.Arg261Gln					MPG_uc002cfm.2_Missense_Mutation_p.R244Q|MPG_uc002cfo.2_Missense_Mutation_p.R256Q|NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_Intron	p.R261Q	NM_002434	NP_002425	P29372	3MG_HUMAN			5	1100	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	261					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	c.782G>A	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910568	0.72983	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.39	2.34	0.29019	Formyl transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.70988	0.3287	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70085	-0.4969	10	0.87932	D	0	-16.1002	5.9459	0.19219	0.1585:0.0:0.6888:0.1526	.	256;261	Q5J9I4;P29372	.;3MG_HUMAN	Q	244;244;256;261	ENSP00000388097:R244Q;ENSP00000380918:R244Q;ENSP00000348809:R256Q;ENSP00000219431:R261Q	ENSP00000219431:R261Q	R	+	2	0	MPG	75661	1.000000	0.71417	0.892000	0.35008	0.285000	0.27093	9.746000	0.98859	0.253000	0.21552	0.455000	0.32223	CGG		0.657	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4				4	6	0	0	0	0.009096	0	4	6		
SLX4	84464	broad.mit.edu	37	16	3639978	3639978	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:3639978C>A	ENST00000294008.3	-	12	4301	c.3661G>T	c.(3661-3663)Gcg>Tcg	p.A1221S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1221	Interaction with PLK1 and TERF2-TERF2IP.		A -> V (in dbSNP:rs3827530). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCCGGCAGCGCCCCCTCATCC	0.607								Direct reversal of damage																														uc002cvp.2		NaN																	0					0						c.(3661-3663)GCG>TCG	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							45.0	50.0	48.0					16																	3639978		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639978C>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3661G>T	16.37:g.3639978C>A	ENSP00000294008:p.Ala1221Ser						p.A1221S	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	4288	-			1221			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.3661G>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	6.277	0.419307	0.11928	.	.	ENSG00000188827	ENST00000294008	T	0.23754	1.89	5.71	-1.11	0.09840	.	1.988680	0.02298	N	0.070905	T	0.11750	0.0286	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.18023	-1.0350	10	0.09338	T	0.73	.	5.3428	0.15992	0.0:0.3782:0.2489:0.3729	.	1221	Q8IY92	SLX4_HUMAN	S	1221	ENSP00000294008:A1221S	ENSP00000294008:A1221S	A	-	1	0	SLX4	3579979	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.094000	0.11094	-0.181000	0.10619	0.591000	0.81541	GCG		0.607	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3		NM_032444		17	45	1	0	5.35267e-07	0.007413	5.46146e-07	17	45		
ERCC4	2072	broad.mit.edu	37	16	14021928	14021928	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:14021928G>A	ENST00000311895.7	+	4	637	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ERCC4_ENST00000575156.1_Missense_Mutation_p.E210K|CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000574781.1_3'UTR	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	210	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCACAAACCTGAAGTTGTAGA	0.343			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2		NaN	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(628-630)GAA>AAA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							119.0	112.0	114.0					16																	14021928		2197	4300	6497	SO:0001583	missense	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14021928G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.628G>A	16.37:g.14021928G>A	ENSP00000310520:p.Glu210Lys					ERCC4_uc010bva.2_Missense_Mutation_p.E210K	p.E210K	NM_005236	NP_005227	Q92889	XPF_HUMAN			4	637	+			210					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.628G>A	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351885	0.82132	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.59502	0.26	5.39	5.39	0.77823	.	0.047315	0.85682	D	0.000000	T	0.72700	0.3493	M	0.68593	2.085	0.80722	D	1	D;P	0.63046	0.992;0.82	P;P	0.62089	0.898;0.652	T	0.72130	-0.4383	10	0.42905	T	0.14	-29.2287	18.1723	0.89749	0.0:0.0:1.0:0.0	.	210;210	A5PKV6;Q92889	.;XPF_HUMAN	K	210;199;199	ENSP00000310520:E210K	ENSP00000310520:E210K	E	+	1	0	ERCC4	13929429	1.000000	0.71417	0.988000	0.46212	0.944000	0.59088	9.417000	0.97391	2.537000	0.85549	0.655000	0.94253	GAA		0.343	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2		NM_005236		29	77	0	0	0	0.007835	0	29	77		
TAOK2	9344	broad.mit.edu	37	16	29996729	29996729	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:29996729G>A	ENST00000308893.4	+	14	2661	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	TAOK2_ENST00000543033.1_Missense_Mutation_p.E540K|TAOK2_ENST00000279394.3_Missense_Mutation_p.E540K|TAOK2_ENST00000416441.2_Missense_Mutation_p.E367K	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	540					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCAGAGGCAGAAAAGCTGGC	0.672																																						uc002dva.1		NaN																	0				ovary(1)	1						c.(1618-1620)GAA>AAA		TAO kinase 2 isoform 2							16.0	17.0	17.0					16																	29996729		2189	4293	6482	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29996729G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1618G>A	16.37:g.29996729G>A	ENSP00000310094:p.Glu540Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.E540K|TAOK2_uc002dvc.1_Missense_Mutation_p.E540K|TAOK2_uc010bzm.1_Missense_Mutation_p.E547K|TAOK2_uc002dvd.1_Missense_Mutation_p.E367K	p.E540K	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			14	2401	+			540			Potential.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1618G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	36	5.724481	0.96847	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T;T	0.61742	0.08;0.82;0.82;0.82	5.51	5.51	0.81932	.	0.112183	0.64402	D	0.000018	T	0.74779	0.3761	M	0.76574	2.34	0.54753	D	0.999983	D;D;P;P;P	0.71674	0.979;0.998;0.855;0.647;0.945	B;D;P;B;P	0.63877	0.444;0.919;0.547;0.285;0.777	T	0.75178	-0.3409	9	.	.	.	.	18.1775	0.89766	0.0:0.0:1.0:0.0	.	731;367;540;540;540	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	K	540	ENSP00000393048:E540K;ENSP00000310094:E540K;ENSP00000440336:E540K;ENSP00000279394:E540K	.	E	+	1	0	TAOK2	29904230	1.000000	0.71417	0.960000	0.40013	0.812000	0.45895	9.864000	0.99589	2.580000	0.87095	0.563000	0.77884	GAA		0.672	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2		NM_016151		5	6	0	0	0	0.000602	0	5	6		
ZNF267	10308	broad.mit.edu	37	16	31927296	31927296	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:31927296T>C	ENST00000300870.10	+	4	1935	c.1726T>C	c.(1726-1728)Tac>Cac	p.Y576H		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	576					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AGAAAAACCATACAAATGTAA	0.383																																						uc002ecs.3		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1726-1728)TAC>CAC		zinc finger protein 267							63.0	66.0	65.0					16																	31927296		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927296T>C	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1726T>C	16.37:g.31927296T>C	ENSP00000300870:p.Tyr576His						p.Y576H	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	1935	+			576			C2H2-type 10.		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1726T>C	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	12.23	1.876327	0.33162	.	.	ENSG00000185947	ENST00000300870	T	0.21734	1.99	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23572	0.0570	L	0.41415	1.275	0.58432	D	0.999999	D	0.56287	0.975	P	0.54924	0.764	T	0.07539	-1.0767	9	0.62326	D	0.03	.	5.2175	0.15350	0.0:1.0E-4:0.0:0.9999	.	576	Q14586	ZN267_HUMAN	H	576	ENSP00000300870:Y576H	ENSP00000300870:Y576H	Y	+	1	0	ZNF267	31834797	0.122000	0.22280	0.037000	0.18230	0.031000	0.12232	3.619000	0.54196	0.413000	0.25759	0.402000	0.26972	TAC		0.383	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2		NM_003414		14	42	0	0	0	0.006122	0	14	42		
MYLK3	91807	broad.mit.edu	37	16	46771856	46771856	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46771856C>T	ENST00000394809.4	-	3	883	c.768G>A	c.(766-768)gaG>gaA	p.E256E	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	256					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCTGAGGTTCTCGCTGGGTG	0.647																																						uc002eei.3		NaN																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(766-768)GAG>GAA		myosin light chain kinase 3							59.0	56.0	57.0					16																	46771856		2203	4300	6503	SO:0001819	synonymous_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46771856C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.768G>A	16.37:g.46771856C>T						MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR	p.E256E	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			3	884	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	256					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	c.768G>A	CCDS10723.2																																																																																				0.647	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2		NM_182493		11	42	0	0	0	0.001368	0	11	42		
MYLK3	91807	broad.mit.edu	37	16	46772020	46772020	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46772020C>T	ENST00000394809.4	-	3	719	c.604G>A	c.(604-606)Gag>Aag	p.E202K	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	202					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCAGCCTCTCCGCTGTCCCC	0.637																																						uc002eei.3		NaN																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(604-606)GAG>AAG		myosin light chain kinase 3							11.0	11.0	11.0					16																	46772020		2125	4192	6317	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46772020C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.604G>A	16.37:g.46772020C>T	ENSP00000378288:p.Glu202Lys					MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR	p.E202K	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			3	720	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	202					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.604G>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	10.78	1.448073	0.26074	.	.	ENSG00000140795	ENST00000394809	T	0.69040	-0.37	4.79	2.75	0.32379	.	0.244413	0.21097	N	0.080221	T	0.54255	0.1847	L	0.54323	1.7	0.09310	N	0.999999	B	0.27498	0.18	B	0.20577	0.03	T	0.47086	-0.9144	10	0.46703	T	0.11	.	5.791	0.18361	0.0:0.6966:0.1986:0.1048	.	202	Q32MK0	MYLK3_HUMAN	K	202	ENSP00000378288:E202K	ENSP00000378288:E202K	E	-	1	0	MYLK3	45329521	0.000000	0.05858	0.118000	0.21660	0.394000	0.30568	0.697000	0.25556	2.490000	0.84030	0.655000	0.94253	GAG		0.637	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2		NM_182493		6	13	0	0	0	0.00308	0	6	13		
MYLK3	91807	broad.mit.edu	37	16	46773969	46773969	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46773969C>T	ENST00000394809.4	-	2	683	c.568G>A	c.(568-570)Gag>Aag	p.E190K	MYLK3_ENST00000536476.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	190					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCCACTCACCTTCCCCAGGC	0.502																																						uc002eei.3		NaN																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(568-570)GAG>AAG		myosin light chain kinase 3							175.0	154.0	161.0					16																	46773969		2203	4300	6503	SO:0001630	splice_region_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46773969C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.568+1G>A	16.37:g.46773969C>T						MYLK3_uc010vge.1_5'UTR|MYLK3_uc002eej.1_5'Flank	p.E190K	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			2	684	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	190					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.568G>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643738	0.87859	.	.	ENSG00000140795	ENST00000394809	T	0.68479	-0.33	5.58	5.58	0.84498	.	0.270959	0.20162	N	0.097928	T	0.75265	0.3826	M	0.62723	1.935	0.80722	D	1	D	0.56521	0.976	P	0.52598	0.703	T	0.73636	-0.3920	9	.	.	.	.	19.9455	0.97180	0.0:1.0:0.0:0.0	.	190	Q32MK0	MYLK3_HUMAN	K	190	ENSP00000378288:E190K	.	E	-	1	0	MYLK3	45331470	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	5.214000	0.65236	2.788000	0.95919	0.650000	0.86243	GAG		0.502	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2		NM_182493	Missense_Mutation	12	155	0	0	0	0.00333	0	12	155		
MYLK3	91807	broad.mit.edu	37	16	46773981	46773981	+	Missense_Mutation	SNP	C	C	T	rs55813660		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46773981C>T	ENST00000394809.4	-	2	671	c.556G>A	c.(556-558)Gag>Aag	p.E186K	MYLK3_ENST00000536476.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	186					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCCCAGGCTCCCTGGCATCA	0.473																																						uc002eei.3		NaN																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(556-558)GAG>AAG		myosin light chain kinase 3							183.0	161.0	168.0					16																	46773981		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46773981C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.556G>A	16.37:g.46773981C>T	ENSP00000378288:p.Glu186Lys					MYLK3_uc010vge.1_5'UTR|MYLK3_uc002eej.1_5'Flank	p.E186K	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			2	672	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	186					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.556G>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	3.042	-0.197272	0.06259	.	.	ENSG00000140795	ENST00000394809	T	0.64085	-0.08	5.34	2.97	0.34412	.	1.034140	0.07759	N	0.949768	T	0.30417	0.0764	N	0.03608	-0.345	0.27379	N	0.955471	B	0.02656	0.0	B	0.04013	0.001	T	0.42189	-0.9466	10	0.05721	T	0.95	.	2.6536	0.05005	0.0:0.4457:0.2932:0.2612	.	186	Q32MK0	MYLK3_HUMAN	K	186	ENSP00000378288:E186K	ENSP00000378288:E186K	E	-	1	0	MYLK3	45331482	0.001000	0.12720	0.006000	0.13384	0.000000	0.00434	0.487000	0.22356	1.379000	0.46325	-0.182000	0.12963	GAG		0.473	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2		NM_182493		12	165	0	0	0	0.003954	0	12	165		
CDH11	1009	broad.mit.edu	37	16	64981662	64981662	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:64981662A>C	ENST00000268603.4	-	13	2850	c.2235T>G	c.(2233-2235)taT>taG	p.Y745*	CDH11_ENST00000566827.1_Nonsense_Mutation_p.Y619*|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	745					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCTGCCTTCATAACCGTAGA	0.527			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NaN		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(2233-2235)TAT>TAG		cadherin 11, type 2 preproprotein							87.0	88.0	87.0					16																	64981662		2203	4300	6503	SO:0001587	stop_gained	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981662A>C	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2235T>G	16.37:g.64981662A>C	ENSP00000268603:p.Tyr745*	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Nonsense_Mutation_p.Y619*	p.Y745*	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2669	-		Ovarian(137;0.0973)	745			Cytoplasmic (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Nonsense_Mutation	SNP	ENST00000268603.4	37	c.2235T>G	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	A	38	7.268630	0.98175	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	.	.	.	6.17	-9.64	0.00541	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	21.3637	0.99952	0.7585:0.0:0.2415:0.0	.	.	.	.	X	745;728	.	ENSP00000268603:Y745X	Y	-	3	2	CDH11	63539163	0.002000	0.14202	0.037000	0.18230	0.982000	0.71751	-1.102000	0.03332	-1.909000	0.01085	-0.408000	0.06270	TAT		0.527	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1		NM_033664		16	57	0	0	0	0.008871	0	16	57		
SPATA33	124045	broad.mit.edu	37	16	89735693	89735693	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:89735693G>C	ENST00000301031.4	+	3	208		c.e3-1		SPATA33_ENST00000579310.1_Splice_Site	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33							cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTTTCCTCTAGAGAAACCTGA	0.458																																						uc002fnw.1		NaN																	0					0						c.e3-1		hypothetical protein LOC124045							52.0	55.0	54.0					16																	89735693		2198	4300	6498	SO:0001630	splice_region_variant	124045							g.chr16:89735693G>C	AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"""chromosome 16 open reading frame 55"""	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.209-1G>C	16.37:g.89735693G>C						C16orf55_uc010vpk.1_Splice_Site_p.E71_splice|C16orf55_uc002fny.1_Splice_Site	p.E70_splice	NM_153025	NP_694570	Q96N06	CP055_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	3	209	+		all_lung(18;0.000665)|all_hematologic(23;0.0355)						A8WFL2|B4DZN8	Splice_Site	SNP	ENST00000301031.4	37	c.209_splice	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033927	0.54896	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4272	0.55553	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C16orf55	88263194	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	3.964000	0.56780	2.072000	0.62099	0.579000	0.79373	.		0.458	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269924.2		NM_153025	Intron	8	32	0	0	0	0.004482	0	8	32		
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	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.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		54	16	0	0	0	0.00361	0	54	16		
MYH10	4628	broad.mit.edu	37	17	8379127	8379127	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:8379127C>G	ENST00000269243.4	-	41	6064	c.5926G>C	c.(5926-5928)Gag>Cag	p.E1976Q	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.E1992Q|MYH10_ENST00000360416.3_Missense_Mutation_p.E2007Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1997Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1976					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CAACTTTACTCTGACTGGGGT	0.562																																						uc002gll.2		NaN																	0				ovary(2)	2						c.(5926-5928)GAG>CAG		myosin, heavy polypeptide 10, non-muscle							182.0	177.0	179.0					17																	8379127		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8379127C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5926G>C	17.37:g.8379127C>G	ENSP00000269243:p.Glu1976Gln					MYH10_uc002glm.2_Missense_Mutation_p.E2007Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1985Q	p.E1976Q	NM_005964	NP_005955	P35580	MYH10_HUMAN			41	6022	-			1976			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5926G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588602	0.46110	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.86097	-2.05;-2.06;-2.07;-2.04	4.89	4.89	0.63831	.	0.124954	0.52532	D	0.000068	D	0.84906	0.5576	N	0.08118	0	0.53688	D	0.999971	D;D;D	0.61080	0.981;0.989;0.981	D;D;D	0.70487	0.932;0.969;0.932	D	0.88640	0.3175	10	0.87932	D	0	.	18.1874	0.89796	0.0:1.0:0.0:0.0	.	1985;2007;1976	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1976;2007;1997;1992	ENSP00000269243:E1976Q;ENSP00000353590:E2007Q;ENSP00000379539:E1997Q;ENSP00000369315:E1992Q	ENSP00000269243:E1976Q	E	-	1	0	MYH10	8319852	1.000000	0.71417	0.443000	0.26883	0.800000	0.45204	7.117000	0.77129	2.681000	0.91329	0.655000	0.94253	GAG		0.562	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2				151	67	0	0	0	0.00361	0	151	67		
SUZ12	23512	broad.mit.edu	37	17	30323833	30323833	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:30323833C>G	ENST00000322652.5	+	15	2040	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	SUZ12_ENST00000580398.1_Missense_Mutation_p.S581C	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	604	VEFS-box.				histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GAAGAGTTTTCTGATGTTAAT	0.294			T	JAZF1	endometrial stromal tumours																																	uc002hgs.2		NaN		Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	JAZF1/SUZ12(131)	0				soft_tissue(98)|endometrium(33)	131						c.(1810-1812)TCT>TGT		joined to JAZF1							40.0	43.0	42.0					17																	30323833		2202	4292	6494	SO:0001583	missense	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30323833C>G	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1811C>G	17.37:g.30323833C>G	ENSP00000316578:p.Ser604Cys					SUZ12_uc002hgt.2_Missense_Mutation_p.S581C	p.S604C	NM_015355	NP_056170	Q15022	SUZ12_HUMAN			15	2033	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	604			VEFS-box.		Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	c.1811C>G	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	c	13.48	2.249153	0.39797	.	.	ENSG00000178691	ENST00000322652	T	0.46819	0.86	5.67	5.67	0.87782	Polycomb protein, VEFS-Box (1);	0.155265	0.64402	D	0.000017	T	0.50343	0.1610	N	0.14661	0.345	0.50313	D	0.999862	D;P	0.56287	0.975;0.6	P;P	0.57204	0.815;0.674	T	0.57266	-0.7841	10	0.87932	D	0	-1.8361	19.8178	0.96578	0.0:1.0:0.0:0.0	.	604;604	A8K1U9;Q15022	.;SUZ12_HUMAN	C	604	ENSP00000316578:S604C	ENSP00000316578:S604C	S	+	2	0	SUZ12	27347946	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.877000	0.69675	2.681000	0.91329	0.558000	0.71614	TCT		0.294	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2		NM_015355		38	32	0	0	0	0.00361	0	38	32		
GAS2L2	246176	broad.mit.edu	37	17	34077315	34077315	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:34077315C>T	ENST00000254466.6	-	2	435	c.408G>A	c.(406-408)gaG>gaA	p.E136E	GAS2L2_ENST00000587565.1_Silent_p.E136E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	136	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCACCAAGTCCTCCGTCTCGA	0.662																																						uc002hjv.1		NaN																	0				ovary(1)|skin(1)	2						c.(406-408)GAG>GAA		growth arrest-specific 2 like 2							115.0	118.0	117.0					17																	34077315		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34077315C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.408G>A	17.37:g.34077315C>T							p.E136E	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	436	-		Ovarian(249;0.17)	136			CH.		Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.408G>A	CCDS11298.1																																																																																				0.662	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1		NM_139285		27	260	0	0	0	0.00632	0	27	260		
GAS2L2	246176	broad.mit.edu	37	17	34079717	34079717	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:34079717G>T	ENST00000254466.6	-	1	180	c.153C>A	c.(151-153)gaC>gaA	p.D51E	GAS2L2_ENST00000587565.1_Missense_Mutation_p.D51E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	51	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTTGGCTGCGTCGATGTCCA	0.607																																						uc002hjv.1		NaN																	0				ovary(1)|skin(1)	2						c.(151-153)GAC>GAA		growth arrest-specific 2 like 2							85.0	68.0	73.0					17																	34079717		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34079717G>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.153C>A	17.37:g.34079717G>T	ENSP00000254466:p.Asp51Glu						p.D51E	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	181	-		Ovarian(249;0.17)	51			CH.		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.153C>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	7.613	0.675123	0.14841	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	T	0.41400	1.0	5.46	-2.58	0.06228	Calponin homology domain (5);	0.552403	0.18464	N	0.140438	T	0.24661	0.0598	L	0.31845	0.965	0.09310	N	1	P	0.39181	0.663	B	0.37508	0.252	T	0.27088	-1.0084	10	0.21540	T	0.41	-10.2925	8.2982	0.31997	0.5725:0.1234:0.304:0.0	.	51	Q8NHY3	GA2L2_HUMAN	E	51	ENSP00000254466:D51E	ENSP00000254466:D51E	D	-	3	2	GAS2L2	31103830	0.000000	0.05858	0.004000	0.12327	0.181000	0.23173	-0.873000	0.04214	-0.572000	0.06006	-0.218000	0.12543	GAC		0.607	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1		NM_139285		60	87	1	0	4.09166e-32	0.00361	4.44592e-32	60	87		
ACACA	31	broad.mit.edu	37	17	35615271	35615271	+	Silent	SNP	T	T	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:35615271T>G	ENST00000394406.2	-	13	1604	c.1414A>C	c.(1414-1416)Aga>Cga	p.R472R	ACACA_ENST00000353139.5_Silent_p.R509R|ACACA_ENST00000335166.5_Silent_p.R394R|ACACA_ENST00000360679.3_Silent_p.R414R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	472	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCTTGATTCTATATAGAGGA	0.403																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1414-1416)AGA>CGA		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						72.0	71.0	71.0					17																	35615271		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35615271T>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1414A>C	17.37:g.35615271T>G						ACACA_uc002hnk.2_Silent_p.R394R|ACACA_uc002hnl.2_Silent_p.R414R|ACACA_uc002hnn.2_Silent_p.R472R|ACACA_uc002hno.2_Silent_p.R509R|ACACA_uc010cuz.2_Silent_p.R472R	p.R472R	NM_198836	NP_942133	Q13085	ACACA_HUMAN			13	1605	-		Breast(25;0.00157)|Ovarian(249;0.15)	472			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.1414A>C	CCDS11317.1																																																																																				0.403	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		23	110	0	0	0	0.009535	0	23	110		
ERBB2	2064	broad.mit.edu	37	17	37868200	37868200	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:37868200C>T	ENST00000269571.5	+	8	1080	c.921C>T	c.(919-921)gaC>gaT	p.D307D	ERBB2_ENST00000584450.1_Silent_p.D307D|ERBB2_ENST00000584601.1_Silent_p.D277D|ERBB2_ENST00000578199.1_Silent_p.D277D|ERBB2_ENST00000540042.1_Silent_p.D277D|ERBB2_ENST00000406381.2_Silent_p.D277D|ERBB2_ENST00000541774.1_Silent_p.D292D|ERBB2_ENST00000540147.1_Silent_p.D277D|ERBB2_ENST00000445658.2_Silent_p.D31D			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	307					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TTTCTACGGACGTGGGATCCT	0.577		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(919-921)GAC>GAT		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						268.0	220.0	237.0					17																	37868200		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37868200C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.921C>T	17.37:g.37868200C>T		TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Silent_p.D277D|ERBB2_uc010cwa.2_Silent_p.D292D|ERBB2_uc002hsp.2_Silent_p.D110D|ERBB2_uc010cwb.2_Silent_p.D307D|ERBB2_uc010wek.1_Silent_p.D31D|ERBB2_uc002hsl.2_Silent_p.D277D|ERBB2_uc002hsn.1_Silent_p.D307D	p.D307D	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	8	1159	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	307			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.921C>T	CCDS32642.1																																																																																				0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				9	949	0	0	0	0.010729	0	9	949		
TUBG2	27175	broad.mit.edu	37	17	40817733	40817733	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:40817733G>A	ENST00000251412.7	+	8	930	c.731G>A	c.(730-732)cGc>cAc	p.R244H	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	244					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		ACCACCCTGCGCTACCCCGGC	0.637																																						uc010wgr.1		NaN																	0				ovary(1)	1						c.(730-732)CGC>CAC		tubulin, gamma 2							192.0	149.0	163.0					17																	40817733		2203	4300	6503	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40817733G>A	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.731G>A	17.37:g.40817733G>A	ENSP00000251412:p.Arg244His					TUBG2_uc002iaq.2_Missense_Mutation_p.R86H|TUBG2_uc002iar.2_Missense_Mutation_p.R91H|TUBG2_uc002ias.2_Missense_Mutation_p.R86H|TUBG2_uc002iap.2_Missense_Mutation_p.R91H	p.R244H	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	8	987	+		Breast(137;0.00116)	244					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.731G>A	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937497	0.92458	.	.	ENSG00000037042	ENST00000251412	T	0.74526	-0.85	4.76	3.78	0.43462	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.89196	0.6646	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.91286	0.5055	10	0.87932	D	0	-26.6919	12.0995	0.53774	0.0833:0.0:0.9167:0.0	.	244	Q9NRH3	TBG2_HUMAN	H	244	ENSP00000251412:R244H	ENSP00000251412:R244H	R	+	2	0	TUBG2	38071259	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.475000	0.97721	1.003000	0.39130	0.561000	0.74099	CGC		0.637	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1		NM_016437		78	162	0	0	0	0.00361	0	78	162		
IFI35	3430	broad.mit.edu	37	17	41168155	41168155	+	IGR	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:41168155C>T	ENST00000415816.2	+	0	1241				VAT1_ENST00000355653.3_Missense_Mutation_p.D369N|VAT1_ENST00000420567.3_Missense_Mutation_p.D235N|VAT1_ENST00000587173.1_Missense_Mutation_p.D301N	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		TTCATGGCATCAGCCACCTGG	0.567																																						uc002icm.1		NaN																	0					0						c.(1105-1107)GAT>AAT		vesicle amine transport protein 1							269.0	248.0	255.0					17																	41168155		2203	4300	6503	SO:0001628	intergenic_variant	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41168155C>T	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168155C>T						VAT1_uc010cyw.1_Missense_Mutation_p.D235N|VAT1_uc010whk.1_Missense_Mutation_p.D301N	p.D369N	NM_006373	NP_006364	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	6	1225	-		Breast(137;0.000717)	369					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.1105G>A		.	.	.	.	.	.	.	.	.	.	C	19.07	3.755730	0.69648	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.12255	3.45;2.7	5.24	5.24	0.73138	.	0.100209	0.64402	D	0.000003	T	0.38241	0.1033	M	0.86420	2.815	0.80722	D	1	D;P	0.67145	0.996;0.63	P;P	0.54924	0.764;0.459	T	0.45963	-0.9225	10	0.66056	D	0.02	-14.9871	18.8333	0.92150	0.0:1.0:0.0:0.0	.	301;369	B4DPX4;Q99536	.;VAT1_HUMAN	N	369;276;235	ENSP00000347872:D369N;ENSP00000408553:D235N	ENSP00000347872:D369N	D	-	1	0	VAT1	38421681	0.986000	0.35501	0.994000	0.49952	0.741000	0.42261	2.787000	0.47798	2.468000	0.83385	0.561000	0.74099	GAT		0.567	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1		NM_005533		9	424	0	0	0	0.008291	0	9	424		
BCAS3	54828	broad.mit.edu	37	17	59152341	59152341	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:59152341C>T	ENST00000390652.5	+	21	2166	c.2135C>T	c.(2134-2136)tCt>tTt	p.S712F	BCAS3_ENST00000589222.1_Missense_Mutation_p.S697F|BCAS3_ENST00000588874.1_Missense_Mutation_p.S468F|BCAS3_ENST00000407086.3_Missense_Mutation_p.S697F|BCAS3_ENST00000585744.1_Missense_Mutation_p.S483F|BCAS3_ENST00000408905.3_Missense_Mutation_p.S697F|BCAS3_ENST00000588462.1_Missense_Mutation_p.S712F	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTTTAGCTTCTGACCATAGT	0.378																																						uc002iyv.3		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(2134-2136)TCT>TTT		breast carcinoma amplified sequence 3 isoform 1							105.0	99.0	101.0					17																	59152341		1834	4094	5928	SO:0001583	missense	54828					nucleus		g.chr17:59152341C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2135C>T	17.37:g.59152341C>T	ENSP00000375067:p.Ser712Phe					BCAS3_uc002iyu.3_Missense_Mutation_p.S697F|BCAS3_uc002iyw.3_Missense_Mutation_p.S693F|BCAS3_uc002iyy.3_Missense_Mutation_p.S468F|BCAS3_uc002iyz.3_Missense_Mutation_p.S266F|BCAS3_uc002iza.3_Missense_Mutation_p.S251F	p.S712F	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		21	2244	+			712						Missense_Mutation	SNP	ENST00000390652.5	37	c.2135C>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957369	0.92726	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905	T;T;T	0.34667	1.36;1.37;1.35	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58680	0.2139	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.999;0.994;0.998;0.994	D;D;D;D;D	0.77004	0.961;0.952;0.989;0.967;0.989	T	0.56649	-0.7944	10	0.62326	D	0.03	.	20.1208	0.97960	0.0:1.0:0.0:0.0	.	697;712;697;712;697	Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	F	712;697;697	ENSP00000375067:S712F;ENSP00000385323:S697F;ENSP00000386173:S697F	ENSP00000375067:S712F	S	+	2	0	BCAS3	56507123	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.758000	0.94735	0.655000	0.94253	TCT		0.378	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1		NM_017679		64	112	0	0	0	0.00361	0	64	112		
