#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
RAP1GAP	5909	broad.mit.edu	37	1	21934840	21934840	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr1:21934840G>A	ENST00000374765.4	-	17	1362	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.R388W|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.R452W|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.R419W|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.R388W	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	388	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCCCGCGTCCGCTCCTGTGGG	0.647																																						uc001bex.2		NaN																	0				breast(2)|ovary(1)	3						c.(1162-1164)CGG>TGG		RAP1 GTPase activating protein isoform c							36.0	37.0	37.0					1																	21934840		2203	4298	6501	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21934840G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1162C>T	1.37:g.21934840G>A	ENSP00000363897:p.Arg388Trp					RAP1GAP_uc001bev.2_Missense_Mutation_p.R388W|RAP1GAP_uc001bew.2_Missense_Mutation_p.R452W|RAP1GAP_uc001bey.2_Missense_Mutation_p.R388W	p.R388W	NM_002885	NP_002876	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	17	1420	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	388			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1162C>T	CCDS218.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449817	0.84101	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	4.9	4.9	0.64082	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	H	0.97783	4.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.985;0.927;0.996;0.973	D	0.99683	1.0999	10	0.87932	D	0	-12.6952	15.5443	0.76081	0.0:0.0:1.0:0.0	.	388;388;418;388	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	W	452;419;388;388;418;388	ENSP00000290101:R452W;ENSP00000363893:R419W;ENSP00000441661:R388W;ENSP00000363897:R388W	ENSP00000290101:R452W	R	-	1	2	RAP1GAP	21807427	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.373000	0.59537	2.267000	0.75376	0.407000	0.27541	CGG		0.647	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2		NM_002885		3	31	0	0	0	0.004672	0	3	31		
TCHHL1	126637	broad.mit.edu	37	1	152058669	152058669	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr1:152058669C>G	ENST00000368806.1	-	3	1553	c.1489G>C	c.(1489-1491)Gaa>Caa	p.E497Q		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	497							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTGTTCTTTCTCTTGCCCCC	0.478																																						uc001ezo.1		NaN																	0				ovary(1)|skin(1)	2						c.(1489-1491)GAA>CAA		trichohyalin-like 1							245.0	209.0	221.0					1																	152058669		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058669C>G		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1489G>C	1.37:g.152058669C>G	ENSP00000357796:p.Glu497Gln						p.E497Q	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1554	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		497					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1489G>C	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	15.19	2.758874	0.49468	.	.	ENSG00000182898	ENST00000368806	T	0.33438	1.41	5.59	3.71	0.42584	.	0.169966	0.28182	N	0.016300	T	0.09862	0.0242	L	0.52573	1.65	0.09310	N	1	P	0.47841	0.901	B	0.36922	0.236	T	0.09618	-1.0666	10	0.32370	T	0.25	-7.1228	8.0039	0.30313	0.0:0.7549:0.1594:0.0857	.	497	Q5QJ38	TCHL1_HUMAN	Q	497	ENSP00000357796:E497Q	ENSP00000357796:E497Q	E	-	1	0	TCHHL1	150325293	0.203000	0.23435	0.020000	0.16555	0.004000	0.04260	2.324000	0.43831	0.714000	0.32081	-0.182000	0.12963	GAA		0.478	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2		XM_060104		33	168	0	0	0	0.017118	0	33	168		
FAM129A	116496	broad.mit.edu	37	1	184787960	184787960	+	Splice_Site	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr1:184787960C>T	ENST00000367511.3	-	9	1179		c.e9-1		FAM129A_ENST00000487074.1_Splice_Site|RNU7-13P_ENST00000516413.1_RNA	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A						negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCCACCATCGCTGAGGTAGGA	0.562																																						uc001gra.2		NaN																	0				ovary(3)|skin(1)	4						c.e9-1		niban protein isoform 2							78.0	82.0	81.0					1																	184787960		2203	4300	6503	SO:0001630	splice_region_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184787960C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.986-1G>A	1.37:g.184787960C>T						FAM129A_uc001grb.1_Splice_Site_p.A92_splice|FAM129A_uc009wyh.1_Splice_Site_p.A157_splice|FAM129A_uc009wyi.1_Splice_Site_p.A127_splice	p.A329_splice	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			9	1180	-								Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Splice_Site	SNP	ENST00000367511.3	37	c.986_splice	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608184	0.66558	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9649	0.86283	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM129A	183054583	1.000000	0.71417	0.760000	0.31359	0.714000	0.41099	6.389000	0.73199	2.495000	0.84180	0.557000	0.71058	.		0.562	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			Intron	33	114	0	0	0	0.019004	0	33	114		
OBSCN	84033	broad.mit.edu	37	1	228462331	228462331	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr1:228462331C>T	ENST00000422127.1	+	20	5786	c.5742C>T	c.(5740-5742)ggC>ggT	p.G1914G	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000284548.11_Silent_p.G1914G|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Silent_p.G761G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.G2289G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1914	Ig-like 19.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGAGGGCGGCGAGGCCACCT	0.627																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(5740-5742)GGC>GGT		obscurin, cytoskeletal calmodulin and							36.0	51.0	46.0					1																	228462331		2128	4236	6364	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228462331C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5742C>T	1.37:g.228462331C>T						OBSCN_uc001hsn.2_Silent_p.G1914G	p.G1914G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			20	5786	+		Prostate(94;0.0405)	1914			Ig-like 19.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.5742C>T	CCDS58065.1																																																																																				0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		7	16	0	0	0	0.004482	0	7	16		
FAM188A	80013	broad.mit.edu	37	10	15863726	15863726	+	Splice_Site	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr10:15863726C>T	ENST00000277632.3	-	9	951		c.e9-1		FAM188A_ENST00000477891.1_Splice_Site	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A						apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCAAGAAGTTCTGCAAAAAAC	0.289																																					Pancreas(159;946 1953 2111 4475 22008)	uc001iod.1		NaN																	0				ovary(1)	1						c.e9-1		chromosome 10 open reading frame 97							79.0	76.0	77.0					10																	15863726		2202	4300	6502	SO:0001630	splice_region_variant	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15863726C>T	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.731-1G>A	10.37:g.15863726C>T						FAM188A_uc001ioe.1_Splice_Site_p.K71_splice|FAM188A_uc001iof.1_Splice_Site_p.K244_splice	p.K244_splice	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN			9	952	-								Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Splice_Site	SNP	ENST00000277632.3	37	c.731_splice	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172145	0.78452	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9876	0.89159	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM188A	15903732	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.901000	0.75693	2.613000	0.88420	0.467000	0.42956	.		0.289	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2		NM_024948	Intron	8	28	0	0	0	0.004482	0	8	28		
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:534286C>G	ENST00000451590.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000417302.1_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		88	Substitution - Missense(87)|Insertion - In frame(1)	p.G13R(34)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM060018	HRAS	M	rs104894228	c.(37-39)GGT>CGT		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						85.0	80.0	82.0					11																	534286		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534286C>G	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.37G>C	11.37:g.534286C>G	ENSP00000407586:p.Gly13Arg	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G13R|HRAS_uc010qvx.1_Missense_Mutation_p.G13R|HRAS_uc010qvy.1_RNA	p.G13R	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	225	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> D (in FCSS).|G -> C (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.37G>C	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589995	0.66105	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.967;0.981	D	0.86952	0.2086	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	R	13	ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R	ENSP00000309845:G13R	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2		NM_176795		18	10	0	0	0	0.006122	0	18	10		
TRIM68	55128	broad.mit.edu	37	11	4621770	4621770	+	Silent	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:4621770C>G	ENST00000300747.5	-	7	1483	c.1194G>C	c.(1192-1194)ctG>ctC	p.L398L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	398	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L398L(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCCCTTCCTCAGCCTTATCA	0.557																																						uc001lzf.1		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1192-1194)CTG>CTC		ring finger protein 137							85.0	75.0	78.0					11																	4621770		2201	4298	6499	SO:0001819	synonymous_variant	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4621770C>G	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1194G>C	11.37:g.4621770C>G						TRIM68_uc001lzg.1_Silent_p.L175L|TRIM68_uc010qyj.1_RNA	p.L398L	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	7	1432	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	398			B30.2/SPRY.		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Silent	SNP	ENST00000300747.5	37	c.1194G>C	CCDS31356.1																																																																																				0.557	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1		NM_018073		12	41	0	0	0	0.020292	0	12	41		
C11orf58	10944	broad.mit.edu	37	11	16774368	16774368	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:16774368C>G	ENST00000228136.4	+	4	623	c.245C>G	c.(244-246)tCt>tGt	p.S82C	C11orf58_ENST00000422258.2_Missense_Mutation_p.S38C|C11orf58_ENST00000525684.1_Missense_Mutation_p.L62V			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	82										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						GAACTGGAGTCTCAATATCAG	0.348																																						uc001mmk.2		NaN																	0					0						c.(244-246)TCT>TGT		small acidic protein isoform a							123.0	117.0	119.0					11																	16774368		2200	4294	6494	SO:0001583	missense	10944							g.chr11:16774368C>G	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.245C>G	11.37:g.16774368C>G	ENSP00000228136:p.Ser82Cys					C11orf58_uc010rct.1_Missense_Mutation_p.S38C	p.S82C	NM_014267	NP_055082	O00193	SMAP_HUMAN			4	423	+			82					B2RD28	Missense_Mutation	SNP	ENST00000228136.4	37	c.245C>G	CCDS7822.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.119767|3.119767	0.56613|0.56613	.|.	.|.	ENSG00000110696|ENSG00000110696	ENST00000525684|ENST00000228136;ENST00000524439;ENST00000422258;ENST00000528634	.|.	.|.	.|.	5.57|5.57	4.66|4.66	0.58398|0.58398	.|.	.|0.332930	.|0.38326	.|N	.|0.001723	T|T	0.39517|0.39517	0.1081|0.1081	N|N	0.22421|0.22421	0.69|0.69	0.29558|0.29558	N|N	0.850866|0.850866	.|D	.|0.55605	.|0.972	.|P	.|0.54460	.|0.753	T|T	0.29458|0.29458	-1.0011|-1.0011	6|9	0.62326|0.44086	D|T	0.03|0.13	.|.	9.3842|9.3842	0.38333|0.38333	0.1428:0.7852:0.0:0.072|0.1428:0.7852:0.0:0.072	.|.	.|82	.|O00193	.|SMAP_HUMAN	V|C	62|82;54;38;82	.|.	ENSP00000432534:L62V|ENSP00000228136:S82C	L|S	+|+	1|2	0|0	C11orf58|C11orf58	16730944|16730944	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	4.081000|4.081000	0.57627|0.57627	1.353000|1.353000	0.45828|0.45828	-0.140000|-0.140000	0.14226|0.14226	CTC|TCT		0.348	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2		NM_014267		42	7	0	0	0	0.013114	0	42	7		
PTPRJ	5795	broad.mit.edu	37	11	48158582	48158582	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:48158582T>C	ENST00000418331.2	+	10	2253	c.1901T>C	c.(1900-1902)gTa>gCa	p.V634A		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	634	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AACATTGATGTAAGTACCAAC	0.408																																						uc001ngp.3		NaN																	0				breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(1900-1902)GTA>GCA		protein tyrosine phosphatase, receptor type, J							130.0	119.0	123.0					11																	48158582		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48158582T>C	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1901T>C	11.37:g.48158582T>C	ENSP00000400010:p.Val634Ala					PTPRJ_uc010rhr.1_Missense_Mutation_p.V79A	p.V634A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			10	2256	+			634			Extracellular (Potential).|Fibronectin type-III 7.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.1901T>C	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.188213	0.38609	.	.	ENSG00000149177	ENST00000418331	T	0.55413	0.52	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37892	0.1020	N	0.20685	0.6	0.58432	D	0.999999	B	0.28128	0.201	B	0.32149	0.141	T	0.25676	-1.0125	9	0.12766	T	0.61	.	13.0011	0.58676	0.0:0.0:0.0:1.0	.	634	Q12913	PTPRJ_HUMAN	A	634	ENSP00000400010:V634A	ENSP00000400010:V634A	V	+	2	0	PTPRJ	48115158	0.654000	0.27367	0.020000	0.16555	0.012000	0.07955	3.917000	0.56424	2.324000	0.78689	0.533000	0.62120	GTA		0.408	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1				12	52	0	0	0	0.00499	0	12	52		
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T	rs369729738		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408																																						uc010ril.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(706-708)CGC>TGC		olfactory receptor, family 5, subfamily D,		C	CYS/ARG	0,4400		0,0,2200	134.0	119.0	124.0		706	-7.6	0.0	11		124	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5D13	NM_001001967.1	180	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	236/315	55541619	1,12991	2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541619C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.706C>T	11.37:g.55541619C>T	ENSP00000354800:p.Arg236Cys						p.R236C	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	706	+		all_epithelial(135;0.196)	236			Cytoplasmic (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.706C>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680976	0.29872	0.0	1.16E-4	ENSG00000198877	ENST00000361760	T	0.00337	8.05	3.82	-7.64	0.01286	GPCR, rhodopsin-like superfamily (1);	0.690085	0.10966	N	0.614455	T	0.00300	0.0009	M	0.91663	3.23	0.09310	N	1	B	0.24823	0.112	B	0.24269	0.052	T	0.42783	-0.9431	10	0.66056	D	0.02	-0.5898	2.0261	0.03519	0.5273:0.1688:0.1033:0.2006	.	236	Q8NGL4	OR5DD_HUMAN	C	236	ENSP00000354800:R236C	ENSP00000354800:R236C	R	+	1	0	OR5D13	55298195	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.486000	0.06513	-1.025000	0.03334	-0.527000	0.04329	CGC		0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1		NM_001001967		19	58	0	0	0	0.016522	0	19	58		
ARAP1	116985	broad.mit.edu	37	11	72412694	72412694	+	Splice_Site	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:72412694C>G	ENST00000393609.3	-	16	2504	c.2302G>C	c.(2302-2304)Gag>Cag	p.E768Q	ARAP1_ENST00000393605.3_Splice_Site_p.E528Q|ARAP1_ENST00000334211.8_Splice_Site_p.E523Q|ARAP1_ENST00000495878.1_5'Flank|ARAP1_ENST00000426523.1_Splice_Site_p.E523Q|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Splice_Site_p.E768Q|ARAP1_ENST00000429686.1_Splice_Site_p.E462Q|ARAP1_ENST00000359373.5_Splice_Site_p.E768Q	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	768	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGCACCCACCTTCCCGGGCC	0.632																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NaN																	0				skin(1)	1						c.(2302-2304)GAG>CAG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							92.0	103.0	99.0					11																	72412694		2200	4293	6493	SO:0001630	splice_region_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72412694C>G	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2302+1G>C	11.37:g.72412694C>G						ARAP1_uc001osv.2_Missense_Mutation_p.E768Q|ARAP1_uc001osr.2_Missense_Mutation_p.E528Q|ARAP1_uc001oss.2_Missense_Mutation_p.E523Q|ARAP1_uc009yth.2_Missense_Mutation_p.E462Q|ARAP1_uc010rre.1_Missense_Mutation_p.E523Q|ARAP1_uc001osw.1_Missense_Mutation_p.E56Q	p.E768Q	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			16	2491	-			768			PH 3.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.2302G>C	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482182	0.84747	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383;ENST00000340247	T;T;T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.57	4.65	0.58169	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.057385	0.64402	D	0.000002	T	0.77980	0.4212	L	0.38531	1.155	0.37909	D	0.931311	D;D;D;D;D	0.65815	0.989;0.995;0.995;0.993;0.986	P;D;P;D;P	0.65443	0.901;0.92;0.848;0.935;0.84	T	0.77940	-0.2399	9	.	.	.	.	13.6423	0.62257	0.0:0.923:0.0:0.077	.	523;462;768;768;528	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	Q	768;768;528;523;768;523;462;56;56;557	ENSP00000352332:E768Q;ENSP00000390461:E768Q;ENSP00000377230:E528Q;ENSP00000335506:E523Q;ENSP00000377233:E768Q;ENSP00000392264:E523Q;ENSP00000403127:E462Q;ENSP00000411452:E56Q;ENSP00000399118:E56Q	.	E	-	1	0	ARAP1	72090342	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	3.512000	0.53407	2.620000	0.88729	0.563000	0.77884	GAG		0.632	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		NM_001040118	Missense_Mutation	15	120	0	0	0	0.028581	0	15	120		