ABCA8	10351	broad.mit.edu	37	17	66899519	66899519	+	Silent	SNP	G	G	A	rs144614574		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:66899519G>A	ENST00000269080.2	-	18	2537	c.2400C>T	c.(2398-2400)ctC>ctT	p.L800L	ABCA8_ENST00000430352.2_Silent_p.L840L|ABCA8_ENST00000586539.1_Silent_p.L840L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	800					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCTGTCGCCAGAGAGCCACAC	0.433																																						uc002jhp.2		NaN																	0				ovary(2)|skin(1)	3						c.(2398-2400)CTC>CTT		ATP-binding cassette, sub-family A member 8		G		0,4406		0,0,2203	148.0	137.0	141.0		2400	1.7	1.0	17	dbSNP_134	141	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ABCA8	NM_007168.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		800/1582	66899519	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66899519G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2400C>T	17.37:g.66899519G>A						ABCA8_uc002jhq.2_Silent_p.L840L|ABCA8_uc010wqq.1_Silent_p.L840L|ABCA8_uc010wqr.1_Silent_p.L779L|ABCA8_uc002jhr.2_Silent_p.L840L	p.L800L	NM_007168	NP_009099	O94911	ABCA8_HUMAN			18	2579	-	Breast(10;4.56e-13)		800					A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.2400C>T	CCDS11680.1																																																																																				0.433	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168		69	133	0	0	0	0.00361	0	69	133		
DSG2	1829	broad.mit.edu	37	18	29125912	29125912	+	Missense_Mutation	SNP	C	C	A	rs201707876		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:29125912C>A	ENST00000261590.8	+	15	2772	c.2563C>A	c.(2563-2565)Caa>Aaa	p.Q855K	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	855					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGAGCAGAGACAAAAACCTGC	0.388																																						uc002kwu.3		NaN																	0				central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(2563-2565)CAA>AAA		desmoglein 2 preproprotein							66.0	67.0	67.0					18																	29125912		1838	4086	5924	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29125912C>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2563C>A	18.37:g.29125912C>A	ENSP00000261590:p.Gln855Lys					uc002kwv.3_Intron	p.Q855K	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	2751	+			855			Cytoplasmic (Potential).		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2563C>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883870	0.17467	.	.	ENSG00000046604	ENST00000261590	T	0.58358	0.34	5.45	2.63	0.31362	.	0.703517	0.12893	N	0.430424	T	0.32585	0.0834	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34030	-0.9845	10	0.02654	T	1	.	3.7903	0.08718	0.2685:0.3946:0.2615:0.0754	.	855	Q14126	DSG2_HUMAN	K	855	ENSP00000261590:Q855K	ENSP00000261590:Q855K	Q	+	1	0	DSG2	27379910	0.003000	0.15002	0.434000	0.26772	0.802000	0.45316	0.500000	0.22562	0.244000	0.21351	0.655000	0.94253	CAA		0.388	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1		NM_001943		4	95	1	0	0.000566183	0.00499	0.000573032	4	95		
CCDC178	374864	broad.mit.edu	37	18	30804901	30804901	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:30804901C>G	ENST00000383096.3	-	17	1839		c.e17-1		CCDC178_ENST00000402325.1_Splice_Site|CCDC178_ENST00000403303.1_Splice_Site|CCDC178_ENST00000579947.1_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000300227.8_Splice_Site			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178																		ATAGTTTTTTCTGCCAGCAAA	0.328																																						uc002kxn.2		NaN																	0				ovary(1)	1						c.e16-1		hypothetical protein LOC374864 isoform 1							54.0	53.0	53.0					18																	30804901		2202	4300	6502	SO:0001630	splice_region_variant	374864							g.chr18:30804901C>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1657-1G>C	18.37:g.30804901C>G						C18orf34_uc010dme.1_Splice_Site_p.K67_splice|C18orf34_uc010xbr.1_Splice_Site_p.K553_splice|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Splice_Site_p.K553_splice|C18orf34_uc002kxp.2_Splice_Site_p.K553_splice	p.K553_splice	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			16	1799	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Splice_Site	SNP	ENST00000383096.3	37	c.1657_splice	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443194	0.43429	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9721	0.58517	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C18orf34	29058899	1.000000	0.71417	0.992000	0.48379	0.161000	0.22273	2.968000	0.49224	2.785000	0.95823	0.650000	0.86243	.		0.328	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2		NM_198995	Intron	13	50	0	0	0	0.004007	0	13	50		
SEC11C	90701	broad.mit.edu	37	18	56816747	56816747	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:56816747C>T	ENST00000587834.1	+	2	562	c.90C>T	c.(88-90)ctC>ctT	p.L30L	SEC11C_ENST00000588875.1_Silent_p.L30L	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	30					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				CATTCCAGCTCTATTACCAGG	0.448																																						uc002lht.2		NaN																	0					0						c.(88-90)CTC>CTT		SEC11-like 3							174.0	161.0	165.0					18																	56816747		2203	4300	6503	SO:0001819	synonymous_variant	90701				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity	g.chr18:56816747C>T	AF212233	CCDS11970.1	18q21.32	2006-11-07	2006-11-07	2006-11-07	ENSG00000166562	ENSG00000166562			23400	protein-coding gene	gene with protein product			"""SEC11-like 3 (S. cerevisiae)"""	SEC11L3			Standard	NM_033280		Approved	SPC21, SPCS4C	uc002lht.3	Q9BY50	OTTHUMG00000132762	ENST00000587834.1:c.90C>T	18.37:g.56816747C>T						SEC11C_uc010dpo.1_Silent_p.L30L|SEC11C_uc010xej.1_Silent_p.L30L	p.L30L	NM_033280	NP_150596	Q9BY50	SC11C_HUMAN			2	146	+		Colorectal(73;0.175)	30			Helical; Signal-anchor for type II membrane protein; (Potential).		B2RAA3	Silent	SNP	ENST00000587834.1	37	c.90C>T	CCDS11970.1																																																																																				0.448	SEC11C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256134.2		NM_033280		59	57	0	0	0	0.00361	0	59	57		
ZCCHC2	54877	broad.mit.edu	37	18	60241918	60241918	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:60241918C>T	ENST00000269499.5	+	13	3022	c.2604C>T	c.(2602-2604)atC>atT	p.I868I	ZCCHC2_ENST00000586834.1_Silent_p.I547I	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	868						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CGGACCCCATCACAAAATCTG	0.507																																						uc002lip.3		NaN																	0				lung(1)|prostate(1)	2						c.(2602-2604)ATC>ATT		zinc finger, CCHC domain containing 2							133.0	128.0	130.0					18																	60241918		1994	4190	6184	SO:0001819	synonymous_variant	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241918C>T	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2604C>T	18.37:g.60241918C>T						ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.I338I	p.I868I	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			13	2604	+			868					B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	c.2604C>T	CCDS45880.1																																																																																				0.507	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1		NM_017742		33	117	0	0	0	0.004878	0	33	117		
VPS4B	9525	broad.mit.edu	37	18	61058250	61058250	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:61058250C>G	ENST00000238497.5	-	11	1496	c.1293G>C	c.(1291-1293)ttG>ttC	p.L431F		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	431					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TCTTTAATTTCAACAAGTCAT	0.353																																						uc002lix.2		NaN																	0				ovary(1)	1						c.(1291-1293)TTG>TTC		vacuolar protein sorting factor 4B							126.0	121.0	123.0					18																	61058250		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61058250C>G	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.1293G>C	18.37:g.61058250C>G	ENSP00000238497:p.Leu431Phe						p.L431F	NM_004869	NP_004860	O75351	VPS4B_HUMAN			11	1553	-			431					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.1293G>C	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539056	0.45176	.	.	ENSG00000119541	ENST00000238497	D	0.94828	-3.53	5.78	2.03	0.26663	Vps4 oligomerisation, C-terminal (1);	0.446678	0.23302	N	0.049676	D	0.90669	0.7073	L	0.42245	1.32	0.80722	D	1	B	0.27853	0.191	B	0.31245	0.126	D	0.87556	0.2468	10	0.66056	D	0.02	-11.0558	9.132	0.36850	0.0:0.603:0.0:0.397	.	431	O75351	VPS4B_HUMAN	F	431	ENSP00000238497:L431F	ENSP00000238497:L431F	L	-	3	2	VPS4B	59209230	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.315000	0.19451	0.801000	0.34066	0.655000	0.94253	TTG		0.353	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2		NM_004869		24	39	0	0	0	0.012213	0	24	39		
C19orf26	255057	broad.mit.edu	37	19	1231042	1231042	+	Intron	SNP	C	C	A	rs75463186	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:1231042C>A	ENST00000382477.2	-	9	1489				C19orf26_ENST00000590083.1_Silent_p.S404S|C19orf26_ENST00000215376.6_Silent_p.S398S			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TAGGGGGGGGCGAAGGGGGGC	0.716										HNSCC(14;0.022)																												uc002lrm.2		NaN																	0					0						c.(1192-1194)TCG>TCT		downstream of Stk11							11.0	14.0	13.0					19																	1231042		2155	4232	6387	SO:0001627	intron_variant	255057					integral to membrane		g.chr19:1231042C>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.1214+57G>T	19.37:g.1231042C>A		HNSCC(14;0.022)					p.S398S	NM_152769	NP_689982	Q8N350	DOS_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)	9	1469	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O43385	Silent	SNP	ENST00000382477.2	37	c.1194G>T																																																																																					0.716	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_152769		6	28	1	0	2.0095e-06	0.001984	2.04204e-06	6	28		
MUC16	94025	broad.mit.edu	37	19	9071151	9071151	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:9071151G>C	ENST00000397910.4	-	3	16498	c.16295C>G	c.(16294-16296)tCt>tGt	p.S5432C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5434	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATGTCCAGACCCGGAAGT	0.522																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16294-16296)TCT>TGT		mucin 16							318.0	304.0	309.0					19																	9071151		2101	4220	6321	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071151G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16295C>G	19.37:g.9071151G>C	ENSP00000381008:p.Ser5432Cys						p.S5432C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16499	-			5434			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16295C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.949	-0.217089	0.06101	.	.	ENSG00000181143	ENST00000397910	T	0.32023	1.47	2.2	1.11	0.20524	.	.	.	.	.	T	0.37019	0.0988	L	0.29908	0.895	.	.	.	D	0.71674	0.998	D	0.73380	0.98	T	0.46721	-0.9171	8	0.87932	D	0	.	6.6161	0.22778	0.0:0.302:0.698:0.0	.	5432	B5ME49	.	C	5432	ENSP00000381008:S5432C	ENSP00000381008:S5432C	S	-	2	0	MUC16	8932151	0.003000	0.15002	0.001000	0.08648	0.006000	0.05464	1.416000	0.34759	0.459000	0.27016	0.313000	0.20887	TCT		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		6	369	0	0	0	0.001984	0	6	369		
MUC16	94025	broad.mit.edu	37	19	9076312	9076312	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:9076312T>C	ENST00000397910.4	-	3	11337	c.11134A>G	c.(11134-11136)Aca>Gca	p.T3712A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3713	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATGATCTGTAGAAACCATT	0.458																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(11134-11136)ACA>GCA		mucin 16							117.0	115.0	116.0					19																	9076312		1975	4173	6148	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076312T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11134A>G	19.37:g.9076312T>C	ENSP00000381008:p.Thr3712Ala						p.T3712A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	11338	-			3713			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11134A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.592	-0.295014	0.05568	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	1.76	-2.27	0.06846	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	.	.	.	P	0.39424	0.673	B	0.41236	0.351	T	0.40327	-0.9569	8	0.87932	D	0	.	0.1198	0.00064	0.2404:0.1755:0.244:0.3402	.	3712	B5ME49	.	A	3712	ENSP00000381008:T3712A	ENSP00000381008:T3712A	T	-	1	0	MUC16	8937312	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.251000	0.02882	-0.787000	0.04510	0.260000	0.18958	ACA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		32	123	0	0	0	0.004878	0	32	123		
CARM1	10498	broad.mit.edu	37	19	11031771	11031771	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:11031771C>G	ENST00000327064.4	+	14	1773	c.1583C>G	c.(1582-1584)tCc>tGc	p.S528C	CARM1_ENST00000344150.4_Missense_Mutation_p.S528C	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	528	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCCAGTGGCTCCAGCGTGGGC	0.662																																						uc002mpz.2		NaN																	0					0						c.(1582-1584)TCC>TGC		coactivator-associated arginine							53.0	49.0	51.0					19																	11031771		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11031771C>G	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1583C>G	19.37:g.11031771C>G	ENSP00000325690:p.Ser528Cys					CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.S311C	p.S528C	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			14	1709	+			528			Transactivation domain (By similarity).		A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.1583C>G	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603991	0.66445	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28069	1.63;1.64	5.02	5.02	0.67125	.	0.602245	0.16685	N	0.203768	T	0.36580	0.0972	L	0.36672	1.1	0.41417	D	0.98777	D;P	0.53619	0.961;0.698	P;B	0.50378	0.639;0.241	T	0.08680	-1.0710	10	0.39692	T	0.17	-6.0536	17.1269	0.86716	0.0:1.0:0.0:0.0	.	528;528	Q86X55-1;Q86X55	.;CARM1_HUMAN	C	528	ENSP00000325690:S528C;ENSP00000340934:S528C	ENSP00000325690:S528C	S	+	2	0	CARM1	10892771	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.604000	0.61112	2.324000	0.78689	0.637000	0.83480	TCC		0.662	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1		XM_032719		11	44	0	0	0	0.003163	0	11	44		
BEST2	54831	broad.mit.edu	37	19	12864153	12864153	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:12864153G>C	ENST00000549706.1	+	3	556	c.232G>C	c.(232-234)Gtc>Ctc	p.V78L	BEST2_ENST00000553030.1_Missense_Mutation_p.V78L|BEST2_ENST00000042931.1_Missense_Mutation_p.V78L			Q8NFU1	BEST2_HUMAN	bestrophin 2	78					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CCTCATCCCTGTCTCCTTCGT	0.552																																						uc002mux.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(232-234)GTC>CTC		vitelliform macular dystrophy 2-like 1							190.0	180.0	183.0					19																	12864153		2062	4207	6269	SO:0001583	missense	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12864153G>C	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.232G>C	19.37:g.12864153G>C	ENSP00000448310:p.Val78Leu						p.V78L	NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN			2	232	+			78			Helical; (Potential).		Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	c.232G>C	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	G	3.037	-0.198442	0.06219	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.96104	-3.91;-3.91;-3.91	3.95	2.88	0.33553	.	0.086788	0.45867	D	0.000324	D	0.87370	0.6160	N	0.11023	0.085	0.38652	D	0.951879	B	0.11235	0.004	B	0.18871	0.023	T	0.79697	-0.1695	10	0.07813	T	0.8	-39.905	12.5714	0.56339	0.0:0.1696:0.8304:0.0	.	78	Q8NFU1	BEST2_HUMAN	L	78	ENSP00000448310:V78L;ENSP00000447203:V78L;ENSP00000042931:V78L	ENSP00000042931:V78L	V	+	1	0	BEST2	12725153	0.289000	0.24334	0.746000	0.31095	0.875000	0.50365	0.783000	0.26802	0.767000	0.33267	0.313000	0.20887	GTC		0.552	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1		NM_017682		20	124	0	0	0	0.00278	0	20	124		
ZNF257	113835	broad.mit.edu	37	19	22271633	22271633	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:22271633C>G	ENST00000594947.1	+	4	1225	c.1081C>G	c.(1081-1083)Caa>Gaa	p.Q361E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACACCTTACTCAACATAAGAT	0.398																																						uc010ecx.2		NaN																	0					0						c.(1081-1083)CAA>GAA		zinc finger protein 257							38.0	42.0	41.0					19																	22271633		2138	4262	6400	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271633C>G	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1081C>G	19.37:g.22271633C>G	ENSP00000470209:p.Gln361Glu					ZNF257_uc010ecy.2_Missense_Mutation_p.Q329E	p.Q361E	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1250	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	361			C2H2-type 7.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1081C>G	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869529	0.00547	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16557	0.0398	N	0.16266	0.395	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24657	-1.0154	8	0.20519	T	0.43	.	3.458	0.07523	0.3183:0.244:0.4377:0.0	.	361	Q9Y2Q1	ZN257_HUMAN	E	361;333	.	ENSP00000380312:Q333E	Q	+	1	0	ZNF257	22063473	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	-7.297000	0.00039	-0.555000	0.06142	-0.802000	0.03209	CAA		0.398	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1				13	37	0	0	0	0.006122	0	13	37		
SIPA1L3	23094	broad.mit.edu	37	19	38655151	38655151	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:38655151C>G	ENST00000222345.6	+	15	4322	c.3813C>G	c.(3811-3813)agC>agG	p.S1271R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1271					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATTCCAGCAGCAACACCCTCT	0.622																																						uc002ohk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3811-3813)AGC>AGG		signal-induced proliferation-associated 1 like							97.0	91.0	93.0					19																	38655151		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38655151C>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3813C>G	19.37:g.38655151C>G	ENSP00000222345:p.Ser1271Arg						p.S1271R	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		15	4322	+			1271					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3813C>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131281	0.77549	.	.	ENSG00000105738	ENST00000222345	T	0.54479	0.57	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	M	0.66297	2.02	0.52501	D	0.999951	D	0.76494	0.999	D	0.69479	0.964	T	0.74306	-0.3708	10	0.72032	D	0.01	-29.3269	15.7806	0.78257	0.0:1.0:0.0:0.0	.	1271	O60292	SI1L3_HUMAN	R	1271	ENSP00000222345:S1271R	ENSP00000222345:S1271R	S	+	3	2	SIPA1L3	43346991	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.381000	0.59587	2.059000	0.61396	0.655000	0.94253	AGC		0.622	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		XM_032278		72	139	0	0	0	0.00361	0	72	139		
HNRNPUL1	11100	broad.mit.edu	37	19	41782119	41782119	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:41782119C>T	ENST00000392006.3	+	5	875	c.702C>T	c.(700-702)ctC>ctT	p.L234L	HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000263367.3_Silent_p.L145L|HNRNPUL1_ENST00000595018.1_Silent_p.L134L|HNRNPUL1_ENST00000602130.1_Silent_p.L234L|HNRNPUL1_ENST00000352456.3_Silent_p.L134L|HNRNPUL1_ENST00000593587.1_Silent_p.L134L|HNRNPUL1_ENST00000378215.4_Silent_p.L191L	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	234	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GCTATCCGCTCACAATTGAGG	0.517																																						uc002oqb.3		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(700-702)CTC>CTT		heterogeneous nuclear ribonucleoprotein U-like 1							120.0	116.0	117.0					19																	41782119		2203	4300	6503	SO:0001819	synonymous_variant	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41782119C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.702C>T	19.37:g.41782119C>T						CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.L134L|HNRNPUL1_uc002oqa.3_Silent_p.L134L|HNRNPUL1_uc010ehm.2_Silent_p.L234L|HNRNPUL1_uc002oqc.3_Silent_p.L191L|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.L134L|HNRNPUL1_uc010ehn.2_Silent_p.L134L|HNRNPUL1_uc010eho.2_Silent_p.L134L|HNRNPUL1_uc010xvy.1_Silent_p.L134L|HNRNPUL1_uc010ehp.2_Silent_p.L90L|HNRNPUL1_uc010ehl.1_Silent_p.L134L	p.L234L	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			5	991	+			234			B30.2/SPRY.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Silent	SNP	ENST00000392006.3	37	c.702C>T	CCDS12576.1																																																																																				0.517	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1		NM_144732, NM_007040		101	138	0	0	0	0.00361	0	101	138		
PPP5C	5536	broad.mit.edu	37	19	46888119	46888119	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:46888119T>C	ENST00000012443.4	+	7	960	c.857T>C	c.(856-858)cTt>cCt	p.L286P	PPP5C_ENST00000391919.1_Missense_Mutation_p.L158P|AC007193.9_ENST00000599645.1_RNA	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	286	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ATCCTCACCCTTTTCGGCTTC	0.527																																						uc002pem.2		NaN																	0				lung(1)|pancreas(1)	2						c.(856-858)CTT>CCT		protein phosphatase 5, catalytic subunit							130.0	108.0	116.0					19																	46888119		2203	4300	6503	SO:0001583	missense	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46888119T>C		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.857T>C	19.37:g.46888119T>C	ENSP00000012443:p.Leu286Pro					PPP5C_uc010xya.1_Missense_Mutation_p.L153P|PPP5C_uc002pen.2_Missense_Mutation_p.L264P|PPP5C_uc010xyb.1_Missense_Mutation_p.L144P	p.L286P	NM_006247	NP_006238	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	7	917	+		Ovarian(192;0.0731)|all_neural(266;0.196)	286			Catalytic.		Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	c.857T>C	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156875	0.78114	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.14144	2.53;2.53	4.59	4.59	0.56863	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.144822	0.46758	D	0.000266	T	0.59197	0.2176	H	0.99937	4.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.77413	-0.2597	10	0.87932	D	0	-8.0808	11.9499	0.52948	0.0:0.0:0.0:1.0	.	144;286;286	B7Z1I1;B2R6R6;P53041	.;.;PPP5_HUMAN	P	286;273;158	ENSP00000012443:L286P;ENSP00000375786:L158P	ENSP00000012443:L286P	L	+	2	0	PPP5C	51579959	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.482000	0.81143	1.706000	0.51276	0.402000	0.26972	CTT		0.527	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2		NM_006247		3	139	0	0	0	0.000602	0	3	139		
ZNF83	55769	broad.mit.edu	37	19	53116283	53116283	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:53116283G>C	ENST00000597597.1	-	2	3788	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Missense_Mutation_p.S512C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.S512C|ZNF83_ENST00000544146.1_Missense_Mutation_p.S512C|ZNF83_ENST00000391789.4_Missense_Mutation_p.S484C|ZNF83_ENST00000541777.2_Missense_Mutation_p.S512C|ZNF83_ENST00000536937.1_Missense_Mutation_p.S512C|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ACATGTGTTAGATTTCTTTCC	0.348																																						uc002pzu.3		NaN																	0				ovary(1)	1						c.(1534-1536)TCT>TGT		zinc finger protein 83 isoform a							66.0	65.0	66.0					19																	53116283		2203	4300	6503	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116283G>C	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1535C>G	19.37:g.53116283G>C	ENSP00000472619:p.Ser512Cys					ZNF83_uc002pzv.3_Missense_Mutation_p.S512C|ZNF83_uc010eps.2_Missense_Mutation_p.S484C|ZNF83_uc010ept.2_Missense_Mutation_p.S512C|ZNF83_uc010epu.2_Missense_Mutation_p.S512C|ZNF83_uc010epv.2_Missense_Mutation_p.S512C|ZNF83_uc010epw.2_Missense_Mutation_p.S512C|ZNF83_uc010epx.2_Missense_Mutation_p.S484C|ZNF83_uc010epy.2_Missense_Mutation_p.S512C|ZNF83_uc010epz.2_Missense_Mutation_p.S484C	p.S512C	NM_018300	NP_060770	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2779	-			512					A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.1535C>G	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	-	11.26	1.587162	0.28268	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.09445	3.01;3.01;3.01;3.01;3.01;2.98	2.06	2.06	0.26882	Zinc finger, C2H2 (1);	.	.	.	.	T	0.15912	0.0383	L	0.54323	1.7	0.09310	N	0.999998	D;P	0.55605	0.972;0.79	P;B	0.47705	0.555;0.338	T	0.10200	-1.0640	9	0.87932	D	0	.	11.1309	0.48347	0.0:0.0:1.0:0.0	.	484;512	P51522-2;P51522	.;ZNF83_HUMAN	C	512;512;512;484;512;512;484	ENSP00000445993:S512C;ENSP00000301096:S512C;ENSP00000445470:S512C;ENSP00000440713:S512C;ENSP00000439681:S512C;ENSP00000375666:S484C	ENSP00000301096:S512C	S	-	2	0	ZNF83	57808095	0.851000	0.29673	0.001000	0.08648	0.009000	0.06853	3.597000	0.54031	1.126000	0.42016	0.205000	0.17691	TCT		0.348	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1		NM_018300		44	75	0	0	0	0.00361	0	44	75		
ZNF71	58491	broad.mit.edu	37	19	57133450	57133450	+	Silent	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:57133450C>G	ENST00000328070.6	+	3	1029	c.795C>G	c.(793-795)acC>acG	p.T265T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACGCACACCGGGGAGAAGC	0.672																																						uc002qnm.3		NaN																	0				skin(1)	1						c.(793-795)ACC>ACG		zinc finger protein 71							51.0	53.0	52.0					19																	57133450		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133450C>G	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.795C>G	19.37:g.57133450C>G							p.T265T	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1033	+			265					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.795C>G	CCDS12947.1																																																																																				0.672	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2		NM_021216		20	94	0	0	0	0.010504	0	20	94		
ZNF749	388567	broad.mit.edu	37	19	57955885	57955885	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:57955885C>G	ENST00000334181.4	+	3	1619	c.1369C>G	c.(1369-1371)Cag>Gag	p.Q457E	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q457E(1)|p.Q370E(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCACCAGAAAATCCA	0.423																																						uc002qoq.2		NaN																	2	Substitution - Missense(2)		endometrium(2)		0						c.(1369-1371)CAG>GAG		zinc finger protein 749							92.0	89.0	90.0					19																	57955885		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955885C>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1369C>G	19.37:g.57955885C>G	ENSP00000333980:p.Gln457Glu					ZNF547_uc002qpm.3_Intron	p.Q457E	NM_001023561	NP_001018855	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1623	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	457			C2H2-type 10.			Missense_Mutation	SNP	ENST00000334181.4	37	c.1369C>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410685	0.25465	.	.	ENSG00000186230	ENST00000334181	T	0.07327	3.2	1.62	0.523	0.17060	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	L	0.38649	1.16	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.33904	-0.9850	9	0.52906	T	0.07	.	5.9852	0.19430	0.5886:0.4114:0.0:0.0	.	457	O43361	ZN749_HUMAN	E	457	ENSP00000333980:Q457E	ENSP00000333980:Q457E	Q	+	1	0	ZNF749	62647697	.	.	0.001000	0.08648	0.750000	0.42670	.	.	0.202000	0.20498	0.650000	0.86243	CAG		0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1		NM_001023561		3	151	0	0	0	0.009096	0	3	151		
GEN1	348654	broad.mit.edu	37	2	17961316	17961316	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:17961316G>C	ENST00000381254.2	+	13	1550	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.E446Q	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	446					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCATTGTTTGAAGCAGCATA	0.303								Homologous recombination																														uc002rct.2		NaN																	0				breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8						c.(1336-1338)GAA>CAA	Homologous_recombination	Gen homolog 1, endonuclease							62.0	64.0	63.0					2																	17961316		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17961316G>C	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1336G>C	2.37:g.17961316G>C	ENSP00000370653:p.Glu446Gln					SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E446Q|GEN1_uc002rcu.2_Missense_Mutation_p.E446Q	p.E446Q	NM_182625	NP_872431	Q17RS7	GEN_HUMAN			13	1409	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		446					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.1336G>C	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	9.550	1.115720	0.20795	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	T;T;T	0.43294	1.82;1.82;0.95	5.05	1.97	0.26223	.	0.517350	0.18675	N	0.134339	T	0.29620	0.0739	L	0.52573	1.65	0.29761	N	0.835547	P	0.36144	0.539	B	0.28709	0.093	T	0.15492	-1.0435	10	0.28530	T	0.3	-8.766	8.5631	0.33523	0.0905:0.4757:0.4338:0.0	.	446	Q17RS7	GEN_HUMAN	Q	446;446;217;83	ENSP00000318977:E446Q;ENSP00000370653:E446Q;ENSP00000431542:E217Q	ENSP00000318977:E446Q	E	+	1	0	GEN1	17824797	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	2.570000	0.45981	0.764000	0.33197	0.585000	0.79938	GAA		0.303	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2		NM_182625		52	6	0	0	0	0.00361	0	52	6		
PUM2	23369	broad.mit.edu	37	2	20508104	20508104	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:20508104C>G	ENST00000361078.2	-	5	782	c.760G>C	c.(760-762)Ggc>Cgc	p.G254R	PUM2_ENST00000536417.1_Missense_Mutation_p.G198R|PUM2_ENST00000319801.5_Missense_Mutation_p.G254R|PUM2_ENST00000338086.5_Missense_Mutation_p.G254R|PUM2_ENST00000420234.1_5'Flank|PUM2_ENST00000403432.1_Missense_Mutation_p.G254R			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	254	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAAAAGGCCTACAGTAGCT	0.433																																						uc002rds.1		NaN																	0				ovary(1)	1						c.(760-762)GGC>CGC		pumilio homolog 2							64.0	63.0	63.0					2																	20508104		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20508104C>G	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.760G>C	2.37:g.20508104C>G	ENSP00000354370:p.Gly254Arg					PUM2_uc002rdt.1_Missense_Mutation_p.G254R|PUM2_uc002rdr.2_Missense_Mutation_p.G193R|PUM2_uc010yjy.1_Missense_Mutation_p.G254R|PUM2_uc002rdu.1_Missense_Mutation_p.G254R|PUM2_uc010yjz.1_Missense_Mutation_p.G193R	p.G254R	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			5	783	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		254			Interaction with SNAPIN.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.760G>C		.	.	.	.	.	.	.	.	.	.	C	26.3	4.727828	0.89390	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.21191	2.18;2.45;2.41;2.02;2.18;2.18	6.03	6.03	0.97812	.	0.044253	0.85682	D	0.000000	T	0.40094	0.1103	L	0.50333	1.59	0.80722	D	1	P;P;D	0.67145	0.947;0.89;0.996	P;B;D	0.72075	0.883;0.331;0.976	T	0.03473	-1.1033	10	0.56958	D	0.05	-7.5579	13.7763	0.63055	0.0:0.9303:0.0:0.0697	.	198;254;254	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	R	254;254;254;145;254;198;254	ENSP00000338173:G254R;ENSP00000354370:G254R;ENSP00000326746:G254R;ENSP00000409905:G145R;ENSP00000385992:G254R;ENSP00000440093:G198R	ENSP00000326746:G254R	G	-	1	0	PUM2	20371585	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.088000	0.71371	2.886000	0.99085	0.644000	0.83932	GGC		0.433	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015317		111	22	0	0	0	0.00361	0	111	22		