SORL1	6653	broad.mit.edu	37	11	121481797	121481797	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:121481797C>T	ENST00000260197.7	+	39	5381	c.5252C>T	c.(5251-5253)cCa>cTa	p.P1751L	SORL1_ENST00000525532.1_Missense_Mutation_p.P695L|SORL1_ENST00000534286.1_Missense_Mutation_p.P661L|SORL1_ENST00000527934.1_Missense_Mutation_p.P366L|SORL1_ENST00000532694.1_Missense_Mutation_p.P597L	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1751	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATCCCACCACCAGATATCCAC	0.418																																						uc001pxx.2		NaN																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(5251-5253)CCA>CTA		sortilin-related receptor containing LDLR class							120.0	113.0	116.0					11																	121481797		2202	4299	6501	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121481797C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5252C>T	11.37:g.121481797C>T	ENSP00000260197:p.Pro1751Leu					SORL1_uc010rzp.1_Missense_Mutation_p.P597L|SORL1_uc010rzq.1_Missense_Mutation_p.P366L	p.P1751L	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	39	5332	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1751			Extracellular (Potential).|Fibronectin type-III 3.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.5252C>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878841	0.72294	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.49	5.49	0.81192	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.063991	0.64402	D	0.000007	T	0.58836	0.2150	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.53436	-0.8439	10	0.33940	T	0.23	.	17.5158	0.87773	0.0:1.0:0.0:0.0	.	366;1751	E9PKB0;Q92673	.;SORL_HUMAN	L	1751;695;597;661;366	ENSP00000260197:P1751L;ENSP00000434634:P695L;ENSP00000432131:P597L;ENSP00000436447:P661L;ENSP00000435405:P366L	ENSP00000260197:P1751L	P	+	2	0	SORL1	120987007	0.979000	0.34478	0.948000	0.38648	0.739000	0.42172	4.728000	0.62000	2.733000	0.93635	0.655000	0.94253	CCA		0.418	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2		NM_003105		29	55	0	0	0	0.012213	0	29	55		
C11orf63	79864	broad.mit.edu	37	11	122756598	122756598	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:122756598C>A	ENST00000531316.1	+	1	133	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	C11orf63_ENST00000227349.2_Missense_Mutation_p.S14Y|C11orf63_ENST00000307257.6_Missense_Mutation_p.S14Y			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	14					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TCTATTCAATCTCCTGTCCTT	0.393																																						uc001pym.2		NaN																	0				ovary(3)	3						c.(40-42)TCT>TAT		hypothetical protein LOC79864 isoform 1							92.0	96.0	94.0					11																	122756598		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122756598C>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.41C>A	11.37:g.122756598C>A	ENSP00000431669:p.Ser14Tyr					C11orf63_uc001pyl.1_Missense_Mutation_p.S14Y	p.S14Y	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	2	338	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	14					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.41C>A	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672230	0.47781	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.55760	0.5;0.5	5.91	5.91	0.95273	.	0.000000	0.52532	D	0.000072	T	0.71634	0.3363	M	0.68317	2.08	0.36868	D	0.888757	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	T	0.76498	-0.2937	10	0.72032	D	0.01	-14.1665	17.2153	0.86941	0.0:1.0:0.0:0.0	.	14;14	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	Y	14	ENSP00000227349:S14Y;ENSP00000431669:S14Y	ENSP00000227349:S14Y	S	+	2	0	C11orf63	122261808	0.972000	0.33761	0.997000	0.53966	0.031000	0.12232	2.975000	0.49281	2.793000	0.96121	0.655000	0.94253	TCT		0.393	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1		NM_024806		21	63	1	0	4.26978e-12	0.01892	4.71455e-12	21	63		
ARID2	196528	broad.mit.edu	37	12	46245523	46245523	+	Missense_Mutation	SNP	C	C	T	rs371554995		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr12:46245523C>T	ENST00000334344.6	+	15	3789	c.3617C>T	c.(3616-3618)aCg>aTg	p.T1206M	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.T816M|ARID2_ENST00000422737.1_Missense_Mutation_p.T1057M|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1206					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATGAGCGGAACGCAGACAGGA	0.488			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(3616-3618)ACG>ATG		AT rich interactive domain 2 (ARID, RFX-like)		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	68.0	63.0	65.0		3617	5.3	0.4	12		65	0,8600		0,0,4300	no	missense	ARID2	NM_152641.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1206/1836	46245523	1,13005	2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245523C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3617C>T	12.37:g.46245523C>T	ENSP00000335044:p.Thr1206Met					ARID2_uc001ror.2_Missense_Mutation_p.T1206M|ARID2_uc009zkg.1_Missense_Mutation_p.T662M|ARID2_uc009zkh.1_Missense_Mutation_p.T833M|ARID2_uc001rou.1_Missense_Mutation_p.T540M	p.T1206M	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3617	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1206					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3617C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	1.119	-0.655939	0.03480	2.27E-4	0.0	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.35421	1.31	6.17	5.28	0.74379	.	0.518055	0.23083	N	0.052125	T	0.30541	0.0768	N	0.14661	0.345	0.33944	D	0.643591	P;P;P	0.46064	0.872;0.872;0.798	P;B;B	0.44772	0.46;0.36;0.181	T	0.46005	-0.9222	10	0.52906	T	0.07	-2.2533	17.6818	0.88246	0.0:0.8772:0.1228:0.0	.	1206;816;1206	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	M	1206;323;323;1057;816	ENSP00000335044:T1206M	ENSP00000335044:T1206M	T	+	2	0	ARID2	44531790	0.988000	0.35896	0.371000	0.25978	0.004000	0.04260	5.309000	0.65774	1.615000	0.50252	0.655000	0.94253	ACG		0.488	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		13	15	0	0	0	0.016723	0	13	15		
HOXC13	3229	broad.mit.edu	37	12	54339012	54339012	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr12:54339012C>T	ENST00000243056.3	+	2	1121	c.965C>T	c.(964-966)tCg>tTg	p.S322L		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	322					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|large_intestine(1)|skin(1)	3						GTCAGCAAATCGAAAGCGCCT	0.577			T	NUP98	AML																																	uc001sei.2		NaN		Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)	1						c.(964-966)TCG>TTG		homeobox C13							69.0	71.0	70.0					12																	54339012		2203	4300	6503	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54339012C>T		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.965C>T	12.37:g.54339012C>T	ENSP00000243056:p.Ser322Leu					HOXC13_uc010sop.1_RNA	p.S322L	NM_017410	NP_059106	P31276	HXC13_HUMAN			2	1080	+			322					Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.965C>T	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	C	7.258	0.604675	0.14002	.	.	ENSG00000123364	ENST00000243056	D	0.92595	-3.07	5.1	5.1	0.69264	Homeobox (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	T	0.78553	0.4301	N	0.05259	-0.085	0.40185	D	0.977334	B	0.30211	0.273	B	0.20184	0.028	T	0.77370	-0.2613	10	0.02654	T	1	.	13.5328	0.61631	0.0:0.8432:0.1568:0.0	.	322	P31276	HXC13_HUMAN	L	322	ENSP00000243056:S322L	ENSP00000243056:S322L	S	+	2	0	HOXC13	52625279	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	2.468000	0.45102	2.825000	0.97269	0.655000	0.94253	TCG		0.577	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2				13	189	0	0	0	0.016723	0	13	189		
UBE3B	89910	broad.mit.edu	37	12	109927742	109927742	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr12:109927742C>T	ENST00000342494.3	+	8	1158	c.563C>T	c.(562-564)gCg>gTg	p.A188V	UBE3B_ENST00000280774.5_Missense_Mutation_p.A188V|UBE3B_ENST00000540230.1_Missense_Mutation_p.A188V|UBE3B_ENST00000434735.2_Missense_Mutation_p.A188V|UBE3B_ENST00000536398.1_Missense_Mutation_p.A188V|UBE3B_ENST00000537063.1_Missense_Mutation_p.A188V|UBE3B_ENST00000340074.5_Missense_Mutation_p.A188V	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	188					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTTCGACCAGCGATGAACCAC	0.443																																						uc001top.2		NaN																	0				ovary(2)|lung(2)	4						c.(562-564)GCG>GTG		ubiquitin protein ligase E3B							205.0	184.0	191.0					12																	109927742		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109927742C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.563C>T	12.37:g.109927742C>T	ENSP00000340596:p.Ala188Val					UBE3B_uc001toq.2_Missense_Mutation_p.A188V|UBE3B_uc001tol.1_Missense_Mutation_p.A188V|UBE3B_uc001tom.2_Missense_Mutation_p.A188V|UBE3B_uc001ton.2_Missense_Mutation_p.A188V|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.A188V|UBE3B_uc001tor.2_Missense_Mutation_p.A188V	p.A188V	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			8	1166	+			188					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.563C>T	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610020	0.66558	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000536398;ENST00000539599;ENST00000342494;ENST00000340074;ENST00000540230;ENST00000537063	T;T;T;T;T;T;T;T	0.64991	1.9;1.9;-0.13;1.9;1.9;-0.13;-0.13;1.9	5.15	5.15	0.70609	.	0.045834	0.85682	D	0.000000	T	0.51126	0.1656	L	0.34521	1.04	0.80722	D	1	B;P;P	0.39352	0.162;0.669;0.669	B;B;B	0.31946	0.013;0.084;0.138	T	0.59736	-0.7398	10	0.72032	D	0.01	-18.6338	17.7797	0.88520	0.0:1.0:0.0:0.0	.	188;188;188	Q7Z3V4;Q7Z3V4-3;F5H6D6	UBE3B_HUMAN;.;.	V	188	ENSP00000391529:A188V;ENSP00000280774:A188V;ENSP00000440585:A188V;ENSP00000443131:A188V;ENSP00000340596:A188V;ENSP00000342614:A188V;ENSP00000443565:A188V;ENSP00000437694:A188V	ENSP00000280774:A188V	A	+	2	0	UBE3B	108412125	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.953000	0.75995	2.676000	0.91093	0.655000	0.94253	GCG		0.443	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		15	188	0	0	0	0.00499	0	15	188		
KDM2B	84678	broad.mit.edu	37	12	121882333	121882333	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr12:121882333C>A	ENST00000377071.4	-	15	2182	c.2110G>T	c.(2110-2112)Gag>Tag	p.E704*	KDM2B_ENST00000542973.1_Nonsense_Mutation_p.E72*|KDM2B_ENST00000377069.4_Nonsense_Mutation_p.E673*|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	704					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCTCTGACTCCTTAATCTGC	0.602																																						uc001uat.2		NaN																	0				ovary(1)|skin(1)	2						c.(2110-2112)GAG>TAG		F-box and leucine-rich repeat protein 10 isoform							69.0	74.0	73.0					12																	121882333		2148	4248	6396	SO:0001587	stop_gained	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121882333C>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2110G>T	12.37:g.121882333C>A	ENSP00000366271:p.Glu704*					KDM2B_uc001uaq.2_Nonsense_Mutation_p.E144*|KDM2B_uc010szy.1_Nonsense_Mutation_p.E144*|KDM2B_uc001uar.2_Nonsense_Mutation_p.E295*|KDM2B_uc001uas.2_Nonsense_Mutation_p.E673*|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_5'Flank|KDM2B_uc010szx.1_5'Flank|KDM2B_uc001uap.2_5'Flank	p.E704*	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			15	2214	-			704			PHD-type.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Nonsense_Mutation	SNP	ENST00000377071.4	37	c.2110G>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	41	8.670859	0.98908	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	.	.	.	5.81	5.81	0.92471	.	0.000000	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-34.6025	20.0726	0.97729	0.0:1.0:0.0:0.0	.	.	.	.	X	704;72;673;704;144;704	.	ENSP00000261824:E704X	E	-	1	0	KDM2B	120366716	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.907000	0.69908	2.738000	0.93877	0.655000	0.94253	GAG		0.602	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2		NM_032590		14	101	1	0	0.00400662	0.028581	0.00420497	14	101		
OTUD7A	161725	broad.mit.edu	37	15	31818621	31818621	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr15:31818621G>A	ENST00000307050.4	-	6	895	c.803C>T	c.(802-804)aCg>aTg	p.T268M	OTUD7A_ENST00000382902.1_Missense_Mutation_p.T275M	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	268	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CAGCAGCTCCGTCCACTCCCG	0.682																																						uc001zfq.2		NaN																	0				pancreas(1)|skin(1)	2						c.(802-804)ACG>ATG		OTU domain containing 7A							32.0	28.0	29.0					15																	31818621		2202	4298	6500	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31818621G>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.803C>T	15.37:g.31818621G>A	ENSP00000305926:p.Thr268Met					OTUD7A_uc001zfr.2_Missense_Mutation_p.T275M	p.T268M	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	6	896	-		all_lung(180;1.6e-09)	268			OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.803C>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068978	0.76301	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.31247	1.51;1.5	5.08	4.07	0.47477	Ovarian tumour, otubain (2);	0.096119	0.64402	D	0.000002	T	0.32823	0.0842	N	0.14661	0.345	0.34562	D	0.712509	D;D	0.76494	0.999;0.999	P;P	0.60886	0.809;0.88	T	0.49224	-0.8962	10	0.72032	D	0.01	-25.0924	12.334	0.55056	0.0:0.0:0.7002:0.2998	.	275;268	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	M	268;275	ENSP00000305926:T268M;ENSP00000372358:T275M	ENSP00000305926:T268M	T	-	2	0	OTUD7A	29605913	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	3.144000	0.50616	2.323000	0.78572	0.561000	0.74099	ACG		0.682	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2		NM_130901		7	35	0	0	0	0.004482	0	7	35		
ARHGAP11A	9824	broad.mit.edu	37	15	32929352	32929352	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr15:32929352A>T	ENST00000361627.3	+	12	3100	c.2378A>T	c.(2377-2379)aAa>aTa	p.K793I	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K604I|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K604I	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	793					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACATGTGAGAAAACAGTTTCT	0.348																																					Colon(45;757 1134 30003 36652)	uc001zgy.1		NaN																	0				skin(3)|breast(2)|urinary_tract(1)	6						c.(2377-2379)AAA>ATA		Rho GTPase activating protein 11A isoform 1							93.0	93.0	93.0					15																	32929352		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929352A>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2378A>T	15.37:g.32929352A>T	ENSP00000355090:p.Lys793Ile					ARHGAP11A_uc010ubw.1_Missense_Mutation_p.K604I|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.K604I	p.K793I	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	3100	+		all_lung(180;1.3e-11)	793					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2378A>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	8.235	0.805498	0.16467	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.11821	2.74	5.23	-2.17	0.07059	.	0.597447	0.16625	N	0.206331	T	0.08358	0.0208	L	0.46157	1.445	0.09310	N	1	P	0.41265	0.744	B	0.31191	0.125	T	0.14309	-1.0477	10	0.72032	D	0.01	.	6.1262	0.20180	0.4031:0.4169:0.1799:0.0	.	793	Q6P4F7	RHGBA_HUMAN	I	793;604	ENSP00000355090:K793I	ENSP00000355090:K793I	K	+	2	0	ARHGAP11A	30716644	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	1.094000	0.30951	-0.561000	0.06094	0.533000	0.62120	AAA		0.348	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1		NM_014783		14	49	0	0	0	0.024245	0	14	49		
WDR72	256764	broad.mit.edu	37	15	53994342	53994342	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr15:53994342C>T	ENST00000396328.1	-	12	1797	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	WDR72_ENST00000559418.1_Missense_Mutation_p.E530K|WDR72_ENST00000557913.1_Missense_Mutation_p.E517K|WDR72_ENST00000360509.5_Missense_Mutation_p.E520K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	520										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTAAACTTCTCTGGTGACATC	0.294																																						uc002acj.2		NaN																	0				lung(1)|skin(1)	2						c.(1558-1560)GAG>AAG		WD repeat domain 72							66.0	75.0	72.0					15																	53994342		2193	4293	6486	SO:0001583	missense	256764							g.chr15:53994342C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1558G>A	15.37:g.53994342C>T	ENSP00000379619:p.Glu520Lys					WDR72_uc010bfi.1_Missense_Mutation_p.E520K	p.E520K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	12	1600	-			520			WD 7.		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1558G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078427	0.94000	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.38077	1.16;1.16	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.065920	0.64402	D	0.000007	T	0.53769	0.1817	M	0.70275	2.135	0.53688	D	0.999972	D	0.58268	0.982	P	0.53760	0.734	T	0.53099	-0.8486	10	0.49607	T	0.09	.	18.9071	0.92467	0.0:1.0:0.0:0.0	.	520	Q3MJ13	WDR72_HUMAN	K	520	ENSP00000379619:E520K;ENSP00000353699:E520K	ENSP00000353699:E520K	E	-	1	0	WDR72	51781634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.145000	0.64839	2.707000	0.92482	0.655000	0.94253	GAG		0.294	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2		NM_182758		10	64	0	0	0	0.010729	0	10	64		
LDHAL6B	92483	broad.mit.edu	37	15	59499546	59499546	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr15:59499546C>G	ENST00000307144.4	+	1	505	c.407C>G	c.(406-408)gCa>gGa	p.A136G	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	136					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						TTTGTCACAGCAAACTCCAAC	0.433																																						uc002agb.2		NaN																	0					0						c.(406-408)GCA>GGA		lactate dehydrogenase A-like 6B	NADH(DB00157)						107.0	104.0	105.0					15																	59499546		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499546C>G	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.407C>G	15.37:g.59499546C>G	ENSP00000302393:p.Ala136Gly					MYO1E_uc002aga.2_Intron	p.A136G	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN			1	505	+			136					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.407C>G	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.043105	0.55003	.	.	ENSG00000171989	ENST00000307144	D	0.88818	-2.43	1.47	1.47	0.22746	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000005	D	0.91043	0.7182	M	0.83774	2.66	0.53005	D	0.999964	P	0.44429	0.835	P	0.51297	0.665	D	0.90191	0.4250	10	0.87932	D	0	.	8.4578	0.32910	0.0:1.0:0.0:0.0	.	136	Q9BYZ2	LDH6B_HUMAN	G	136	ENSP00000302393:A136G	ENSP00000302393:A136G	A	+	2	0	LDHAL6B	57286838	1.000000	0.71417	0.117000	0.21633	0.065000	0.16274	4.939000	0.63526	0.784000	0.33661	0.305000	0.20034	GCA		0.433	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1		NM_033195		26	80	0	0	0	0.027356	0	26	80		