XPO1	7514	broad.mit.edu	37	2	61706062	61706062	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:61706062C>G	ENST00000401558.2	-	25	3836	c.3109G>C	c.(3109-3111)Gag>Cag	p.E1037Q	RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603652.1_RNA|RP11-355B11.2_ENST00000603028.1_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.E1037Q|XPO1_ENST00000406957.1_Missense_Mutation_p.E1037Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	1037					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ATTTCTCTCTCTTCCAAAAAC	0.388			Mis		CLL																																	uc002sbj.2		NaN	-'	Dom	yes		2	2p15	7514		"""exportin 1 (CRM1 homolog, yeast)"""			L					0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4						c.(3109-3111)GAG>CAG		exportin 1							118.0	118.0	118.0					2																	61706062		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61706062C>G	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.3109G>C	2.37:g.61706062C>G	ENSP00000384863:p.Glu1037Gln					XPO1_uc010fcl.2_Missense_Mutation_p.E1033Q|XPO1_uc010ypn.1_Missense_Mutation_p.E1033Q|XPO1_uc002sbk.2_Missense_Mutation_p.E598Q|XPO1_uc002sbg.2_Missense_Mutation_p.E234Q|XPO1_uc002sbh.2_Missense_Mutation_p.E684Q	p.E1037Q	NM_003400	NP_003391	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		25	3837	-			1037			HEAT 10.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.3109G>C	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380750	0.61845	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.72	5.72	0.89469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	M	0.82517	2.595	0.80722	D	1	P;P	0.39847	0.688;0.691	B;B	0.32465	0.146;0.143	T	0.73464	-0.3974	9	0.66056	D	0.02	-18.4858	19.8731	0.96858	0.0:1.0:0.0:0.0	.	684;1037	B3KWD0;O14980	.;XPO1_HUMAN	Q	1037	.	ENSP00000384863:E1037Q	E	-	1	0	XPO1	61559566	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.784000	0.85713	2.690000	0.91761	0.655000	0.94253	GAG		0.388	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3		NM_003400		52	44	0	0	0	0.00361	0	52	44		
STARD7	56910	broad.mit.edu	37	2	96859074	96859074	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:96859074C>G	ENST00000337288.5	-	4	949	c.566G>C	c.(565-567)aGa>aCa	p.R189T	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	189	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CCATTTTTTTCTATACTCTGT	0.443																																						uc002svm.3		NaN																	0					0						c.(565-567)AGA>ACA		START domain containing 7 precursor							107.0	100.0	102.0					2																	96859074		2203	4300	6503	SO:0001583	missense	56910					mitochondrion		g.chr2:96859074C>G	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.566G>C	2.37:g.96859074C>G	ENSP00000338030:p.Arg189Thr					STARD7_uc002svl.2_5'UTR	p.R189T	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN			4	967	-			189			START.		D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	ENST00000337288.5	37	c.566G>C	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879348	0.91740	.	.	ENSG00000084090	ENST00000337288;ENST00000443962	T;T	0.41065	1.01;1.01	5.91	5.91	0.95273	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75294	-0.3368	10	0.62326	D	0.03	-19.3037	17.7923	0.88558	0.0:1.0:0.0:0.0	.	189	Q9NQZ5	STAR7_HUMAN	T	189;88	ENSP00000338030:R189T;ENSP00000409410:R88T	ENSP00000338030:R189T	R	-	2	0	STARD7	96222801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.217000	0.77982	2.793000	0.96121	0.655000	0.94253	AGA		0.443	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2				43	95	0	0	0	0.00361	0	43	95		
BUB1	699	broad.mit.edu	37	2	111413469	111413469	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:111413469A>C	ENST00000302759.6	-	16	1841	c.1723T>G	c.(1723-1725)Ttt>Gtt	p.F575V	BUB1_ENST00000409311.1_Missense_Mutation_p.F575V|BUB1_ENST00000535254.1_Missense_Mutation_p.F555V	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	575					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TCATCCAAAAACTCTTCAGCA	0.438																																						uc002tgc.2		NaN																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(1723-1725)TTT>GTT		budding uninhibited by benzimidazoles 1							218.0	214.0	216.0					2																	111413469		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111413469A>C	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1723T>G	2.37:g.111413469A>C	ENSP00000302530:p.Phe575Val					BUB1_uc010yxh.1_Missense_Mutation_p.F555V|BUB1_uc010fkb.2_Missense_Mutation_p.F575V	p.F575V	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	16	1835	-		Ovarian(717;0.0822)	575					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.1723T>G	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.457354	0.43634	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.30448	2.27;1.53;2.53	5.73	1.79	0.24919	.	0.468088	0.25704	N	0.028846	T	0.23054	0.0557	L	0.56769	1.78	0.33996	D	0.649746	B;B;B	0.28258	0.205;0.196;0.1	B;B;B	0.21151	0.033;0.021;0.022	T	0.17868	-1.0355	10	0.35671	T	0.21	-11.9878	5.0073	0.14295	0.7046:0.0:0.1581:0.1372	.	555;575;575	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	V	555;575;575;575	ENSP00000441013:F555V;ENSP00000386701:F575V;ENSP00000302530:F575V	ENSP00000302530:F575V	F	-	1	0	BUB1	111129942	0.359000	0.24955	0.902000	0.35471	0.990000	0.78478	0.697000	0.25556	0.994000	0.38892	0.533000	0.62120	TTT		0.438	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1		NM_004336		7	228	0	0	0	0.004482	0	7	228		
MYO7B	4648	broad.mit.edu	37	2	128389955	128389955	+	Missense_Mutation	SNP	G	G	A	rs201947315	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:128389955G>A	ENST00000409816.2	+	37	5338	c.5306G>A	c.(5305-5307)cGc>cAc	p.R1769H	MYO7B_ENST00000409090.1_Missense_Mutation_p.R622H|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1769H|MYO7B_ENST00000389524.4_Missense_Mutation_p.R1770H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1769	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GACTGCAGCCGCCGAATCCAG	0.682													G|||	3	0.000599042	0.0008	0.0029	5008	,	,		15447	0.0		0.0	False		,,,				2504	0.0					uc002top.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(5305-5307)CGC>CAC		myosin VIIB		G	HIS/ARG	1,3429		0,1,1714	42.0	49.0	47.0		5306	4.0	0.9	2		47	1,7701		0,1,3850	no	missense	MYO7B	NM_001080527.1	29	0,2,5564	AA,AG,GG		0.013,0.0292,0.018	benign	1769/2117	128389955	2,11130	1715	3851	5566	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128389955G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5306G>A	2.37:g.128389955G>A	ENSP00000386461:p.Arg1769His					MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	p.R1769H	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	38	5359	+	Colorectal(110;0.1)		1769			MyTH4 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5306G>A	CCDS46405.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	12.81	2.049753	0.36181	2.92E-4	1.3E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.84	3.96	0.45880	MyTH4 domain (3);	0.136945	0.50627	D	0.000108	D	0.93093	0.7801	L	0.52126	1.63	0.32217	N	0.575746	D	0.76494	0.999	D	0.69142	0.962	D	0.91856	0.5495	10	0.34782	T	0.22	.	9.4482	0.38710	0.163:0.0:0.837:0.0	.	1769	Q6PIF6	MYO7B_HUMAN	H	1770;1769;865;1769;622	ENSP00000374175:R1770H;ENSP00000415090:R1769H;ENSP00000386461:R1769H;ENSP00000386850:R622H	ENSP00000272666:R865H	R	+	2	0	MYO7B	128106425	1.000000	0.71417	0.934000	0.37439	0.036000	0.12997	3.889000	0.56212	1.025000	0.39708	0.561000	0.74099	CGC		0.682	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3		XM_291001		31	79	0	0	0	0.006999	0	31	79		
MBD5	55777	broad.mit.edu	37	2	149226442	149226442	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:149226442G>C	ENST00000407073.1	+	9	1927	c.930G>C	c.(928-930)atG>atC	p.M310I	MBD5_ENST00000404807.1_Missense_Mutation_p.M310I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	310					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTCCAGTAATGAAAAAACCAA	0.448																																						uc002twm.3		NaN																	0				skin(3)|ovary(2)	5						c.(928-930)ATG>ATC		methyl-CpG binding domain protein 5							64.0	63.0	64.0					2																	149226442		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149226442G>C	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.930G>C	2.37:g.149226442G>C	ENSP00000386049:p.Met310Ile					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.M310I|MBD5_uc002twn.1_5'Flank	p.M310I	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	1918	+			310					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.930G>C	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.82|11.82	1.752723|1.752723	0.31046|0.31046	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|.	0.42131|.	0.98;0.98|.	5.35|5.35	4.41|4.41	0.53225|0.53225	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.38374|.	0.1038|.	N|N	0.14661|0.14661	0.345|0.345	0.53005|0.53005	D|D	0.999969|0.999969	B|.	0.29552|.	0.248|.	B|.	0.32090|.	0.14|.	T|.	0.11792|.	-1.0573|.	10|.	0.34782|.	T|.	0.22|.	-5.5693|-5.5693	9.3659|9.3659	0.38223|0.38223	0.0755:0.1456:0.7789:0.0|0.0755:0.1456:0.7789:0.0	.|.	310|.	Q9P267|.	MBD5_HUMAN|.	I|S	310|50	ENSP00000386049:M310I;ENSP00000384672:M310I|.	ENSP00000384672:M310I|.	M|X	+|+	3|2	0|2	MBD5|MBD5	148942912|148942912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.368000|5.368000	0.66133|0.66133	2.668000|2.668000	0.90789|0.90789	0.655000|0.655000	0.94253|0.94253	ATG|TGA		0.448	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2				23	73	0	0	0	0.004656	0	23	73		
TTN	7273	broad.mit.edu	37	2	179411950	179411950	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179411950G>A	ENST00000591111.1	-	290	89603	c.89379C>T	c.(89377-89379)caC>caT	p.H29793H	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.H22369H|TTN_ENST00000359218.5_Silent_p.H22494H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.H31434H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.H28866H|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.H22561H|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29793	Fibronectin type-III 117. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCACCATCGTGGTAGGGTT	0.443																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(86596-86598)CAC>CAT		titin isoform N2-A							176.0	175.0	175.0					2																	179411950		1913	4116	6029	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411950G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89379C>T	2.37:g.179411950G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.H22561H|TTN_uc010zfi.1_Silent_p.H22494H|TTN_uc010zfj.1_Silent_p.H22369H	p.H28866H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		289	86822	-			29793					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.86598C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		8	225	0	0	0	0.004482	0	8	225		
TTN	7273	broad.mit.edu	37	2	179556797	179556797	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179556797C>G	ENST00000591111.1	-	119	30981	c.30757G>C	c.(30757-30759)Gag>Cag	p.E10253Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E10570Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9326Q|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTCTCCTCTGGCACGGGT	0.453																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(27976-27978)GAG>CAG		titin isoform N2-A							103.0	98.0	99.0					2																	179556797		1843	4106	5949	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179556797C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30757G>C	2.37:g.179556797C>G	ENSP00000465570:p.Glu10253Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5987Q|TTN_uc010fre.1_Missense_Mutation_p.E437Q	p.E9326Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		118	28200	-			10253					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.27976G>C		.	.	.	.	.	.	.	.	.	.	C	18.83	3.706823	0.68615	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.71934	-0.61	5.43	5.43	0.79202	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.86686	0.5992	M	0.87269	2.87	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.80764	0.815;0.994	D	0.88736	0.3240	9	0.87932	D	0	.	18.8514	0.92232	0.0:1.0:0.0:0.0	.	10253;10253	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	Q	9326;448;80	ENSP00000343764:E9326Q	ENSP00000343764:E9326Q	E	-	1	0	TTN	179265042	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	3.951000	0.56684	2.556000	0.86216	0.557000	0.71058	GAG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		12	35	0	0	0	0.001855	0	12	35		
TTN	7273	broad.mit.edu	37	2	179582433	179582433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179582433G>A	ENST00000591111.1	-	85	24441	c.24217C>T	c.(24217-24219)Caa>Taa	p.Q8073*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q8390*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q7146*|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12262	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGACACTTGAAGAGGTTCT	0.398																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(21436-21438)CAA>TAA		titin isoform N2-A							45.0	43.0	44.0					2																	179582433		1864	4100	5964	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582433G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24217C>T	2.37:g.179582433G>A	ENSP00000465570:p.Gln8073*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q3807*	p.Q7146*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		84	21660	-			8073					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.21436C>T		.	.	.	.	.	.	.	.	.	.	G	59	35.399660	0.99982	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.87	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5628	0.76262	0.0:0.2609:0.7391:0.0	.	.	.	.	X	7146	.	ENSP00000343764:Q7146X	Q	-	1	0	TTN	179290678	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	1.595000	0.36708	1.593000	0.50029	0.655000	0.94253	CAA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		14	17	0	0	0	0.003163	0	14	17		
TTN	7273	broad.mit.edu	37	2	179590304	179590304	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179590304G>T	ENST00000591111.1	-	69	19900	c.19676C>A	c.(19675-19677)tCc>tAc	p.S6559Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S6876Y|TTN_ENST00000342992.6_Missense_Mutation_p.S5632Y|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12162	Ig-like 47.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTTCTATGGATGCTTGTAA	0.423																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16894-16896)TCC>TAC		titin isoform N2-A							96.0	88.0	91.0					2																	179590304		1848	4103	5951	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590304G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19676C>A	2.37:g.179590304G>T	ENSP00000465570:p.Ser6559Tyr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2293Y	p.S5632Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	17119	-			6559					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16895C>A		.	.	.	.	.	.	.	.	.	.	G	10.25	1.299607	0.23650	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.86	4.07	0.47477	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50820	0.1638	L	0.38175	1.15	0.58432	D	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.52124	-0.8617	9	0.87932	D	0	.	2.327	0.04225	0.2073:0.1449:0.5149:0.1329	.	6559	Q8WZ42	TITIN_HUMAN	Y	5632	ENSP00000343764:S5632Y	ENSP00000343764:S5632Y	S	-	2	0	TTN	179298549	0.155000	0.22806	1.000000	0.80357	0.987000	0.75469	0.601000	0.24119	0.931000	0.37242	0.650000	0.86243	TCC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		25	29	1	0	1.66031e-10	0.003954	1.71497e-10	25	29		
SP100	6672	broad.mit.edu	37	2	231281027	231281027	+	Missense_Mutation	SNP	G	G	A	rs151275724	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:231281027G>A	ENST00000264052.5	+	1	371	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	SP100_ENST00000427101.2_Missense_Mutation_p.G6S|SP100_ENST00000409112.1_Missense_Mutation_p.G6S|SP100_ENST00000341950.4_Missense_Mutation_p.G6S|SP100_ENST00000340126.4_Missense_Mutation_p.G6S|SP100_ENST00000409341.1_Missense_Mutation_p.G6S|SP100_ENST00000409897.1_5'Flank|SP100_ENST00000409824.1_Missense_Mutation_p.G6S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	6	Poly-Gly.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGTGGGGGCGGCGACCTGAG	0.592													G|||	5	0.000998403	0.0	0.0	5008	,	,		16512	0.005		0.0	False		,,,				2504	0.0					uc002vqt.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(16-18)GGC>AGC		nuclear antigen Sp100 isoform 2							93.0	82.0	86.0					2																	231281027		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231281027G>A	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.16G>A	2.37:g.231281027G>A	ENSP00000264052:p.Gly6Ser					SP100_uc002vqs.2_Missense_Mutation_p.G6S|SP100_uc002vqu.1_Missense_Mutation_p.G6S|SP100_uc010zmb.1_Missense_Mutation_p.G6S|SP100_uc002vqq.1_Missense_Mutation_p.G6S|SP100_uc002vqr.1_Missense_Mutation_p.G6S|SP100_uc010zmc.1_Missense_Mutation_p.G6S|SP100_uc002vqv.1_5'Flank	p.G6S	NM_003113	NP_003104	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	1	157	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	6			Poly-Gly.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.16G>A	CCDS2477.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	0.132	-1.112429	0.01799	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950	T;T;T;T;T;T;T;T	0.78924	2.46;2.54;1.13;2.54;2.29;-1.22;0.37;2.26	2.8	-5.6	0.02497	.	.	.	.	.	T	0.48624	0.1510	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.21381	0.055;0.002;0.003;0.01;0.003;0.023;0.006	B;B;B;B;B;B;B	0.12837	0.008;0.0;0.0;0.001;0.0;0.002;0.0	T	0.34054	-0.9844	9	0.18276	T	0.48	.	4.5811	0.12259	0.3185:0.338:0.3435:0.0	.	6;6;6;6;6;6;6	F8WFE2;B4E2B9;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;SP100_HUMAN;.;.;.	S	6	ENSP00000264052:G6S;ENSP00000399389:G6S;ENSP00000391616:G6S;ENSP00000387311:G6S;ENSP00000386404:G6S;ENSP00000386427:G6S;ENSP00000343023:G6S;ENSP00000342729:G6S	ENSP00000264052:G6S	G	+	1	0	SP100	230989271	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.273000	0.00531	-1.251000	0.02494	-1.512000	0.00943	GGC		0.592	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2		NM_003113		6	23	0	0	0	0.004482	0	6	23		
FARP2	9855	broad.mit.edu	37	2	242433449	242433449	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:242433449G>A	ENST00000264042.3	+	27	3244	c.3074G>A	c.(3073-3075)aGc>aAc	p.S1025N	STK25_ENST00000478403.1_5'Flank|STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1025	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGGGGGCCAGCAGCTCAGCC	0.632																																						uc002wbi.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(3073-3075)AGC>AAC		FERM, RhoGEF and pleckstrin domain protein 2							48.0	52.0	51.0					2																	242433449		2202	4297	6499	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242433449G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.3074G>A	2.37:g.242433449G>A	ENSP00000264042:p.Ser1025Asn						p.S1025N	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	27	3191	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	1025			PH 2.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.3074G>A	CCDS33424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.113169|3.113169	0.56398|0.56398	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000444371;ENST00000412332|ENST00000264042	.|T	.|0.76578	.|-1.03	4.58|4.58	3.63|3.63	0.41609|0.41609	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.109458	.|0.64402	.|D	.|0.000007	T|T	0.69097|0.69097	0.3073|0.3073	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|P	.|0.39717	.|0.684	.|B	.|0.37780	.|0.258	T|T	0.74222|0.74222	-0.3735|-0.3735	5|10	.|0.87932	.|D	.|0	.|.	10.7983|10.7983	0.46474|0.46474	0.0:0.3627:0.6373:0.0|0.0:0.3627:0.6373:0.0	.|.	.|1025	.|O94887	.|FARP2_HUMAN	T|N	168;27|1025	.|ENSP00000264042:S1025N	.|ENSP00000264042:S1025N	A|S	+|+	1|2	0|0	FARP2|FARP2	242082122|242082122	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.121000|0.121000	0.20230|0.20230	5.185000|5.185000	0.65076|0.65076	2.276000|2.276000	0.75962|0.75962	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.632	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1				30	65	0	0	0	0.009535	0	30	65		
RALGAPA2	57186	broad.mit.edu	37	20	20506951	20506951	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:20506951G>C	ENST00000202677.7	-	28	3645	c.3638C>G	c.(3637-3639)tCc>tGc	p.S1213C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1213					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTCCCAGTAGGAAACCAGCAA	0.408																																						uc002wrz.2		NaN																	0				ovary(1)	1						c.(3637-3639)TCC>TGC		akt substrate AS250							41.0	40.0	41.0					20																	20506951		1871	4109	5980	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20506951G>C	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3638C>G	20.37:g.20506951G>C	ENSP00000202677:p.Ser1213Cys					RALGAPA2_uc010gcx.2_Missense_Mutation_p.S917C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S661C|RALGAPA2_uc002wsa.1_5'UTR	p.S1213C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			28	3781	-			1213					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3638C>G	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.649514|4.649514	0.87958|0.87958	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|T	.|0.68765	.|-0.35	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.055713	.|0.64402	.|D	.|0.000001	T|T	0.78246|0.78246	0.4253|0.4253	M|M	0.68317|0.68317	2.08|2.08	0.52099|0.52099	D|D	0.99994|0.99994	.|D;D	.|0.63880	.|0.993;0.993	.|P;P	.|0.58928	.|0.848;0.848	T|T	0.77515|0.77515	-0.2559|-0.2559	5|10	.|0.45353	.|T	.|0.12	.|.	18.2973|18.2973	0.90151|0.90151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1051;1213	.|A8MSM5;Q2PPJ7	.|.;RGPA2_HUMAN	A|C	1030|1213	.|ENSP00000202677:S1213C	.|ENSP00000202677:S1213C	P|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20454951|20454951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	6.650000|6.650000	0.74368|0.74368	2.728000|2.728000	0.93425|0.93425	0.561000|0.561000	0.74099|0.74099	CCT|TCC		0.408	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1		NM_020343		9	31	0	0	0	0.001368	0	9	31		
ZNF337	26152	broad.mit.edu	37	20	25656896	25656896	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:25656896G>C	ENST00000376436.1	-	4	1567	c.1028C>G	c.(1027-1029)tCa>tGa	p.S343*	ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Nonsense_Mutation_p.S343*|ZNF337_ENST00000538750.1_Nonsense_Mutation_p.S311*|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	343					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCTCTCCTGAGTGTATTCT	0.498																																						uc002wva.2		NaN																	0					0						c.(1027-1029)TCA>TGA		zinc finger protein 337							79.0	70.0	73.0					20																	25656896		2203	4300	6503	SO:0001587	stop_gained	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25656896G>C		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1028C>G	20.37:g.25656896G>C	ENSP00000365619:p.Ser343*					uc002wuz.2_RNA|ZNF337_uc010ztg.1_Nonsense_Mutation_p.S311*|ZNF337_uc002wvb.2_Nonsense_Mutation_p.S343*|ZNF337_uc002wvc.2_Nonsense_Mutation_p.S343*	p.S343*	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	1550	-			343					B4DSM2|Q9Y3Y5	Nonsense_Mutation	SNP	ENST00000376436.1	37	c.1028C>G	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	36	5.922810	0.97110	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	.	.	.	1.34	0.246	0.15516	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.1181	0.25429	0.0:0.2849:0.7151:0.0	.	.	.	.	X	343;343;343;311	.	ENSP00000252979:S343X	S	-	2	0	ZNF337	25604896	0.068000	0.21057	0.003000	0.11579	0.986000	0.74619	0.037000	0.13840	0.100000	0.17581	0.306000	0.20318	TCA		0.498	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1				35	53	0	0	0	0.003755	0	35	53		
NCOA6	23054	broad.mit.edu	37	20	33364214	33364214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:33364214C>T	ENST00000374796.2	-	5	2843	c.273G>A	c.(271-273)tgG>tgA	p.W91*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.W91*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	91	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCACGCTGTTCCAGGGCTCCA	0.473																																						uc002xav.2		NaN																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(271-273)TGG>TGA		nuclear receptor coactivator 6							100.0	94.0	96.0					20																	33364214		2203	4300	6503	SO:0001587	stop_gained	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33364214C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.273G>A	20.37:g.33364214C>T	ENSP00000363929:p.Trp91*					NCOA6_uc002xaw.2_Nonsense_Mutation_p.W91*|NCOA6_uc010gew.1_Nonsense_Mutation_p.W91*	p.W91*	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			5	2844	-			91			TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	ENST00000374796.2	37	c.273G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	55	23.835967	0.99957	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	.	.	.	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4555	20.3242	0.98691	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000351894:W91X	W	-	3	0	NCOA6	32827875	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.776000	0.85560	2.882000	0.98803	0.655000	0.94253	TGG		0.473	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071		39	64	0	0	0	0.013114	0	39	64		
PHF20	51230	broad.mit.edu	37	20	34526618	34526618	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:34526618G>T	ENST00000374012.3	+	16	2429		c.e16-1		PHF20_ENST00000439301.1_Splice_Site			Q9BVI0	PHF20_HUMAN	PHD finger protein 20						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCTCTCAACAGAAGCCGGGAG	0.542																																						uc002xek.1		NaN																	0				ovary(1)	1						c.e16-1		PHD finger protein 20							118.0	126.0	123.0					20																	34526618		2202	4300	6502	SO:0001630	splice_region_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34526618G>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2301-1G>T	20.37:g.34526618G>T							p.Q767_splice	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			16	2412	+	Breast(12;0.00631)|all_lung(11;0.0145)							A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Splice_Site	SNP	ENST00000374012.3	37	c.2301_splice	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922788	0.73213	.	.	ENSG00000025293	ENST00000374012	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF20	33990032	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.595000	0.90840	2.840000	0.97914	0.655000	0.94253	.		0.542	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436	Intron	148	247	1	0	4.89347e-83	0.00361	5.38711e-83	148	247		
PHF20	51230	broad.mit.edu	37	20	34526935	34526935	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:34526935G>A	ENST00000374012.3	+	16	2746	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	873					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCCCCTCCATGAGAACGGCGA	0.632																																						uc002xek.1		NaN																	0				ovary(1)	1						c.(2617-2619)GAG>AAG		PHD finger protein 20							59.0	51.0	54.0					20																	34526935		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34526935G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2617G>A	20.37:g.34526935G>A	ENSP00000363124:p.Glu873Lys						p.E873K	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			16	2728	+	Breast(12;0.00631)|all_lung(11;0.0145)		873					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.2617G>A	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865107	0.91511	.	.	ENSG00000025293	ENST00000374012	T	0.35789	1.29	5.72	5.72	0.89469	.	0.140429	0.64402	D	0.000004	T	0.55497	0.1924	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.55250	-0.8170	10	0.72032	D	0.01	.	15.4406	0.75178	0.0:0.1382:0.8618:0.0	.	873	Q9BVI0	PHF20_HUMAN	K	873	ENSP00000363124:E873K	ENSP00000363124:E873K	E	+	1	0	PHF20	33990349	1.000000	0.71417	0.977000	0.42913	0.870000	0.49936	4.557000	0.60782	2.715000	0.92844	0.549000	0.68633	GAG		0.632	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436		38	59	0	0	0	0.006999	0	38	59		
TRAPPC10	7109	broad.mit.edu	37	21	45479022	45479022	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr21:45479022C>T	ENST00000291574.4	+	6	892	c.717C>T	c.(715-717)ttC>ttT	p.F239F	TRAPPC10_ENST00000380221.3_Silent_p.F239F	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	239					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGCAGCAGTTCGAGGACGCCC	0.473																																						uc002zea.2		NaN																	0				ovary(1)|skin(1)	2						c.(715-717)TTC>TTT		trafficking protein particle complex 10							75.0	65.0	69.0					21																	45479022		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45479022C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.717C>T	21.37:g.45479022C>T						TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Silent_p.F239F	p.F239F	NM_003274	NP_003265	P48553	TPC10_HUMAN			6	886	+			239					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.717C>T	CCDS13704.1																																																																																				0.473	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274		22	51	0	0	0	0.008361	0	22	51		
PCNT	5116	broad.mit.edu	37	21	47768968	47768968	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr21:47768968G>C	ENST00000359568.5	+	7	1182	c.1075G>C	c.(1075-1077)Gaa>Caa	p.E359Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	359	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTATGTTTAGAAAATCTACG	0.323																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(1075-1077)GAA>CAA		pericentrin							90.0	103.0	99.0					21																	47768968		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47768968G>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1075G>C	21.37:g.47768968G>C	ENSP00000352572:p.Glu359Gln					PCNT_uc002zjj.2_Missense_Mutation_p.E241Q|PCNT_uc010gqk.1_RNA	p.E359Q	NM_006031	NP_006022	O95613	PCNT_HUMAN			7	1182	+	Breast(49;0.112)		359			Glu-rich.|Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1075G>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703672	0.48412	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01902	4.57	5.87	4.89	0.63831	.	0.521289	0.14408	N	0.321450	T	0.03220	0.0094	L	0.59436	1.845	0.09310	N	0.999998	P;P	0.44090	0.627;0.826	B;B	0.41813	0.367;0.341	T	0.44620	-0.9316	10	0.39692	T	0.17	.	4.2783	0.10820	0.1551:0.2352:0.6097:0.0	.	241;359	O95613-2;O95613	.;PCNT_HUMAN	Q	359;346	ENSP00000352572:E359Q	ENSP00000338675:E346Q	E	+	1	0	PCNT	46593396	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	1.895000	0.39778	2.822000	0.97130	0.632000	0.83419	GAA		0.323	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		41	112	0	0	0	0.00361	0	41	112		
CECR2	27443	broad.mit.edu	37	22	17976513	17976513	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:17976513G>C	ENST00000400573.5	+	3	241	c.234G>C	c.(232-234)ctG>ctC	p.L78L	CECR2_ENST00000342247.5_Silent_p.L58L|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000262608.8_Silent_p.L59L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	100					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAACCCTCTGAGGGAAGCCA	0.567																																						uc010gqw.1		NaN																	0				ovary(1)|skin(1)	2						c.(172-174)CTG>CTC		cat eye syndrome chromosome region, candidate 2							76.0	80.0	79.0					22																	17976513		2002	4172	6174	SO:0001819	synonymous_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:17976513G>C	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.234G>C	22.37:g.17976513G>C						CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	p.L58L	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	2	300	+		all_epithelial(15;0.139)	100					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400573.5	37	c.174G>C																																																																																					0.567	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316104.5		NM_031413		20	93	0	0	0	0.010504	0	20	93		
TRIOBP	11078	broad.mit.edu	37	22	38119384	38119384	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:38119384A>C	ENST00000406386.3	+	7	1076	c.821A>C	c.(820-822)gAa>gCa	p.E274A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	274					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCTACACGTGAAATCCCCAGA	0.592																																						uc003atr.2		NaN																	0				central_nervous_system(1)	1						c.(820-822)GAA>GCA		TRIO and F-actin binding protein isoform 6							89.0	104.0	99.0					22																	38119384		2097	4225	6322	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119384A>C	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.821A>C	22.37:g.38119384A>C	ENSP00000384312:p.Glu274Ala					TRIOBP_uc003atu.2_Missense_Mutation_p.E102A|TRIOBP_uc003atq.1_Missense_Mutation_p.E274A|TRIOBP_uc003ats.1_Missense_Mutation_p.E102A	p.E274A	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1092	+	Melanoma(58;0.0574)		274					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.821A>C	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	7.479	0.648230	0.14516	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24723	1.84	2.97	-3.42	0.04825	.	.	.	.	.	T	0.10337	0.0253	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.12156	0.007	T	0.41270	-0.9518	9	0.08837	T	0.75	.	10.2595	0.43419	0.313:0.0:0.687:0.0	.	274	Q9H2D6	TARA_HUMAN	A	274	ENSP00000384312:E274A	ENSP00000384312:E274A	E	+	2	0	TRIOBP	36449330	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.383000	0.20651	-0.926000	0.03770	-0.474000	0.04947	GAA		0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2				19	75	0	0	0	0.012319	0	19	75		
POLDIP3	84271	broad.mit.edu	37	22	42999052	42999052	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:42999052C>G	ENST00000252115.5	-	2	278	c.174G>C	c.(172-174)caG>caC	p.Q58H	POLDIP3_ENST00000491021.1_5'Flank|POLDIP3_ENST00000451060.2_5'Flank|POLDIP3_ENST00000348657.2_Missense_Mutation_p.Q58H|POLDIP3_ENST00000339677.6_Missense_Mutation_p.Q58H	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	58					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGCCAATCTTCTGCCGGGCAT	0.557																																					Ovarian(52;967 1128 5875 19997 42537)	uc003bcu.2		NaN																	0					0						c.(172-174)CAG>CAC		DNA polymerase delta interacting protein 3							88.0	87.0	87.0					22																	42999052		2203	4300	6503	SO:0001583	missense	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42999052C>G		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.174G>C	22.37:g.42999052C>G	ENSP00000252115:p.Gln58His					POLDIP3_uc011app.1_5'UTR|POLDIP3_uc003bcv.2_Missense_Mutation_p.Q58H|POLDIP3_uc011apq.1_Missense_Mutation_p.Q58H|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Missense_Mutation_p.Q58H	p.Q58H	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN			2	273	-			58					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	c.174G>C	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035719	0.35893	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000415122;ENST00000339677;ENST00000452567	.	.	.	6.08	1.17	0.20885	.	0.052718	0.85682	D	0.000000	T	0.75925	0.3916	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.997;0.999;0.999;0.997	T	0.76705	-0.2861	9	0.52906	T	0.07	-14.7393	14.7279	0.69357	0.0:0.7145:0.0:0.2855	.	58;58;58;58	B4E0L0;Q6R954;Q9BY77-2;Q9BY77	.;.;.;PDIP3_HUMAN	H	58	.	ENSP00000252115:Q58H	Q	-	3	2	POLDIP3	41328996	0.993000	0.37304	0.999000	0.59377	0.250000	0.25880	0.197000	0.17197	0.174000	0.19809	-1.937000	0.00501	CAG		0.557	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1		NM_032311		49	96	0	0	0	0.00361	0	49	96		
PARVB	29780	broad.mit.edu	37	22	44532339	44532339	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:44532339G>A	ENST00000338758.7	+	7	696		c.e7-1		PARVB_ENST00000404989.1_Splice_Site|PARVB_ENST00000406477.3_Splice_Site	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta						actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGGGTTTTCAGAAACGGGAAG	0.542																																						uc003ben.2		NaN																	0					0						c.e7-1		parvin, beta isoform b							86.0	72.0	77.0					22																	44532339		2203	4300	6503	SO:0001630	splice_region_variant	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44532339G>A	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.634-1G>A	22.37:g.44532339G>A						PARVB_uc003bem.2_Splice_Site_p.K245_splice|PARVB_uc010gzn.2_Splice_Site_p.K160_splice|PARVB_uc003beo.2_Splice_Site_p.K175_splice	p.K212_splice	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN			7	686	+		Ovarian(80;0.0246)|all_neural(38;0.0423)						B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Splice_Site	SNP	ENST00000338758.7	37	c.634_splice	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320057	0.60634	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0834	0.81020	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PARVB	42863672	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.591000	0.90824	2.137000	0.66172	0.655000	0.94253	.		0.542	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2		NM_001003828	Intron	25	69	0	0	0	0.005443	0	25	69		
HDAC10	83933	broad.mit.edu	37	22	50686355	50686355	+	Missense_Mutation	SNP	G	G	A	rs139748706		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:50686355G>A	ENST00000216271.5	-	13	1653	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A384V|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A414V|TUBGCP6_ENST00000439308.2_5'Flank	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	434					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGGCTGACGCTTCCTGTTG	0.652																																						uc003bkg.2		NaN																	0					0						c.(1300-1302)GCG>GTG		histone deacetylase 10 isoform 1		G	VAL/ALA,VAL/ALA	1,4403	2.1+/-5.4	0,1,2201	34.0	32.0	33.0		1241,1301	-1.6	0.5	22	dbSNP_134	33	0,8600		0,0,4300	no	missense,missense	HDAC10	NM_001159286.1,NM_032019.5	64,64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	414/650,434/670	50686355	1,13003	2202	4300	6502	SO:0001583	missense	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50686355G>A	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1301C>T	22.37:g.50686355G>A	ENSP00000216271:p.Ala434Val					TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Missense_Mutation_p.A160V|HDAC10_uc003bkf.2_Missense_Mutation_p.A160V|HDAC10_uc010hav.2_Missense_Mutation_p.A414V|HDAC10_uc003bkh.2_Missense_Mutation_p.A227V|HDAC10_uc003bki.2_Missense_Mutation_p.A384V|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_Missense_Mutation_p.A68V	p.A434V	NM_032019	NP_114408	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	13	1674	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	434					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	c.1301C>T	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	g	11.82	1.754133	0.31046	2.27E-4	0.0	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.29142	1.58;1.58;1.58	4.33	-1.61	0.08399	.	0.895523	0.09561	N	0.785508	T	0.10809	0.0264	N	0.08118	0	0.33422	D	0.580045	B;P;B;P;B	0.45283	0.014;0.658;0.105;0.855;0.093	B;B;B;B;B	0.34824	0.003;0.043;0.014;0.19;0.014	T	0.35051	-0.9804	10	0.30854	T	0.27	-6.4393	4.6268	0.12482	0.0:0.4929:0.1568:0.3503	.	414;424;384;434;434	Q969S8-2;E2QRD2;C9J8B8;Q969S8-4;Q969S8	.;.;.;.;HDA10_HUMAN	V	434;384;414	ENSP00000216271:A434V;ENSP00000397542:A384V;ENSP00000343540:A414V	ENSP00000216271:A434V	A	-	2	0	HDAC10	49028482	0.000000	0.05858	0.534000	0.28014	0.010000	0.07245	-0.742000	0.04850	-0.276000	0.09206	-0.911000	0.02809	GCG		0.652	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4		NM_032019		17	32	0	0	0	0.006122	0	17	32		
CLASP2	23122	broad.mit.edu	37	3	33552094	33552094	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:33552094T>A	ENST00000468888.2	-	37	4343	c.4297A>T	c.(4297-4299)Acc>Tcc	p.T1433S	CLASP2_ENST00000461133.3_Missense_Mutation_p.T1192S|CLASP2_ENST00000359576.5_Missense_Mutation_p.T1424S|CLASP2_ENST00000307312.7_Missense_Mutation_p.T914S|CLASP2_ENST00000399362.4_Missense_Mutation_p.T1432S|CLASP2_ENST00000480013.1_Missense_Mutation_p.T1212S|CLASP2_ENST00000539981.1_3'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1213					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGGTTTAGGGTTTCCTTGGAC	0.398																																						uc003cfu.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(4273-4275)ACC>TCC		CLIP-associating protein 2							203.0	181.0	188.0					3																	33552094		1888	4117	6005	SO:0001583	missense	23122							g.chr3:33552094T>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4297A>T	3.37:g.33552094T>A	ENSP00000419974:p.Thr1433Ser					CLASP2_uc003cfs.2_Missense_Mutation_p.T632S|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA	p.T1425S	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			36	4627	-			1434					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.4273A>T		.	.	.	.	.	.	.	.	.	.	T	7.637	0.680074	0.14907	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	6.08	6.08	0.98989	.	0.153878	0.64402	D	0.000012	T	0.41096	0.1144	N	0.12182	0.205	0.36608	D	0.87505	B;B	0.13594	0.008;0.003	B;B	0.17722	0.019;0.01	T	0.44982	-0.9292	10	0.09843	T	0.71	-16.7587	11.6893	0.51505	0.132:0.0:0.0:0.868	.	1424;1432	F5H604;E7ERI8	.;.	S	1433;1432;1424;914;1212;1192	ENSP00000419974:T1433S;ENSP00000382297:T1432S;ENSP00000352581:T1424S;ENSP00000304743:T914S;ENSP00000417518:T1212S;ENSP00000419305:T1192S	ENSP00000304743:T914S	T	-	1	0	CLASP2	33527098	0.998000	0.40836	0.988000	0.46212	0.987000	0.75469	3.100000	0.50275	2.333000	0.79357	0.533000	0.62120	ACC		0.398	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4		NM_001207044		8	72	0	0	0	0.001855	0	8	72		
WDR48	57599	broad.mit.edu	37	3	39093559	39093559	+	Missense_Mutation	SNP	G	G	T	rs147741658		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:39093559G>T	ENST00000302313.5	+	1	71	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L	WDR48_ENST00000544962.1_Missense_Mutation_p.V15L|WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	15					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCGGAGGAAAGTGCAGGTATG	0.662																																						uc003cit.2		NaN																	0				ovary(1)|breast(1)	2						c.(43-45)GTG>TTG		WD repeat domain 48							67.0	63.0	64.0					3																	39093559		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39093559G>T	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.43G>T	3.37:g.39093559G>T	ENSP00000307491:p.Val15Leu					WDR48_uc011ayt.1_Missense_Mutation_p.V15L|WDR48_uc011ayu.1_5'UTR|WDR48_uc011ayv.1_Missense_Mutation_p.V15L|WDR48_uc003ciu.2_RNA	p.V15L	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	1	53	+			15					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.43G>T	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894299	0.72639	.	.	ENSG00000114742	ENST00000302313;ENST00000544962	T;D	0.87729	1.2;-2.29	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.82356	0.5019	L	0.54323	1.7	0.80722	D	1	B;P;P	0.44690	0.0;0.841;0.518	B;B;B	0.35770	0.0;0.21;0.071	T	0.82876	-0.0240	10	0.30854	T	0.27	-0.7916	16.1167	0.81309	0.0:0.0:1.0:0.0	.	15;15;15	Q8TAF3-5;Q8TAF3-3;Q8TAF3	.;.;WDR48_HUMAN	L	15	ENSP00000307491:V15L;ENSP00000445187:V15L	ENSP00000307491:V15L	V	+	1	0	WDR48	39068563	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.574000	0.82434	2.195000	0.70347	0.655000	0.94253	GTG		0.662	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1		NM_020839		27	60	1	0	6.50621e-10	0.002836	6.66555e-10	27	60		
LZTFL1	54585	broad.mit.edu	37	3	45879482	45879482	+	Missense_Mutation	SNP	C	C	T	rs199559779		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:45879482C>T	ENST00000296135.6	-	2	239	c.65G>A	c.(64-66)cGt>cAt	p.R22H	LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000536047.1_Missense_Mutation_p.R5H	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	22					establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TCTCTTTGAACGAGCAAAACG	0.393																																						uc003cox.1		NaN																	0					0						c.(64-66)CGT>CAT		leucine zipper transcription factor-like 1		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	76.0	75.0		65	4.8	1.0	3		75	0,8600		0,0,4300	no	missense	LZTFL1	NM_020347.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	22/300	45879482	1,13005	2203	4300	6503	SO:0001583	missense	54585							g.chr3:45879482C>T	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.65G>A	3.37:g.45879482C>T	ENSP00000296135:p.Arg22His					LZTFL1_uc003coy.1_Missense_Mutation_p.R5H|LZTFL1_uc011bak.1_Intron	p.R22H	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	2	203	-			22					B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	ENST00000296135.6	37	c.65G>A	CCDS2731.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863261	0.71949	2.27E-4	0.0	ENSG00000163818	ENST00000296135;ENST00000536047;ENST00000445698	T;T;T	0.26373	1.74;1.74;1.74	5.63	4.76	0.60689	.	0.095300	0.85682	D	0.000000	T	0.30135	0.0755	M	0.70595	2.14	0.80722	D	1	B	0.28820	0.224	B	0.23150	0.044	T	0.11690	-1.0577	10	0.72032	D	0.01	2.122	14.2967	0.66318	0.0:0.9291:0.0:0.0709	.	22	Q9NQ48	LZTL1_HUMAN	H	22;5;5	ENSP00000296135:R22H;ENSP00000439522:R5H;ENSP00000412240:R5H	ENSP00000296135:R22H	R	-	2	0	LZTFL1	45854486	1.000000	0.71417	0.989000	0.46669	0.937000	0.57800	7.277000	0.78572	1.382000	0.46385	0.655000	0.94253	CGT		0.393	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3		NM_020347		6	65	0	0	0	0.00308	0	6	65		
CADPS	8618	broad.mit.edu	37	3	62739220	62739220	+	Missense_Mutation	SNP	C	C	T	rs150415917		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:62739220C>T	ENST00000383710.4	-	3	1133	c.784G>A	c.(784-786)Gca>Aca	p.A262T	CADPS_ENST00000357948.3_Missense_Mutation_p.A262T|CADPS_ENST00000490353.2_Missense_Mutation_p.A262T|CADPS_ENST00000283269.9_Missense_Mutation_p.A262T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	262					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCGGAGGCTGCGCTGGCTGTC	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15262	0.0		0.0	False		,,,				2504	0.0					uc003dll.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(784-786)GCA>ACA		Ca2+-dependent secretion activator isoform 1		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	67.0	69.0	69.0		784,784,784	5.9	1.0	3	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	CADPS	NM_003716.3,NM_183393.2,NM_183394.2	58,58,58	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	262/1354,262/1275,262/1315	62739220	3,13003	2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62739220C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.784G>A	3.37:g.62739220C>T	ENSP00000373215:p.Ala262Thr					CADPS_uc003dlm.2_Missense_Mutation_p.A262T|CADPS_uc003dln.2_Missense_Mutation_p.A262T	p.A262T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	3	1144	-		Lung SC(41;0.0452)	262					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.784G>A	CCDS46858.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	33	5.223895	0.95139	2.27E-4	2.33E-4	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.92446	0.7602	M	0.73598	2.24	0.80722	D	1	P;D;P	0.89917	0.936;1.0;0.955	P;D;B	0.79108	0.491;0.992;0.223	D	0.91413	0.5152	10	0.48119	T	0.1	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	262;262;262	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	262	ENSP00000373215:A262T;ENSP00000350632:A262T;ENSP00000283269:A262T;ENSP00000418736:A262T	ENSP00000283269:A262T	A	-	1	0	CADPS	62714260	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.818000	0.86416	2.789000	0.95967	0.655000	0.94253	GCA		0.537	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5		NM_003716, NM_183393, NM_183394		60	63	0	0	0	0.00361	0	60	63		
TMF1	7110	broad.mit.edu	37	3	69097297	69097297	+	Missense_Mutation	SNP	T	T	C	rs76863529	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:69097297T>C	ENST00000398559.2	-	2	775	c.559A>G	c.(559-561)Atg>Gtg	p.M187V	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.M187V|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	187					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGCACCTTCATATCCGATTCT	0.393													T|||	5	0.000998403	0.0	0.0	5008	,	,		22976	0.005		0.0	False		,,,				2504	0.0					uc003dnn.2		NaN																	0					0						c.(559-561)ATG>GTG		TATA element modulatory factor 1							180.0	167.0	171.0					3																	69097297		1880	4106	5986	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69097297T>C		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.559A>G	3.37:g.69097297T>C	ENSP00000381567:p.Met187Val					TMF1_uc011bfx.1_Missense_Mutation_p.M187V	p.M187V	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	2	806	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	187					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.559A>G	CCDS43105.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	T	0.277	-0.989210	0.02162	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000438636	T;T	0.76448	-1.02;-1.02	5.8	-5.95	0.02241	.	2.138900	0.01156	N	0.006523	T	0.37785	0.1016	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46176	-0.9210	10	0.26408	T	0.33	13.9253	7.7268	0.28765	0.0:0.3446:0.2965:0.3588	.	187;187	P82094-2;P82094	.;TMF1_HUMAN	V	187	ENSP00000381567:M187V;ENSP00000438706:M187V	ENSP00000381567:M187V	M	-	1	0	TMF1	69179987	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.860000	0.01656	-1.480000	0.01865	0.533000	0.62120	ATG		0.393	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1		NM_007114		42	144	0	0	0	0.00361	0	42	144		
ARHGAP31	57514	broad.mit.edu	37	3	119134219	119134219	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:119134219C>G	ENST00000264245.4	+	12	3975	c.3443C>G	c.(3442-3444)tCt>tGt	p.S1148C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1148					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATGACCTCATCTTACTGTAAA	0.532																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NaN																	0				ovary(2)	2						c.(3442-3444)TCT>TGT		Cdc42 GTPase-activating protein							74.0	72.0	73.0					3																	119134219		1916	4116	6032	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134219C>G		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3443C>G	3.37:g.119134219C>G	ENSP00000264245:p.Ser1148Cys						p.S1148C	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3975	+			1148					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3443C>G	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796021	0.50208	.	.	ENSG00000031081	ENST00000264245	T	0.07444	3.19	5.65	4.78	0.61160	.	0.225320	0.31734	N	0.007154	T	0.15739	0.0379	L	0.57536	1.79	0.09310	N	0.999999	D	0.64830	0.994	P	0.52710	0.707	T	0.06807	-1.0806	10	0.72032	D	0.01	.	9.0482	0.36360	0.145:0.7815:0.0:0.0734	.	1148	Q2M1Z3	RHG31_HUMAN	C	1148	ENSP00000264245:S1148C	ENSP00000264245:S1148C	S	+	2	0	ARHGAP31	120616909	0.020000	0.18652	0.999000	0.59377	0.924000	0.55760	2.433000	0.44793	1.627000	0.50400	0.655000	0.94253	TCT		0.532	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2				27	46	0	0	0	0.00632	0	27	46		
PIK3R4	30849	broad.mit.edu	37	3	130449257	130449257	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:130449257G>C	ENST00000356763.3	-	5	2037	c.1480C>G	c.(1480-1482)Ctg>Gtg	p.L494V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	494					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGGAATCTCAGAGCTGTTTCT	0.299																																						uc003enj.2		NaN																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(1480-1482)CTG>GTG		phosphoinositide-3-kinase, regulatory subunit 4							60.0	63.0	62.0					3																	130449257		2203	4295	6498	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130449257G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1480C>G	3.37:g.130449257G>C	ENSP00000349205:p.Leu494Val						p.L494V	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			5	2061	-			494			HEAT 2.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.1480C>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.736187	0.30774	.	.	ENSG00000196455	ENST00000356763	T	0.33865	1.39	4.87	1.7	0.24286	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.31638	0.0803	L	0.42487	1.325	0.54753	D	0.999983	D	0.60575	0.988	P	0.49252	0.604	T	0.10245	-1.0638	10	0.11794	T	0.64	-13.1677	9.8294	0.40932	0.3167:0.0:0.6833:0.0	.	494	Q99570	PI3R4_HUMAN	V	494	ENSP00000349205:L494V	ENSP00000349205:L494V	L	-	1	2	PIK3R4	131931947	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.615000	0.61190	0.110000	0.17919	-1.595000	0.00837	CTG		0.299	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1		NM_014602		34	51	0	0	0	0.00623	0	34	51		
TOPBP1	11073	broad.mit.edu	37	3	133362908	133362908	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:133362908C>T	ENST00000260810.5	-	11	1935	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	TOPBP1_ENST00000511439.1_5'Flank	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	602	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GCTTCCACTTCACACCCCAGC	0.423								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NaN																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(1804-1806)GAA>AAA	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							89.0	86.0	87.0					3																	133362908		1936	4154	6090	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133362908C>T	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1804G>A	3.37:g.133362908C>T	ENSP00000260810:p.Glu602Lys						p.E602K	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			11	1936	-			602			BRCT 4.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.1804G>A	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	8.058	0.767408	0.15983	.	.	ENSG00000163781	ENST00000260810	T	0.05717	3.4	5.72	-0.418	0.12344	BRCT (2);	0.648498	0.17150	N	0.185085	T	0.03520	0.0101	L	0.33485	1.01	0.28916	N	0.892421	B	0.13145	0.007	B	0.11329	0.006	T	0.44065	-0.9352	10	0.10636	T	0.68	.	2.6335	0.04951	0.1065:0.3384:0.1325:0.4226	.	602	Q92547	TOPB1_HUMAN	K	602	ENSP00000260810:E602K	ENSP00000260810:E602K	E	-	1	0	TOPBP1	134845598	0.966000	0.33281	0.797000	0.32132	0.142000	0.21351	0.418000	0.21230	-0.164000	0.10927	-1.930000	0.00511	GAA		0.423	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1		NM_007027		54	102	0	0	0	0.00361	0	54	102		
CHST2	9435	broad.mit.edu	37	3	142840195	142840195	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:142840195C>T	ENST00000309575.3	+	2	1921	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	179					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCTCGTCGTTCTTCGGCGAGC	0.617																																						uc003evm.2		NaN																	0				ovary(3)	3						c.(535-537)TTC>TTT		carbohydrate (N-acetylglucosamine-6-O)							37.0	45.0	43.0					3																	142840195		2203	4300	6503	SO:0001819	synonymous_variant	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840195C>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.537C>T	3.37:g.142840195C>T							p.F179F	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	1426	+			179			PAPS (Probable).|Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.537C>T	CCDS3129.1																																																																																				0.617	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1		NM_004267		26	29	0	0	0	0.004656	0	26	29		
OTOL1	131149	broad.mit.edu	37	3	161221324	161221324	+	Nonsense_Mutation	SNP	C	C	A	rs375108313		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:161221324C>A	ENST00000327928.4	+	4	1028	c.1028C>A	c.(1027-1029)tCg>tAg	p.S343*		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	343	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GTGCCCCGGTCGGCTTTCAGC	0.517																																						uc011bpb.1		NaN																	0					0						c.(1027-1029)TCG>TAG		otolin-1 precursor		C	stop/SER	0,3744		0,0,1872	40.0	39.0	40.0		1028	5.2	0.0	3		40	1,8197		0,1,4098	no	stop-gained	OTOL1	NM_001080440.1		0,1,5970	AA,AC,CC		0.0122,0.0,0.0084		343/478	161221324	1,11941	1872	4099	5971	SO:0001587	stop_gained	131149					collagen		g.chr3:161221324C>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1028C>A	3.37:g.161221324C>A	ENSP00000330808:p.Ser343*						p.S343*	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			4	1028	+			343			C1q.			Nonsense_Mutation	SNP	ENST00000327928.4	37	c.1028C>A	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883116	0.51908	0.0	1.22E-4	ENSG00000182447	ENST00000327928	.	.	.	5.23	5.23	0.72850	.	0.182080	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3955	0.87444	0.0:1.0:0.0:0.0	.	.	.	.	X	343	.	ENSP00000330808:S343X	S	+	2	0	OTOL1	162704018	0.997000	0.39634	0.007000	0.13788	0.008000	0.06430	4.711000	0.61881	2.427000	0.82271	0.557000	0.71058	TCG		0.517	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1		NM_001080440		18	31	1	0	5.35356e-11	0.00278	5.55266e-11	18	31		
SOX2	6657	broad.mit.edu	37	3	181430953	181430953	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:181430953G>T	ENST00000325404.1	+	1	1232	c.805G>T	c.(805-807)Gac>Tac	p.D269Y	SOX2_ENST00000431565.2_Missense_Mutation_p.D269Y	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	269					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CCAGGCCGGGGACCTCCGGGA	0.682			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															uc003fkx.2		NaN		Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			NSCLC|oesophageal squamous carcinoma		0					0						c.(805-807)GAC>TAC		sex-determining region Y-box 2							36.0	33.0	34.0					3																	181430953		2194	4289	6483	SO:0001583	missense	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430953G>T	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.805G>T	3.37:g.181430953G>T	ENSP00000323588:p.Asp269Tyr					SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron	p.D269Y	NM_003106	NP_003097	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	1232	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		269					Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	c.805G>T	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903296	0.72754	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.84660	-1.88;-1.88	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.93219	0.6607	10	0.87932	D	0	.	18.7542	0.91826	0.0:0.0:1.0:0.0	.	269	P48431	SOX2_HUMAN	Y	269	ENSP00000439111:D269Y;ENSP00000323588:D269Y	ENSP00000323588:D269Y	D	+	1	0	SOX2	182913647	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.768000	0.98965	2.735000	0.93741	0.655000	0.94253	GAC		0.682	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1		NM_003106		47	84	1	0	1.95512e-22	0.00361	2.09716e-22	47	84		
TBC1D19	55296	broad.mit.edu	37	4	26675453	26675453	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:26675453C>T	ENST00000264866.4	+	11	1037	c.759C>T	c.(757-759)ccC>ccT	p.P253P	TBC1D19_ENST00000511789.1_Silent_p.P188P	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	253	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AAGGAAGTCCCACGGCACTGA	0.408																																						uc003gsf.3		NaN																	0				breast(1)	1						c.(757-759)CCC>CCT		TBC1 domain family, member 19							50.0	54.0	52.0					4																	26675453		2203	4300	6503	SO:0001819	synonymous_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26675453C>T	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.759C>T	4.37:g.26675453C>T						TBC1D19_uc010iew.2_Silent_p.P253P|TBC1D19_uc011bxu.1_Silent_p.P188P	p.P253P	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN			11	1029	+		Breast(46;0.0503)	253			Rab-GAP TBC.		B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	c.759C>T	CCDS3439.1																																																																																				0.408	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2		NM_018317		5	43	0	0	0	0.001984	0	5	43		
PDGFRA	5156	broad.mit.edu	37	4	55139760	55139760	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:55139760C>T	ENST00000257290.5	+	10	1752	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	474	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AACATCATCACGGAGATCCAC	0.493			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NaN		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1420-1422)ACG>ATG		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						90.0	88.0	89.0					4																	55139760		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55139760C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1421C>T	4.37:g.55139760C>T	ENSP00000257290:p.Thr474Met	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.T368M|PDGFRA_uc003ham.2_RNA	p.T474M	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		10	1752	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		474			Ig-like C2-type 5.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1421C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	1.009	-0.688521	0.03328	.	.	ENSG00000134853	ENST00000257290	T	0.75938	-0.98	5.48	-0.397	0.12423	Immunoglobulin-like fold (1);	.	.	.	.	T	0.47192	0.1432	N	0.03324	-0.35	0.21652	N	0.999605	B;B	0.12013	0.004;0.005	B;B	0.12156	0.007;0.001	T	0.31916	-0.9926	9	0.39692	T	0.17	.	5.9834	0.19419	0.0:0.28:0.1488:0.5711	.	474;474	P16234-3;P16234	.;PGFRA_HUMAN	M	474	ENSP00000257290:T474M	ENSP00000257290:T474M	T	+	2	0	PDGFRA	54834517	0.735000	0.28153	0.032000	0.17829	0.001000	0.01503	0.774000	0.26675	-0.112000	0.11979	-0.806000	0.03193	ACG		0.493	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		NM_006206		47	58	0	0	0	0.00361	0	47	58		
NOA1	84273	broad.mit.edu	37	4	57840060	57840060	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:57840060G>C	ENST00000264230.4	-	2	2510	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	425	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										ACATTAAGCTGATTTTGTTCT	0.368																																						uc003hck.2		NaN																	0				ovary(1)|breast(1)	2						c.(1273-1275)CAG>GAG		hypothetical protein LOC84273							279.0	241.0	254.0					4																	57840060		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57840060G>C	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1273C>G	4.37:g.57840060G>C	ENSP00000264230:p.Gln425Glu						p.Q425E	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			2	1348	-	Glioma(25;0.08)|all_neural(26;0.181)		425					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.1273C>G	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	G	4.538	0.099870	0.08681	.	.	ENSG00000084092	ENST00000264230	T	0.30182	1.54	4.82	1.98	0.26296	.	0.481353	0.23926	N	0.043192	T	0.25457	0.0619	L	0.45228	1.405	0.31335	N	0.684391	B	0.31351	0.32	B	0.37387	0.248	T	0.19976	-1.0289	10	0.45353	T	0.12	-2.437	5.4204	0.16398	0.0708:0.1238:0.5497:0.2556	.	425	Q8NC60	CD014_HUMAN	E	425	ENSP00000264230:Q425E	ENSP00000264230:Q425E	Q	-	1	0	C4orf14	57534817	0.388000	0.25197	0.382000	0.26119	0.256000	0.26092	0.647000	0.24812	0.065000	0.16485	-0.310000	0.09108	CAG		0.368	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2		NM_032313		30	121	0	0	0	0.003271	0	30	121		
SCARB2	950	broad.mit.edu	37	4	77102129	77102129	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:77102129C>G	ENST00000264896.2	-	3	750	c.401G>C	c.(400-402)aGa>aCa	p.R134T	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	134					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			ATTTAATGTTCTAATTAAGTC	0.318																																						uc003hju.1		NaN																	0					0						c.(400-402)AGA>ACA		scavenger receptor class B, member 2							86.0	88.0	88.0					4																	77102129		2201	4300	6501	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77102129C>G	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.401G>C	4.37:g.77102129C>G	ENSP00000264896:p.Arg134Thr					SCARB2_uc011cbu.1_Intron	p.R134T	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Lung(101;0.196)		3	740	-			134			Lumenal (Potential).		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.401G>C	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	C	7.285	0.609905	0.14066	.	.	ENSG00000138760	ENST00000264896	T	0.68479	-0.33	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	N	0.10945	0.07	0.80722	D	1	B	0.24132	0.098	B	0.36666	0.23	T	0.47114	-0.9142	10	0.02654	T	1	.	18.8434	0.92194	0.0:1.0:0.0:0.0	.	134	Q14108	SCRB2_HUMAN	T	134	ENSP00000264896:R134T	ENSP00000264896:R134T	R	-	2	0	SCARB2	77321153	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	3.772000	0.55325	2.811000	0.96726	0.655000	0.94253	AGA		0.318	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1		NM_005506		38	18	0	0	0	0.011902	0	38	18		