CYP11A1	1583	broad.mit.edu	37	15	74637457	74637457	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr15:74637457G>A	ENST00000268053.6	-	3	707	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000358632.4_Missense_Mutation_p.R27C|CYP11A1_ENST00000419019.2_Missense_Mutation_p.R27C	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	185					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TTCTTGATGCGCCTGTGCAGG	0.582																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2		NaN																	0				ovary(2)	2						c.(553-555)CGC>TGC		cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						88.0	84.0	85.0					15																	74637457		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74637457G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.553C>T	15.37:g.74637457G>A	ENSP00000268053:p.Arg185Cys					CYP11A1_uc002axs.2_Missense_Mutation_p.R27C|CYP11A1_uc010bjm.1_Missense_Mutation_p.R27C|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.R185C|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.2_Missense_Mutation_p.R185C	p.R185C	NM_000781	NP_000772	P05108	CP11A_HUMAN			3	708	-			185					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.553C>T	CCDS32291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.94|16.94	3.260740|3.260740	0.59431|0.59431	.|.	.|.	ENSG00000140459|ENSG00000140459	ENST00000433240|ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	.|T;T;T	.|0.69435	.|-0.4;-0.4;-0.4	4.37|4.37	3.38|3.38	0.38709|0.38709	.|.	.|0.165365	.|0.53938	.|D	.|0.000057	T|T	0.78451|0.78451	0.4285|0.4285	M|M	0.67625|0.67625	2.065|2.065	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.72338	.|0.977;0.947;0.957	T|T	0.81376|0.81376	-0.0961|-0.0961	6|10	0.08837|0.66056	T|D	0.75|0.02	-17.2513|-17.2513	13.846|13.846	0.63468|0.63468	0.0:0.1686:0.8314:0.0|0.0:0.1686:0.8314:0.0	.|.	.|185;155;185	.|E7EPP8;B4DTE5;P05108	.|.;.;CP11A_HUMAN	V|C	153|185;27;27;97	.|ENSP00000268053:R185C;ENSP00000351455:R27C;ENSP00000405488:R27C	ENSP00000387487:A153V|ENSP00000268053:R185C	A|R	-|-	2|1	0|0	CYP11A1|CYP11A1	72424510|72424510	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.548000|0.548000	0.35241|0.35241	2.761000|2.761000	0.47589|0.47589	1.977000|1.977000	0.57605|0.57605	0.549000|0.549000	0.68633|0.68633	GCG|CGC		0.582	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1				4	69	0	0	0	0.014758	0	4	69		
RBBP6	5930	broad.mit.edu	37	16	24573026	24573026	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr16:24573026T>G	ENST00000319715.4	+	9	1373	c.941T>G	c.(940-942)tTt>tGt	p.F314C	RBBP6_ENST00000348022.2_Missense_Mutation_p.F314C|RBBP6_ENST00000381039.3_Missense_Mutation_p.F314C	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	314					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCCAATAAATTTTTACGACAG	0.333																																						uc002dmh.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(940-942)TTT>TGT		retinoblastoma-binding protein 6 isoform 1							84.0	83.0	83.0					16																	24573026		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24573026T>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.941T>G	16.37:g.24573026T>G	ENSP00000317872:p.Phe314Cys					RBBP6_uc010vcb.1_Missense_Mutation_p.F181C|RBBP6_uc002dmi.2_Missense_Mutation_p.F314C|RBBP6_uc010bxr.2_Missense_Mutation_p.F314C|RBBP6_uc002dmk.2_Missense_Mutation_p.F181C	p.F314C	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	9	1981	+			314					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.941T>G	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297994	0.81025	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17854	2.25;2.44;2.48	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);U box domain (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	M	0.69358	2.11	0.80722	D	1	B;D;D	0.89917	0.153;1.0;1.0	B;D;D	0.87578	0.049;0.998;0.996	T	0.17048	-1.0382	10	0.52906	T	0.07	-15.2352	15.9335	0.79683	0.0:0.0:0.0:1.0	.	314;314;314	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	C	314	ENSP00000370427:F314C;ENSP00000317872:F314C;ENSP00000316291:F314C	ENSP00000317872:F314C	F	+	2	0	RBBP6	24480527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.132000	0.64758	2.240000	0.73641	0.477000	0.44152	TTT		0.333	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2		NM_006910		5	60	0	0	0	0.014758	0	5	60		
ZNF629	23361	broad.mit.edu	37	16	30794836	30794836	+	Silent	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr16:30794836G>A	ENST00000262525.4	-	3	1020	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTGCGGTAGAAAGCCCGGC	0.632																																						uc002dzs.1		NaN																	0					0						c.(811-813)TTC>TTT		zinc finger protein 629							65.0	72.0	70.0					16																	30794836		2191	4299	6490	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794836G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.813C>T	16.37:g.30794836G>A							p.F271F	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1021	-			271			C2H2-type 5.		Q15938	Silent	SNP	ENST00000262525.4	37	c.813C>T	CCDS45463.1																																																																																				0.632	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1		NM_015309		13	33	0	0	0	0.020292	0	13	33		
CMTM2	146225	broad.mit.edu	37	16	66621938	66621938	+	Silent	SNP	A	A	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr16:66621938A>G	ENST00000268595.2	+	4	814	c.663A>G	c.(661-663)aaA>aaG	p.K221K	CMTM2_ENST00000379486.2_Silent_p.K168K	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	221					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GAAAGGAAAAAGGACCCCAGC	0.522																																						uc002ept.2		NaN																	0				ovary(1)	1						c.(661-663)AAA>AAG		chemokine-like factor superfamily 2							77.0	83.0	81.0					16																	66621938		2201	4300	6501	SO:0001819	synonymous_variant	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66621938A>G	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.663A>G	16.37:g.66621938A>G						CMTM2_uc010cdu.2_Silent_p.K168K	p.K221K	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	4	823	+		Ovarian(137;0.0563)	221					Q5I2A4|Q8N7E5	Silent	SNP	ENST00000268595.2	37	c.663A>G	CCDS10814.1																																																																																				0.522	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1				3	73	0	0	0	0.004672	0	3	73		
AP1G1	164	broad.mit.edu	37	16	71798289	71798289	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr16:71798289C>G	ENST00000299980.4	-	9	1323	c.882G>C	c.(880-882)ttG>ttC	p.L294F	AP1G1_ENST00000569748.1_Missense_Mutation_p.L294F|AP1G1_ENST00000433195.2_Missense_Mutation_p.L317F|AP1G1_ENST00000393512.3_Missense_Mutation_p.L297F|AP1G1_ENST00000423132.2_Missense_Mutation_p.L297F	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	294					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CCATGATAGTCAAAACCGTTT	0.363																																						uc010cgg.2		NaN																	0				ovary(2)	2						c.(880-882)TTG>TTC		adaptor-related protein complex 1, gamma 1							86.0	78.0	80.0					16																	71798289		2197	4299	6496	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71798289C>G	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.882G>C	16.37:g.71798289C>G	ENSP00000299980:p.Leu294Phe					AP1G1_uc002fba.2_Missense_Mutation_p.L297F|AP1G1_uc002fbb.2_Missense_Mutation_p.L317F|AP1G1_uc010vmg.1_RNA	p.L294F	NM_001128	NP_001119	O43747	AP1G1_HUMAN			9	1196	-		Ovarian(137;0.125)	294					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.882G>C	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873043	0.72180	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.67	5.67	0.87782	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56441	0.1985	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	0.99;0.997;1.0	P;D;D	0.80764	0.902;0.945;0.994	T	0.63404	-0.6645	10	0.59425	D	0.04	-5.5988	10.2344	0.43275	0.0:0.8534:0.0:0.1466	.	294;317;297	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	F	294;297;297;317;165;379	ENSP00000299980:L294F;ENSP00000377148:L297F;ENSP00000409153:L297F;ENSP00000403259:L317F	ENSP00000299980:L294F	L	-	3	2	AP1G1	70355790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.919000	0.40015	2.666000	0.90696	0.655000	0.94253	TTG		0.363	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1				7	31	0	0	0	0.00308	0	7	31		
GEMIN4	50628	broad.mit.edu	37	17	650821	650821	+	Silent	SNP	G	G	A	rs151264305		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:650821G>A	ENST00000319004.5	-	2	580	c.462C>T	c.(460-462)gcC>gcT	p.A154A	GEMIN4_ENST00000437269.1_Silent_p.A154A|GEMIN4_ENST00000576778.1_Silent_p.A143A	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	154					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCACGTCTTCGGCAGAAGTGT	0.567																																						uc002frs.1		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(460-462)GCC>GCT		gemin 4		G		3,4111		0,3,2054	112.0	117.0	116.0		462	-3.3	0.6	17	dbSNP_134	116	0,8374		0,0,4187	no	coding-synonymous	GEMIN4	NM_015721.2		0,3,6241	AA,AG,GG		0.0,0.0729,0.024		154/1059	650821	3,12485	2057	4187	6244	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650821G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.462C>T	17.37:g.650821G>A						GEMIN4_uc010vqa.1_Silent_p.A154A	p.A154A	NM_015721	NP_056536	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	581	-		Myeloproliferative disorder(207;0.204)	154					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.462C>T	CCDS45559.1																																																																																				0.567	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1		NM_015721		7	75	0	0	0	0.00308	0	7	75		
DLG4	1742	broad.mit.edu	37	17	7094110	7094110	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:7094110C>T	ENST00000399506.2	-	20	2283	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	DLG4_ENST00000399510.2_Missense_Mutation_p.E741K|DLG4_ENST00000302955.6_Missense_Mutation_p.E695K			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	698	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TAGATCTCCTCAAAGCTGTCA	0.617																																						uc002get.3		NaN																	0				ovary(1)|breast(1)	2						c.(2221-2223)GAG>AAG		post-synaptic density protein 95 isoform 1							86.0	86.0	86.0					17																	7094110		2050	4198	6248	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7094110C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.2092G>A	17.37:g.7094110C>T	ENSP00000382425:p.Glu698Lys					DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.E638K|DLG4_uc010cly.2_Missense_Mutation_p.E695K|DLG4_uc010vto.1_Missense_Mutation_p.E738K	p.E741K	NM_001365	NP_001356	P78352	DLG4_HUMAN			22	3422	-			698			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.2221G>A		.	.	.	.	.	.	.	.	.	.	C	28.0	4.882481	0.91740	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912	T;T;T	0.54071	0.59;0.59;0.59	4.33	4.33	0.51752	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.76241	0.3960	M	0.89534	3.04	0.58432	D	0.999995	D;B;P;P	0.61080	0.989;0.002;0.817;0.931	D;B;P;D	0.72075	0.976;0.006;0.676;0.976	T	0.82210	-0.0570	9	0.87932	D	0	.	14.3894	0.66968	0.0:1.0:0.0:0.0	.	738;698;695;741	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	K	698;695;741;741;638	ENSP00000382425:E698K;ENSP00000307471:E695K;ENSP00000382428:E741K	ENSP00000293813:E741K	E	-	1	0	DLG4	7034834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.307000	0.78920	2.244000	0.73946	0.462000	0.41574	GAG		0.617	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2		NM_001365		23	58	0	0	0	0.01892	0	23	58		
MYH10	4628	broad.mit.edu	37	17	8393774	8393774	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:8393774C>G	ENST00000269243.4	-	33	4813	c.4675G>C	c.(4675-4677)Gaa>Caa	p.E1559Q	MYH10_ENST00000360416.3_Missense_Mutation_p.E1590Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1580Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1575Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1559					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						TTGGCATCTTCCGTGGCCTGG	0.542																																						uc002gll.2		NaN																	0				ovary(2)	2						c.(4675-4677)GAA>CAA		myosin, heavy polypeptide 10, non-muscle							155.0	137.0	143.0					17																	8393774		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.chr17:8393774C>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.4675G>C	17.37:g.8393774C>G	ENSP00000269243:p.Glu1559Gln					MYH10_uc002glm.2_Missense_Mutation_p.E1590Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1568Q	p.E1559Q	NM_005964	NP_005955	P35580	MYH10_HUMAN			33	4771	-			1559			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4675G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893301	0.91889	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	4.56	4.56	0.56223	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.94387	0.8195	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.989;1.0	D	0.95769	0.8807	10	0.87932	D	0	.	17.8677	0.88800	0.0:1.0:0.0:0.0	.	1568;1590;1559	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1559;1590;1580;1575	ENSP00000269243:E1559Q;ENSP00000353590:E1590Q;ENSP00000379539:E1580Q;ENSP00000369315:E1575Q	ENSP00000269243:E1559Q	E	-	1	0	MYH10	8334499	1.000000	0.71417	0.515000	0.27774	0.854000	0.48673	7.603000	0.82811	2.519000	0.84933	0.655000	0.94253	GAA		0.542	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2				3	96	0	0	0	0.009096	0	3	96		
MYH10	4628	broad.mit.edu	37	17	8449973	8449973	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:8449973C>T	ENST00000269243.4	-	11	1275	c.1137G>A	c.(1135-1137)caG>caA	p.Q379Q	MYH10_ENST00000360416.3_Silent_p.Q389Q|MYH10_ENST00000396239.1_Silent_p.Q379Q|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000379980.4_Silent_p.Q395Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	379	Myosin motor.				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						GGCAGAGCTTCTGCGCAACTG	0.418																																						uc002gll.2		NaN																	0				ovary(2)	2						c.(1135-1137)CAG>CAA		myosin, heavy polypeptide 10, non-muscle							80.0	75.0	77.0					17																	8449973		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:8449973C>T	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.1137G>A	17.37:g.8449973C>T						MYH10_uc002glm.2_Silent_p.Q389Q|MYH10_uc010cnx.2_Silent_p.Q388Q	p.Q379Q	NM_005964	NP_005955	P35580	MYH10_HUMAN			11	1233	-			379			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.1137G>A	CCDS11144.1																																																																																				0.418	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2				9	28	0	0	0	0.010729	0	9	28		
MPRIP	23164	broad.mit.edu	37	17	17083384	17083384	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:17083384C>T	ENST00000341712.4	+	22	3027	c.3027C>T	c.(3025-3027)ctC>ctT	p.L1009L	RN7SL775P_ENST00000498361.2_RNA|MPRIP_ENST00000395811.5_Silent_p.L1009L|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Silent_p.L971L|MPRIP_ENST00000395804.3_Silent_p.L1009L			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	1009						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCCGGCAACTCAGAAACATCA	0.488																																						uc002gqu.1		NaN																	0					0						c.(3025-3027)CTC>CTT		myosin phosphatase-Rho interacting protein							64.0	66.0	65.0					17																	17083384		2203	4300	6503	SO:0001819	synonymous_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17083384C>T	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.3027C>T	17.37:g.17083384C>T						MPRIP_uc002gqv.1_Silent_p.L1009L|MPRIP_uc002gqw.1_Silent_p.L764L|MPRIP_uc002gqx.1_Silent_p.L1238L|MPRIP_uc002gqy.1_Silent_p.L1238L|MPRIP_uc010cpl.1_Silent_p.L195L|MPRIP_uc010cpm.1_Silent_p.L195L	p.L1009L	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			22	3083	+			1009					Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	c.3027C>T	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.862|7.862	0.726224|0.726224	0.15439|0.15439	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000313485|ENST00000414263	.|.	.|.	.|.	5.22|5.22	3.11|3.11	0.35812|0.35812	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45316	.|0.1336	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.37430	.|-0.9706	.|4	.|.	.|.	.|.	-9.7028|-9.7028	2.869|2.869	0.05610|0.05610	0.2946:0.487:0.1196:0.0988|0.2946:0.487:0.1196:0.0988	.|.	.|.	.|.	.|.	X|L	1374|1075	.|.	.|.	Q|S	+|+	1|2	0|0	MPRIP|MPRIP	17024109|17024109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.192000|1.192000	0.32150|0.32150	1.208000|1.208000	0.43306|0.43306	-0.253000|-0.253000	0.11424|0.11424	CAG|TCA		0.488	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1		NM_015134		5	25	0	0	0	0.021553	0	5	25		
MPRIP	23164	broad.mit.edu	37	17	17083388	17083388	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:17083388A>C	ENST00000341712.4	+	22	3031	c.3031A>C	c.(3031-3033)Aac>Cac	p.N1011H	RN7SL775P_ENST00000498361.2_RNA|MPRIP_ENST00000395811.5_Missense_Mutation_p.N1011H|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.N973H|MPRIP_ENST00000395804.3_Missense_Mutation_p.N1011H			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	1011						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCAACTCAGAAACATCAGGTC	0.493																																						uc002gqu.1		NaN																	0					0						c.(3031-3033)AAC>CAC		myosin phosphatase-Rho interacting protein							61.0	63.0	62.0					17																	17083388		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17083388A>C	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.3031A>C	17.37:g.17083388A>C	ENSP00000342379:p.Asn1011His					MPRIP_uc002gqv.1_Missense_Mutation_p.N1011H|MPRIP_uc002gqw.1_Missense_Mutation_p.N766H|MPRIP_uc002gqx.1_Missense_Mutation_p.N1240H|MPRIP_uc002gqy.1_Missense_Mutation_p.N1240H|MPRIP_uc010cpl.1_Missense_Mutation_p.N197H|MPRIP_uc010cpm.1_Missense_Mutation_p.N197H	p.N1011H	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			22	3087	+			1011					Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.3031A>C	CCDS32578.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.66|18.66|18.66	3.672442|3.672442|3.672442	0.67928|0.67928|0.67928	.|.|.	.|.|.	ENSG00000133030|ENSG00000133030|ENSG00000133030	ENST00000414263|ENST00000313485|ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712;ENST00000429184	.|.|T;T;T;T	.|.|0.24151	.|.|1.87;2.19;2.16;2.16	5.22|5.22|5.22	4.14|4.14|4.14	0.48551|0.48551|0.48551	.|.|.	.|.|0.430423	.|.|0.26435	.|.|N	.|.|0.024390	T|T|T	0.35508|0.35508|0.35508	0.0934|0.0934|0.0934	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.27452|0.27452|0.27452	N|N|N	0.953408|0.953408|0.953408	.|.|P;D;D;D;P	.|.|0.63880	.|.|0.845;0.983;0.993;0.963;0.681	.|.|B;P;P;P;B	.|.|0.61592	.|.|0.34;0.718;0.891;0.718;0.34	T|T|T	0.12553|0.12553|0.12553	-1.0543|-1.0543|-1.0543	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-5.6914|-5.6914|-5.6914	10.9125|10.9125|10.9125	0.47116|0.47116|0.47116	0.9257:0.0:0.0743:0.0|0.9257:0.0:0.0743:0.0|0.9257:0.0:0.0743:0.0	.|.|.	.|.|1010;973;1375;1011;1011	.|.|B9EGI2;Q6WCQ1-3;Q9Y6X7;Q6WCQ1-2;Q6WCQ1	.|.|.;.;.;.;MPRIP_HUMAN	D|T|H	1076|1375|973;1011;1011;1011;167	.|.|ENSP00000400189:N973H;ENSP00000379156:N1011H;ENSP00000379149:N1011H;ENSP00000342379:N1011H	.|.|ENSP00000342379:N1011H	E|K|N	+|+|+	3|2|1	2|0|0	MPRIP|MPRIP|MPRIP	17024113|17024113|17024113	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	3.977000|3.977000|3.977000	0.56874|0.56874|0.56874	0.827000|0.827000|0.827000	0.34685|0.34685|0.34685	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	GAA|AAA|AAC		0.493	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1		NM_015134		5	25	0	0	0	0.021553	0	5	25		