DKK2	27123	broad.mit.edu	37	4	107956668	107956668	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:107956668C>G	ENST00000285311.3	-	1	786	c.81G>C	c.(79-81)caG>caC	p.Q27H	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	27					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AACTGCCGATCTGTGAGCTCT	0.647																																						uc003hyi.2		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(79-81)CAG>CAC		dickkopf homolog 2 precursor							81.0	82.0	82.0					4																	107956668		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107956668C>G	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.81G>C	4.37:g.107956668C>G	ENSP00000285311:p.Gln27His					DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.Q27H	p.Q27H	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	786	-		Hepatocellular(203;0.217)	27					A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.81G>C	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022645	0.54683	.	.	ENSG00000155011	ENST00000285311	T	0.46063	0.88	4.95	4.11	0.48088	.	0.330631	0.32147	N	0.006520	T	0.50446	0.1616	L	0.29908	0.895	0.80722	D	1	D;P	0.65815	0.995;0.943	D;P	0.77557	0.99;0.781	T	0.48007	-0.9072	10	0.40728	T	0.16	-16.7561	13.3769	0.60743	0.0:0.9247:0.0:0.0753	.	27;27	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	H	27	ENSP00000285311:Q27H	ENSP00000285311:Q27H	Q	-	3	2	DKK2	108176117	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.155000	0.64900	1.317000	0.45149	0.544000	0.68410	CAG		0.647	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4				4	166	0	0	0	0.009096	0	4	166		
SMAD1	4086	broad.mit.edu	37	4	146463782	146463782	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:146463782A>G	ENST00000515385.1	+	4	1249	c.707A>G	c.(706-708)cAg>cGg	p.Q236R	SMAD1_ENST00000394092.2_Missense_Mutation_p.Q236R|SMAD1_ENST00000302085.4_Missense_Mutation_p.Q236R			Q15797	SMAD1_HUMAN	SMAD family member 1	236					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCCATGACCCAGGATGGCTCT	0.468																																					Pancreas(182;1287 2092 10326 35158 50562)	uc003ikc.2		NaN																	0				ovary(1)	1						c.(706-708)CAG>CGG		Sma- and Mad-related protein 1							67.0	71.0	70.0					4																	146463782		2203	4300	6503	SO:0001583	missense	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146463782A>G	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.707A>G	4.37:g.146463782A>G	ENSP00000426568:p.Gln236Arg					SMAD1_uc003ikd.2_Missense_Mutation_p.Q236R|SMAD1_uc010iov.2_Missense_Mutation_p.Q236R|SMAD1_uc011cic.1_Intron	p.Q236R	NM_005900	NP_005891	Q15797	SMAD1_HUMAN			4	1123	+	all_hematologic(180;0.151)		236					A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	c.707A>G	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426802	0.62733	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.96913	-4.17;-4.17;-4.17	5.64	5.64	0.86602	SMAD/FHA domain (1);	0.049449	0.85682	D	0.000000	D	0.92838	0.7722	L	0.33485	1.01	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.89696	0.3901	10	0.20519	T	0.43	.	15.8697	0.79101	1.0:0.0:0.0:0.0	.	236	Q15797	SMAD1_HUMAN	R	236	ENSP00000305769:Q236R;ENSP00000377652:Q236R;ENSP00000426568:Q236R	ENSP00000305769:Q236R	Q	+	2	0	SMAD1	146683232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.152000	0.67230	0.533000	0.62120	CAG		0.468	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1		NM_005900		19	384	0	0	0	0.010504	0	19	384		
TLL1	7092	broad.mit.edu	37	4	166935664	166935664	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:166935664C>G	ENST00000061240.2	+	8	1641	c.994C>G	c.(994-996)Cta>Gta	p.L332V	TLL1_ENST00000507499.1_Missense_Mutation_p.L332V|TLL1_ENST00000513213.1_Missense_Mutation_p.L332V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	332	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GCGAACCCGTCTAAGCAAAGG	0.463																																						uc003irh.1		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(994-996)CTA>GTA		tolloid-like 1 precursor							241.0	213.0	222.0					4																	166935664		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166935664C>G	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.994C>G	4.37:g.166935664C>G	ENSP00000061240:p.Leu332Val					TLL1_uc011cjn.1_Missense_Mutation_p.L332V|TLL1_uc011cjo.1_Missense_Mutation_p.L156V	p.L332V	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	8	1641	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	332			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.994C>G	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	9.385	1.074050	0.20147	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.66638	-0.22;-0.22;-0.22	5.17	2.78	0.32641	Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	U	0.000008	T	0.68705	0.3030	M	0.88450	2.955	0.58432	D	0.999998	B;B	0.25312	0.123;0.025	B;B	0.26517	0.07;0.051	T	0.65557	-0.6139	10	0.62326	D	0.03	.	8.0624	0.30640	0.0:0.3177:0.0:0.6823	.	332;332	E9PD25;O43897	.;TLL1_HUMAN	V	332	ENSP00000061240:L332V;ENSP00000426082:L332V;ENSP00000422937:L332V	ENSP00000061240:L332V	L	+	1	2	TLL1	167155114	0.973000	0.33851	0.406000	0.26421	0.211000	0.24417	2.104000	0.41815	0.307000	0.22880	-0.259000	0.10710	CTA		0.463	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1				4	184	0	0	0	0.000602	0	4	184		
TLR3	7098	broad.mit.edu	37	4	187004826	187004826	+	Silent	SNP	C	C	T	rs149490656		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:187004826C>T	ENST00000296795.3	+	4	2090	c.1986C>T	c.(1984-1986)aaC>aaT	p.N662N	TLR3_ENST00000504367.1_Silent_p.N385N	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	662	LRRCT.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATTGGATTAACGAGACCCATA	0.443																																						uc003iyq.2		NaN																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1984-1986)AAC>AAT		toll-like receptor 3 precursor							134.0	142.0	139.0					4																	187004826		2203	4300	6503	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004826C>T	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1986C>T	4.37:g.187004826C>T						TLR3_uc011ckz.1_Silent_p.N385N|TLR3_uc003iyr.2_Silent_p.N385N	p.N662N	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	2087	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	662			Lumenal (Potential).|LRRCT.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.1986C>T	CCDS3846.1																																																																																				0.443	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4				89	65	0	0	0	0.00361	0	89	65		
ICE1	23379	broad.mit.edu	37	5	5476116	5476116	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:5476116G>C	ENST00000296564.7	+	17	6666	c.6444G>C	c.(6442-6444)tgG>tgC	p.W2148C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2148					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGGATAAATGGATAAAATACA	0.313																																						uc003jdm.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(6442-6444)TGG>TGC		hypothetical protein LOC23379							117.0	110.0	113.0					5																	5476116		1859	4110	5969	SO:0001583	missense	23379							g.chr5:5476116G>C																												ENST00000296564.7:c.6444G>C	5.37:g.5476116G>C	ENSP00000296564:p.Trp2148Cys						p.W2148C	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			17	6666	+			2148					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.6444G>C	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489291	0.64074	.	.	ENSG00000164151	ENST00000296564	T	0.60171	0.21	5.49	5.49	0.81192	.	.	.	.	.	T	0.73281	0.3567	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75554	-0.3277	9	0.87932	D	0	-7.6321	14.8733	0.70474	0.0:0.0:1.0:0.0	.	2148	Q9Y2F5	K0947_HUMAN	C	2148	ENSP00000296564:W2148C	ENSP00000296564:W2148C	W	+	3	0	KIAA0947	5529116	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.878000	0.75567	2.573000	0.86826	0.650000	0.86243	TGG		0.313	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1				3	38	0	0	0	0.009096	0	3	38		
ADCY2	108	broad.mit.edu	37	5	7773125	7773125	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:7773125C>T	ENST00000338316.4	+	18	2384	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	ADCY2_ENST00000537121.1_Silent_p.I585I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	765					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGATGTTGATCATGATGGTGG	0.527																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2293-2295)ATC>ATT		adenylate cyclase 2							247.0	212.0	224.0					5																	7773125		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7773125C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2295C>T	5.37:g.7773125C>T						ADCY2_uc011cmo.1_Silent_p.I585I	p.I765I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			18	2362	+			765			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2295C>T	CCDS3872.2																																																																																				0.527	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		47	199	0	0	0	0.00361	0	47	199		
ITGA2	3673	broad.mit.edu	37	5	52351969	52351969	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:52351969C>T	ENST00000296585.5	+	9	1229	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	362	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AACAAATTTTCAGCATTGAAG	0.299																																						uc003joy.2		NaN																	0				lung(1)	1						c.(1084-1086)TTC>TTT		integrin alpha 2 precursor							45.0	50.0	48.0					5																	52351969		2201	4295	6496	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52351969C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1086C>T	5.37:g.52351969C>T						ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.F286F|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.F362F	NM_002203	NP_002194	P17301	ITA2_HUMAN			9	1229	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	362			Extracellular (Potential).|VWFA.		Q14595	Silent	SNP	ENST00000296585.5	37	c.1086C>T	CCDS3957.1																																																																																				0.299	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2		NM_002203		19	54	0	0	0	0.010504	0	19	54		
RAB3C	115827	broad.mit.edu	37	5	58021940	58021940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:58021940C>T	ENST00000282878.4	+	3	533	c.364C>T	c.(364-366)Caa>Taa	p.Q122*	RAB3C_ENST00000507977.1_3'UTR	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	122					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CAATGCAGTACAAGATTGGTA	0.398																																						uc003jrp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(364-366)CAA>TAA		RAB3C, member RAS oncogene family							106.0	102.0	103.0					5																	58021940		2203	4299	6502	SO:0001587	stop_gained	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:58021940C>T	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.364C>T	5.37:g.58021940C>T	ENSP00000282878:p.Gln122*						p.Q122*	NM_138453	NP_612462	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	3	461	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	122						Nonsense_Mutation	SNP	ENST00000282878.4	37	c.364C>T	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	C	38	6.806514	0.97853	.	.	ENSG00000152932	ENST00000282878	.	.	.	5.53	5.53	0.82687	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8201	19.4713	0.94963	0.0:1.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000282878:Q122X	Q	+	1	0	RAB3C	58057697	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.876000	0.69667	2.587000	0.87381	0.563000	0.77884	CAA		0.398	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2		NM_138453		26	48	0	0	0	0.005443	0	26	48		
CDK7	1022	broad.mit.edu	37	5	68531243	68531243	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:68531243G>C	ENST00000256443.3	+	2	192	c.89G>C	c.(88-90)aGa>aCa	p.R30T	CDK7_ENST00000514676.1_Missense_Mutation_p.R30T|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_5'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	30	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TACAAGGCCAGAGATAAGAAC	0.333								Nucleotide excision repair (NER)																														uc003jvs.3		NaN																	0				lung(1)	1						c.(88-90)AGA>ACA	NER	cyclin-dependent kinase 7							127.0	138.0	135.0					5																	68531243		2203	4300	6503	SO:0001583	missense	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68531243G>C		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.89G>C	5.37:g.68531243G>C	ENSP00000256443:p.Arg30Thr					CDK7_uc010ixd.1_Missense_Mutation_p.R30T|CDK7_uc003jvt.3_5'UTR|CDK7_uc003jvu.3_5'UTR	p.R30T	NM_001799	NP_001790	P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	2	270	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	30			Protein kinase.		Q9BS60|Q9UE19	Missense_Mutation	SNP	ENST00000256443.3	37	c.89G>C	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000555	0.54254	.	.	ENSG00000134058	ENST00000256443;ENST00000514676	T;T	0.45276	0.9;0.9	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.134260	0.64402	D	0.000002	T	0.42177	0.1191	L	0.56769	1.78	0.80722	D	1	P;P	0.39044	0.656;0.481	B;B	0.42462	0.388;0.356	T	0.39418	-0.9615	10	0.54805	T	0.06	.	8.9865	0.35997	0.0983:0.0:0.9017:0.0	.	30;30	D6RIG9;P50613	.;CDK7_HUMAN	T	30	ENSP00000256443:R30T;ENSP00000422737:R30T	ENSP00000256443:R30T	R	+	2	0	CDK7	68566999	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.371000	0.52379	2.507000	0.84556	0.561000	0.74099	AGA		0.333	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3		NM_001799		16	42	0	0	0	0.007413	0	16	42		
CCDC125	202243	broad.mit.edu	37	5	68616096	68616096	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:68616096C>G	ENST00000396496.2	-	2	379	c.272G>C	c.(271-273)aGa>aCa	p.R91T	CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.R91T|CCDC125_ENST00000383374.2_Missense_Mutation_p.R91T|CCDC125_ENST00000511257.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	91						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ATTGGAAATTCTGGACACTTG	0.418																																						uc003jvv.1		NaN																	0					0						c.(271-273)AGA>ACA		coiled-coil domain containing 125							208.0	204.0	205.0					5																	68616096		2203	4300	6503	SO:0001583	missense	202243					cytoplasm		g.chr5:68616096C>G	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.272G>C	5.37:g.68616096C>G	ENSP00000379754:p.Arg91Thr					CCDC125_uc003jvx.1_Missense_Mutation_p.R91T|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Missense_Mutation_p.R91T	p.R91T	NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	1	315	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	91					Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.272G>C	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	c	11.13	1.546720	0.27652	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374	T;T;T	0.13657	2.6;2.6;2.57	5.24	4.38	0.52667	.	0.457422	0.22660	N	0.057214	T	0.19485	0.0468	M	0.63428	1.95	0.09310	N	1	P;P	0.44816	0.718;0.844	B;P	0.46825	0.275;0.528	T	0.06899	-1.0801	10	0.27785	T	0.31	-0.7359	10.403	0.44241	0.0:0.9085:0.0:0.0915	.	91;91	F8W912;Q86Z20	.;CC125_HUMAN	T	91	ENSP00000379754:R91T;ENSP00000379756:R91T;ENSP00000372865:R91T	ENSP00000372865:R91T	R	-	2	0	CCDC125	68651852	0.001000	0.12720	0.003000	0.11579	0.029000	0.11900	1.258000	0.32944	1.362000	0.46000	0.556000	0.70494	AGA		0.418	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4		NM_176816		71	139	0	0	0	0.00361	0	71	139		
RIOK2	55781	broad.mit.edu	37	5	96500768	96500768	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:96500768G>A	ENST00000283109.3	-	9	1549	c.1481C>T	c.(1480-1482)tCa>tTa	p.S494L	CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	494	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S494*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		AGGAATTGTTGAACAGCTTAC	0.358																																						uc003kmz.2		NaN																	1	Substitution - Nonsense(1)		endometrium(1)	kidney(1)	1						c.(1480-1482)TCA>TTA		RIO kinase 2 isoform 1							165.0	161.0	162.0					5																	96500768		2203	4300	6503	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96500768G>A	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1481C>T	5.37:g.96500768G>A	ENSP00000283109:p.Ser494Leu						p.S494L	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	9	1591	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	494			Protein kinase.		D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.1481C>T	CCDS4089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.234777|5.234777	0.95207|0.95207	.|.	.|.	ENSG00000058729|ENSG00000058729	ENST00000511012|ENST00000283109	.|T	.|0.27256	.|1.68	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.121890	.|0.56097	.|D	.|0.000024	.|T	.|0.36880	.|0.0983	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D	.|0.54601	.|0.967	.|B	.|0.43251	.|0.413	.|T	.|0.41980	.|-0.9478	.|10	.|0.87932	.|D	.|0	-10.7213|-10.7213	19.213|19.213	0.93765|0.93765	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|494	.|Q9BVS4	.|RIOK2_HUMAN	X|L	113|494	.|ENSP00000283109:S494L	.|ENSP00000283109:S494L	Q|S	-|-	1|2	0|0	RIOK2|RIOK2	96526524|96526524	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	8.607000|8.607000	0.90891|0.90891	2.635000|2.635000	0.89317|0.89317	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.358	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1		NM_018343		27	58	0	0	0	0.010818	0	27	58		
CSNK1G3	1456	broad.mit.edu	37	5	122881389	122881389	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:122881389C>G	ENST00000361991.2	+	1	62	c.32C>G	c.(31-33)tCa>tGa	p.S11*	CSNK1G3_ENST00000345990.4_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395412.1_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000395411.1_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000521364.1_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000360683.2_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000510842.2_Nonsense_Mutation_p.S11*			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	11					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAGGACAAATCAGATGATAGA	0.408																																					Pancreas(187;2868 2964 4353 6297)	uc003ktm.2		NaN																	0					0						c.(31-33)TCA>TGA		casein kinase 1, gamma 3 isoform 1							120.0	102.0	108.0					5																	122881389		2203	4300	6503	SO:0001587	stop_gained	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881389C>G	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.32C>G	5.37:g.122881389C>G	ENSP00000354942:p.Ser11*					CSNK1G3_uc003ktl.2_Nonsense_Mutation_p.S11*|CSNK1G3_uc003ktn.2_Nonsense_Mutation_p.S11*|CSNK1G3_uc003kto.2_Nonsense_Mutation_p.S11*|CSNK1G3_uc011cwr.1_Intron|CSNK1G3_uc011cws.1_Intron|CSNK1G3_uc010jda.2_Nonsense_Mutation_p.S11*	p.S11*	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	751	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	11					A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Nonsense_Mutation	SNP	ENST00000361991.2	37	c.32C>G	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	C	37	6.255040	0.97417	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	.	.	.	5.2	4.32	0.51571	.	2.335320	0.01492	N	0.017111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	13.6746	0.62447	0.0:0.9229:0.0:0.0771	.	.	.	.	X	11	.	ENSP00000334735:S11X	S	+	2	0	CSNK1G3	122909288	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.943000	0.49026	2.805000	0.96524	0.655000	0.94253	TCA		0.408	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1		NM_004384		11	33	0	0	0	0.001368	0	11	33		
CHSY3	337876	broad.mit.edu	37	5	129520128	129520128	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:129520128G>A	ENST00000305031.4	+	3	1651	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	431					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GTGCCCTGATGAGCAAGCTCA	0.502																																						uc003kvd.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1291-1293)ATG>ATA		chondroitin sulfate synthase 3							74.0	68.0	70.0					5																	129520128		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520128G>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1293G>A	5.37:g.129520128G>A	ENSP00000302629:p.Met431Ile						p.M431I	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1293	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	431			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1293G>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799676	0.70567	.	.	ENSG00000198108	ENST00000305031	T	0.15487	2.42	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.35068	0.0919	M	0.74881	2.28	0.80722	D	1	P	0.46859	0.885	P	0.52031	0.688	T	0.06250	-1.0837	9	.	.	.	-2.866	18.5119	0.90920	0.0:0.0:1.0:0.0	.	431	Q70JA7	CHSS3_HUMAN	I	431	ENSP00000302629:M431I	.	M	+	3	0	CHSY3	129548027	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.208000	0.95075	2.779000	0.95612	0.650000	0.86243	ATG		0.502	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1		NM_175856		9	86	0	0	0	0.010729	0	9	86		
KLHL3	26249	broad.mit.edu	37	5	136969816	136969816	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:136969816G>A	ENST00000309755.4	-	12	1803	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506491.1_Missense_Mutation_p.R372C|KLHL3_ENST00000508657.1_Missense_Mutation_p.R422C|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	454					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		AGACACTGGCGGGAAGCTCCA	0.557																																						uc010jek.2		NaN																	0					0						c.(1360-1362)CGC>TGC		kelch-like 3							100.0	88.0	92.0					5																	136969816		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136969816G>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1360C>T	5.37:g.136969816G>A	ENSP00000312397:p.Arg454Cys					KLHL3_uc011cyc.1_Missense_Mutation_p.R189C|KLHL3_uc003lbr.3_Missense_Mutation_p.R372C|KLHL3_uc011cyd.1_Intron|KLHL3_uc010jel.1_Missense_Mutation_p.R189C	p.R454C	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	12	1804	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	454			Kelch 4.		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.1360C>T	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306739	0.81247	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755	T;T;T	0.77750	-1.12;-1.12;-1.12	5.21	4.32	0.51571	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.80768	0.4686	N	0.25890	0.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.82250	-0.0550	10	0.54805	T	0.06	.	14.0304	0.64613	0.0:0.0:0.7186:0.2814	.	189;422;454	B7Z6E2;Q9UH77-2;Q9UH77	.;.;KLHL3_HUMAN	C	372;422;454	ENSP00000424828:R372C;ENSP00000422099:R422C;ENSP00000312397:R454C	ENSP00000312397:R454C	R	-	1	0	KLHL3	136997715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.753000	0.55180	1.364000	0.46038	0.650000	0.86243	CGC		0.557	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2				3	92	0	0	0	0.004672	0	3	92		
WNT8A	7478	broad.mit.edu	37	5	137426224	137426224	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:137426224G>A	ENST00000398754.1	+	6	523	c.518G>A	c.(517-519)aGa>aAa	p.R173K	WNT8A_ENST00000506684.1_Missense_Mutation_p.R191K	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	173					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGGCAGTGAGAGCCACCATG	0.478																																						uc003lcd.1		NaN																	0				ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(517-519)AGA>AAA		wingless-type MMTV integration site family,							48.0	44.0	45.0					5																	137426224		1919	4137	6056	SO:0001583	missense	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137426224G>A	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.518G>A	5.37:g.137426224G>A	ENSP00000381739:p.Arg173Lys					BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.R191K|WNT8A_uc011cyk.1_Missense_Mutation_p.R191K	p.R173K	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	523	+			173					Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	c.518G>A	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	G	4.343	0.063124	0.08388	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.74737	-0.87;-0.87;-0.87	5.31	3.53	0.40419	.	0.141580	0.64402	N	0.000008	T	0.39545	0.1082	N	0.01751	-0.74	0.36405	D	0.863394	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.13407	0.009;0.009;0.004	T	0.42085	-0.9472	10	0.02654	T	1	.	5.9591	0.19289	0.4097:0.0:0.5903:0.0	.	191;191;173	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	K	191;191;173	ENSP00000426653:R191K;ENSP00000424809:R191K;ENSP00000381739:R173K	ENSP00000354726:R173K	R	+	2	0	WNT8A	137454123	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.078000	0.50096	0.816000	0.34421	0.557000	0.71058	AGA		0.478	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1		NM_058244		21	30	0	0	0	0.004656	0	21	30		
PCDHA10	56139	broad.mit.edu	37	5	140237156	140237156	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:140237156C>T	ENST00000307360.5	+	1	1523	c.1523C>T	c.(1522-1524)tCg>tTg	p.S508L	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S508L|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACGTGTCGGTGCACGCG	0.692																																						uc003lhx.2		NaN																	0				ovary(2)|skin(2)|breast(1)	5						c.(1522-1524)TCG>TTG		protocadherin alpha 10 isoform 1 precursor							67.0	73.0	71.0					5																	140237156		2196	4273	6469	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237156C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1523C>T	5.37:g.140237156C>T	ENSP00000304234:p.Ser508Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.S508L|PCDHA10_uc011dad.1_Missense_Mutation_p.S508L	p.S508L	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1523	+			508			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1523C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125403	0.56721	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.61510	0.1;0.6	3.59	3.59	0.41128	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77572	0.4150	M	0.83118	2.625	0.33453	D	0.583933	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.983	D	0.85668	0.1293	9	0.87932	D	0	.	15.8244	0.78686	0.0:1.0:0.0:0.0	.	508;508;508	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	L	508	ENSP00000421030:S508L;ENSP00000304234:S508L	ENSP00000304234:S508L	S	+	2	0	PCDHA10	140217340	0.998000	0.40836	0.998000	0.56505	0.665000	0.39181	4.982000	0.63825	2.003000	0.58678	0.556000	0.70494	TCG		0.692	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2		NM_018901		44	116	0	0	0	0.00361	0	44	116		
PCDHB10	56126	broad.mit.edu	37	5	140569145	140569145	+	5'Flank	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:140569145G>A	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAGTACGAGGTGTGTCT	0.622																																						uc003liw.1		NaN																	0					0						c.(2254-2256)GAG>AAG		protocadherin beta 9 precursor							103.0	120.0	114.0					5																	140569145		2203	4300	6503	SO:0001631	upstream_gene_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140569145G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626		5.37:g.140569145G>A	Exception_encountered					PCDHB10_uc003lix.2_5'Flank	p.E752K	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	2254	+			752			Cytoplasmic (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.2254G>A	CCDS4252.1																																																																																				0.622	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1		NM_018930		71	170	0	0	0	0.00361	0	71	170		
PCDHB10	56126	broad.mit.edu	37	5	140569220	140569220	+	5'Flank	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:140569220C>T	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCCGCCCCATAGGGGTGG	0.463																																						uc003liw.1		NaN																	0					0						c.(2329-2331)CAT>TAT		protocadherin beta 9 precursor							70.0	85.0	80.0					5																	140569220		2184	4297	6481	SO:0001631	upstream_gene_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140569220C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626		5.37:g.140569220C>T	Exception_encountered					PCDHB10_uc003lix.2_5'Flank	p.H777Y	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	2329	+			777			Cytoplasmic (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.2329C>T	CCDS4252.1																																																																																				0.463	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1		NM_018930		45	96	0	0	0	0.00361	0	45	96		
PCDHGA10	56106	broad.mit.edu	37	5	140793096	140793096	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:140793096G>A	ENST00000398610.2	+	1	354	c.354G>A	c.(352-354)gtG>gtA	p.V118V	PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	118	Cadherin 1. {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)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACAGGGTGAAACTTTTTG	0.463																																						uc003lkl.1		NaN																	0					0						c.(352-354)GTG>GTA		protocadherin gamma subfamily A, 10 isoform 1							65.0	74.0	71.0					5																	140793096		2072	4247	6319	SO:0001819	synonymous_variant	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140793096G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.354G>A	5.37:g.140793096G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.V118V	p.V118V	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	354	+			118			Cadherin 1.|Extracellular (Potential).		Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.354G>A	CCDS47292.1																																																																																				0.463	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1		NM_018913		19	32	0	0	0	0.010504	0	19	32		
GPR151	134391	broad.mit.edu	37	5	145894805	145894805	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:145894805G>C	ENST00000311104.2	-	1	948	c.872C>G	c.(871-873)tCt>tGt	p.S291C		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGACTTGAGACAGGGCTAT	0.502																																					Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(871-873)TCT>TGT		G protein-coupled receptor 151							72.0	76.0	74.0					5																	145894805		2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145894805G>C	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.872C>G	5.37:g.145894805G>C	ENSP00000308733:p.Ser291Cys						p.S291C	NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	872	-			291			Helical; Name=7; (Potential).		Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.872C>G	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485324	0.44147	.	.	ENSG00000173250	ENST00000311104	T	0.71817	-0.6	6.17	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.122749	0.53938	D	0.000044	T	0.58424	0.2121	L	0.27053	0.805	0.42771	D	0.993832	B	0.26845	0.161	B	0.23275	0.045	T	0.54490	-0.8286	10	0.32370	T	0.25	.	16.0264	0.80548	0.0:0.1346:0.8654:0.0	.	291	Q8TDV0	GP151_HUMAN	C	291	ENSP00000308733:S291C	ENSP00000308733:S291C	S	-	2	0	GPR151	145874998	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.329000	0.72920	2.941000	0.99782	0.655000	0.94253	TCT		0.502	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1		NM_194251		17	38	0	0	0	0.007413	0	17	38		
ZFP2	80108	broad.mit.edu	37	5	178359437	178359437	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:178359437A>T	ENST00000361362.2	+	5	1653	c.1123A>T	c.(1123-1125)Att>Ttt	p.I375F	ZFP2_ENST00000520301.1_Missense_Mutation_p.I375F|ZFP2_ENST00000523286.1_Missense_Mutation_p.I375F|ZFP2_ENST00000503510.2_Missense_Mutation_p.I375F	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GCATCAGGTCATTCACACTGG	0.423																																						uc003mjn.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1123-1125)ATT>TTT		zinc finger protein 2 homolog							90.0	82.0	85.0					5																	178359437		2203	4300	6503	SO:0001583	missense	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178359437A>T	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.1123A>T	5.37:g.178359437A>T	ENSP00000354453:p.Ile375Phe					ZFP2_uc010jky.2_Missense_Mutation_p.I375F|ZFP2_uc010jkx.1_Missense_Mutation_p.I375F	p.I375F	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	1632	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	375			C2H2-type 10.		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	c.1123A>T	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	a	16.65	3.181997	0.57800	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	4.96	2.51	0.30379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33005	N	0.005381	T	0.12774	0.0310	L	0.38692	1.165	0.32980	D	0.523461	P	0.48350	0.909	P	0.57371	0.819	T	0.11036	-1.0604	10	0.72032	D	0.01	-6.7959	5.873	0.18814	0.7426:0.1682:0.0892:0.0	.	375	Q6ZN57	ZFP2_HUMAN	F	375	ENSP00000354453:I375F;ENSP00000430980:I375F;ENSP00000430531:I375F;ENSP00000438114:I375F	ENSP00000354453:I375F	I	+	1	0	ZFP2	178292043	0.000000	0.05858	0.996000	0.52242	0.973000	0.67179	1.043000	0.30316	0.355000	0.24131	0.533000	0.62120	ATT		0.423	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2		NM_030613		9	82	0	0	0	0.010729	0	9	82		
MAML1	9794	broad.mit.edu	37	5	179201773	179201773	+	Silent	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:179201773G>T	ENST00000292599.3	+	5	3209	c.2946G>T	c.(2944-2946)ggG>ggT	p.G982G	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGCAGTGGGCTCTCTAGTG	0.627																																						uc003mkm.2		NaN																	0				lung(4)|ovary(2)	6						c.(2944-2946)GGG>GGT		mastermind-like 1							69.0	67.0	68.0					5																	179201773		2203	4300	6503	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201773G>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2946G>T	5.37:g.179201773G>T						MAML1_uc003mkn.1_Intron	p.G982G	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	3209	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	982						Silent	SNP	ENST00000292599.3	37	c.2946G>T	CCDS34315.1																																																																																				0.627	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2		NM_014757		22	52	1	0	1.37657e-19	0.012319	1.46406e-19	22	52		
BTN2A2	10385	broad.mit.edu	37	6	26393028	26393028	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:26393028T>C	ENST00000356709.4	+	8	1516	c.1405T>C	c.(1405-1407)Tac>Cac	p.Y469H	BTN2A2_ENST00000352867.2_Missense_Mutation_p.Y353H|BTN2A2_ENST00000416795.2_Missense_Mutation_p.Y469H|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000482536.1_Missense_Mutation_p.Y259H|BTN2A2_ENST00000432533.2_3'UTR	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	469	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						ATCGCACATCTACACATGTCC	0.542																																						uc003nhq.2		NaN																	0					0						c.(1405-1407)TAC>CAC		butyrophilin, subfamily 2, member A2 isoform a							134.0	118.0	123.0					6																	26393028		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26393028T>C	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1405T>C	6.37:g.26393028T>C	ENSP00000349143:p.Tyr469His					BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.Y353H|BTN2A2_uc011dkh.1_Missense_Mutation_p.Y259H|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.Y469H|BTN2A2_uc011dki.1_3'UTR	p.Y469H	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			8	1491	+			469			B30.2/SPRY.|Cytoplasmic (Potential).		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.1405T>C	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	19.21	3.784009	0.70222	.	.	ENSG00000124508	ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	3.63	3.63	0.41609	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.148635	0.31648	N	0.007283	T	0.58836	0.2150	L	0.49640	1.575	0.40791	D	0.983252	D;D;D	0.89917	1.0;0.971;0.995	D;D;D	0.97110	1.0;0.938;0.964	T	0.61758	-0.6997	10	0.49607	T	0.09	.	10.5186	0.44905	0.0:0.0:0.0:1.0	.	259;353;469	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	H	469;353;259;469	ENSP00000349143:Y469H;ENSP00000337117:Y353H;ENSP00000419451:Y259H;ENSP00000399308:Y469H	ENSP00000337117:Y353H	Y	+	1	0	BTN2A2	26501007	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.600000	0.67599	1.420000	0.47138	0.373000	0.22412	TAC		0.542	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1				10	80	0	0	0	0.001368	0	10	80		
TNXA	7146	broad.mit.edu	37	6	31977552	31977552	+	5'Flank	SNP	C	C	G	rs77471377	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:31977552C>G	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GGGGCCGCTCCCGGTTGCCGT	0.667													c|||	772	0.154153	0.2769	0.0965	5008	,	,		12453	0.0764		0.0895	False		,,,				2504	0.1759					uc011dpc.1		NaN																	0					0						c.(1441-1443)CGG>CGC		tenascin XB isoform 2																																				SO:0001631	upstream_gene_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:31977552C>G																													6.37:g.31977552C>G	Exception_encountered						p.R481R	NM_032470	NP_115859	P22105	TENX_HUMAN			12	2352	-			4097			Fibrinogen C-terminal.			Silent	SNP	ENST00000594256.1	37	c.1443G>C																																																																																					0.667	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding					3	31	0	0	0	0.001168	0	3	31		
CUL7	9820	broad.mit.edu	37	6	43011253	43011253	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:43011253G>A	ENST00000265348.3	-	17	3373	c.3288C>T	c.(3286-3288)ctC>ctT	p.L1096L	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Silent_p.L1180L			Q14999	CUL7_HUMAN	cullin 7	1096					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCAGGTGAGTGAGACGGCGCA	0.647																																						uc003otq.2		NaN																	0				ovary(3)|kidney(1)	4						c.(3286-3288)CTC>CTT		cullin 7							35.0	38.0	37.0					6																	43011253		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43011253G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3288C>T	6.37:g.43011253G>A						CUL7_uc010jyg.2_Silent_p.L375L|CUL7_uc011dvb.1_Silent_p.L1180L|CUL7_uc010jyh.2_Silent_p.L89L|KLC4_uc003otr.1_Intron	p.L1096L	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		17	3591	-			1096					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.3288C>T	CCDS4881.1																																																																																				0.647	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1		NM_014780		79	12	0	0	0	0.00361	0	79	12		
RIMS1	22999	broad.mit.edu	37	6	73110200	73110200	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:73110200G>C	ENST00000521978.1	+	34	4863	c.4863G>C	c.(4861-4863)gtG>gtC	p.V1621V	RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000425662.2_Silent_p.V689V|RIMS1_ENST00000538414.1_Silent_p.V427V|RIMS1_ENST00000517960.1_Silent_p.V1404V|RIMS1_ENST00000264839.7_Silent_p.V1470V|RIMS1_ENST00000518273.1_Silent_p.V1300V|RIMS1_ENST00000520567.1_Silent_p.V1271V|RIMS1_ENST00000401910.3_Silent_p.V941V|RIMS1_ENST00000522291.1_Silent_p.V1220V|RIMS1_ENST00000517827.1_Silent_p.V755V|RIMS1_ENST00000491071.2_Silent_p.V1410V|RIMS1_ENST00000523963.1_Silent_p.V746V|RIMS1_ENST00000348717.5_Silent_p.V1404V|RIMS1_ENST00000414192.2_Silent_p.V148V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1621	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCTGCAGGTGATTGTCTGGG	0.478																																						uc003pga.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(4861-4863)GTG>GTC		regulating synaptic membrane exocytosis 1							129.0	131.0	130.0					6																	73110200		2134	4277	6411	SO:0001819	synonymous_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73110200G>C	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4863G>C	6.37:g.73110200G>C						RIMS1_uc011dyb.1_Silent_p.V1018V|RIMS1_uc003pgc.2_Silent_p.V1036V|RIMS1_uc010kaq.2_Silent_p.V941V|RIMS1_uc011dyc.1_Silent_p.V746V|RIMS1_uc010kar.2_Silent_p.V689V|RIMS1_uc011dyd.1_Silent_p.V755V|RIMS1_uc003pgf.2_Silent_p.V621V|RIMS1_uc003pgg.2_Silent_p.V517V|RIMS1_uc003pgi.2_Silent_p.V437V|RIMS1_uc003pgh.2_Silent_p.V488V|RIMS1_uc003pgd.2_Silent_p.V687V|RIMS1_uc003pge.2_Silent_p.V661V|RIMS1_uc011dye.1_Silent_p.V427V|RIMS1_uc011dyf.1_Silent_p.V245V|RIMS1_uc011dyg.1_Silent_p.V148V	p.V1621V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			34	4940	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1621			C2 2.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.4863G>C	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.11|11.11	1.541729|1.541729	0.27563|0.27563	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000522211	.|.	.|.	.|.	5.21|5.21	4.32|4.32	0.51571|0.51571	.|.	.|.	.|.	.|.	.|.	T|.	0.33089|.	0.0851|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32666|.	-0.9898|.	4|.	.|.	.|.	.|.	-17.4141|-17.4141	4.0987|4.0987	0.10004|0.10004	0.1901:0.0:0.6085:0.2014|0.1901:0.0:0.6085:0.2014	.|.	.|.	.|.	.|.	H|S	967|539	.|.	.|.	D|X	+|+	1|2	0|2	RIMS1|RIMS1	73166921|73166921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	1.230000|1.230000	0.32612|0.32612	1.261000|1.261000	0.44149|0.44149	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.478	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1				11	43	0	0	0	0.010729	0	11	43		
DOPEY1	23033	broad.mit.edu	37	6	83818645	83818645	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:83818645C>G	ENST00000349129.2	+	5	597	c.337C>G	c.(337-339)Ctt>Gtt	p.L113V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.L113V|DOPEY1_ENST00000536812.1_Missense_Mutation_p.L113V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L113V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	113					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATTATTTCCTCTTCTTGCAAA	0.313																																						uc003pjs.1		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(337-339)CTT>GTT		dopey family member 1							95.0	97.0	96.0					6																	83818645		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83818645C>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.337C>G	6.37:g.83818645C>G	ENSP00000195654:p.Leu113Val					DOPEY1_uc011dyy.1_Missense_Mutation_p.L113V|DOPEY1_uc010kbl.1_Missense_Mutation_p.L113V	p.L113V	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	5	597	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	113					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.337C>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630936	0.67015	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.30182	1.56;1.57;1.54	5.74	4.87	0.63330	Dopey, N-terminal (1);	0.070853	0.56097	D	0.000031	T	0.28962	0.0719	M	0.64170	1.965	0.51767	D	0.999936	P;P;P	0.40000	0.476;0.698;0.698	B;P;P	0.45577	0.167;0.486;0.486	T	0.06180	-1.0841	10	0.45353	T	0.12	.	16.4974	0.84249	0.1322:0.8678:0.0:0.0	.	113;113;113	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	V	113	ENSP00000195654:L113V;ENSP00000237163:L113V;ENSP00000358754:L113V	ENSP00000237163:L113V	L	+	1	0	DOPEY1	83875364	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.639000	0.54339	1.563000	0.49615	-0.291000	0.09656	CTT		0.313	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		NM_015018		24	56	0	0	0	0.007291	0	24	56		
KLHL32	114792	broad.mit.edu	37	6	97561859	97561859	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:97561859C>T	ENST00000369261.4	+	7	1191	c.828C>T	c.(826-828)gtC>gtT	p.V276V	KLHL32_ENST00000539200.1_Silent_p.V207V|KLHL32_ENST00000536676.1_Silent_p.V240V|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	276										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CACAGCCTGTCTGGCAGACTC	0.542																																						uc010kcm.1		NaN																	0				ovary(3)|skin(1)	4						c.(826-828)GTC>GTT		kelch-like 32							101.0	84.0	90.0					6																	97561859		2203	4300	6503	SO:0001819	synonymous_variant	114792							g.chr6:97561859C>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.828C>T	6.37:g.97561859C>T						KLHL32_uc003poy.2_Silent_p.V276V|KLHL32_uc011ead.1_Silent_p.V240V|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.V207V|KLHL32_uc003ppa.2_Intron	p.V276V	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	7	1300	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	276					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.828C>T	CCDS5038.1																																																																																				0.542	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1		NM_052904		31	43	0	0	0	0.004878	0	31	43		
FIG4	9896	broad.mit.edu	37	6	110110816	110110816	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:110110816G>A	ENST00000230124.3	+	19	2240	c.2116G>A	c.(2116-2118)Gtt>Att	p.V706I	FIG4_ENST00000441478.2_Missense_Mutation_p.V429I	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	706					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GCCTAAGACCGTTGGAATTGA	0.358																																						uc003ptt.2		NaN																	0				ovary(1)	1						c.(2116-2118)GTT>ATT		Sac domain-containing inositol phosphatase 3							145.0	125.0	132.0					6																	110110816		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110110816G>A	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2116G>A	6.37:g.110110816G>A	ENSP00000230124:p.Val706Ile					FIG4_uc011eau.1_Missense_Mutation_p.V429I	p.V706I	NM_014845	NP_055660	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	19	2331	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	706					Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.2116G>A	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951739	0.34471	.	.	ENSG00000112367	ENST00000441478;ENST00000230124;ENST00000419951	T;T	0.52754	1.94;0.65	5.68	0.691	0.18045	.	0.134124	0.49916	N	0.000125	T	0.12178	0.0296	L	0.27053	0.805	0.34980	D	0.754038	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.09400	-1.0676	10	0.22109	T	0.4	-10.6577	6.7044	0.23242	0.3078:0.0:0.5847:0.1074	.	429;706	F5H8L9;Q92562	.;FIG4_HUMAN	I	429;706;13	ENSP00000399443:V429I;ENSP00000230124:V706I	ENSP00000230124:V706I	V	+	1	0	FIG4	110217509	0.560000	0.26570	0.526000	0.27913	0.996000	0.88848	0.821000	0.27338	0.057000	0.16193	0.655000	0.94253	GTT		0.358	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1		NM_014845		22	63	0	0	0	0.007291	0	22	63		
SYNE1	23345	broad.mit.edu	37	6	152772267	152772267	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:152772267G>A	ENST00000367255.5	-	26	3702	c.3101C>T	c.(3100-3102)tCt>tTt	p.S1034F	SYNE1_ENST00000341594.5_Missense_Mutation_p.S1100F|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1034F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1041F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1034F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1041F|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1024F|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1034F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1034					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCTACAGAGGCTAAGAA	0.443										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3100-3102)TCT>TTT		spectrin repeat containing, nuclear envelope 1							173.0	156.0	161.0					6																	152772267		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152772267G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3101C>T	6.37:g.152772267G>A	ENSP00000356224:p.Ser1034Phe	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.S1041F|SYNE1_uc003qou.3_Missense_Mutation_p.S1034F|SYNE1_uc010kjb.1_Missense_Mutation_p.S1017F|SYNE1_uc003qow.2_Missense_Mutation_p.S329F|SYNE1_uc003qox.1_Missense_Mutation_p.S550F	p.S1034F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	26	3703	-		Ovarian(120;0.0955)	1034			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3101C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	5.708	0.315185	0.10789	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88124	0.63;0.64;0.54;0.64;0.72;-2.2;-2.34;-2.34	5.84	1.77	0.24775	.	1.753540	0.02939	N	0.140269	T	0.60958	0.2309	L	0.27053	0.805	0.09310	N	0.999999	B;B;B;P;B;P	0.40144	0.108;0.07;0.21;0.624;0.07;0.704	B;B;B;B;B;B	0.36244	0.049;0.014;0.096;0.22;0.014;0.096	T	0.58047	-0.7705	10	0.09843	T	0.71	.	9.0664	0.36467	0.1362:0.2412:0.6226:0.0	.	1017;1034;1024;1034;1034;1041	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	F	1034;1041;1034;1041;1100;1034;1024;1034	ENSP00000356224:S1034F;ENSP00000396024:S1041F;ENSP00000265368:S1034F;ENSP00000390975:S1041F;ENSP00000341887:S1100F;ENSP00000356222:S1034F;ENSP00000356217:S1024F;ENSP00000414510:S1034F	ENSP00000265368:S1034F	S	-	2	0	SYNE1	152813960	0.197000	0.23362	0.000000	0.03702	0.980000	0.70556	2.341000	0.43983	0.381000	0.24851	-0.355000	0.07637	TCT		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		37	70	0	0	0	0.00623	0	37	70		
EZR	7430	broad.mit.edu	37	6	159192335	159192335	+	Missense_Mutation	SNP	G	G	C	rs139648265	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:159192335G>C	ENST00000367075.3	-	9	1068	c.900C>G	c.(898-900)atC>atG	p.I300M	EZR_ENST00000392177.4_Missense_Mutation_p.I268M|EZR_ENST00000337147.7_Missense_Mutation_p.I300M	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	300	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTGCACCTCGATGGTGTCAG	0.597			T	ROS1	NSCLC																																	uc003qrt.3		NaN		Dom	yes		6	6q25.3	7430		ezrin			E					0				ovary(1)	1						c.(898-900)ATC>ATG		ezrin							74.0	70.0	71.0					6																	159192335		2203	4300	6503	SO:0001583	missense	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159192335G>C	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.900C>G	6.37:g.159192335G>C	ENSP00000356042:p.Ile300Met					EZR_uc011efr.1_5'Flank|EZR_uc011efs.1_Missense_Mutation_p.I268M|EZR_uc003qru.3_Missense_Mutation_p.I300M	p.I300M	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	8	1115	-		Breast(66;0.000776)|Ovarian(120;0.0303)	300			Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.900C>G	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615994	0.46631	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	T;T;T	0.32988	1.43;1.43;1.43	5.13	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.31544	0.0800	L	0.60067	1.865	0.80722	D	1	D;D	0.71674	0.998;0.963	D;P	0.79784	0.993;0.9	T	0.08207	-1.0733	10	0.33940	T	0.23	.	6.7951	0.23721	0.4193:0.0:0.5807:0.0	.	268;300	E7EQR4;P15311	.;EZRI_HUMAN	M	300;300;268	ENSP00000338934:I300M;ENSP00000356042:I300M;ENSP00000376016:I268M	ENSP00000338934:I300M	I	-	3	3	EZR	159112323	0.856000	0.29760	1.000000	0.80357	0.928000	0.56348	-0.036000	0.12185	0.638000	0.30545	0.655000	0.94253	ATC		0.597	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1		NM_003379		17	46	0	0	0	0.007413	0	17	46		
PNLDC1	154197	broad.mit.edu	37	6	160239602	160239602	+	Silent	SNP	C	C	T	rs545678739	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:160239602C>T	ENST00000610273.1	+	16	1311	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P	PNLDC1_ENST00000392167.3_Silent_p.P391P	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	380						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACCCCGTGCCCGAGTCATCCT	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		18387	0.001		0.001	False		,,,				2504	0.0					uc003qsx.1		NaN																	0					0						c.(1138-1140)CCC>CCT		poly(A)-specific ribonuclease (PARN)-like domain							80.0	74.0	76.0					6																	160239602		2203	4300	6503	SO:0001819	synonymous_variant	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160239602C>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1140C>T	6.37:g.160239602C>T						PNLDC1_uc003qsy.1_Silent_p.P391P	p.P380P	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	16	1311	+		Breast(66;0.00519)|Ovarian(120;0.123)	380			Cytoplasmic (Potential).		Q5TAP7|Q8N7X5	Silent	SNP	ENST00000610273.1	37	c.1140C>T	CCDS5271.1																																																																																				0.552	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_173516		18	37	0	0	0	0.012319	0	18	37		
DLL1	28514	broad.mit.edu	37	6	170597419	170597419	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:170597419C>T	ENST00000366756.3	-	4	911	c.578G>A	c.(577-579)cGt>cAt	p.R193H	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	193	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTCCCGGGGACGGCAGAAAAC	0.622																																						uc003qxm.2		NaN																	0				lung(4)|ovary(1)	5						c.(577-579)CGT>CAT		delta-like 1 precursor							85.0	70.0	75.0					6																	170597419		2203	4300	6503	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170597419C>T	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.578G>A	6.37:g.170597419C>T	ENSP00000355718:p.Arg193His					DLL1_uc011ehc.1_Missense_Mutation_p.R193H	p.R193H	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	4	1048	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	193			Extracellular (Potential).|DSL.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.578G>A	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037753	0.75617	.	.	ENSG00000198719	ENST00000366756	T	0.03330	3.97	4.35	4.35	0.52113	Delta/Serrate/lag-2 (DSL) protein (3);	0.058856	0.64402	D	0.000003	T	0.14570	0.0352	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.02202	-1.1196	10	0.56958	D	0.05	.	17.0761	0.86587	0.0:1.0:0.0:0.0	.	193;193	B5M0B3;O00548	.;DLL1_HUMAN	H	193	ENSP00000355718:R193H	ENSP00000355718:R193H	R	-	2	0	DLL1	170439344	1.000000	0.71417	0.985000	0.45067	0.213000	0.24496	5.562000	0.67346	2.258000	0.74832	0.462000	0.41574	CGT		0.622	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1				24	49	0	0	0	0.012213	0	24	49		
MICALL2	79778	broad.mit.edu	37	7	1487240	1487240	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:1487240C>T	ENST00000297508.7	-	4	671	c.496G>A	c.(496-498)Gag>Aag	p.E166K	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	166	Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTGCACCCTCATTCCTCCTC	0.677																																						uc003skj.3		NaN																	0				central_nervous_system(1)	1						c.(496-498)GAG>AAG		MICAL-like 2 isoform 1							27.0	28.0	27.0					7																	1487240		2169	4272	6441	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1487240C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.496G>A	7.37:g.1487240C>T	ENSP00000297508:p.Glu166Lys						p.E166K	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	4	643	-		Ovarian(82;0.0253)	166					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.496G>A	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.592648	0.00864	.	.	ENSG00000164877	ENST00000297508	T	0.69175	-0.38	4.41	3.28	0.37604	.	0.831124	0.09825	U	0.751037	T	0.39937	0.1097	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.31081	-0.9956	10	0.05959	T	0.93	.	7.4173	0.27053	0.1702:0.7218:0.0:0.1079	.	166	Q8IY33	MILK2_HUMAN	K	166	ENSP00000297508:E166K	ENSP00000297508:E166K	E	-	1	0	MICALL2	1453766	0.000000	0.05858	0.017000	0.16124	0.020000	0.10135	0.130000	0.15850	2.007000	0.58848	0.450000	0.29827	GAG		0.677	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2		NM_182924		6	16	0	0	0	0.006214	0	6	16		
MICALL2	79778	broad.mit.edu	37	7	1487250	1487250	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:1487250C>G	ENST00000297508.7	-	4	661	c.486G>C	c.(484-486)caG>caC	p.Q162H	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	162	Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CATTCCTCCTCTGGACCACAG	0.672																																						uc003skj.3		NaN																	0				central_nervous_system(1)	1						c.(484-486)CAG>CAC		MICAL-like 2 isoform 1							28.0	29.0	28.0					7																	1487250		2167	4275	6442	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1487250C>G	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.486G>C	7.37:g.1487250C>G	ENSP00000297508:p.Gln162His						p.Q162H	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	4	633	-		Ovarian(82;0.0253)	162					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.486G>C	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	c	11.43	1.635328	0.29068	.	.	ENSG00000164877	ENST00000297508	T	0.71222	-0.55	4.47	2.29	0.28610	.	0.000000	0.31760	U	0.007118	T	0.75752	0.3892	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	D	0.64687	0.928	T	0.62148	-0.6915	10	0.46703	T	0.11	.	6.9272	0.24422	0.0:0.6022:0.286:0.1118	.	162	Q8IY33	MILK2_HUMAN	H	162	ENSP00000297508:Q162H	ENSP00000297508:Q162H	Q	-	3	2	MICALL2	1453776	0.000000	0.05858	0.223000	0.23860	0.089000	0.18198	0.154000	0.16343	2.044000	0.60594	0.450000	0.29827	CAG		0.672	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2		NM_182924		6	15	0	0	0	0.006214	0	6	15		
DFNA5	1687	broad.mit.edu	37	7	24745981	24745981	+	Silent	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:24745981G>T	ENST00000342947.3	-	8	1430	c.1005C>A	c.(1003-1005)gtC>gtA	p.V335V	DFNA5_ENST00000409775.3_Silent_p.V335V|DFNA5_ENST00000419307.1_Silent_p.V171V|DFNA5_ENST00000409970.1_Silent_p.V171V|DFNA5_ENST00000545231.1_Silent_p.V171V	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	335					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AGAGGCCGCTGACCAGGTCAT	0.647																																					GBM(78;184 1250 20134 20900 23600)	uc010kus.1		NaN																	0				ovary(1)	1						c.(1003-1005)GTC>GTA		deafness, autosomal dominant 5 protein isoform							20.0	20.0	20.0					7																	24745981		2203	4299	6502	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24745981G>T	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1005C>A	7.37:g.24745981G>T						DFNA5_uc003swz.2_Silent_p.V171V|DFNA5_uc003sxa.1_Silent_p.V335V|DFNA5_uc010kut.1_Silent_p.V171V	p.V335V	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN			8	1093	-			335					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.1005C>A	CCDS5389.1																																																																																				0.647	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2		NM_004403		21	14	1	0	6.32553e-13	0.004656	6.588e-13	21	14		
NFE2L3	9603	broad.mit.edu	37	7	26224981	26224981	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:26224981G>A	ENST00000056233.3	+	4	1922	c.1663G>A	c.(1663-1665)Gtc>Atc	p.V555I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	555					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGATGAAATTGTCGGCATGCC	0.398																																						uc003sxq.2		NaN																	0				skin(3)|ovary(1)	4						c.(1663-1665)GTC>ATC		nuclear factor erythroid 2-like 3							114.0	106.0	109.0					7																	26224981		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224981G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1663G>A	7.37:g.26224981G>A	ENSP00000056233:p.Val555Ile						p.V555I	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			4	1935	+			555					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1663G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	3.822	-0.037585	0.07497	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.91894	-2.93	5.55	4.68	0.58851	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.056023	0.64402	N	0.000001	D	0.83257	0.5215	N	0.17838	0.53	0.42354	D	0.992388	B	0.21606	0.058	B	0.17098	0.017	T	0.76798	-0.2826	10	0.02654	T	1	-10.1606	14.1039	0.65075	0.0732:0.0:0.9268:0.0	.	555	Q9Y4A8	NF2L3_HUMAN	I	555;260	ENSP00000056233:V555I	ENSP00000056233:V555I	V	+	1	0	NFE2L3	26191506	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.805000	0.47939	1.360000	0.45960	0.591000	0.81541	GTC		0.398	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1				11	81	0	0	0	0.001855	0	11	81		
Unknown	0	broad.mit.edu	37	7	28319234	28319234	+	IGR	SNP	A	A	C	rs177484	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:28319234A>C								JAZF1-AS1 (35698 upstream) : CREB5 (19705 downstream)																							GTCTTTGGAAACTTTTCTGCA	0.468													A|||	3483	0.695487	0.8585	0.6282	5008	,	,		19807	0.7063		0.5447	False		,,,				2504	0.6667					uc010kuz.1		NaN																	0					0						c.(85-87)TTT>GTT		hypothetical protein LOC402644		A		1116,268		449,218,25	29.0	29.0	29.0			-1.4	0.0	7	dbSNP_79	29	1681,1501		447,787,357	no	intergenic				896,1005,382	CC,CA,AA		47.1716,19.3642,38.7429			28319234	2797,1769	692	1591	2283	SO:0001628	intergenic_variant	402644							g.chr7:28319234A>C																													7.37:g.28319234A>C							p.F29V	NM_001126493	NP_001119965					1	85	-									Missense_Mutation	SNP		37	c.85T>G																																																																																				0	0.468										3	62	0	0	0	0.009096	0	3	62		
AMPH	273	broad.mit.edu	37	7	38543250	38543250	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:38543250C>T	ENST00000356264.2	-	3	420	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	AMPH_ENST00000428293.2_Splice_Site_p.G69S|AMPH_ENST00000325590.5_Splice_Site_p.G69S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	69	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TACACATTACCTTTGATTGCT	0.393																																						uc003tgu.2		NaN																	0				ovary(3)|liver(1)|skin(1)	5						c.(205-207)GGC>AGC		amphiphysin isoform 1							227.0	188.0	201.0					7																	38543250		2203	4300	6503	SO:0001630	splice_region_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38543250C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.205+1G>A	7.37:g.38543250C>T						AMPH_uc003tgv.2_Missense_Mutation_p.G69S	p.G69S	NM_001635	NP_001626	P49418	AMPH_HUMAN			3	274	-			69			BAR.|Potential.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.205G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002517	0.93227	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.58506	0.33;0.33;0.33	5.92	5.92	0.95590	BAR (3);	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	L	0.45581	1.43	0.58432	D	0.999998	D;D	0.69078	0.992;0.997	D;D	0.71870	0.936;0.975	T	0.65776	-0.6086	9	.	.	.	-21.0971	17.2374	0.87002	0.0:1.0:0.0:0.0	.	69;69	P49418-2;P49418	.;AMPH_HUMAN	S	69	ENSP00000317441:G69S;ENSP00000348602:G69S;ENSP00000390734:G69S	.	G	-	1	0	AMPH	38509775	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.642000	0.61383	2.809000	0.96659	0.655000	0.94253	GGC		0.393	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2		NM_001635	Missense_Mutation	129	87	0	0	0	0.00361	0	129	87		
IKZF1	10320	broad.mit.edu	37	7	50468280	50468280	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:50468280C>T	ENST00000331340.3	+	8	1670	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	IKZF1_ENST00000343574.5_Silent_p.F418F|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Silent_p.F418F|IKZF1_ENST00000346667.4_Silent_p.F275F|IKZF1_ENST00000439701.1_Silent_p.F463F|IKZF1_ENST00000349824.4_Silent_p.F362F|IKZF1_ENST00000359197.5_Silent_p.F463F|IKZF1_ENST00000357364.4_Silent_p.F418F	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	505					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGTACGAGTTCTCGTCGCACA	0.607			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3		NaN		"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		28	Unknown(28)		haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(1513-1515)TTC>TTT		zinc finger protein, subfamily 1A, 1 (Ikaros)							49.0	52.0	51.0					7																	50468280		2178	4290	6468	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468280C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1515C>T	7.37:g.50468280C>T						IKZF1_uc003tox.3_Silent_p.F463F|IKZF1_uc003toy.3_Silent_p.F463F|IKZF1_uc011kck.1_Silent_p.F418F|IKZF1_uc003toz.3_Silent_p.F475F|IKZF1_uc010kyx.2_Silent_p.F245F|IKZF1_uc003tpa.3_Silent_p.F247F	p.F505F	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			9	1683	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	505			C2H2-type 6.		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.1515C>T																																																																																					0.607	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1		NM_006060		24	46	0	0	0	0.009535	0	24	46		