ZNF207	7756	broad.mit.edu	37	17	30696342	30696342	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:30696342A>G	ENST00000321233.6	+	10	1299	c.1145A>G	c.(1144-1146)tAt>tGt	p.Y382C	ZNF207_ENST00000577908.1_Missense_Mutation_p.Y398C|ZNF207_ENST00000394670.4_Missense_Mutation_p.Y398C|ZNF207_ENST00000394673.2_Missense_Mutation_p.Y367C|ZNF207_ENST00000341711.6_Missense_Mutation_p.Y299C|ZNF207_ENST00000342555.6_Missense_Mutation_p.Y401C	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	382	GLEBS.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTACCTAAGTATCAACGTAAT	0.502																																						uc002hhh.3		NaN																	0					0						c.(1144-1146)TAT>TGT		zinc finger protein 207 isoform a							94.0	93.0	93.0					17																	30696342		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30696342A>G	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1145A>G	17.37:g.30696342A>G	ENSP00000322777:p.Tyr382Cys					ZNF207_uc002hhj.3_Missense_Mutation_p.Y398C|ZNF207_uc002hhi.3_Missense_Mutation_p.Y367C|ZNF207_uc010csz.2_Missense_Mutation_p.Y401C|ZNF207_uc002hhk.1_Missense_Mutation_p.Y398C|ZNF207_uc002hhl.1_RNA	p.Y382C	NM_003457	NP_003448	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1293	+		Breast(31;0.116)|Ovarian(249;0.182)	382					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.1145A>G	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389198	0.61956	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;D	0.82526	-0.52;-1.62	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.90065	0.6897	M	0.67700	2.07	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.996;0.996;0.996;0.996;0.997	D	0.91042	0.4872	10	0.72032	D	0.01	.	15.7019	0.77549	1.0:0.0:0.0:0.0	.	351;401;398;367;382	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	C	398;351;401;367;299;382	ENSP00000378165:Y398C;ENSP00000344913:Y299C	ENSP00000322777:Y367C	Y	+	2	0	ZNF207	27720455	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.157000	0.94714	2.108000	0.64289	0.477000	0.44152	TAT		0.502	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2				24	32	0	0	0	0.007291	0	24	32		
CDK5R1	8851	broad.mit.edu	37	17	30815244	30815244	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:30815244C>T	ENST00000313401.3	+	2	1295	c.606C>T	c.(604-606)gtC>gtT	p.V202V		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	202					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CCAACGTGGTCTTCCTCTACA	0.642																																						uc002hhn.2		NaN																	0				ovary(1)	1						c.(604-606)GTC>GTT		cyclin-dependent kinase 5, regulatory subunit 1							90.0	91.0	91.0					17																	30815244		2203	4300	6503	SO:0001819	synonymous_variant	8851				axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding	g.chr17:30815244C>T	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.606C>T	17.37:g.30815244C>T						CDK5R1_uc010wca.1_Silent_p.V202V|CDK5R1_uc010ctc.2_Intron	p.V202V	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0938)		2	827	+		Breast(31;0.159)|Ovarian(249;0.182)	202					E1P664|Q5U0G3	Silent	SNP	ENST00000313401.3	37	c.606C>T	CCDS11273.1																																																																																				0.642	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1		NM_003885		14	91	0	0	0	0.020292	0	14	91		
TBX4	9496	broad.mit.edu	37	17	59534930	59534930	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:59534930G>C	ENST00000240335.1	+	2	264	c.219G>C	c.(217-219)gaG>gaC	p.E73D	RP11-15K2.2_ENST00000592766.1_RNA|TBX4_ENST00000393853.4_Missense_Mutation_p.E73D	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	73					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGCTGCATGAGAAGGAGCTCT	0.597																																						uc002izi.2		NaN																	0				skin(2)	2						c.(217-219)GAG>GAC		T-box 4							102.0	91.0	95.0					17																	59534930		2203	4300	6503	SO:0001583	missense	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59534930G>C	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.219G>C	17.37:g.59534930G>C	ENSP00000240335:p.Glu73Asp					TBX4_uc010ddo.2_Missense_Mutation_p.E73D|TBX4_uc010woy.1_Missense_Mutation_p.E73D	p.E73D	NM_018488	NP_060958	P57082	TBX4_HUMAN			2	264	+			73			T-box.		A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	c.219G>C	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.760958	0.69763	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.88896	-2.44;-2.44	5.63	5.63	0.86233	p53-like transcription factor, DNA-binding (1);	0.052056	0.85682	D	0.000000	T	0.77485	0.4137	N	0.04245	-0.25	0.54753	D	0.999986	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.002	T	0.72114	-0.4388	9	.	.	.	.	18.2616	0.90038	0.0:0.0:1.0:0.0	.	73;73	A5PKU7;P57082	.;TBX4_HUMAN	D	73	ENSP00000377435:E73D;ENSP00000240335:E73D	.	E	+	3	2	TBX4	56889712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.133000	0.64764	2.654000	0.90174	0.561000	0.74099	GAG		0.597	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1		NM_018488		6	56	0	0	0	0.004482	0	6	56		
POLRMT	5442	broad.mit.edu	37	19	630113	630113	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr19:630113C>T	ENST00000588649.2	-	3	333	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	83					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCCTGTTCACCACCACCT	0.672																																						uc002lpf.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(247-249)GTG>GTA		mitochondrial DNA-directed RNA polymerase							54.0	59.0	57.0					19																	630113		2203	4300	6503	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:630113C>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.249G>A	19.37:g.630113C>T							p.V83V	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	305	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	83					O60370	Silent	SNP	ENST00000588649.2	37	c.249G>A	CCDS12036.1																																																																																				0.672	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3		NM_005035		18	86	0	0	0	0.007413	0	18	86		
ATP8B3	148229	broad.mit.edu	37	19	1789016	1789016	+	Silent	SNP	C	C	G	rs377354610		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr19:1789016C>G	ENST00000310127.6	-	24	3187	c.2949G>C	c.(2947-2949)ctG>ctC	p.L983L	ATP8B3_ENST00000539485.1_Silent_p.L993L|ATP8B3_ENST00000525591.1_Silent_p.L946L	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	983					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GGCCGTGCACCAGCAGGAGGC	0.632																																						uc002ltw.2		NaN																	0					0						c.(2947-2949)CTG>CTC		ATPase, class I, type 8B, member 3							32.0	38.0	36.0					19																	1789016		2198	4288	6486	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1789016C>G	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2949G>C	19.37:g.1789016C>G						ATP8B3_uc002ltv.2_Silent_p.L946L|ATP8B3_uc002ltx.2_RNA	p.L983L	NM_138813	NP_620168	O60423	AT8B3_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)	24	3183	-		Hepatocellular(1079;0.137)	983			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.2949G>C	CCDS45901.1																																																																																				0.632	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1		NM_138813		5	11	0	0	0	0.021553	0	5	11		
MUC16	94025	broad.mit.edu	37	19	9018160	9018160	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr19:9018160T>C	ENST00000397910.4	-	25	37981	c.37778A>G	c.(37777-37779)tAc>tGc	p.Y12593C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12595	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						GCAGCCAGAGTACAGAAGGCC	0.537																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37777-37779)TAC>TGC		mucin 16							163.0	138.0	146.0					19																	9018160		2006	4171	6177	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9018160T>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.37778A>G	19.37:g.9018160T>C	ENSP00000381008:p.Tyr12593Cys						p.Y12593C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			25	37982	-			12595			SEA 4.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37778A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.305	-0.603842	0.03717	.	.	ENSG00000181143	ENST00000397910	T	0.55052	0.54	1.86	0.725	0.18242	.	.	.	.	.	T	0.69486	0.3116	M	0.89095	3.005	.	.	.	D	0.89917	1.0	D	0.69824	0.966	T	0.69401	-0.5155	8	0.87932	D	0	.	3.8213	0.08836	0.3306:0.0:0.0:0.6694	.	12593	B5ME49	.	C	12593	ENSP00000381008:Y12593C	ENSP00000381008:Y12593C	Y	-	2	0	MUC16	8879160	0.003000	0.15002	0.002000	0.10522	0.007000	0.05969	0.062000	0.14389	0.130000	0.18549	0.164000	0.16699	TAC		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		29	99	0	0	0	0.013726	0	29	99		
NDUFA13	51079	broad.mit.edu	37	19	19626255	19626255	+	5'Flank	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr19:19626255C>T	ENST00000507754.4	+	0	0				YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_De_novo_Start_OutOfFrame|NDUFA13_ENST00000252576.5_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000585580.3_De_novo_Start_OutOfFrame|NDUFA13_ENST00000503283.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CTAGGGCGCACGGGGGGCAGG	0.652																																						uc002nmr.2		NaN																	0				stomach(1)	1						c.(-20--16)CCGTG>CCATG		testis-specific serine kinase 6							23.0	28.0	26.0					19																	19626255		2169	4220	6389	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19626255C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19626255C>T	Exception_encountered					TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank		NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN			1	215	-								B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Translation_Start_Site	SNP	ENST00000507754.4	37	c.-18G>A	CCDS12404.2																																																																																				0.652	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6		NM_015965		9	21	0	0	0	0.008291	0	9	21		
ZNF677	342926	broad.mit.edu	37	19	53740952	53740952	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr19:53740952C>G	ENST00000598513.1	-	5	1178	c.1028G>C	c.(1027-1029)gGa>gCa	p.G343A	ZNF677_ENST00000333952.4_Missense_Mutation_p.G343A|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGGTTTCTCTCCAGTATGCAT	0.388																																						uc002qbf.1		NaN																	0				ovary(1)	1						c.(1027-1029)GGA>GCA		zinc finger protein 677							87.0	81.0	83.0					19																	53740952		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740952C>G	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1028G>C	19.37:g.53740952C>G	ENSP00000469391:p.Gly343Ala					ZNF677_uc002qbg.1_Missense_Mutation_p.G343A	p.G343A	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1213	-			343						Missense_Mutation	SNP	ENST00000598513.1	37	c.1028G>C	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443955	0.43429	.	.	ENSG00000197928	ENST00000333952	T	0.26373	1.74	2.21	2.21	0.28008	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33075	N	0.005319	T	0.37839	0.1018	L	0.41492	1.28	0.36439	D	0.865351	D	0.89917	1.0	D	0.87578	0.998	T	0.47799	-0.9089	10	0.87932	D	0	.	10.5214	0.44920	0.0:1.0:0.0:0.0	.	343	Q86XU0	ZN677_HUMAN	A	343	ENSP00000334394:G343A	ENSP00000334394:G343A	G	-	2	0	ZNF677	58432764	0.003000	0.15002	0.815000	0.32552	0.353000	0.29299	1.602000	0.36783	1.559000	0.49555	0.655000	0.94253	GGA		0.388	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1		NM_182609		6	41	0	0	0	0.001984	0	6	41		
ZNF749	388567	broad.mit.edu	37	19	57955885	57955885	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	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	71	0	0	0	0.009096	0	3	71		
SMEK2	57223	broad.mit.edu	37	2	55791550	55791550	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr2:55791550T>A	ENST00000345102.5	-	15	2460	c.2159A>T	c.(2158-2160)gAt>gTt	p.D720V	SMEK2_ENST00000272313.5_Missense_Mutation_p.D635V|SMEK2_ENST00000407823.3_Missense_Mutation_p.D688V|SNORA12_ENST00000390873.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	720	Poly-Glu.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTCTTCTTCATCTTCATTAAA	0.358																																						uc002rzc.2		NaN																	0				skin(1)	1						c.(2158-2160)GAT>GTT		SMEK homolog 2, suppressor of mek1 isoform 1							167.0	151.0	156.0					2																	55791550		2202	4300	6502	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55791550T>A	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.2159A>T	2.37:g.55791550T>A	ENSP00000339769:p.Asp720Val					SMEK2_uc002rzb.2_Missense_Mutation_p.D635V|SMEK2_uc002rzd.2_Missense_Mutation_p.D688V|SMEK2_uc002ryz.2_Missense_Mutation_p.D147V|SMEK2_uc002rza.2_Missense_Mutation_p.D504V	p.D720V	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		15	2534	-			720			Poly-Glu.		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.2159A>T	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850711	0.71719	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.49139	0.79;0.79;0.79	5.98	4.83	0.62350	.	0.194491	0.52532	D	0.000074	T	0.69151	0.3079	M	0.84683	2.71	0.80722	D	1	P;D;P;P;P	0.67145	0.734;0.996;0.954;0.729;0.721	P;D;P;B;P	0.68039	0.642;0.955;0.804;0.317;0.559	T	0.73633	-0.3921	10	0.72032	D	0.01	-13.7056	12.0129	0.53297	0.0:0.0673:0.0:0.9327	.	688;720;635;720;147	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9;Q5MIZ7-5	.;P4R3B_HUMAN;.;.;.	V	635;688;720	ENSP00000272313:D635V;ENSP00000385912:D688V;ENSP00000339769:D720V	ENSP00000272313:D635V	D	-	2	0	SMEK2	55645054	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.997000	0.88414	1.086000	0.41228	0.533000	0.62120	GAT		0.358	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1		NM_020463		13	27	0	0	0	0.020292	0	13	27		
METTL21A	151194	broad.mit.edu	37	2	208477805	208477805	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr2:208477805C>T	ENST00000411432.1	-	4	838	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.E208K|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000272839.3_Missense_Mutation_p.E226K|METTL21A_ENST00000448007.2_Missense_Mutation_p.E208K|METTL21A_ENST00000426075.1_Missense_Mutation_p.E208K|METTL21A_ENST00000406927.2_Missense_Mutation_p.E208K	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	208					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						TTCTGTGCTTCGTAAATATGT	0.368																																						uc002vcf.2		NaN																	0					0						c.(622-624)GAA>AAA		hypothetical protein LOC151194							143.0	146.0	145.0					2																	208477805		2203	4300	6503	SO:0001583	missense	151194					integral to membrane	methyltransferase activity	g.chr2:208477805C>T	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.622G>A	2.37:g.208477805C>T	ENSP00000415115:p.Glu208Lys					FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Missense_Mutation_p.E208K|FAM119A_uc002vcg.3_Missense_Mutation_p.E208K	p.E208K	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)	4	782	-			208					Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	c.622G>A	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	C	5.330	0.246284	0.10130	.	.	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.13089	2.66;2.66;2.62;2.66;2.66;2.66	4.76	3.62	0.41486	.	0.282661	0.45126	N	0.000382	T	0.02688	0.0081	N	0.00382	-1.575	0.23266	N	0.998013	B	0.02656	0.0	B	0.01281	0.0	T	0.42498	-0.9448	10	0.02654	T	1	-10.4313	9.8832	0.41247	0.0:0.0826:0.0:0.9174	.	208	Q8WXB1	MT21A_HUMAN	K	208;208;226;208;208;208	ENSP00000415115:E208K;ENSP00000407622:E208K;ENSP00000272839:E226K;ENSP00000385481:E208K;ENSP00000403317:E208K;ENSP00000392062:E208K	ENSP00000272839:E226K	E	-	1	0	METTL21A	208186050	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.327000	0.33746	0.976000	0.38417	-0.367000	0.07326	GAA		0.368	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1		NM_145280		21	70	0	0	0	0.010504	0	21	70		
TGM6	343641	broad.mit.edu	37	20	2413265	2413265	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr20:2413265C>T	ENST00000202625.2	+	13	2158	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	TGM6_ENST00000381423.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	699					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTTTGTGATCGTCCATGTGG	0.567																																						uc002wfy.1		NaN																	0				ovary(3)|skin(1)	4						c.(2095-2097)ATC>ATT		transglutaminase 6	L-Glutamine(DB00130)						135.0	117.0	123.0					20																	2413265		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2413265C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.2097C>T	20.37:g.2413265C>T						TGM6_uc010gal.1_3'UTR	p.I699I	NM_198994	NP_945345	O95932	TGM3L_HUMAN			13	2158	+			699					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.2097C>T	CCDS13025.1																																																																																				0.567	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2		NM_198994		16	95	0	0	0	0.00499	0	16	95		