GRB10	2887	broad.mit.edu	37	7	50660679	50660679	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:50660679G>C	ENST00000401949.1	-	19	2224	c.1755C>G	c.(1753-1755)ctC>ctG	p.L585L	GRB10_ENST00000403097.1_Silent_p.L579L|GRB10_ENST00000335866.3_Silent_p.L527L|GRB10_ENST00000357271.5_Silent_p.L539L|GRB10_ENST00000407526.1_Silent_p.L527L|GRB10_ENST00000402578.1_Silent_p.L527L|GRB10_ENST00000439599.1_Silent_p.L579L|GRB10_ENST00000398810.2_Silent_p.L527L|GRB10_ENST00000402497.1_Silent_p.L527L|GRB10_ENST00000398812.2_Silent_p.L585L|GRB10_ENST00000406641.1_Silent_p.L527L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	585					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AGTGGTGCTTGAGTTTGCAAG	0.522									Russell-Silver syndrome																													uc003tpi.2		NaN																	0				lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1753-1755)CTC>CTG		growth factor receptor-bound protein 10 isoform							155.0	155.0	155.0					7																	50660679		2084	4219	6303	SO:0001819	synonymous_variant	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50660679G>C		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1755C>G	7.37:g.50660679G>C						GRB10_uc003tph.3_Silent_p.L527L|GRB10_uc003tpj.2_Silent_p.L539L|GRB10_uc003tpk.2_Silent_p.L585L|GRB10_uc010kzb.2_Silent_p.L527L|GRB10_uc003tpl.2_Silent_p.L579L|GRB10_uc003tpm.2_Silent_p.L527L|GRB10_uc003tpn.2_Silent_p.L527L	p.L585L	NM_005311	NP_005302	Q13322	GRB10_HUMAN			16	1786	-	Glioma(55;0.08)|all_neural(89;0.245)		585					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.1755C>G	CCDS43582.1																																																																																				0.522	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1				88	106	0	0	0	0.00361	0	88	106		
AUTS2	26053	broad.mit.edu	37	7	70255920	70255920	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:70255920C>T	ENST00000342771.4	+	19	4039	c.3718C>T	c.(3718-3720)Ctg>Ttg	p.L1240L	AUTS2_ENST00000406775.2_Silent_p.L1216L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1240										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACGACTCCTCTGTCCGCAGA	0.622																																						uc003tvw.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3718-3720)CTG>TTG		autism susceptibility candidate 2 isoform 1							26.0	28.0	27.0					7																	70255920		2201	4299	6500	SO:0001819	synonymous_variant	26053							g.chr7:70255920C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3718C>T	7.37:g.70255920C>T						AUTS2_uc003tvx.3_Silent_p.L1216L|AUTS2_uc011keg.1_Silent_p.L692L	p.L1240L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	4461	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1240					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	c.3718C>T	CCDS5539.1																																																																																				0.622	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2				13	15	0	0	0	0.001855	0	13	15		
TYW1B	441250	broad.mit.edu	37	7	72193853	72193853	+	RNA	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:72193853G>A	ENST00000435769.2	-	0	1252				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										ATTTCAGGCTGGTCCATCTTC	0.423																																						uc011kej.1		NaN																	0					0						c.(1129-1131)CAG>TAG		tRNA-yW synthesizing protein 1 homolog B isoform							137.0	125.0	128.0					7																	72193853		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72193853G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72193853G>A						TYW1B_uc011keh.1_Nonsense_Mutation_p.Q215*|TYW1B_uc011kei.1_Nonsense_Mutation_p.Q3*|TYW1B_uc011kek.1_RNA	p.Q377*	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			12	1288	-			377					A6NG09|B4DFY2|Q3KQX2	Nonsense_Mutation	SNP	ENST00000435769.2	37	c.1129C>T																																																																																					0.423	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2		NM_001145440		13	9	0	0	0	0.006122	0	13	9		
ST7	7982	broad.mit.edu	37	7	116859168	116859168	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:116859168A>G	ENST00000393451.3	+	13	1566	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R	ST7_ENST00000393444.3_Missense_Mutation_p.K413R|ST7_ENST00000432298.1_Missense_Mutation_p.K433R|ST7_ENST00000265437.5_Missense_Mutation_p.K479R|ST7_ENST00000323984.3_Missense_Mutation_p.K479R|ST7_ENST00000393443.1_Missense_Mutation_p.K401R|ST7_ENST00000393446.2_Intron|ST7_ENST00000422922.1_Missense_Mutation_p.K410R|ST7_ENST00000393449.1_Missense_Mutation_p.K474R|ST7_ENST00000393447.4_Missense_Mutation_p.K436R	NM_018412.3	NP_060882.2	Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCCTTGGAAAAGGGGCACCTA	0.453																																						uc003vin.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1435-1437)AAG>AGG		suppression of tumorigenicity 7 isoform b							171.0	169.0	170.0					7																	116859168		2203	4300	6503	SO:0001583	missense	7982					integral to membrane	binding	g.chr7:116859168A>G	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393451.3:c.1367A>G	7.37:g.116859168A>G	ENSP00000377097:p.Lys456Arg					ST7_uc011knl.1_Missense_Mutation_p.K456R|ST7_uc003vio.2_Missense_Mutation_p.K456R|ST7_uc003viq.2_Missense_Mutation_p.K433R|ST7_uc011knm.1_Missense_Mutation_p.K436R|ST7_uc003vir.2_Missense_Mutation_p.K399R|ST7_uc011knn.1_Missense_Mutation_p.K427R	p.K479R	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1650	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		479					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393451.3	37	c.1436A>G	CCDS5769.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.718493	0.48622	.	.	ENSG00000004866	ENST00000265437;ENST00000393451;ENST00000323984;ENST00000393449;ENST00000432298;ENST00000422922;ENST00000393443;ENST00000393447;ENST00000393444;ENST00000490039	T;T;T;T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	L	0.55743	1.74	0.80722	D	1	B;B;D;P;P;D;B	0.63046	0.175;0.029;0.992;0.821;0.678;0.99;0.18	B;B;D;P;P;D;B	0.76071	0.122;0.084;0.987;0.647;0.806;0.979;0.174	T	0.09796	-1.0658	10	0.40728	T	0.16	-15.5908	16.2589	0.82530	1.0:0.0:0.0:0.0	.	427;436;456;401;433;456;479	C9JU30;B7Z4L1;B7Z573;Q9NRC1-6;B7Z4U3;Q9NRC1-2;Q9NRC1	.;.;.;.;.;.;ST7_HUMAN	R	479;456;479;474;433;410;401;436;413;427	ENSP00000265437:K479R;ENSP00000377097:K456R;ENSP00000325673:K479R;ENSP00000377095:K474R;ENSP00000411118:K433R;ENSP00000414031:K410R;ENSP00000377089:K401R;ENSP00000377093:K436R;ENSP00000377090:K413R;ENSP00000419516:K427R	ENSP00000265437:K479R	K	+	2	0	ST7	116646404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.297000	0.77311	0.533000	0.62120	AAG		0.453	ST7-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060209.3		NM_021908		3	192	0	0	0	0.001168	0	3	192		
CFTR	1080	broad.mit.edu	37	7	117232685	117232685	+	Missense_Mutation	SNP	G	G	A	rs397508378		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:117232685G>A	ENST00000003084.6	+	14	2596	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	CFTR_ENST00000454343.1_Missense_Mutation_p.E761K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	822			E -> K (in CF).		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GGAAATAAGTGAAGAAATTAA	0.403									Cystic Fibrosis																													uc003vjd.2		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)	5	GRCh37	CM930119|CM970287	CFTR	M		c.(2464-2466)GAA>AAA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						55.0	57.0	56.0					7																	117232685		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232685G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2464G>A	7.37:g.117232685G>A	ENSP00000003084:p.Glu822Lys					CFTR_uc011knq.1_Missense_Mutation_p.E228K	p.E822K	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2596	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		822		E -> K (in CF).	Cytoplasmic (Potential).		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2464G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426269	0.83667	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.96300	-3.97;-3.97;-3.97	5.15	5.15	0.70609	.	0.150121	0.64402	D	0.000013	D	0.97002	0.9021	M	0.72894	2.215	0.58432	D	0.999992	P	0.43024	0.798	P	0.52481	0.7	D	0.95840	0.8865	10	0.23302	T	0.38	-23.8965	18.972	0.92718	0.0:0.0:1.0:0.0	.	822	P13569	CFTR_HUMAN	K	822;761;792	ENSP00000003084:E822K;ENSP00000403677:E761K;ENSP00000389119:E792K	ENSP00000003084:E822K	E	+	1	0	CFTR	117019921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.701000	0.91331	2.539000	0.85634	0.650000	0.86243	GAA		0.403	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3		NM_000492		21	63	0	0	0	0.005443	0	21	63		
CPED1	79974	broad.mit.edu	37	7	120782154	120782154	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:120782154C>A	ENST00000310396.5	+	16	2481	c.2014C>A	c.(2014-2016)Ctg>Atg	p.L672M	CPED1_ENST00000450913.2_Missense_Mutation_p.L672M|CPED1_ENST00000423795.1_Missense_Mutation_p.L452M	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	672						endoplasmic reticulum (GO:0005783)											CCGCCCAAGTCTGCCCTTGTT	0.443																																						uc003vjq.3		NaN																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2014-2016)CTG>ATG		hypothetical protein LOC79974 isoform 1							187.0	168.0	174.0					7																	120782154		2203	4299	6502	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120782154C>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2014C>A	7.37:g.120782154C>A	ENSP00000309772:p.Leu672Met					C7orf58_uc003vjs.3_Missense_Mutation_p.L672M|C7orf58_uc003vjt.3_Missense_Mutation_p.L452M	p.L672M	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			16	2461	+	all_neural(327;0.117)		672					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2014C>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672173	0.67928	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.33216	1.73;1.42;1.45	5.77	3.95	0.45737	.	0.076873	0.53938	D	0.000054	T	0.49218	0.1544	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.982	T	0.49234	-0.8961	10	0.59425	D	0.04	.	8.4713	0.32986	0.0:0.7185:0.0:0.2815	.	452;672;672	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	M	672;672;452	ENSP00000309772:L672M;ENSP00000406122:L672M;ENSP00000415573:L452M	ENSP00000309772:L672M	L	+	1	2	C7orf58	120569390	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.755000	0.38379	1.572000	0.49736	0.655000	0.94253	CTG		0.443	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1		NM_024913		58	135	1	0	4.83814e-26	0.00361	5.2119e-26	58	135		
GPR37	2861	broad.mit.edu	37	7	124404068	124404068	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:124404068G>A	ENST00000303921.2	-	1	1613	c.963C>T	c.(961-963)caC>caT	p.H321H		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	321					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTCAGCTCGTGGAAGATGA	0.522																																						uc003vli.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(961-963)CAC>CAT		G protein-coupled receptor 37 precursor							140.0	152.0	148.0					7																	124404068		2203	4300	6503	SO:0001819	synonymous_variant	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404068G>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.963C>T	7.37:g.124404068G>A							p.H321H	NM_005302	NP_005293	O15354	GPR37_HUMAN			1	1614	-			321			Extracellular (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	c.963C>T	CCDS5792.1																																																																																				0.522	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1		NM_005302		6	192	0	0	0	0.004482	0	6	192		
MKRN1	23608	broad.mit.edu	37	7	140159649	140159649	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:140159649G>C	ENST00000255977.2	-	3	626	c.402C>G	c.(400-402)ctC>ctG	p.L134L	MKRN1_ENST00000474576.1_Silent_p.L70L|MKRN1_ENST00000443720.2_Silent_p.L134L|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	134					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTATCGATGAGAGACTTGAGG	0.413																																						uc003vvt.2		NaN																	0				ovary(1)	1						c.(400-402)CTC>CTG		makorin ring finger protein 1 isoform 1							149.0	144.0	145.0					7																	140159649		2203	4300	6503	SO:0001819	synonymous_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140159649G>C	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.402C>G	7.37:g.140159649G>C						MKRN1_uc003vvs.2_Silent_p.L70L|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Silent_p.L134L|MKRN1_uc003vvu.3_Silent_p.L70L	p.L134L	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN			3	627	-	Melanoma(164;0.00956)		134					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP	ENST00000255977.2	37	c.402C>G	CCDS5860.1																																																																																				0.413	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1		NM_013446		32	87	0	0	0	0.004878	0	32	87		
ZNF425	155054	broad.mit.edu	37	7	148802225	148802225	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:148802225G>C	ENST00000378061.2	-	4	870	c.738C>G	c.(736-738)ttC>ttG	p.F246L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	246					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CACTGCACTGGAACCGCTTCT	0.582																																						uc003wfj.2		NaN																	0				breast(2)|ovary(1)	3						c.(736-738)TTC>TTG		zinc finger protein 425							91.0	93.0	93.0					7																	148802225		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802225G>C	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.738C>G	7.37:g.148802225G>C	ENSP00000367300:p.Phe246Leu						p.F246L	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	811	-	Melanoma(164;0.15)		246			C2H2-type 2.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.738C>G	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644266	0.87859	.	.	ENSG00000204947	ENST00000378061	T	0.33865	1.39	2.98	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30978	0.0782	N	0.08118	0	0.25062	N	0.991057	D	0.61080	0.989	P	0.60012	0.867	T	0.14448	-1.0472	9	0.66056	D	0.02	.	6.9659	0.24623	0.2609:0.0:0.7391:0.0	.	246	Q6IV72	ZN425_HUMAN	L	246	ENSP00000367300:F246L	ENSP00000367300:F246L	F	-	3	2	ZNF425	148433158	0.000000	0.05858	0.033000	0.17914	0.972000	0.66771	0.568000	0.23623	0.553000	0.29044	0.655000	0.94253	TTC		0.582	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1		XM_088140		24	57	0	0	0	0.00632	0	24	57		
ZNF467	168544	broad.mit.edu	37	7	149463272	149463272	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:149463272C>G	ENST00000302017.3	-	5	732	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCGACCTCCTCTTCTGCCTCC	0.572																																						uc003wgd.2		NaN																	0					0						c.(319-321)GAG>CAG		zinc finger protein 467							118.0	99.0	105.0					7																	149463272		2203	4300	6503	SO:0001583	missense	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149463272C>G	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.319G>C	7.37:g.149463272C>G	ENSP00000304769:p.Glu107Gln					ZNF467_uc003wgc.2_Intron	p.E107Q	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	460	-	Melanoma(164;0.165)|Ovarian(565;0.177)		107						Missense_Mutation	SNP	ENST00000302017.3	37	c.319G>C	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	c	12.01	1.810974	0.32053	.	.	ENSG00000181444	ENST00000302017	T	0.06687	3.27	4.36	3.47	0.39725	.	0.246643	0.20743	U	0.086507	T	0.06600	0.0169	L	0.27053	0.805	0.09310	N	1	B	0.26400	0.148	B	0.19946	0.027	T	0.30001	-0.9993	10	0.36615	T	0.2	-9.6937	11.884	0.52592	0.0:0.9124:0.0:0.0876	.	107	Q7Z7K2	ZN467_HUMAN	Q	107	ENSP00000304769:E107Q	ENSP00000304769:E107Q	E	-	1	0	ZNF467	149094205	0.001000	0.12720	0.340000	0.25575	0.994000	0.84299	1.249000	0.32839	0.812000	0.34326	0.552000	0.68991	GAG		0.572	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1		NM_207336		34	44	0	0	0	0.007835	0	34	44		
USP17L2	377630	broad.mit.edu	37	8	11995859	11995859	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:11995859G>A	ENST00000333796.3	-	1	727	c.411C>T	c.(409-411)caC>caT	p.H137H	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	137	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GACCAGGACTGTGGAGGGCCC	0.532																																						uc003wvc.1		NaN																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(409-411)CAC>CAT		deubiquitinating enzyme 3							25.0	28.0	27.0					8																	11995859		1443	3020	4463	SO:0001819	synonymous_variant	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995859G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.411C>T	8.37:g.11995859G>A						FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	p.H137H	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			1	411	-			137						Silent	SNP	ENST00000333796.3	37	c.411C>T	CCDS43713.1																																																																																				0.532	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2		NM_201402		12	29	0	0	0	0.006122	0	12	29		
ARFGEF1	10565	broad.mit.edu	37	8	68150646	68150646	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:68150646C>T	ENST00000262215.3	-	22	3610	c.3221G>A	c.(3220-3222)cGa>cAa	p.R1074Q	ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R528Q	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1074					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCTCTGCCTCGCACTGTTCC	0.403																																						uc003xxo.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(3220-3222)CGA>CAA		brefeldin A-inhibited guanine							94.0	85.0	88.0					8																	68150646		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68150646C>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3221G>A	8.37:g.68150646C>T	ENSP00000262215:p.Arg1074Gln					ARFGEF1_uc003xxl.1_Missense_Mutation_p.R528Q|ARFGEF1_uc003xxn.1_Missense_Mutation_p.R57Q	p.R1074Q	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		22	3611	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1074					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3221G>A	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321962	0.95682	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.67865	-0.29;2.07	5.48	5.48	0.80851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	L	0.59436	1.845	0.80722	D	1	P;P;P	0.52692	0.955;0.814;0.926	P;B;B	0.44921	0.464;0.138;0.095	T	0.68085	-0.5502	10	0.34782	T	0.22	.	19.3369	0.94322	0.0:1.0:0.0:0.0	.	1074;552;528	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	Q	528;1074	ENSP00000428429:R528Q;ENSP00000262215:R1074Q	ENSP00000262215:R1074Q	R	-	2	0	ARFGEF1	68313200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.566000	0.86566	0.650000	0.86243	CGA		0.403	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4		NM_006421		41	84	0	0	0	0.00361	0	41	84		
ARFGEF1	10565	broad.mit.edu	37	8	68150723	68150723	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:68150723C>T	ENST00000262215.3	-	22	3533	c.3144G>A	c.(3142-3144)ctG>ctA	p.L1048L	ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Silent_p.L502L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1048					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGATGCACTTCAGAATCTTAA	0.368																																						uc003xxo.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(3142-3144)CTG>CTA		brefeldin A-inhibited guanine							45.0	43.0	44.0					8																	68150723		2203	4300	6503	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68150723C>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3144G>A	8.37:g.68150723C>T						ARFGEF1_uc003xxl.1_Silent_p.L502L|ARFGEF1_uc003xxn.1_Silent_p.L31L	p.L1048L	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		22	3534	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1048					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.3144G>A	CCDS6199.1																																																																																				0.368	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4		NM_006421		20	32	0	0	0	0.008871	0	20	32		
ZFHX4	79776	broad.mit.edu	37	8	77767807	77767807	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:77767807C>A	ENST00000521891.2	+	10	9098	c.8650C>A	c.(8650-8652)Caa>Aaa	p.Q2884K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2839K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2839K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2858K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2839					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGACCACGACCAAAGCTTTTA	0.522										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8515-8517)CAA>AAA		zinc finger homeodomain 4							86.0	87.0	87.0					8																	77767807		1997	4164	6161	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767807C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8650C>A	8.37:g.77767807C>A	ENSP00000430497:p.Gln2884Lys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.Q2884K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2839K	p.Q2839K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8902	+			2839					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8515C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306246	0.40795	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.47869	0.83;0.88;0.85;0.84	5.25	5.25	0.73442	.	0.000000	0.41605	U	0.000856	T	0.40473	0.1118	N	0.11427	0.14	0.34568	D	0.713147	B;P;P	0.48694	0.41;0.545;0.914	B;B;P	0.54499	0.096;0.196;0.754	T	0.22521	-1.0214	10	0.02654	T	1	.	19.0329	0.92965	0.0:1.0:0.0:0.0	.	2839;2839;2884	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2884;2868;2839;2839;2858	ENSP00000430497:Q2884K;ENSP00000399605:Q2839K;ENSP00000050961:Q2839K;ENSP00000430848:Q2858K	ENSP00000050961:Q2839K	Q	+	1	0	ZFHX4	77930362	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.587000	0.67510	2.733000	0.93635	0.561000	0.74099	CAA		0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		17	37	1	0	1.90627e-21	0.012319	2.03606e-21	17	37		
PKIA	5569	broad.mit.edu	37	8	79513978	79513978	+	Splice_Site	SNP	A	A	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:79513978A>T	ENST00000396418.2	+	4	639	c.153A>T	c.(151-153)gaA>gaT	p.E51D	PKIA_ENST00000518467.1_Splice_Site_p.E51D|PKIA_ENST00000352966.5_Splice_Site_p.E51D	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	51					negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP-dependent protein kinase inhibitor activity (GO:0004862)|protein kinase A catalytic subunit binding (GO:0034236)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						CTTTTGCAGAAGGTGAAGAAG	0.383																																						uc003yba.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(151-153)GAA>GAT		cAMP-dependent protein kinase inhibitor alpha							115.0	104.0	108.0					8																	79513978		2203	4299	6502	SO:0001630	splice_region_variant	5569						cAMP-dependent protein kinase inhibitor activity	g.chr8:79513978A>T	S76965	CCDS6222.1	8q21.13	2014-08-12			ENSG00000171033	ENSG00000171033			9017	protein-coding gene	gene with protein product		606059		PRKACN1		1770951	Standard	NM_006823		Approved		uc003ybb.3	P61925	OTTHUMG00000164618	ENST00000396418.2:c.152-1A>T	8.37:g.79513978A>T						PKIA_uc003ybb.2_Missense_Mutation_p.E51D|PKIA_uc010lzo.2_Missense_Mutation_p.E51D	p.E51D	NM_006823	NP_006814	P61925	IPKA_HUMAN			4	677	+			51					P04541|Q6IAV2	Missense_Mutation	SNP	ENST00000396418.2	37	c.153A>T	CCDS6222.1	.	.	.	.	.	.	.	.	.	.	A	8.707	0.911110	0.17833	.	.	ENSG00000171033	ENST00000396418;ENST00000352966;ENST00000518467	.	.	.	5.26	1.31	0.21738	.	0.148240	0.45606	D	0.000359	T	0.36608	0.0973	.	.	.	0.40877	D	0.98396	B	0.09022	0.002	B	0.04013	0.001	T	0.07868	-1.0750	7	.	.	.	.	6.6684	0.23054	0.7328:0.1286:0.1386:0.0	.	51	P61925	IPKA_HUMAN	D	51	.	.	E	+	3	2	PKIA	79676533	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.205000	0.42770	0.313000	0.23062	0.533000	0.62120	GAA		0.383	PKIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379420.1			Missense_Mutation	21	25	0	0	0	0.002299	0	21	25		
SPAG1	6674	broad.mit.edu	37	8	101251630	101251630	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:101251630G>C	ENST00000388798.2	+	17	2469	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	SPAG1_ENST00000251809.3_Missense_Mutation_p.E760Q	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	760					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TGAGATTCAAGAGGTATTTGT	0.353																																						uc003yjh.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2278-2280)GAG>CAG		sperm associated antigen 1							66.0	65.0	65.0					8																	101251630		2203	4299	6502	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101251630G>C	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.2278G>C	8.37:g.101251630G>C	ENSP00000373450:p.Glu760Gln					SPAG1_uc003yji.1_Missense_Mutation_p.E760Q	p.E760Q	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	17	2364	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	760					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.2278G>C	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554421	0.86231	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	T;T	0.62639	0.01;0.01	6.07	6.07	0.98685	.	1.267000	0.05322	N	0.526715	T	0.80798	0.4692	M	0.75264	2.295	0.54753	D	0.999986	D	0.71674	0.998	P	0.57152	0.814	T	0.72276	-0.4341	10	0.72032	D	0.01	-21.1629	20.2697	0.98465	0.0:0.0:1.0:0.0	.	760	Q07617	SPAG1_HUMAN	Q	760	ENSP00000251809:E760Q;ENSP00000373450:E760Q	ENSP00000251809:E760Q	E	+	1	0	SPAG1	101320806	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.716000	0.74702	2.885000	0.99019	0.655000	0.94253	GAG		0.353	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2		NM_172218		32	53	0	0	0	0.004289	0	32	53		
DPYS	1807	broad.mit.edu	37	8	105436562	105436562	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:105436562G>A	ENST00000351513.2	-	7	1280	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	383					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAATTTTGGCTGCATTTGT	0.348																																						uc003yly.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1147-1149)GCC>GTC		dihydropyrimidinase							145.0	143.0	144.0					8																	105436562		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105436562G>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1148C>T	8.37:g.105436562G>A	ENSP00000276651:p.Ala383Val						p.A383V	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	1277	-			383						Missense_Mutation	SNP	ENST00000351513.2	37	c.1148C>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314558	0.95655	.	.	ENSG00000147647	ENST00000351513	D	0.95518	-3.73	5.98	5.98	0.97165	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.98830	0.9605	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99032	1.0821	10	0.87932	D	0	-24.2374	20.4434	0.99119	0.0:0.0:1.0:0.0	.	383	Q14117	DPYS_HUMAN	V	383	ENSP00000276651:A383V	ENSP00000276651:A383V	A	-	2	0	DPYS	105505738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.838000	0.97847	0.655000	0.94253	GCC		0.348	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1		NM_001385		9	80	0	0	0	0.006214	0	9	80		
TRPS1	7227	broad.mit.edu	37	8	116616680	116616680	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:116616680C>T	ENST00000220888.5	-	3	1636	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	TRPS1_ENST00000395715.3_Missense_Mutation_p.E506K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E493K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E497K|TRPS1_ENST00000519076.1_Intron			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	493					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTCATTGTCTCTCCTTCTGAA	0.463									Langer-Giedion syndrome																													uc003ynz.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1477-1479)GAG>AAG		zinc finger transcription factor TRPS1							110.0	106.0	107.0					8																	116616680		1882	4112	5994	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616680C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1477G>A	8.37:g.116616680C>T	ENSP00000220888:p.Glu493Lys					TRPS1_uc011lhy.1_Missense_Mutation_p.E497K|TRPS1_uc003yny.2_Missense_Mutation_p.E506K|TRPS1_uc010mcy.2_Missense_Mutation_p.E493K	p.E493K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1936	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		493					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1477G>A		.	.	.	.	.	.	.	.	.	.	C	11.61	1.689522	0.29962	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	D;D;D;T	0.98455	-4.94;-4.92;-4.92;0.88	5.6	5.6	0.85130	.	0.689469	0.14589	N	0.310344	D	0.94971	0.8373	N	0.14661	0.345	0.38011	D	0.934545	B;B;B	0.25272	0.122;0.075;0.122	B;B;B	0.25291	0.059;0.027;0.059	D	0.92517	0.6021	10	0.36615	T	0.2	.	15.4568	0.75321	0.0:0.8619:0.1381:0.0	.	497;493;506	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	506;493;497;493	ENSP00000379065:E506K;ENSP00000220888:E493K;ENSP00000428680:E497K;ENSP00000429174:E493K	ENSP00000220888:E493K	E	-	1	0	TRPS1	116685855	0.996000	0.38824	0.982000	0.44146	0.546000	0.35178	1.935000	0.40173	2.793000	0.96121	0.591000	0.81541	GAG		0.463	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3		NM_014112		10	119	0	0	0	0.006214	0	10	119		
UNC13B	10497	broad.mit.edu	37	9	35400365	35400365	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:35400365C>T	ENST00000378495.3	+	36	4384	c.4162C>T	c.(4162-4164)Cgc>Tgc	p.R1388C	UNC13B_ENST00000378496.4_Missense_Mutation_p.R1388C|UNC13B_ENST00000396787.1_Missense_Mutation_p.R1400C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1388	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGTCTCTACGCTATGCCCT	0.522																																						uc003zwq.2		NaN																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(4162-4164)CGC>TGC		UNC13 (C. elegans)-like							278.0	236.0	250.0					9																	35400365		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35400365C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4162C>T	9.37:g.35400365C>T	ENSP00000367756:p.Arg1388Cys					UNC13B_uc003zwr.2_Missense_Mutation_p.R1388C	p.R1388C	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		36	4454	+	all_epithelial(49;0.212)		1388			MHD2.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.4162C>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413165	0.83449	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.75260	-0.92;-0.92;-0.92	5.19	5.19	0.71726	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	M	0.79258	2.445	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.56960	0.707;0.81	D	0.85835	0.1394	10	0.66056	D	0.02	-14.1555	19.2941	0.94115	0.0:1.0:0.0:0.0	.	1388;1388	F8W8M9;O14795	.;UN13B_HUMAN	C	1400;1388;1388;975	ENSP00000380006:R1400C;ENSP00000367756:R1388C;ENSP00000367757:R1388C	ENSP00000367756:R1388C	R	+	1	0	UNC13B	35390365	0.998000	0.40836	0.977000	0.42913	0.854000	0.48673	3.729000	0.54999	2.873000	0.98535	0.563000	0.77884	CGC		0.522	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1		NM_006377		119	174	0	0	0	0.00361	0	119	174		