CTCFL	140690	broad.mit.edu	37	20	56093885	56093885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr20:56093885G>A	ENST00000608263.1	-	4	1649	c.988C>T	c.(988-990)Cga>Tga	p.R330*	CTCFL_ENST00000608425.1_Nonsense_Mutation_p.R330*|CTCFL_ENST00000481655.2_Nonsense_Mutation_p.R330*|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000502686.2_Nonsense_Mutation_p.R68*|CTCFL_ENST00000608158.1_Nonsense_Mutation_p.R330*|CTCFL_ENST00000422869.2_Nonsense_Mutation_p.R330*|CTCFL_ENST00000371196.2_Nonsense_Mutation_p.R330*|CTCFL_ENST00000429804.3_Nonsense_Mutation_p.R330*|CTCFL_ENST00000423479.3_Nonsense_Mutation_p.R330*|CTCFL_ENST00000608903.1_Nonsense_Mutation_p.R68*|CTCFL_ENST00000608440.1_Nonsense_Mutation_p.R330*|CTCFL_ENST00000539382.1_Nonsense_Mutation_p.R125*|CTCFL_ENST00000432255.2_Nonsense_Mutation_p.R330*|CTCFL_ENST00000243914.3_Nonsense_Mutation_p.R330*|CTCFL_ENST00000609232.1_Nonsense_Mutation_p.R330*|CTCFL_ENST00000433949.3_Nonsense_Mutation_p.R125*	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	330					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CGCCTGTGTCGGACGAGTTCT	0.433																																						uc010gix.1		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(988-990)CGA>TGA		CCCTC-binding factor-like protein							170.0	150.0	157.0					20																	56093885		2203	4300	6503	SO:0001587	stop_gained	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56093885G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.988C>T	20.37:g.56093885G>A	ENSP00000476783:p.Arg330*					CTCFL_uc010giw.1_Nonsense_Mutation_p.R330*|CTCFL_uc002xym.2_Nonsense_Mutation_p.R330*|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjb.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjc.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjd.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gje.2_Nonsense_Mutation_p.R330*|CTCFL_uc010gjf.2_Nonsense_Mutation_p.R125*|CTCFL_uc010gjg.2_Nonsense_Mutation_p.R62*|CTCFL_uc010gjh.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gji.1_Nonsense_Mutation_p.R125*|CTCFL_uc010gjj.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjk.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjl.1_Nonsense_Mutation_p.R330*	p.R330*	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		4	1650	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		330			C2H2-type 3.		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Nonsense_Mutation	SNP	ENST00000608263.1	37	c.988C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	38	7.236635	0.98154	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	.	.	.	4.77	2.74	0.32292	.	0.000000	0.35555	N	0.003135	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.3027	11.9633	0.53021	0.0:0.0:0.5478:0.4522	.	.	.	.	X	330;330;330;330;330;68;330;330;330;125;330	.	ENSP00000243914:R330X	R	-	1	2	CTCFL	55527291	1.000000	0.71417	0.072000	0.20136	0.013000	0.08279	2.799000	0.47892	0.492000	0.27815	-0.293000	0.09583	CGA		0.433	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1		NM_080618		7	96	0	0	0	0.00308	0	7	96		
SYNJ1	8867	broad.mit.edu	37	21	34011221	34011221	+	Silent	SNP	C	C	T	rs372695378		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr21:34011221C>T	ENST00000322229.7	-	30	3911	c.3912G>A	c.(3910-3912)ccG>ccA	p.P1304P	SYNJ1_ENST00000357345.3_Silent_p.P1288P|SYNJ1_ENST00000382499.2_Silent_p.P1343P|SYNJ1_ENST00000433931.2_Silent_p.P1343P|SYNJ1_ENST00000382491.3_Silent_p.P1257P			O43426	SYNJ1_HUMAN	synaptojanin 1	1304	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1304P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GACTTACTTGCGGTTGTGAGG	0.408																																						uc002yqh.2		NaN																	1	Substitution - coding silent(1)	p.P1304P(1)	ovary(1)	ovary(4)|skin(1)	5						c.(4027-4029)CCG>CCA		synaptojanin 1 isoform a							185.0	192.0	189.0					21																	34011221		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34011221C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3912G>A	21.37:g.34011221C>T						SYNJ1_uc011ads.1_Silent_p.P1257P|SYNJ1_uc002yqf.2_Silent_p.P1288P|SYNJ1_uc002yqg.2_Silent_p.P1257P|SYNJ1_uc002yqi.2_Silent_p.P1343P|SYNJ1_uc002yqe.3_5'UTR	p.P1343P	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			31	4029	-			1304			Pro-rich.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.4029G>A	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.298|0.298	-0.975504|-0.975504	0.02215|0.02215	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000438952|ENST00000418301	.|.	.|.	.|.	5.45|5.45	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.57636|0.57636	0.2067|0.2067	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52472|0.52472	-0.8571|-0.8571	4|4	.|.	.|.	.|.	.|.	11.0891|11.0891	0.48104|0.48104	0.0:0.4996:0.0:0.5004|0.0:0.4996:0.0:0.5004	.|.	.|.	.|.	.|.	T|H	180|125	.|.	.|.	A|R	-|-	1|2	0|0	SYNJ1|SYNJ1	32933092|32933092	0.261000|0.261000	0.24063|0.24063	0.016000|0.016000	0.15963|0.15963	0.073000|0.073000	0.16967|0.16967	-0.425000|-0.425000	0.07017|0.07017	-0.507000|-0.507000	0.06549|0.06549	-0.137000|-0.137000	0.14449|0.14449	GCA|CGC		0.408	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding					4	147	0	0	0	0.00308	0	4	147		
TCF20	6942	broad.mit.edu	37	22	42610592	42610592	+	Silent	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr22:42610592G>A	ENST00000359486.3	-	1	856	c.720C>T	c.(718-720)tcC>tcT	p.S240S	TCF20_ENST00000335626.4_Silent_p.S240S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	240	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaAGCAGAAG	0.512																																						uc003bcj.1		NaN																	0				ovary(4)|skin(1)	5						c.(718-720)TCC>TCT		transcription factor 20 isoform 1							97.0	82.0	87.0					22																	42610592		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610592G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.720C>T	22.37:g.42610592G>A						TCF20_uc003bck.1_Silent_p.S240S|TCF20_uc003bnt.2_Silent_p.S240S	p.S240S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	854	-			240			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.720C>T	CCDS14033.1																																																																																				0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492		3	45	0	0	0	0.004672	0	3	45		
COL7A1	1294	broad.mit.edu	37	3	48623808	48623808	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:48623808C>G	ENST00000328333.8	-	26	3614	c.3507G>C	c.(3505-3507)ttG>ttC	p.L1169F	COL7A1_ENST00000454817.1_Missense_Mutation_p.L1169F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1169	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTCACCTCTCAAGGGTTCAT	0.587																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(3505-3507)TTG>TTC		alpha 1 type VII collagen precursor							164.0	172.0	169.0					3																	48623808		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48623808C>G	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3507G>C	3.37:g.48623808C>G	ENSP00000332371:p.Leu1169Phe						p.L1169F	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	26	3508	-			1169			Nonhelical region (NC1).|VWFA 2.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.3507G>C	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386700	0.25031	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.83075	-1.68;-1.68	5.28	2.34	0.29019	von Willebrand factor, type A (2);	0.209202	0.23714	N	0.045283	T	0.72203	0.3431	N	0.24115	0.695	0.30722	N	0.74811	D	0.53312	0.959	P	0.49829	0.623	T	0.70912	-0.4743	10	0.56958	D	0.05	.	1.3369	0.02147	0.2805:0.412:0.1303:0.1772	.	1169	Q02388	CO7A1_HUMAN	F	1169	ENSP00000332371:L1169F;ENSP00000412569:L1169F	ENSP00000332371:L1169F	L	-	3	2	COL7A1	48598812	0.303000	0.24463	1.000000	0.80357	0.962000	0.63368	-0.369000	0.07533	1.355000	0.45865	0.561000	0.74099	TTG		0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		68	200	0	0	0	0.01441	0	68	200		
MON1A	84315	broad.mit.edu	37	3	49947848	49947848	+	Silent	SNP	G	G	A	rs151189958		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:49947848G>A	ENST00000417270.1	-	5	1800	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G	MON1A_ENST00000296473.3_Silent_p.G458G|MON1A_ENST00000483022.1_5'Flank|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Silent_p.G296G			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	361										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCAGGCCTCGCCCTCGCGAA	0.597																																						uc003cxz.2		NaN																	0				ovary(2)	2						c.(1372-1374)GGC>GGT		MON1 homolog A isoform a							60.0	57.0	58.0					3																	49947848		2203	4300	6503	SO:0001819	synonymous_variant	84315						protein binding	g.chr3:49947848G>A	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1107C>T	3.37:g.49947848G>A						MON1A_uc003cya.2_Silent_p.G296G|MON1A_uc003cyb.2_Silent_p.G296G	p.G458G	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1500	-			361					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Silent	SNP	ENST00000417270.1	37	c.1374C>T																																																																																					0.597	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2		NM_032355		8	43	0	0	0	0.004482	0	8	43		
FLNB	2317	broad.mit.edu	37	3	58154337	58154337	+	Missense_Mutation	SNP	G	G	A	rs142229998		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:58154337G>A	ENST00000295956.4	+	44	7534	c.7369G>A	c.(7369-7371)Ggt>Agt	p.G2457S	FLNB_ENST00000348383.5_Missense_Mutation_p.G2416S|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000490882.1_Missense_Mutation_p.G2488S|FLNB_ENST00000493452.1_Missense_Mutation_p.G2264S|FLNB_ENST00000358537.3_Missense_Mutation_p.G2433S|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000429972.2_Missense_Mutation_p.G2446S|FLNB_ENST00000419752.2_Missense_Mutation_p.G2277S|FLNB_ENST00000484981.1_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2457	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGTCAAATACGGTGGGCCCAA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19692	0.0		0.0	False		,,,				2504	0.0					uc003djj.2		NaN																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(7369-7371)GGT>AGT		filamin B isoform 2		G	SER/GLY,SER/GLY,SER/GLY,SER/GLY	3,4403	6.2+/-15.9	0,3,2200	108.0	91.0	97.0		7462,7336,7297,7369	3.8	1.0	3	dbSNP_134	97	0,8600		0,0,4300	no	missense,missense,missense,missense	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	56,56,56,56	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	2488/2634,2446/2592,2433/2579,2457/2603	58154337	3,13003	2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58154337G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7369G>A	3.37:g.58154337G>A	ENSP00000295956:p.Gly2457Ser					FLNB_uc010hne.2_Missense_Mutation_p.G2488S|FLNB_uc003djk.2_Missense_Mutation_p.G2446S|FLNB_uc010hnf.2_Missense_Mutation_p.G2433S|FLNB_uc003djl.2_Missense_Mutation_p.G2277S|FLNB_uc003djm.2_Missense_Mutation_p.G2264S|uc003djn.2_Intron	p.G2457S	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	44	7534	+			2457			Filamin 23.|Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.7369G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653911	0.88056	6.81E-4	0.0	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	4.67	3.8	0.43715	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051453	0.85682	N	0.000000	D	0.90844	0.7124	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.926;1.0;0.971;0.993;1.0	D	0.91355	0.5107	10	0.72032	D	0.01	.	12.6452	0.56731	0.0794:0.0:0.9206:0.0	.	2433;2488;2264;2277;2446;2457	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	S	2457;2488;2433;2446;2416;2264;2277	ENSP00000295956:G2457S;ENSP00000420213:G2488S;ENSP00000351339:G2433S;ENSP00000415599:G2446S;ENSP00000232447:G2416S;ENSP00000418510:G2264S;ENSP00000414532:G2277S	ENSP00000295956:G2457S	G	+	1	0	FLNB	58129377	1.000000	0.71417	0.982000	0.44146	0.840000	0.47671	9.657000	0.98554	1.191000	0.43056	0.563000	0.77884	GGT		0.532	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457		13	48	0	0	0	0.024245	0	13	48		
PDZRN3	23024	broad.mit.edu	37	3	73433185	73433185	+	Silent	SNP	G	G	A	rs371635820		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:73433185G>A	ENST00000263666.4	-	10	2646	c.2532C>T	c.(2530-2532)gaC>gaT	p.D844D	PDZRN3_ENST00000535920.1_Silent_p.D566D|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Silent_p.D561D|PDZRN3_ENST00000462146.2_Silent_p.D501D|PDZRN3_ENST00000466780.1_Silent_p.D501D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	844					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D844E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCGGCTCCCGTCGCTGGCTC	0.667																																						uc003dpl.1		NaN																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2530-2532)GAC>GAT		PDZ domain containing ring finger 3		G		2,4402	4.2+/-10.8	0,2,2200	37.0	43.0	41.0		2532	-10.3	0.0	3		41	0,8600		0,0,4300	no	coding-synonymous	PDZRN3	NM_015009.1		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		844/1067	73433185	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433185G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2532C>T	3.37:g.73433185G>A						PDZRN3_uc011bgh.1_Silent_p.D501D|PDZRN3_uc010hoe.1_Silent_p.D542D|PDZRN3_uc011bgf.1_Silent_p.D561D|PDZRN3_uc011bgg.1_Silent_p.D564D	p.D844D	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2628	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	844					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2532C>T	CCDS33789.1																																																																																				0.667	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1		XM_041363		28	38	0	0	0	0.007291	0	28	38		
FXR1	8087	broad.mit.edu	37	3	180666136	180666136	+	Splice_Site	SNP	T	T	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:180666136T>A	ENST00000357559.4	+	5	656	c.272T>A	c.(271-273)tTt>tAt	p.F91Y	FXR1_ENST00000305586.7_Splice_Site_p.F6Y|FXR1_ENST00000480918.1_Splice_Site_p.F78Y|FXR1_ENST00000468861.1_Splice_Site_p.F6Y|FXR1_ENST00000445140.2_Splice_Site_p.F91Y|FXR1_ENST00000491062.1_Splice_Site_p.F42Y	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	91	Agenet-like 2.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GTCTTTTAGTTTTATGTCATT	0.318																																						uc003fkq.2		NaN																	0				breast(1)	1						c.(271-273)TTT>TAT		fragile X mental retardation-related protein 1							32.0	33.0	33.0					3																	180666136		2201	4298	6499	SO:0001630	splice_region_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180666136T>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.271-1T>A	3.37:g.180666136T>A						FXR1_uc003fkp.2_Missense_Mutation_p.F6Y|FXR1_uc003fkr.2_Missense_Mutation_p.F91Y|FXR1_uc011bqj.1_Missense_Mutation_p.F5Y|FXR1_uc003fks.2_Missense_Mutation_p.F5Y|FXR1_uc011bqk.1_Missense_Mutation_p.F42Y|FXR1_uc011bql.1_Missense_Mutation_p.F78Y	p.F91Y	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		5	294	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		91					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.272T>A	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	T	34	5.309203	0.95629	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918;ENST00000484042	T;T;T;T;T;T;T;T;T;T;T	0.58797	0.54;0.31;0.53;1.49;1.17;0.82;0.67;0.82;0.48;1.25;0.6	5.83	5.83	0.93111	Agenet (1);	0.000000	0.85682	D	0.000000	T	0.78496	0.4292	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;P	0.76494	0.992;0.999;0.997;0.957;0.997;0.932	D;D;D;B;D;D	0.87578	0.994;0.998;0.991;0.429;0.983;0.949	T	0.81915	-0.0714	10	0.87932	D	0	-22.1806	16.2005	0.82071	0.0:0.0:0.0:1.0	.	78;42;6;6;91;91	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	Y	6;6;6;91;6;42;6;91;6;78;95	ENSP00000419793:F6Y;ENSP00000417125:F6Y;ENSP00000418724:F6Y;ENSP00000350170:F91Y;ENSP00000307633:F6Y;ENSP00000420643:F42Y;ENSP00000420515:F6Y;ENSP00000388828:F91Y;ENSP00000419933:F6Y;ENSP00000418097:F78Y;ENSP00000417513:F95Y	ENSP00000307633:F6Y	F	+	2	0	FXR1	182148830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.227000	0.72691	0.528000	0.53228	TTT		0.318	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			Missense_Mutation	4	25	0	0	0	0.021553	0	4	25		
CDS1	1040	broad.mit.edu	37	4	85553028	85553028	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr4:85553028A>G	ENST00000295887.5	+	6	1060	c.637A>G	c.(637-639)Atg>Gtg	p.M213V		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GCAGTTTTATATGGTGTGTAT	0.338																																						uc011ccv.1		NaN																	0				large_intestine(2)|ovary(1)|breast(1)	4						c.(637-639)ATG>GTG		CDP-diacylglycerol synthase 1							226.0	220.0	222.0					4																	85553028		2202	4300	6502	SO:0001583	missense	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85553028A>G	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.637A>G	4.37:g.85553028A>G	ENSP00000295887:p.Met213Val					CDS1_uc010ike.1_Missense_Mutation_p.M17V	p.M213V	NM_001263	NP_001254	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	6	1135	+		Hepatocellular(203;0.114)	213					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	c.637A>G	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.278245	0.80692	.	.	ENSG00000163624	ENST00000295887	T	0.39406	1.08	5.93	5.93	0.95920	.	0.111955	0.85682	D	0.000000	T	0.45498	0.1345	L	0.42581	1.335	0.80722	D	1	P	0.37548	0.599	P	0.48334	0.574	T	0.21999	-1.0229	10	0.07990	T	0.79	-28.3622	16.3839	0.83495	1.0:0.0:0.0:0.0	.	213	Q92903	CDS1_HUMAN	V	213	ENSP00000295887:M213V	ENSP00000295887:M213V	M	+	1	0	CDS1	85772052	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.310000	0.96267	2.258000	0.74832	0.533000	0.62120	ATG		0.338	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2				16	70	0	0	0	0.006122	0	16	70		
PLK4	10733	broad.mit.edu	37	4	128807800	128807800	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr4:128807800C>A	ENST00000270861.5	+	5	1549	c.1275C>A	c.(1273-1275)aaC>aaA	p.N425K	PLK4_ENST00000515069.1_Missense_Mutation_p.N425K|PLK4_ENST00000507249.1_Intron|PLK4_ENST00000514379.1_Missense_Mutation_p.N384K|PLK4_ENST00000513090.1_Missense_Mutation_p.N393K	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	425					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CCACAGACAACAATGCCAACA	0.368																																					Colon(135;508 1718 19061 31832 42879)	uc003ifo.2		NaN																	0					0						c.(1273-1275)AAC>AAA		polo-like kinase 4							87.0	79.0	82.0					4																	128807800		2203	4300	6503	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128807800C>A	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.1275C>A	4.37:g.128807800C>A	ENSP00000270861:p.Asn425Lys					PLK4_uc011cgs.1_Missense_Mutation_p.N393K|PLK4_uc011cgt.1_Missense_Mutation_p.N384K	p.N425K	NM_014264	NP_055079	O00444	PLK4_HUMAN			5	1520	+			425					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.1275C>A	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.342681	0.01277	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000514379	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.16	0.394	0.16299	.	0.639424	0.17680	N	0.165667	T	0.19525	0.0469	N	0.22421	0.69	0.09310	N	1	B;B	0.17465	0.022;0.005	B;B	0.15870	0.014;0.006	T	0.15178	-1.0446	10	0.29301	T	0.29	.	5.7689	0.18241	0.0:0.5141:0.1286:0.3573	.	393;425	O00444-2;O00444	.;PLK4_HUMAN	K	425;425;393;384	ENSP00000270861:N425K;ENSP00000421774:N425K;ENSP00000427554:N393K;ENSP00000423582:N384K	ENSP00000270861:N425K	N	+	3	2	PLK4	129027250	1.000000	0.71417	0.022000	0.16811	0.007000	0.05969	1.504000	0.35726	0.076000	0.16826	-0.165000	0.13383	AAC		0.368	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3				3	37	1	0	0.004672	0.004672	0.00485522	3	37		
TLR3	7098	broad.mit.edu	37	4	187005188	187005188	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr4:187005188C>G	ENST00000296795.3	+	4	2452	c.2348C>G	c.(2347-2349)tCt>tGt	p.S783C	TLR3_ENST00000504367.1_Missense_Mutation_p.S506C	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	783	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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)		GAAGACCAATCTCTCAAATTT	0.353																																						uc003iyq.2		NaN																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(2347-2349)TCT>TGT		toll-like receptor 3 precursor							79.0	84.0	82.0					4																	187005188		2203	4299	6502	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187005188C>G	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.2348C>G	4.37:g.187005188C>G	ENSP00000296795:p.Ser783Cys					TLR3_uc011ckz.1_Missense_Mutation_p.S506C|TLR3_uc003iyr.2_Missense_Mutation_p.S506C	p.S783C	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	2449	+		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)	783			Cytoplasmic (Potential).|TIR.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.2348C>G	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581815	0.46006	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.02606	4.23;4.23	5.87	5.87	0.94306	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.562187	0.19875	N	0.104101	T	0.05960	0.0155	L	0.35542	1.07	0.09310	N	1	P	0.48911	0.917	P	0.55667	0.781	T	0.37244	-0.9714	10	0.49607	T	0.09	.	8.8154	0.34993	0.1509:0.7695:0.0:0.0795	.	783	O15455	TLR3_HUMAN	C	783;783;506	ENSP00000296795:S783C;ENSP00000423684:S506C	ENSP00000296795:S783C	S	+	2	0	TLR3	187242182	0.005000	0.15991	0.973000	0.42090	0.936000	0.57629	1.870000	0.39529	2.778000	0.95560	0.650000	0.86243	TCT		0.353	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4				17	61	0	0	0	0.00499	0	17	61		
PAIP1	10605	broad.mit.edu	37	5	43556029	43556029	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr5:43556029A>T	ENST00000306846.3	-	2	570	c.338T>A	c.(337-339)aTg>aAg	p.M113K	PAIP1_ENST00000514514.1_Missense_Mutation_p.M34K|PAIP1_ENST00000436644.2_Missense_Mutation_p.M34K|PAIP1_ENST00000338972.4_Start_Codon_SNP_p.M1K	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	113					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GGGCTTAGCCATTGCTGACTC	0.473																																						uc003job.2		NaN																	0				ovary(1)	1						c.(337-339)ATG>AAG		poly(A) binding protein interacting protein 1							150.0	161.0	157.0					5																	43556029		2203	4300	6503	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43556029A>T	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.338T>A	5.37:g.43556029A>T	ENSP00000302768:p.Met113Lys					PAIP1_uc003joa.2_Missense_Mutation_p.M34K|PAIP1_uc010ivp.2_Missense_Mutation_p.M34K|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.M1K	p.M113K	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			2	585	-	Lung NSC(6;2.07e-05)		113					A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.338T>A	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.549070	0.65311	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000515338	T;T;T;T;T;T	0.34072	1.48;1.55;1.4;1.55;1.38;1.4	5.56	5.56	0.83823	.	0.501171	0.21526	N	0.073121	T	0.20536	0.0494	N	0.19112	0.55	0.44908	D	0.997926	B;B;B	0.34015	0.072;0.308;0.435	B;B;B	0.26517	0.016;0.047;0.07	T	0.06481	-1.0824	10	0.05721	T	0.95	-12.6423	15.7079	0.77598	1.0:0.0:0.0:0.0	.	34;113;34	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	K	113;34;1;34;1;1;1	ENSP00000302768:M113K;ENSP00000387729:M34K;ENSP00000339622:M1K;ENSP00000425084:M34K;ENSP00000425675:M1K;ENSP00000425736:M1K	ENSP00000302768:M113K	M	-	2	0	PAIP1	43591786	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.293000	0.72731	2.108000	0.64289	0.459000	0.35465	ATG		0.473	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1		NM_006451		62	60	0	0	0	0.01441	0	62	60		
ATXN1	6310	broad.mit.edu	37	6	16327275	16327275	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:16327275G>A	ENST00000244769.4	-	8	2203	c.1267C>T	c.(1267-1269)Cac>Tac	p.H423Y	ATXN1_ENST00000436367.1_Missense_Mutation_p.H423Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	423					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TAGGACCGGTGGCCAGGCTTC	0.622																																						uc003nbt.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(1267-1269)CAC>TAC		ataxin 1							142.0	152.0	149.0					6																	16327275		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327275G>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1267C>T	6.37:g.16327275G>A	ENSP00000244769:p.His423Tyr					ATXN1_uc010jpi.2_Missense_Mutation_p.H423Y|ATXN1_uc010jpj.1_Intron	p.H423Y	NM_000332	NP_000323	P54253	ATX1_HUMAN			8	2238	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	423					Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.1267C>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063517	0.55432	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.77358	-1.09;-1.09	4.86	4.86	0.63082	.	0.367409	0.33691	N	0.004641	T	0.74824	0.3767	N	0.24115	0.695	0.34817	D	0.738327	D	0.63880	0.993	D	0.65140	0.932	T	0.78277	-0.2266	10	0.46703	T	0.11	-22.639	17.9977	0.89189	0.0:0.0:1.0:0.0	.	423	P54253	ATX1_HUMAN	Y	423	ENSP00000244769:H423Y;ENSP00000416360:H423Y	ENSP00000244769:H423Y	H	-	1	0	ATXN1	16435254	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.686000	0.54685	2.241000	0.73720	0.561000	0.74099	CAC		0.622	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3		NM_000332		75	80	0	0	0	0.01441	0	75	80		
TCTE1	202500	broad.mit.edu	37	6	44255546	44255546	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:44255546G>A	ENST00000371505.4	-	2	139	c.17C>T	c.(16-18)aCg>aTg	p.T6M	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_5'Flank|TCTE1_ENST00000371503.3_De_novo_Start_InFrame|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	6										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGATGTCGTTACGGTATC	0.557																																						uc003oxi.2		NaN																	0				ovary(2)|skin(2)	4						c.(16-18)ACG>ATG		t-complex-associated testis expressed 1							123.0	86.0	99.0					6																	44255546		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44255546G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.17C>T	6.37:g.44255546G>A	ENSP00000360560:p.Thr6Met					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.T6M	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	173	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		6					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.17C>T	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	9.283	1.048655	0.19827	.	.	ENSG00000146221	ENST00000371505	T	0.26373	1.74	3.72	-0.143	0.13444	.	0.775970	0.10788	N	0.634031	T	0.07728	0.0194	L	0.51422	1.61	0.09310	N	0.999999	B	0.24368	0.102	B	0.17722	0.019	T	0.35400	-0.9790	10	0.72032	D	0.01	2.432	3.8296	0.08868	0.3195:0.1817:0.4988:0.0	.	6	Q5JU00	TCTE1_HUMAN	M	6	ENSP00000360560:T6M	ENSP00000360560:T6M	T	-	2	0	TCTE1	44363524	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.258000	0.18387	-0.049000	0.13379	-0.373000	0.07131	ACG		0.557	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1		NM_182539		6	24	0	0	0	0.004482	0	6	24		
SOGA3	387104	broad.mit.edu	37	6	127796588	127796588	+	Silent	SNP	G	G	A	rs374876819		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:127796588G>A	ENST00000525778.1	-	6	3328	c.2583C>T	c.(2581-2583)gaC>gaT	p.D861D	SOGA3_ENST00000556132.1_Silent_p.D861D|SOGA3_ENST00000465909.2_Silent_p.D861D|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Silent_p.D861D|SOGA3_ENST00000368268.2_Silent_p.D861D			Q5TF21	SOGA3_HUMAN	SOGA family member 3	861					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.D861D(1)									TGCGGCTGCCGTCGTCCTCCT	0.642																																						uc003qbd.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	breast(3)|ovary(2)|skin(1)	6						c.(2581-2583)GAC>GAT		hypothetical protein LOC387104 precursor							55.0	67.0	63.0					6																	127796588		2169	4269	6438	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127796588G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2583C>T	6.37:g.127796588G>A						C6orf174_uc003qbc.2_Translation_Start_Site	p.D861D	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3448	-			861						Silent	SNP	ENST00000525778.1	37	c.2583C>T	CCDS43505.1																																																																																				0.642	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1		NM_001012279		25	47	0	0	0	0.024334	0	25	47		
GRM1	2911	broad.mit.edu	37	6	146720574	146720574	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:146720574C>A	ENST00000282753.1	+	7	2634	c.2399C>A	c.(2398-2400)gCt>gAt	p.A800D	GRM1_ENST00000507907.1_Missense_Mutation_p.A800D|GRM1_ENST00000492807.2_Missense_Mutation_p.A800D|GRM1_ENST00000355289.4_Missense_Mutation_p.A800D|GRM1_ENST00000392299.2_Missense_Mutation_p.A800D|GRM1_ENST00000361719.2_Missense_Mutation_p.A800D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	800					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ATCTGGCTAGCTTTTGTGCCC	0.493																																						uc010khw.1		NaN																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2398-2400)GCT>GAT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						171.0	143.0	153.0					6																	146720574		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720574C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2399C>A	6.37:g.146720574C>A	ENSP00000282753:p.Ala800Asp					GRM1_uc010khv.1_Missense_Mutation_p.A800D|GRM1_uc003qll.2_Missense_Mutation_p.A800D|GRM1_uc011edz.1_Missense_Mutation_p.A800D|GRM1_uc011eea.1_Missense_Mutation_p.A800D	p.A800D	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2869	+		Ovarian(120;0.0387)	800			Helical; Name=6; (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2399C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709381	0.89018	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67;-2.67	5.68	5.68	0.88126	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96706	0.8925	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97131	0.9818	10	0.87932	D	0	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	800;800;800	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	D	800	ENSP00000354896:A800D;ENSP00000376119:A800D;ENSP00000424095:A800D;ENSP00000282753:A800D;ENSP00000347437:A800D;ENSP00000425599:A800D	ENSP00000282753:A800D	A	+	2	0	GRM1	146762267	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	2.686000	0.91538	0.585000	0.79938	GCT		0.493	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1		NM_000838		26	69	1	0	2.47511e-08	0.008361	2.67716e-08	26	69		
STXBP5	134957	broad.mit.edu	37	6	147527160	147527160	+	Silent	SNP	A	A	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:147527160A>G	ENST00000321680.6	+	2	204	c.204A>G	c.(202-204)gtA>gtG	p.V68V	STXBP5_ENST00000546097.1_Silent_p.V68V|STXBP5_ENST00000367481.3_Silent_p.V68V|STXBP5_ENST00000367480.3_Silent_p.V68V|STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000179882.6_5'UTR|STXBP5-AS1_ENST00000427394.1_RNA	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	68					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTGATCCTGTACAGAAGATCC	0.463																																						uc003qlz.2		NaN																	0					0						c.(202-204)GTA>GTG		syntaxin binding protein 5 (tomosyn) isoform b							169.0	152.0	158.0					6																	147527160		2203	4300	6503	SO:0001819	synonymous_variant	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147527160A>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.204A>G	6.37:g.147527160A>G						uc003qlt.1_5'Flank|uc003qlu.1_5'Flank|STXBP5_uc010khz.1_Silent_p.V68V|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR	p.V68V	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	2	365	+		Ovarian(120;0.0164)	68			WD 1.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.204A>G	CCDS47499.1																																																																																				0.463	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1				35	25	0	0	0	0.007835	0	35	25		
SYNE1	23345	broad.mit.edu	37	6	152675920	152675920	+	Silent	SNP	C	C	T	rs114858512	byFrequency	TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:152675920C>T	ENST00000367255.5	-	67	11401	c.10800G>A	c.(10798-10800)ttG>ttA	p.L3600L	SYNE1_ENST00000448038.1_Silent_p.L3607L|SYNE1_ENST00000341594.5_Silent_p.L3571L|SYNE1_ENST00000265368.4_Silent_p.L3600L|SYNE1_ENST00000423061.1_Silent_p.L3607L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3600					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)		CCATTAGCCTCAATTTGTTCA	0.502										HNSCC(10;0.0054)			C|||	6	0.00119808	0.0045	0.0	5008	,	,		18894	0.0		0.0	False		,,,				2504	0.0					uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(10798-10800)TTG>TTA		spectrin repeat containing, nuclear envelope 1		C	,	11,4395	17.9+/-39.9	0,11,2192	188.0	167.0	174.0		10821,10800	5.3	1.0	6	dbSNP_133	174	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	,	3607/8750,3600/8798	152675920	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152675920C>T	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.10800G>A	6.37:g.152675920C>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.L3607L|SYNE1_uc003qou.3_Silent_p.L3600L|SYNE1_uc010kja.1_Silent_p.L305L	p.L3600L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	67	11402	-		Ovarian(120;0.0955)	3600			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.10800G>A	CCDS5236.2																																																																																				0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		17	60	0	0	0	0.00499	0	17	60		
GPR31	2853	broad.mit.edu	37	6	167570440	167570440	+	Missense_Mutation	SNP	G	G	A	rs375031842		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:167570440G>A	ENST00000366834.1	-	1	1377	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	294					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AAGACCCTCCGATAGGAGCTC	0.597																																						uc011egq.1		NaN																	0					0						c.(880-882)CGG>TGG		G protein-coupled receptor 31							58.0	60.0	59.0					6																	167570440		2203	4300	6503	SO:0001583	missense	2853					integral to plasma membrane	G-protein coupled receptor activity	g.chr6:167570440G>A	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.880C>T	6.37:g.167570440G>A	ENSP00000355799:p.Arg294Trp						p.R294W	NM_005299	NP_005290	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	1	880	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	294			Cytoplasmic (Potential).		B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	c.880C>T	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763947	0.49574	.	.	ENSG00000120436	ENST00000366834	T	0.40225	1.04	3.54	0.139	0.14798	.	0.000000	0.33057	U	0.005334	T	0.29914	0.0748	N	0.24115	0.695	0.25714	N	0.985455	D	0.89917	1.0	D	0.71414	0.973	T	0.28106	-1.0054	10	0.72032	D	0.01	-34.7958	11.047	0.47865	0.0:0.0:0.5238:0.4762	.	294	O00270	GPR31_HUMAN	W	294	ENSP00000355799:R294W	ENSP00000355799:R294W	R	-	1	2	GPR31	167490430	0.073000	0.21202	0.942000	0.38095	0.917000	0.54804	0.359000	0.20233	0.183000	0.20059	0.313000	0.20887	CGG		0.597	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1		NM_005299		3	33	0	0	0	0.004672	0	3	33		
ZNF716	441234	broad.mit.edu	37	7	57522240	57522240	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:57522240G>T	ENST00000420713.1	+	2	226	c.114G>T	c.(112-114)caG>caT	p.Q38H		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATGCTCAGCAGAATTTATATA	0.373																																						uc011kdi.1		NaN																	0				ovary(2)	2						c.(112-114)CAG>CAT		zinc finger protein 716							64.0	59.0	60.0					7																	57522240		692	1591	2283	SO:0001583	missense	441234							g.chr7:57522240G>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.114G>T	7.37:g.57522240G>T	ENSP00000394248:p.Gln38His						p.Q38H	NM_001159279	NP_001152751					2	226	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.114G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484773	0.26598	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.01838	4.61	0.85	0.85	0.18980	Krueppel-associated box (4);	.	.	.	.	T	0.09379	0.0231	M	0.84773	2.715	0.09310	N	1	D	0.54397	0.966	P	0.58331	0.837	T	0.07927	-1.0747	9	0.87932	D	0	.	7.1155	0.25414	0.0:0.0:1.0:0.0	.	26	A6NP11	ZN716_HUMAN	H	38;26	ENSP00000394248:Q38H	ENSP00000387687:Q26H	Q	+	3	2	ZNF716	57526182	0.001000	0.12720	0.020000	0.16555	0.019000	0.09904	0.425000	0.21346	0.293000	0.22520	0.298000	0.19748	CAG		0.373	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1		NM_001159279		5	57	1	0	0.000274275	0.004482	0.000293668	5	57		
SPDYE3	441272	broad.mit.edu	37	7	99917269	99917269	+	Silent	SNP	T	T	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:99917269T>C	ENST00000332397.6	+	9	1612	c.1428T>C	c.(1426-1428)tcT>tcC	p.S476S	SPDYE3_ENST00000437326.2_Silent_p.S99S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	476										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						AGACCCACTCTCACATACCCT	0.532																																						uc003uug.1		NaN																	0					0						c.(295-297)TCT>TCC		speedy homolog E3							127.0	135.0	133.0					7																	99917269		2203	4300	6503	SO:0001819	synonymous_variant	441272							g.chr7:99917269T>C	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1428T>C	7.37:g.99917269T>C						uc011kjm.1_5'Flank	p.S99S	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN			4	537	+			476					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.297T>C	CCDS47658.2																																																																																				0.532	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2		NM_001004351		24	57	0	0	0	0.01892	0	24	57		