TJP2	9414	broad.mit.edu	37	9	71844153	71844153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:71844153G>T	ENST00000377245.4	+	10	1715	c.1507G>T	c.(1507-1509)Gaa>Taa	p.E503*	TJP2_ENST00000535702.1_Nonsense_Mutation_p.E507*|TJP2_ENST00000348208.4_Nonsense_Mutation_p.E503*|TJP2_ENST00000539225.1_Nonsense_Mutation_p.E534*|TJP2_ENST00000265384.7_Nonsense_Mutation_p.E503*|TJP2_ENST00000453658.2_Nonsense_Mutation_p.E480*	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	503					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCCTGAAGATGAAGCAATATA	0.423																																						uc004ahe.2		NaN																	0					0						c.(1507-1509)GAA>TAA		tight junction protein 2 (zona occludens 2)							256.0	230.0	239.0					9																	71844153		2203	4300	6503	SO:0001587	stop_gained	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71844153G>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1507G>T	9.37:g.71844153G>T	ENSP00000366453:p.Glu503*					TJP2_uc011lrs.1_Nonsense_Mutation_p.E480*|TJP2_uc011lrt.1_Nonsense_Mutation_p.E480*|TJP2_uc004ahd.2_Nonsense_Mutation_p.E503*|TJP2_uc004ahf.2_Nonsense_Mutation_p.E503*|TJP2_uc011lru.1_Nonsense_Mutation_p.E507*|TJP2_uc011lrv.1_Nonsense_Mutation_p.E525*	p.E503*	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			10	1707	+			503					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Nonsense_Mutation	SNP	ENST00000377245.4	37	c.1507G>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	40	8.337901	0.98767	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	.	.	.	5.85	4.95	0.65309	.	0.428320	0.25180	N	0.032529	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	12.1695	0.54150	0.0:0.1231:0.7347:0.1422	.	.	.	.	X	480;503;503;503;507;534	.	ENSP00000265384:E503X	E	+	1	0	TJP2	71033973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.488000	0.60300	1.445000	0.47624	0.557000	0.71058	GAA		0.423	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2		NM_201629		102	50	1	0	6.23295e-54	0.00361	6.83175e-54	102	50		
GALNT12	79695	broad.mit.edu	37	9	101570311	101570311	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:101570311A>G	ENST00000375011.3	+	1	331	c.331A>G	c.(331-333)Atc>Gtc	p.I111V		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	111					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CAGCGACCGCATCTCACTGCA	0.692																																						uc004ayz.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(331-333)ATC>GTC		N-acetylgalactosaminyltransferase 12							8.0	9.0	8.0					9																	101570311		2173	4242	6415	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101570311A>G	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.331A>G	9.37:g.101570311A>G	ENSP00000364150:p.Ile111Val						p.I111V	NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN			1	331	+		Acute lymphoblastic leukemia(62;0.0559)	111			Lumenal (Potential).		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.331A>G	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	a	15.42	2.828558	0.50845	.	.	ENSG00000119514	ENST00000375011	T	0.65178	-0.14	3.91	3.91	0.45181	.	0.163737	0.43747	D	0.000524	T	0.59810	0.2221	M	0.74647	2.275	0.32414	N	0.550253	B	0.17852	0.024	B	0.15870	0.014	T	0.68315	-0.5441	10	0.72032	D	0.01	.	9.307	0.37881	1.0:0.0:0.0:0.0	.	111	Q8IXK2	GLT12_HUMAN	V	111	ENSP00000364150:I111V	ENSP00000364150:I111V	I	+	1	0	GALNT12	100610132	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.813000	0.55636	1.758000	0.51981	0.370000	0.22315	ATC		0.692	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1		NM_024642		5	5	0	0	0	0.001168	0	5	5		
INVS	27130	broad.mit.edu	37	9	103002414	103002414	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:103002414G>T	ENST00000262457.2	+	6	873	c.688G>T	c.(688-690)Gct>Tct	p.A230S	INVS_ENST00000541287.1_Missense_Mutation_p.A134S|INVS_ENST00000262456.2_Missense_Mutation_p.A230S	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	230					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CTTTGCAGTTGCTGATGGGAA	0.463																																						uc004bap.1		NaN																	0				ovary(2)	2						c.(688-690)GCT>TCT		inversin isoform a							154.0	125.0	135.0					9																	103002414		2203	4300	6503	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103002414G>T	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.688G>T	9.37:g.103002414G>T	ENSP00000262457:p.Ala230Ser					INVS_uc010mta.1_Missense_Mutation_p.A134S|INVS_uc011lve.1_Missense_Mutation_p.A134S|INVS_uc004bao.1_Missense_Mutation_p.A230S|INVS_uc004baq.1_Missense_Mutation_p.A134S|INVS_uc004bar.1_Missense_Mutation_p.A134S|INVS_uc010mtb.1_5'UTR	p.A230S	NM_014425	NP_055240	Q9Y283	INVS_HUMAN			6	900	+		Acute lymphoblastic leukemia(62;0.056)	230			ANK 7.		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.688G>T	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464154	0.96257	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.63744	-0.06;-0.06;-0.06	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.049099	0.85682	D	0.000000	T	0.66713	0.2817	N	0.20401	0.57	0.80722	D	1	D;D;D	0.71674	0.966;0.998;0.996	P;D;D	0.74674	0.878;0.984;0.919	T	0.62034	-0.6939	10	0.18710	T	0.47	.	19.3153	0.94211	0.0:0.0:1.0:0.0	.	134;230;230	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	S	230;134;230	ENSP00000262457:A230S;ENSP00000444454:A134S;ENSP00000262456:A230S	ENSP00000262456:A230S	A	+	1	0	INVS	102042235	1.000000	0.71417	0.960000	0.40013	0.998000	0.95712	9.869000	0.99810	2.565000	0.86533	0.650000	0.86243	GCT		0.463	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1		NM_014425		32	59	1	0	4.11147e-13	0.003755	4.29992e-13	32	59		
C9orf78	51759	broad.mit.edu	37	9	132590500	132590500	+	Silent	SNP	G	G	A	rs147768922	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:132590500G>A	ENST00000372447.3	-	9	863	c.810C>T	c.(808-810)aaC>aaT	p.N270N	C9orf78_ENST00000461762.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	270						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TTGCCTTCTCGTTAGCAGGAC	0.478																																						uc004byp.2		NaN																	0					0						c.(808-810)AAC>AAT		chromosome 9 open reading frame 78		G		1,4405	2.1+/-5.4	0,1,2202	197.0	171.0	180.0		810	-11.1	0.3	9	dbSNP_134	180	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C9orf78	NM_016520.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		270/290	132590500	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51759							g.chr9:132590500G>A	BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.810C>T	9.37:g.132590500G>A						C9orf78_uc004byo.2_Missense_Mutation_p.T185M	p.N270N	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN			9	882	-		Ovarian(14;0.00556)	270					B3KPX8|Q8WVU6|Q9NT39	Silent	SNP	ENST00000372447.3	37	c.810C>T	CCDS6931.1																																																																																				0.478	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054625.1		NM_016520		57	69	0	0	0	0.00361	0	57	69		
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:137328351C>A	ENST00000481739.1	+	10	1332	c.1280C>A	c.(1279-1281)tCc>tAc	p.S427Y	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.S330Y	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCTCTGCGCTCCATCGGGCTC	0.607																																						uc004cfb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1279-1281)TCC>TAC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						132.0	117.0	122.0					9																	137328351		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328351C>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1280C>A	9.37:g.137328351C>A	ENSP00000419692:p.Ser427Tyr					RXRA_uc004cfc.1_Missense_Mutation_p.S330Y	p.S427Y	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	10	1442	+			427			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.1280C>A	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763145	0.89932	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96913	-4.17;-4.17	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99823	1.1048	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	427	P19793	RXRA_HUMAN	Y	427;330	ENSP00000419692:S427Y;ENSP00000442123:S330Y	ENSP00000419692:S427Y	S	+	2	0	RXRA	136468172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.532000	0.81985	2.193000	0.70182	0.591000	0.81541	TCC		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		72	36	1	0	3.47803e-31	0.00361	3.76287e-31	72	36		
WWC3	55841	broad.mit.edu	37	X	10093067	10093067	+	Silent	SNP	C	C	T	rs11544574	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:10093067C>T	ENST00000380861.4	+	14	2221	c.1830C>T	c.(1828-1830)cgC>cgT	p.R610R	WWC3_ENST00000454666.1_Silent_p.R610R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	610					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TTCCTAGGCGCGACAGTGGCA	0.607																																						uc004csx.3		NaN																	0				ovary(4)	4						c.(1828-1830)CGC>CGT		WWC family member 3		C		1,3834		0,1,1631,571	40.0	34.0	36.0		1830	-8.6	0.0	X	dbSNP_120	36	0,6728		0,0,2428,1872	no	coding-synonymous	WWC3	NM_015691.3		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		610/1093	10093067	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10093067C>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1830C>T	X.37:g.10093067C>T						WWC3_uc010nds.2_Silent_p.R274R|WWC3_uc010ndt.2_RNA	p.R610R	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			14	2028	+			610					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.1830C>T	CCDS14136.1																																																																																				0.607	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1		NM_015691		14	27	0	0	0	0.00245	0	14	27		
BMX	660	broad.mit.edu	37	X	15526533	15526533	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:15526533G>C	ENST00000357607.2	+	2	245	c.57G>C	c.(55-57)aaG>aaC	p.K19N	BMX_ENST00000348343.6_Missense_Mutation_p.K19N|BMX_ENST00000342014.6_Missense_Mutation_p.K19N|BMX_ENST00000463891.1_3'UTR			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	19	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGCAAAAGAAGAAAATGTCAC	0.294																																						uc004cww.2		NaN																	0				lung(3)|ovary(2)	5						c.(55-57)AAG>AAC		BMX non-receptor tyrosine kinase							42.0	43.0	43.0					X																	15526533		2203	4285	6488	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15526533G>C	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.57G>C	X.37:g.15526533G>C	ENSP00000350224:p.Lys19Asn					BMX_uc004cwx.3_Missense_Mutation_p.K19N|BMX_uc004cwy.3_Missense_Mutation_p.K19N	p.K19N	NM_203281	NP_975010	P51813	BMX_HUMAN			2	245	+	Hepatocellular(33;0.183)		19			PH.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.57G>C	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377793	0.61735	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.93906	-3.31;-3.31;-3.31	5.67	4.8	0.61643	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.186076	0.37530	N	0.002059	D	0.94608	0.8262	L	0.55481	1.735	0.37378	D	0.911911	D	0.76494	0.999	D	0.66847	0.947	D	0.95013	0.8153	10	0.56958	D	0.05	.	9.6375	0.39819	0.0973:0.0:0.9027:0.0	.	19	P51813	BMX_HUMAN	N	19	ENSP00000350224:K19N;ENSP00000308774:K19N;ENSP00000340082:K19N	ENSP00000340082:K19N	K	+	3	2	BMX	15436454	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.637000	0.46553	1.158000	0.42547	0.600000	0.82982	AAG		0.294	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1		NM_001721		47	8	0	0	0	0.00361	0	47	8		
KDM6A	7403	broad.mit.edu	37	X	44969327	44969327	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:44969327G>A	ENST00000377967.4	+	28	4050	c.4009G>A	c.(4009-4011)Gag>Aag	p.E1337K	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Missense_Mutation_p.E1344K|KDM6A_ENST00000536777.1_Missense_Mutation_p.E1292K|KDM6A_ENST00000543216.1_Missense_Mutation_p.E1258K	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1337					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.E1337*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAACAGGTGGAGGTTTTTGA	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		7	Whole gene deletion(6)|Substitution - Nonsense(1)		oesophagus(2)|breast(2)|pancreas(2)|urinary_tract(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(4009-4011)GAG>AAG		ubiquitously transcribed tetratricopeptide							80.0	73.0	75.0					X																	44969327		2203	4299	6502	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969327G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4009G>A	X.37:g.44969327G>A	ENSP00000367203:p.Glu1337Lys					KDM6A_uc011mkz.1_Missense_Mutation_p.E1389K|KDM6A_uc011mla.1_Missense_Mutation_p.E1292K|KDM6A_uc011mlb.1_Missense_Mutation_p.E1344K|KDM6A_uc011mlc.1_Missense_Mutation_p.E1041K|KDM6A_uc011mld.1_Missense_Mutation_p.E976K	p.E1337K	NM_021140	NP_066963	O15550	KDM6A_HUMAN			28	4384	+			1337					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.4009G>A	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.254905|5.254905	0.95336|0.95336	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797;ENST00000431196	T;T;T;T|.	0.25579|.	1.81;1.79;1.79;1.79|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82323|0.82323	0.5012|0.5012	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.993;0.996;0.999;1.0;0.998|.	D;D;D;D;D|.	0.87578|.	0.971;0.987;0.998;0.998;0.993|.	D|D	0.83431|0.83431	0.0038|0.0038	10|5	0.87932|.	D|.	0|.	-13.155|-13.155	18.8218|18.8218	0.92100|0.92100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	976;1344;1292;1389;1337|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550|.	.;.;.;.;KDM6A_HUMAN|.	K|E	1034;1337;1292;1344;1258|934;979;96	ENSP00000367203:E1337K;ENSP00000437405:E1292K;ENSP00000372355:E1344K;ENSP00000443078:E1258K|.	ENSP00000334340:E1034K|.	E|G	+|+	1|2	0|0	KDM6A|KDM6A	44854271|44854271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.471000|9.471000	0.97696|0.97696	2.391000|2.391000	0.81399|0.81399	0.600000|0.600000	0.82982|0.82982	GAG|GGA		0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		32	11	0	0	0	0.004289	0	32	11		
AFF2	2334	broad.mit.edu	37	X	148072790	148072790	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:148072790C>A	ENST00000370460.2	+	21	4343	c.3864C>A	c.(3862-3864)agC>agA	p.S1288R	AFF2_ENST00000286437.5_Missense_Mutation_p.S929R|AFF2_ENST00000370457.5_Missense_Mutation_p.S1253R|AFF2_ENST00000342251.3_Missense_Mutation_p.S1255R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1288					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCACAGCAGCATGACCA	0.493																																						uc004fcp.2		NaN																	0				ovary(3)|pancreas(2)	5						c.(3862-3864)AGC>AGA		fragile X mental retardation 2							217.0	155.0	176.0					X																	148072790		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148072790C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3864C>A	X.37:g.148072790C>A	ENSP00000359489:p.Ser1288Arg					AFF2_uc004fcq.2_Missense_Mutation_p.S1278R|AFF2_uc004fcr.2_Missense_Mutation_p.S1249R|AFF2_uc011mxb.1_Missense_Mutation_p.S1253R|AFF2_uc004fcs.2_Missense_Mutation_p.S1253R|AFF2_uc011mxc.1_Missense_Mutation_p.S929R	p.S1288R	NM_002025	NP_002016	P51816	AFF2_HUMAN			21	4343	+	Acute lymphoblastic leukemia(192;6.56e-05)		1288					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3864C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140706	0.77775	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.86326	0.5906	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.99;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.986;0.998;0.998;0.998;0.999	D	0.88570	0.3129	10	0.87932	D	0	.	18.3933	0.90490	0.0:1.0:0.0:0.0	.	929;1253;1253;1249;1278;1288	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	R	1288;1253;1255;929	ENSP00000359489:S1288R;ENSP00000359486:S1253R;ENSP00000345459:S1255R;ENSP00000286437:S929R	ENSP00000286437:S929R	S	+	3	2	AFF2	147880496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.969000	0.70422	2.283000	0.76528	0.600000	0.82982	AGC		0.493	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2		NM_002025		55	97	1	0	1.41595e-48	0.00361	1.54523e-48	55	97		
ATP2B3	492	broad.mit.edu	37	X	152815032	152815032	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:152815032C>T	ENST00000349466.2	+	10	1742	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	ATP2B3_ENST00000393842.1_Silent_p.S458S|ATP2B3_ENST00000359149.3_Silent_p.S472S|ATP2B3_ENST00000263519.4_Silent_p.S472S|ATP2B3_ENST00000370186.1_Silent_p.S458S|ATP2B3_ENST00000370181.2_Silent_p.S458S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	472					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATCTGCTCCGACAAGACGG	0.607																																						uc004fht.1		NaN																	0				pancreas(1)	1						c.(1414-1416)TCC>TCT		plasma membrane calcium ATPase 3 isoform 3b							179.0	138.0	152.0					X																	152815032		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815032C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1416C>T	X.37:g.152815032C>T						ATP2B3_uc004fhs.1_Silent_p.S472S	p.S472S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			9	1542	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		472			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.1416C>T	CCDS35440.1																																																																																				0.607	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1		NM_021949		95	17	0	0	0	0.00361	0	95	17		
UTY	7404	broad.mit.edu	37	Y	15435627	15435627	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrY:15435627G>C	ENST00000331397.4	-	19	3800	c.2793C>G	c.(2791-2793)ttC>ttG	p.F931L	UTY_ENST00000537580.1_Missense_Mutation_p.F852L|UTY_ENST00000362096.4_Missense_Mutation_p.F931L|UTY_ENST00000540140.1_Missense_Mutation_p.F928L|UTY_ENST00000329134.5_Missense_Mutation_p.F931L|UTY_ENST00000382896.4_Missense_Mutation_p.F976L|UTY_ENST00000545955.1_Missense_Mutation_p.F1006L|UTY_ENST00000538878.1_Missense_Mutation_p.F898L	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	931					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						TTTTGGTAGAGAAAAGTCCAA	0.318																																					Colon(103;1740 2135 40732 45171)	uc004fsx.1		NaN																	0					0						c.(2791-2793)TTC>TTG		tetratricopeptide repeat protein isoform 3																																				SO:0001583	missense	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15435627G>C	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.2793C>G	Y.37:g.15435627G>C	ENSP00000328939:p.Phe931Leu					UTY_uc004fsw.1_Missense_Mutation_p.F594L|UTY_uc010nwx.1_5'UTR|UTY_uc004fsy.2_Missense_Mutation_p.F931L|UTY_uc004fsz.2_Missense_Mutation_p.F931L	p.F931L	NM_007125	NP_009056	O14607	UTY_HUMAN			19	3798	-			931					A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	ENST00000331397.4	37	c.2793C>G	CCDS14783.1																																																																																				0.318	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1		NM_182660		18	3	0	0	0	0.008871	0	18	3		
UTY	7404	broad.mit.edu	37	Y	15466934	15466934	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrY:15466934C>T	ENST00000331397.4	-	15	2726	c.1719G>A	c.(1717-1719)ctG>ctA	p.L573L	UTY_ENST00000537580.1_Intron|UTY_ENST00000362096.4_Silent_p.L573L|UTY_ENST00000540140.1_Silent_p.L570L|UTY_ENST00000329134.5_Silent_p.L573L|UTY_ENST00000382896.4_Silent_p.L618L|UTY_ENST00000545955.1_Silent_p.L648L|UTY_ENST00000538878.1_Silent_p.L540L	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	573					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						TGCTGCTGTTCAGGTCTGTAT	0.408																																					Colon(103;1740 2135 40732 45171)	uc004fsx.1		NaN																	0					0						c.(1717-1719)CTG>CTA		tetratricopeptide repeat protein isoform 3							59.0	52.0	54.0					Y																	15466934		597	1939	2536	SO:0001819	synonymous_variant	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15466934C>T	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.1719G>A	Y.37:g.15466934C>T						UTY_uc004fsw.1_Silent_p.L236L|UTY_uc010nwx.1_5'UTR|UTY_uc004fsy.2_Silent_p.L573L|UTY_uc004fsz.2_Silent_p.L573L	p.L573L	NM_007125	NP_009056	O14607	UTY_HUMAN			15	2724	-			573					A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Silent	SNP	ENST00000331397.4	37	c.1719G>A	CCDS14783.1																																																																																				0.408	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1		NM_182660		13	8	0	0	0	0.00499	0	13	8		
SLC38A2	54407	broad.mit.edu	37	12	46757539	46757540	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:46757539_46757540insA	ENST00000256689.5	-	12	1467_1468	c.1023_1024insT	c.(1021-1026)cttgccfs	p.A342fs	SLC38A2_ENST00000547252.1_5'Flank|SLC38A2_ENST00000551374.1_Frame_Shift_Ins_p.A180fs	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	342					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAGAGGGCGGCAAGCAGATACA	0.347																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.2		NaN																	0				urinary_tract(1)|skin(1)	2						c.(1021-1026)CTTGCCfs		solute carrier family 38, member 2																																				SO:0001589	frameshift_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46757539_46757540insA	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1024dupT	12.37:g.46757541_46757541dupA	ENSP00000256689:p.Ala342fs					SLC38A2_uc010sli.1_Frame_Shift_Ins_p.L179fs|SLC38A2_uc001rph.2_Frame_Shift_Ins_p.L241fs	p.L341fs	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	12	1463_1464	-	Lung SC(27;0.192)|Renal(347;0.236)		341_342			Helical; (Potential).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Frame_Shift_Ins	INS	ENST00000256689.5	37	c.1023_1024insT	CCDS8749.1																																																																																				0.347	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1				49	46	NaN	NaN	NaN	NaN	NaN	49	46	---	---
LRCH1	23143	broad.mit.edu	37	13	47243183	47243186	+	Frame_Shift_Del	DEL	CCTG	CCTG	-	rs564905243	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr13:47243183_47243186delCCTG	ENST00000389798.3	+	3	668_671	c.471_474delCCTG	c.(469-474)gccctgfs	p.AL157fs	LRCH1_ENST00000311191.6_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	157										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCTGTCCGCCCTGCCTGCCTGCC	0.436																																						uc001vbj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(469-474)GCCCTGfs		leucine-rich repeats and calponin homology (CH)																																				SO:0001589	frameshift_variant	23143							g.chr13:47243183_47243186delCCTG	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.471_474delCCTG	13.37:g.47243191_47243194delCCTG	ENSP00000374448:p.Ala157fs					LRCH1_uc010acp.2_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbk.2_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbl.3_Frame_Shift_Del_p.A157fs	p.A157fs	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	3	707_710	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	157_158			LRR 3.		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Frame_Shift_Del	DEL	ENST00000389798.3	37	c.471_474delCCTG	CCDS31972.1																																																																																				0.436	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2		NM_015116		7	318	NaN	NaN	NaN	NaN	NaN	7	318	---	---
THSD4	79875	broad.mit.edu	37	15	72039168	72039176	+	Splice_Site	DEL	CTGAACCAG	CTGAACCAG	-	rs369458190	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:72039168_72039176delCTGAACCAG	ENST00000355327.3	+	13	2170		c.e13-1		THSD4_ENST00000567838.1_Splice_Site|THSD4_ENST00000357769.4_Splice_Site|THSD4_ENST00000261862.6_Splice_Site			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4						elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCTCATTCCTGAACCAGCTGGGACATC	0.584																																						uc002atb.1		NaN																	0				ovary(2)	2						c.e12-1		thrombospondin, type I, domain containing 4																																				SO:0001630	splice_region_variant	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72039168_72039176delCTGAACCAG	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2037-1CTGAACCAG>-	15.37:g.72039168_72039176delCTGAACCAG						THSD4_uc002ate.2_Splice_Site_p.F319_splice	p.F679_splice	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			12	2116	+								B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Splice_Site	DEL	ENST00000355327.3	37	c.2037_splice	CCDS10238.2																																																																																				0.584	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2		NM_024817	Intron	12	101	NaN	NaN	NaN	NaN	NaN	12	101	---	---
MKL2	57496	broad.mit.edu	37	16	14354763	14354764	+	Intron	INS	-	-	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:14354763_14354764insA	ENST00000341243.5	+	15	2731				MKL2_ENST00000571589.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2						blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTATTTTACACAGAGATCTCCC	0.361																																						uc010uza.1		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.e17-2		megakaryoblastic leukemia 2 protein																																				SO:0001627	intron_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14354763_14354764insA	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2732-2->A	16.37:g.14354764_14354764dupA						MKL2_uc002dcg.2_Splice_Site_p.E872_splice|MKL2_uc002dcj.2_Splice_Site_p.E167_splice	p.E922_splice	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			17	2920	+								A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Splice_Site	INS	ENST00000341243.5	37	c.2765_splice																																																																																					0.361	MKL2-202	KNOWN	basic	protein_coding	protein_coding			NM_014048		27	81	NaN	NaN	NaN	NaN	NaN	27	81	---	---
FBXW9	84261	broad.mit.edu	37	19	12800930	12800931	+	In_Frame_Ins	INS	-	-	GAA	rs376353864		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:12800930_12800931insGAA	ENST00000380339.3	-	6	1003_1004	c.967_968insTTC	c.(967-969)cat>cTTCat	p.322_323insL	CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000587955.1_In_Frame_Ins_p.312_313insL|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000393261.3_Intron			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	322					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GCCGGCTTCATGGGTGATGGGC	0.634																																						uc010dyx.2		NaN																	0				ovary(1)	1						c.(937-939)CAT>CTTCAT		F-box and WD-40 domain protein 9																																				SO:0001652	inframe_insertion	84261						protein binding	g.chr19:12800930_12800931insGAA	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.967_968insTTC	19.37:g.12800930_12800931insGAA	ENSP00000369696:p.Thr322_His323insLeu					FBXW9_uc010xmp.1_Intron|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron|FBXW9_uc002mun.1_Intron	p.312_313insL	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN			6	937_938	-			322_323					B3KVP7|Q9BT89	In_Frame_Ins	INS	ENST00000380339.3	37	c.937_938insTTC																																																																																					0.634	FBXW9-201	KNOWN	basic	protein_coding	protein_coding			NM_032301		23	109	NaN	NaN	NaN	NaN	NaN	23	109	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						uc002rgs.2		NaN																	0				pancreas(1)	1						c.(349-354)AGCAGT>AGT		additional sex combs like 2																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del						p.117_118SS>S	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			4	572_574	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117_118			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		7	312	NaN	NaN	NaN	NaN	NaN	7	312	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						uc003dtx.3		NaN																	0					0						c.(13-15)GATdel		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	p.D10del	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1				9	695	NaN	NaN	NaN	NaN	NaN	9	695	---	---
MFSD10	10227	broad.mit.edu	37	4	2932969	2932969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:2932969delC	ENST00000329687.4	-	10	1681	c.1147delG	c.(1147-1149)gtgfs	p.V384fs	MFSD10_ENST00000355443.4_Frame_Shift_Del_p.V384fs|MFSD10_ENST00000508221.1_Intron|MFSD10_ENST00000514800.1_Frame_Shift_Del_p.V384fs|MFSD10_ENST00000507555.1_Frame_Shift_Del_p.P346fs	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	384					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCAGCGACCACGGAGGACAGG	0.692																																						uc003gfw.2		NaN																	0					0						c.(1147-1149)GTGfs		major facilitator superfamily domain containing							26.0	30.0	29.0					4																	2932969		2165	4282	6447	SO:0001589	frameshift_variant	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2932969delC	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.1147delG	4.37:g.2932969delC	ENSP00000332646:p.Val384fs					MFSD10_uc003gfv.2_Frame_Shift_Del_p.V73fs|MFSD10_uc003gfx.2_Frame_Shift_Del_p.V207fs|MFSD10_uc003gfz.2_Frame_Shift_Del_p.V383fs|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Frame_Shift_Del_p.P346fs|MFSD10_uc003ggb.1_Frame_Shift_Del_p.V383fs|MFSD10_uc003ggc.2_Intron	p.V383fs	NM_001120	NP_001111	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	10	1461	-			383					Q07706	Frame_Shift_Del	DEL	ENST00000329687.4	37	c.1147delG	CCDS3365.1																																																																																				0.692	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2		NM_001120		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
HHIP	64399	broad.mit.edu	37	4	145567851	145567853	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:145567851_145567853delGCT	ENST00000296575.3	+	1	679_681	c.24_26delGCT	c.(22-27)aagctg>aag	p.L12del	HHIP-AS1_ENST00000512359.1_RNA|HHIP-AS1_ENST00000508269.1_RNA|HHIP-AS1_ENST00000503066.1_RNA|HHIP_ENST00000434550.2_In_Frame_Del_p.L12del	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	12					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCTCCTTTAAGCTGCTGCTGCTG	0.621											OREG0016346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ijs.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(22-27)AAGCTG>AAG		hedgehog-interacting protein precursor																																				SO:0001651	inframe_deletion	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145567851_145567853delGCT	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.24_26delGCT	4.37:g.145567860_145567862delGCT	ENSP00000296575:p.Leu12del		OREG0016346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1695	uc003ijq.1_5'Flank|HHIP_uc003ijr.1_In_Frame_Del_p.L12del	p.L12del	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	1	679_681	+	all_hematologic(180;0.151)		12					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	In_Frame_Del	DEL	ENST00000296575.3	37	c.24_26delGCT	CCDS3762.1																																																																																				0.621	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2				7	536	NaN	NaN	NaN	NaN	NaN	7	536	---	---
RP1L1	94137	broad.mit.edu	37	8	10467629	10467630	+	In_Frame_Ins	INS	-	-	TTC	rs386722178|rs146656804|rs367656981|rs374529674|rs139405108		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:10467629_10467630insTTC	ENST00000382483.3	-	4	4201_4202	c.3978_3979insGAA	c.(3976-3981)aaaaca>aaaGAAaca	p.1326_1327KT>KET		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1342	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|TE -> VI (in allele RP1L1-3).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ccttcttctgttttagtttcct	0.455																																						uc003wtc.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3976-3981)insGAA		retinitis pigmentosa 1-like 1																																				SO:0001652	inframe_insertion	94137				intracellular signal transduction			g.chr8:10467629_10467630insTTC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3978_3979insGAA	8.37:g.10467629_10467630insTTC	ENSP00000371923:p.Lys1326_Thr1327insGlu						p.1326_1327insE	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4207_4208	-			1326_1327					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Ins	INS	ENST00000382483.3	37	c.3978_3979insGAA	CCDS43708.1																																																																																				0.455	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1				4	5	NaN	NaN	NaN	NaN	NaN	4	5	---	---