ASB15	142685	broad.mit.edu	37	7	123269135	123269135	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:123269135G>A	ENST00000451558.1	+	12	1608	c.1087G>A	c.(1087-1089)Gtt>Att	p.V363I	ASB15_ENST00000434204.1_Missense_Mutation_p.V363I|ASB15_ENST00000451215.1_Missense_Mutation_p.V363I|ASB15_ENST00000275699.3_Missense_Mutation_p.V363I|ASB15_ENST00000540573.1_Missense_Mutation_p.V363I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	363					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TAATAATGACGTTCATTGCAC	0.438																																						uc003vku.1		NaN																	0				skin(2)|lung(1)	3						c.(1087-1089)GTT>ATT		ankyrin repeat and SOCS box-containing 15							144.0	129.0	134.0					7																	123269135		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269135G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1087G>A	7.37:g.123269135G>A	ENSP00000397655:p.Val363Ile					ASB15_uc003vkw.1_Missense_Mutation_p.V363I	p.V363I	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			10	1379	+			363			ANK 7.		Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1087G>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	0.797	-0.756933	0.03019	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	6.17	4.96	0.65561	Ankyrin repeat-containing domain (4);	0.142946	0.48767	N	0.000163	T	0.37544	0.1007	N	0.13003	0.285	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.28870	-1.0030	10	0.02654	T	1	-8.4562	8.4844	0.33063	0.8367:0.0:0.1633:0.0	.	363	Q8WXK1	ASB15_HUMAN	I	363;363;363;363;152;363	ENSP00000397655:V363I;ENSP00000390963:V363I;ENSP00000416433:V363I;ENSP00000438643:V363I;ENSP00000275699:V363I	ENSP00000275699:V363I	V	+	1	0	ASB15	123056371	0.653000	0.27358	0.221000	0.23827	0.206000	0.24218	2.010000	0.40913	1.058000	0.40530	-0.345000	0.07892	GTT		0.438	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1				35	41	0	0	0	0.021022	0	35	41		
ZNF212	7988	broad.mit.edu	37	7	148950982	148950982	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:148950982G>C	ENST00000335870.2	+	5	1092	c.964G>C	c.(964-966)Gag>Cag	p.E322Q		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TTCTGAGTGTGAGATCACCTT	0.567																																						uc003wfp.2		NaN																	0				ovary(1)	1						c.(964-966)GAG>CAG		zinc finger protein 212							41.0	41.0	41.0					7																	148950982		2203	4300	6503	SO:0001583	missense	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148950982G>C	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.964G>C	7.37:g.148950982G>C	ENSP00000338572:p.Glu322Gln						p.E322Q	NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		5	1060	+	Melanoma(164;0.15)		322			C2H2-type 1.		B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	c.964G>C	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	7.850	0.723781	0.15439	.	.	ENSG00000170260	ENST00000335870	T	0.50813	0.73	5.31	2.48	0.30137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.800947	0.11143	N	0.595118	T	0.37320	0.0999	L	0.41710	1.295	0.09310	N	1	B	0.15473	0.013	B	0.15870	0.014	T	0.30736	-0.9968	10	0.52906	T	0.07	-7.6058	6.8195	0.23849	0.1652:0.1504:0.6844:0.0	.	322	Q9UDV6	ZN212_HUMAN	Q	322	ENSP00000338572:E322Q	ENSP00000338572:E322Q	E	+	1	0	ZNF212	148581915	0.049000	0.20398	0.001000	0.08648	0.658000	0.38924	2.338000	0.43957	0.223000	0.20920	0.655000	0.94253	GAG		0.567	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1		NM_012256		4	43	0	0	0	0.009096	0	4	43		
KMT2C	58508	broad.mit.edu	37	7	151962241	151962241	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:151962241G>C	ENST00000262189.6	-	8	1284	c.1066C>G	c.(1066-1068)Cag>Gag	p.Q356E	KMT2C_ENST00000355193.2_Missense_Mutation_p.Q356E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	356					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q356K(4)									CAAAAGAACTGATCTAAGAGG	0.413																																						uc003wla.2		NaN								N							medulloblastoma		4	Substitution - Missense(4)		lung(4)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1066-1068)CAG>GAG		myeloid/lymphoid or mixed-lineage leukemia 3							213.0	197.0	203.0					7																	151962241		2203	4297	6500	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962241G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1066C>G	7.37:g.151962241G>C	ENSP00000262189:p.Gln356Glu						p.Q356E	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1285	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	356			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1066C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233733	0.39498	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98835	-5.17;-5.17	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.39615	U	0.001311	D	0.98560	0.9519	L	0.47716	1.5	0.80722	D	1	D	0.54964	0.969	D	0.64877	0.93	D	0.99904	1.1173	10	0.72032	D	0.01	.	17.9157	0.88950	0.0:0.0:1.0:0.0	.	356	Q8NEZ4	MLL3_HUMAN	E	356	ENSP00000262189:Q356E;ENSP00000347325:Q356E	ENSP00000262189:Q356E	Q	-	1	0	MLL3	151593174	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	9.813000	0.99286	2.271000	0.75665	0.557000	0.71058	CAG		0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				12	271	0	0	0	0.028581	0	12	271		
TEX15	56154	broad.mit.edu	37	8	30704505	30704505	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr8:30704505C>T	ENST00000256246.2	-	1	2103	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	677					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTCAATTTCACTTTCCAAT	0.289																																						uc003xil.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(2029-2031)GAA>AAA		testis expressed 15							45.0	45.0	45.0					8																	30704505		2203	4297	6500	SO:0001583	missense	56154							g.chr8:30704505C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2029G>A	8.37:g.30704505C>T	ENSP00000256246:p.Glu677Lys						p.E677K	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	2029	-			677						Missense_Mutation	SNP	ENST00000256246.2	37	c.2029G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549161	0.27652	.	.	ENSG00000133863	ENST00000256246	T	0.23552	1.9	5.78	4.88	0.63580	.	0.206543	0.33534	N	0.004812	T	0.19046	0.0457	N	0.20986	0.625	0.34222	D	0.67556	P	0.49358	0.923	B	0.42771	0.397	T	0.30327	-0.9982	10	0.87932	D	0	.	10.0285	0.42085	0.0:0.9031:0.0:0.0969	.	677	Q9BXT5	TEX15_HUMAN	K	677	ENSP00000256246:E677K	ENSP00000256246:E677K	E	-	1	0	TEX15	30824047	0.994000	0.37717	0.957000	0.39632	0.030000	0.12068	3.056000	0.49923	1.381000	0.46364	0.655000	0.94253	GAA		0.289	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1				6	19	0	0	0	0.00308	0	6	19		
CYP11B2	1585	broad.mit.edu	37	8	143994845	143994845	+	Missense_Mutation	SNP	G	G	A	rs377490679		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr8:143994845G>A	ENST00000323110.2	-	6	979	c.977C>T	c.(976-978)aCg>aTg	p.T326M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	326					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CTCAAAGAGCGTCATCAGCAA	0.627									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0	0.0	5008	,	,		17826	0.0		0.0	False		,,,				2504	0.001					uc003yxk.1		NaN																	0					0						c.(976-978)ACG>ATG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)	G	MET/THR	1,4405		0,1,2202	77.0	73.0	74.0		977	3.9	0.9	8		74	0,8600		0,0,4300	no	missense	CYP11B2	NM_000498.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	326/504	143994845	1,13005	2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994845G>A	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.977C>T	8.37:g.143994845G>A	ENSP00000325822:p.Thr326Met						p.T326M	NM_000498	NP_000489	P19099	C11B2_HUMAN			6	980	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		326					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.977C>T	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	15.08	2.725888	0.48833	2.27E-4	0.0	ENSG00000179142	ENST00000323110	T	0.68331	-0.32	3.88	3.88	0.44766	.	0.411149	0.20729	N	0.086744	T	0.69006	0.3063	M	0.72894	2.215	0.28746	N	0.901693	P	0.51791	0.948	P	0.46659	0.523	T	0.68055	-0.5510	10	0.46703	T	0.11	.	13.4436	0.61127	0.0:0.0:1.0:0.0	.	326	P19099	C11B2_HUMAN	M	326	ENSP00000325822:T326M	ENSP00000325822:T326M	T	-	2	0	CYP11B2	143991847	0.994000	0.37717	0.888000	0.34837	0.352000	0.29268	2.287000	0.43505	1.991000	0.58162	0.558000	0.71614	ACG		0.627	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1				43	69	0	0	0	0.01441	0	43	69		
RFX3	5991	broad.mit.edu	37	9	3277363	3277363	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:3277363C>T	ENST00000382004.3	-	9	1261	c.950G>A	c.(949-951)aGc>aAc	p.S317N	RFX3_ENST00000302303.1_Missense_Mutation_p.S317N|RFX3_ENST00000358730.2_Missense_Mutation_p.S317N	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	317					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATGATGTTGGCTTTGGGCAAT	0.403																																						uc003zhr.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(949-951)AGC>AAC		regulatory factor X3 isoform b							186.0	161.0	170.0					9																	3277363		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3277363C>T	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.950G>A	9.37:g.3277363C>T	ENSP00000371434:p.Ser317Asn					RFX3_uc010mhd.2_Missense_Mutation_p.S317N|RFX3_uc003zhs.1_Missense_Mutation_p.S317N|RFX3_uc003zht.1_Missense_Mutation_p.S317N|RFX3_uc010mhe.1_Missense_Mutation_p.S292N	p.S317N	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	9	1262	-			317					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.950G>A	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253449	0.59212	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.59083	0.29;0.3;0.3	5.56	5.56	0.83823	.	0.040308	0.85682	D	0.000000	T	0.61800	0.2376	L	0.49778	1.585	0.80722	D	1	P;B;B	0.50943	0.94;0.005;0.038	P;B;B	0.48598	0.583;0.021;0.013	T	0.58142	-0.7688	10	0.31617	T	0.26	-13.6564	19.5327	0.95235	0.0:1.0:0.0:0.0	.	317;317;317	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	N	317	ENSP00000371434:S317N;ENSP00000351574:S317N;ENSP00000303847:S317N	ENSP00000303847:S317N	S	-	2	0	RFX3	3267363	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.623000	0.67757	2.621000	0.88768	0.460000	0.39030	AGC		0.403	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1		NM_002919		32	67	0	0	0	0.013726	0	32	67		
CNTRL	11064	broad.mit.edu	37	9	123921142	123921142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:123921142C>T	ENST00000373855.1	+	31	5034	c.4774C>T	c.(4774-4776)Cag>Tag	p.Q1592*	CNTRL_ENST00000238341.5_Nonsense_Mutation_p.Q1592*|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.Q1040*|CNTRL_ENST00000373844.1_Nonsense_Mutation_p.Q37*			Q7Z7A1	CNTRL_HUMAN	centriolin	1592					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGTGACAAGTCAGCAGCAGGA	0.463																																						uc004bkx.1		NaN																	0					0						c.(4774-4776)CAG>TAG		centrosomal protein 110kDa							127.0	130.0	129.0					9																	123921142		2203	4300	6503	SO:0001587	stop_gained	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123921142C>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4774C>T	9.37:g.123921142C>T	ENSP00000362962:p.Gln1592*					CEP110_uc010mvo.1_Nonsense_Mutation_p.Q261*|CEP110_uc004blb.1_Nonsense_Mutation_p.Q261*|CEP110_uc010mvp.1_Intron	p.Q1592*	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			29	4805	+			1592			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Nonsense_Mutation	SNP	ENST00000373855.1	37	c.4774C>T	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	41	9.044060	0.99046	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000431571;ENST00000373845;ENST00000373844	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	19.0647	0.93106	0.0:1.0:0.0:0.0	.	.	.	.	X	1592;1592;1592;348;1040;261;274;37	.	ENSP00000238341:Q1592X	Q	+	1	0	CNTRL	122960963	0.999000	0.42202	0.974000	0.42286	0.958000	0.62258	4.150000	0.58098	2.820000	0.97059	0.650000	0.86243	CAG		0.463	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1		NM_007018		70	13	0	0	0	0.01441	0	70	13		
ARPC5L	81873	broad.mit.edu	37	9	127637310	127637310	+	Silent	SNP	T	T	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:127637310T>C	ENST00000353214.2	+	5	1531	c.279T>C	c.(277-279)atT>atC	p.I93I	ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Silent_p.I93I			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	93					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						GCAGTGAGATTGAGCAGGCTG	0.502																																						uc004bpa.3		NaN																	0					0						c.(277-279)ATT>ATC		actin related protein 2/3 complex, subunit							117.0	107.0	111.0					9																	127637310		2203	4300	6503	SO:0001819	synonymous_variant	81873				regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr9:127637310T>C	AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"""Actin related protein 2/3 complex subunits"""	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.279T>C	9.37:g.127637310T>C						ARPC5L_uc011lzq.1_Silent_p.I41I	p.I93I	NM_030978	NP_112240	Q9BPX5	ARP5L_HUMAN			3	365	+			93					Q7Z523	Silent	SNP	ENST00000353214.2	37	c.279T>C	CCDS6859.1																																																																																				0.502	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1		NM_030978		5	90	0	0	0	0.00308	0	5	90		
TTC16	158248	broad.mit.edu	37	9	130485503	130485503	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:130485503C>T	ENST00000373289.3	+	7	843	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_3'UTR|TTC16_ENST00000393748.4_Missense_Mutation_p.R79C|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	255										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CCAGCAGGCGCGCCAAGATGC	0.642																																						uc004brq.1		NaN																	0					0						c.(763-765)CGC>TGC		tetratricopeptide repeat domain 16							59.0	56.0	57.0					9																	130485503		2203	4299	6502	SO:0001583	missense	158248						binding	g.chr9:130485503C>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.763C>T	9.37:g.130485503C>T	ENSP00000362386:p.Arg255Cys					PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.R242C|TTC16_uc004brr.1_Missense_Mutation_p.R200C|TTC16_uc010mxn.1_5'UTR	p.R255C	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			7	830	+			255			TPR 4.		B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.763C>T	CCDS6875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.54|11.54	1.669044|1.669044	0.29604|0.29604	.|.	.|.	ENSG00000167094|ENSG00000167094	ENST00000373288|ENST00000373289;ENST00000393748;ENST00000316259	.|T;T	.|0.61392	.|2.36;0.11	4.99|4.99	3.06|3.06	0.35304|0.35304	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.593821	.|0.16618	.|N	.|0.206606	T|T	0.68044|0.68044	0.2958|0.2958	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|P;D;P	.|0.66847	.|0.902;0.947;0.902	T|T	0.56214|0.56214	-0.8016|-0.8016	6|10	0.87932|0.87932	D|D	0|0	-12.6695|-12.6695	6.2784|6.2784	0.20993|0.20993	0.1812:0.7236:0.0:0.0952|0.1812:0.7236:0.0:0.0952	.|.	.|242;207;255	.|B4DZ42;B4DH05;Q8NEE8	.|.;.;TTC16_HUMAN	V|C	80|255;79;200	.|ENSP00000362386:R255C;ENSP00000377349:R79C	ENSP00000362385:A80V|ENSP00000319048:R200C	A|R	+|+	2|1	0|0	TTC16|TTC16	129525324|129525324	0.000000|0.000000	0.05858|0.05858	0.026000|0.026000	0.17262|0.17262	0.178000|0.178000	0.23041|0.23041	-0.222000|-0.222000	0.09190|0.09190	1.352000|1.352000	0.45808|0.45808	0.456000|0.456000	0.33151|0.33151	GCG|CGC		0.642	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1		NM_144965		45	6	0	0	0	0.013114	0	45	6		
LRRC8A	56262	broad.mit.edu	37	9	131669702	131669702	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:131669702C>T	ENST00000259324.5	+	3	782	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	LRRC8A_ENST00000372599.3_Silent_p.L87L|LRRC8A_ENST00000372600.4_Silent_p.L87L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	87					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTCCACCATTCTGCCGACCCC	0.617																																						uc004bwl.3		NaN																	0					0						c.(259-261)CTG>TTG		leucine rich repeat containing 8 family, member							57.0	61.0	60.0					9																	131669702		2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131669702C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.259C>T	9.37:g.131669702C>T						LRRC8A_uc010myp.2_Silent_p.L87L|LRRC8A_uc010myq.2_Silent_p.L87L	p.L87L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	513	+			87					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.259C>T	CCDS35155.1																																																																																				0.617	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2		NM_019594		59	10	0	0	0	0.01441	0	59	10		
LRRC8A	56262	broad.mit.edu	37	9	131670421	131670421	+	Silent	SNP	C	C	T	rs373351369		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:131670421C>T	ENST00000259324.5	+	3	1501	c.978C>T	c.(976-978)atC>atT	p.I326I	LRRC8A_ENST00000372599.3_Silent_p.I326I|LRRC8A_ENST00000372600.4_Silent_p.I326I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	326					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCTTCTACATCAGCCTAGTCA	0.567																																						uc004bwl.3		NaN																	0					0						c.(976-978)ATC>ATT		leucine rich repeat containing 8 family, member		C	,,	0,4406		0,0,2203	234.0	169.0	191.0		978,978,978	3.1	1.0	9		191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LRRC8A	NM_001127244.1,NM_001127245.1,NM_019594.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	326/811,326/811,326/811	131670421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670421C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.978C>T	9.37:g.131670421C>T						LRRC8A_uc010myp.2_Silent_p.I326I|LRRC8A_uc010myq.2_Silent_p.I326I	p.I326I	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	1232	+			326			Helical; (Potential).		Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.978C>T	CCDS35155.1																																																																																				0.567	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2		NM_019594		71	11	0	0	0	0.01441	0	71	11		
LRRC8A	56262	broad.mit.edu	37	9	131671081	131671081	+	Silent	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:131671081C>G	ENST00000259324.5	+	3	2161	c.1638C>G	c.(1636-1638)ctC>ctG	p.L546L	LRRC8A_ENST00000372599.3_Silent_p.L546L|LRRC8A_ENST00000372600.4_Silent_p.L546L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	546					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAAACGCCTCAAGGTGCTGC	0.592																																						uc004bwl.3		NaN																	0					0						c.(1636-1638)CTC>CTG		leucine rich repeat containing 8 family, member							57.0	50.0	52.0					9																	131671081		2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131671081C>G	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1638C>G	9.37:g.131671081C>G						LRRC8A_uc010myp.2_Silent_p.L546L|LRRC8A_uc010myq.2_Silent_p.L546L	p.L546L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	1892	+			546			LRR 8.		Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.1638C>G	CCDS35155.1																																																																																				0.592	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2		NM_019594		28	4	0	0	0	0.007291	0	28	4		
USP20	10868	broad.mit.edu	37	9	132620365	132620365	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:132620365G>A	ENST00000315480.4	+	5	330	c.172G>A	c.(172-174)Gct>Act	p.A58T	USP20_ENST00000358355.1_Missense_Mutation_p.A58T|USP20_ENST00000372429.3_Missense_Mutation_p.A58T			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	58					endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AGAATCCTTTGCTGACCACAG	0.562																																						uc004bys.2		NaN																	0				lung(1)|breast(1)	2						c.(172-174)GCT>ACT		ubiquitin specific protease 20							147.0	149.0	148.0					9																	132620365		2085	4208	6293	SO:0001583	missense	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132620365G>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.172G>A	9.37:g.132620365G>A	ENSP00000313811:p.Ala58Thr					USP20_uc004byr.2_Missense_Mutation_p.A58T|USP20_uc004byt.1_Missense_Mutation_p.A58T	p.A58T	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN			5	383	+		Ovarian(14;0.00556)	58			UBP-type.		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.172G>A	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532103	0.27387	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.42131	0.98;0.98;0.98	5.13	4.22	0.49857	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.215692	0.49305	D	0.000160	T	0.43055	0.1230	M	0.61703	1.905	0.36718	D	0.881031	B	0.34103	0.437	B	0.37731	0.257	T	0.47341	-0.9125	10	0.23302	T	0.38	.	14.036	0.64644	0.0:0.0:0.8478:0.1522	.	58	Q9Y2K6	UBP20_HUMAN	T	58	ENSP00000361506:A58T;ENSP00000313811:A58T;ENSP00000351122:A58T	ENSP00000313811:A58T	A	+	1	0	USP20	131660186	1.000000	0.71417	0.992000	0.48379	0.313000	0.28021	4.133000	0.57983	1.125000	0.41998	-0.314000	0.08810	GCT		0.562	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2				37	51	0	0	0	0.010771	0	37	51		
CXCR3	2833	broad.mit.edu	37	X	70836460	70836460	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chrX:70836460G>A	ENST00000373693.3	-	2	929	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	CXCR3_ENST00000373691.4_Missense_Mutation_p.R335C	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	288					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCACAGTTGCGGGCCAAAGCG	0.632																																						uc004eaf.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(862-864)CGC>TGC		chemokine (C-X-C motif) receptor 3 isoform A							63.0	48.0	53.0					X																	70836460		2203	4300	6503	SO:0001583	missense	2833				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	g.chrX:70836460G>A	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.862C>T	X.37:g.70836460G>A	ENSP00000362797:p.Arg288Cys					BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Missense_Mutation_p.R335C	p.R288C	NM_001504	NP_001495	P49682	CXCR3_HUMAN			2	930	-	Renal(35;0.156)		288			Extracellular (Potential).		B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	ENST00000373693.3	37	c.862C>T	CCDS14416.1	.	.	.	.	.	.	.	.	.	.	G	8.442	0.850997	0.17034	.	.	ENSG00000186810	ENST00000373691;ENST00000373693	T;T	0.70986	-0.53;-0.53	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	1.859650	0.03259	N	0.182999	D	0.83234	0.5210	M	0.64080	1.96	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.94;0.964	T	0.64050	-0.6498	10	0.66056	D	0.02	.	10.4219	0.44354	0.0:0.1925:0.8075:0.0	.	335;288	P49682-2;P49682	.;CXCR3_HUMAN	C	335;288	ENSP00000362795:R335C;ENSP00000362797:R288C	ENSP00000362795:R335C	R	-	1	0	CXCR3	70753185	0.000000	0.05858	0.205000	0.23548	0.004000	0.04260	0.463000	0.21972	2.329000	0.79093	0.422000	0.28245	CGC		0.632	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1				16	16	0	0	0	0.006122	0	16	16		
STAG2	10735	broad.mit.edu	37	X	123217380	123217380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chrX:123217380C>T	ENST00000371160.1	+	29	3324	c.3034C>T	c.(3034-3036)Cga>Tga	p.R1012*	STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1012*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1012*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1012*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R943*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1012*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1012					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R1012*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAAACTACTTCGACAAGACAA	0.343																																						uc004etz.3		NaN																	1	Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(4)|skin(1)	5						c.(3034-3036)CGA>TGA		stromal antigen 2 isoform b							84.0	81.0	82.0					X																	123217380		2203	4299	6502	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123217380C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3034C>T	X.37:g.123217380C>T	ENSP00000360202:p.Arg1012*					STAG2_uc004eua.2_Nonsense_Mutation_p.R1012*|STAG2_uc004eub.2_Nonsense_Mutation_p.R1012*|STAG2_uc004euc.2_Nonsense_Mutation_p.R1012*|STAG2_uc004eud.2_Nonsense_Mutation_p.R1012*|STAG2_uc004eue.2_Nonsense_Mutation_p.R1012*	p.R1012*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			28	3373	+			1012					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.3034C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	43	10.272610	0.99372	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	4.55	4.55	0.56014	.	0.060166	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2888	10.5009	0.44804	0.3606:0.6394:0.0:0.0	.	.	.	.	X	1012;943;1012;1012;1012;1012	.	ENSP00000218089:R1012X	R	+	1	2	STAG2	123045061	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.124000	0.42006	2.007000	0.58848	0.506000	0.49869	CGA		0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		34	0	0	0	0	0.01441	0	34	0		
GPC3	2719	broad.mit.edu	37	X	132670204	132670204	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chrX:132670204A>C	ENST00000370818.3	-	8	2136	c.1691T>G	c.(1690-1692)cTt>cGt	p.L564R	GPC3_ENST00000543339.1_Missense_Mutation_p.L510R|GPC3_ENST00000394299.2_Missense_Mutation_p.L587R	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	564					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GCTGGTGAGAAGCTTCAGCGG	0.562			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1		NaN	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			0				lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(1690-1692)CTT>CGT		glypican 3 isoform 2 precursor							244.0	188.0	207.0					X																	132670204		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132670204A>C	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1691T>G	X.37:g.132670204A>C	ENSP00000359854:p.Leu564Arg					GPC3_uc004exd.1_Missense_Mutation_p.L436R|GPC3_uc010nrn.1_Missense_Mutation_p.L587R|GPC3_uc011mvh.1_Missense_Mutation_p.L548R|GPC3_uc010nro.1_Missense_Mutation_p.L510R	p.L564R	NM_004484	NP_004475	P51654	GPC3_HUMAN			8	1881	-	Acute lymphoblastic leukemia(192;0.000127)		564					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.1691T>G	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	A	6.026	0.373214	0.11409	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.54279	0.58;0.58;0.58	4.85	2.25	0.28309	.	1.075970	0.07097	N	0.839787	T	0.32912	0.0845	N	0.08118	0	0.09310	N	1	B;B;B;B	0.27380	0.153;0.126;0.177;0.153	B;B;B;B	0.33454	0.115;0.07;0.068;0.164	T	0.35773	-0.9775	10	0.52906	T	0.07	.	3.173	0.06559	0.6773:0.0:0.1144:0.2082	.	548;510;587;564	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	R	564;587;510	ENSP00000359854:L564R;ENSP00000377836:L587R;ENSP00000444222:L510R	ENSP00000359854:L564R	L	-	2	0	GPC3	132497870	0.001000	0.12720	0.001000	0.08648	0.112000	0.19704	0.756000	0.26419	0.531000	0.28639	0.481000	0.45027	CTT		0.562	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1		NM_004484		57	3	0	0	0	0.01441	0	57	3		
TBL1Y	90665	broad.mit.edu	37	Y	6911149	6911149	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chrY:6911149G>C	ENST00000383032.1	+	7	834	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	TBL1Y_ENST00000346432.3_Missense_Mutation_p.E63Q|TBL1Y_ENST00000355162.2_Missense_Mutation_p.E63Q	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	63	F-box-like.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TGTAGAGGCTGAGATAAGCAT	0.527																																						uc004frb.2		NaN																	0					0						c.(187-189)GAG>CAG		transducin beta-like 1Y							61.0	57.0	58.0					Y																	6911149		617	1966	2583	SO:0001583	missense	90665				transcription, DNA-dependent			g.chrY:6911149G>C	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.187G>C	Y.37:g.6911149G>C	ENSP00000372499:p.Glu63Gln					TBL1Y_uc004frc.2_Missense_Mutation_p.E63Q|TBL1Y_uc004frd.2_Missense_Mutation_p.E63Q|TBL1Y_uc011nap.1_5'UTR	p.E63Q	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN			7	834	+			63			F-box-like.		A1L4B3	Missense_Mutation	SNP	ENST00000383032.1	37	c.187G>C	CCDS14779.1																																																																																				0.527	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1		NM_033284		10	62	0	0	0	0.010729	0	10	62		
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)agcfs	p.S277fs	SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433																																						uc001fwl.3		NaN																	0				ovary(1)|breast(1)	2						c.(829-831)AGCfs		signaling lymphocytic activation molecule family							265.0	264.0	264.0					1																	160589601		2203	4300	6503	SO:0001589	frameshift_variant	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160589601delT	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.829delA	1.37:g.160589601delT	ENSP00000306190:p.Ser277fs					SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	p.S277fs	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		5	1175	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		277			Cytoplasmic (Potential).|Ig-like V-type.		Q5W172|Q9HBE8	Frame_Shift_Del	DEL	ENST00000302035.6	37	c.829delA	CCDS1207.1																																																																																				0.433	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1				8	178	NaN	NaN	NaN	NaN	NaN	8	178	---	---
SPAG6	9576	broad.mit.edu	37	10	22690092	22690093	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr10:22690092_22690093insA	ENST00000376624.3	+	9	1342_1343	c.1200_1201insA	c.(1201-1203)aaafs	p.K401fs	SPAG6_ENST00000376603.2_Frame_Shift_Ins_p.K477fs|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000538630.1_Frame_Shift_Ins_p.K376fs|SPAG6_ENST00000313311.6_Frame_Shift_Ins_p.K401fs|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Frame_Shift_Ins_p.K162fs	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	401					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						ATTTCTAGAGTAAAAAAGCCAT	0.327																																						uc001iri.2		NaN																	0				breast(1)	1						c.(1198-1203)AGTAAAfs		sperm associated antigen 6 isoform 1																																				SO:0001589	frameshift_variant	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22690092_22690093insA	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1206dupA	10.37:g.22690098_22690098dupA	ENSP00000365811:p.Lys401fs					SPAG6_uc001irj.2_Frame_Shift_Ins_p.S400fs|SPAG6_uc010qct.1_Frame_Shift_Ins_p.S370fs|SPAG6_uc009xkh.2_Frame_Shift_Ins_p.S378fs	p.S400fs	NM_012443	NP_036575	O75602	SPAG6_HUMAN			9	1342_1343	+			400_401			ARM 8.		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Frame_Shift_Ins	INS	ENST00000376624.3	37	c.1200_1201insA	CCDS7139.1																																																																																				0.327	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1				16	49	NaN	NaN	NaN	NaN	NaN	16	49	---	---
FBXW4	6468	broad.mit.edu	37	10	103454358	103454360	+	In_Frame_Del	DEL	CCT	CCT	-	rs575669609		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr10:103454358_103454360delCCT	ENST00000331272.7	-	1	656_658	c.38_40delAGG	c.(37-42)gaggcg>gcg	p.E13del		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	13					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TCCCGAGCCGcctcctcctcctc	0.754																																						uc001kto.2		NaN																	0				skin(1)	1						c.(37-42)GAGGCG>GCG		F-box and WD repeat domain containing 4				56,23,1443		15,1,25,7,8,705						0.5	0.1			2	125,1,3398		27,0,71,0,1,1663	no	codingComplex	FBXW4	NM_022039.3		42,1,96,7,9,2368	A1A1,A1A2,A1R,A2A2,A2R,RR		3.5755,5.1905,4.0626				181,24,4841				SO:0001651	inframe_deletion	6468				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		g.chr10:103454358_103454360delCCT	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.38_40delAGG	10.37:g.103454367_103454369delCCT	ENSP00000359149:p.Glu13del						p.E13del	NM_022039	NP_071322	P57775	FBXW4_HUMAN		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	1	384_386	-		Colorectal(252;0.123)	13					Q5SVS1|Q96IM6	In_Frame_Del	DEL	ENST00000331272.7	37	c.38_40delAGG	CCDS31271.1																																																																																				0.754	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2		NM_022039		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
MARK2	2011	broad.mit.edu	37	11	63668273	63668276	+	Frame_Shift_Del	DEL	ATGA	ATGA	-			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:63668273_63668276delATGA	ENST00000509502.2	+	10	1274_1277	c.811_814delATGA	c.(811-816)atgaatfs	p.MN271fs	MARK2_ENST00000377810.3_Frame_Shift_Del_p.MN271fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000508192.1_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000402010.2_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000502399.3_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000425897.2_Frame_Shift_Del_p.MN271fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000513765.2_Frame_Shift_Del_p.MN271fs|MARK2_ENST00000377809.4_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000408948.3_Frame_Shift_Del_p.MN271fs	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGATCGATGGATGAATGTGGGTCA	0.564																																						uc001nxw.2		NaN																	0				stomach(1)|ovary(1)|lung(1)	3						c.(910-915)ATGAATfs		MAP/microtubule affinity-regulating kinase 2																																				SO:0001589	frameshift_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63668273_63668276delATGA	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.811_814delATGA	11.37:g.63668273_63668276delATGA	ENSP00000423974:p.Met271fs					MARK2_uc001nxx.2_Frame_Shift_Del_p.M304fs|MARK2_uc001nxy.2_Frame_Shift_Del_p.M304fs|MARK2_uc001nxv.3_Frame_Shift_Del_p.M304fs|MARK2_uc001nxz.3_Frame_Shift_Del_p.M271fs|MARK2_uc009yoy.2_Frame_Shift_Del_p.M271fs	p.M304fs	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			10	1489_1492	+			304_305						Frame_Shift_Del	DEL	ENST00000509502.2	37	c.910_913delATGA	CCDS41665.1																																																																																				0.564	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2		NM_017490		95	144	NaN	NaN	NaN	NaN	NaN	95	144	---	---
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr13:108518687_108518689delCTG	ENST00000375915.2	-	1	394_396	c.256_258delCAG	c.(256-258)cagdel	p.Q86del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719																																						uc001vql.2		NaN																	0				skin(1)	1						c.(256-258)CAGdel		family with sequence similarity 155, member A																																				SO:0001651	inframe_deletion	728215					integral to membrane	binding	g.chr13:108518687_108518689delCTG	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.256_258delCAG	13.37:g.108518696_108518698delCTG	ENSP00000365080:p.Gln86del						p.Q86del	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	772_774	-			86			Poly-Gln.		B2RUV1|B7Z334	In_Frame_Del	DEL	ENST00000375915.2	37	c.256_258delCAG	CCDS32006.1																																																																																				0.719	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2		NM_001080396		7	31	NaN	NaN	NaN	NaN	NaN	7	31	---	---
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(643-645)aggfs	p.R215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.R76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653																																						uc003emu.2		NaN																	0				skin(1)	1						c.(640-645)GCTAGGfs		H1 histone family, member O, oocyte-specific																																				SO:0001589	frameshift_variant	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129268107_129268108insA	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.643dupA	3.37:g.129268108_129268108dupA	ENSP00000319799:p.Arg215fs					H1FOO_uc003emv.2_Frame_Shift_Ins_p.A75fs	p.A214fs	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN			3	647_648	+			214_215					Q86WT7	Frame_Shift_Ins	INS	ENST00000324382.2	37	c.642_643insA	CCDS3064.1																																																																																				0.653	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3		NM_153833		3	6	NaN	NaN	NaN	NaN	NaN	3	6	---	---
PILRB	29990	broad.mit.edu	37	7	99956513	99956514	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:99956513_99956514insT	ENST00000452089.1	+	7	1324_1325	c.265_266insT	c.(265-267)attfs	p.I89fs	PILRB_ENST00000448382.1_Intron|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000610247.1_Frame_Shift_Ins_p.I89fs|PILRB_ENST00000609309.1_Frame_Shift_Ins_p.I89fs|PILRB_ENST00000444073.1_Frame_Shift_Ins_p.I89fs			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	89	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCGCCTTCCATTCACAAGGAT	0.55																																						uc003uuk.2		NaN																	0					0						c.(265-267)ATTfs		paired immunoglobulin-like type 2 receptor beta																																				SO:0001589	frameshift_variant	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99956513_99956514insT	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.267dupT	7.37:g.99956515_99956515dupT	ENSP00000391748:p.Ile89fs					PILRB_uc003uul.2_Intron|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Frame_Shift_Ins_p.I89fs	p.I89fs	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN			16	2761_2762	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		89			Extracellular (Potential).|Ig-like V-type.		Q69YF9|Q9HBS0	Frame_Shift_Ins	INS	ENST00000452089.1	37	c.265_266insT	CCDS43622.1																																																																																				0.550	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2		NM_178238		53	105	NaN	NaN	NaN	NaN	NaN	53	105	---	---
