#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SCMH1	22955	broad.mit.edu	37	1	41514424	41514424	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:41514424G>A	ENST00000326197.7	-	10	1513	c.1214C>T	c.(1213-1215)gCt>gTt	p.A405V	SCMH1_ENST00000372595.1_Missense_Mutation_p.A344V|SCMH1_ENST00000361705.3_Missense_Mutation_p.A358V|SCMH1_ENST00000397174.2_Missense_Mutation_p.A385V|SCMH1_ENST00000402904.2_Missense_Mutation_p.A405V|SCMH1_ENST00000372597.1_Missense_Mutation_p.A358V|SCMH1_ENST00000372596.1_Missense_Mutation_p.A344V|SCMH1_ENST00000456518.2_Missense_Mutation_p.A247V|SCMH1_ENST00000397171.2_Missense_Mutation_p.A344V|SCMH1_ENST00000361191.5_Missense_Mutation_p.A344V|SCMH1_ENST00000337495.5_Missense_Mutation_p.A415V					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CTGGTGATAAGCACAGTCGAT	0.522																																						uc001cgo.2		NA																	0					0						c.(1213-1215)GCT>GTT		sex comb on midleg 1 isoform 1							213.0	186.0	195.0					1																	41514424		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41514424G>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1214C>T	1.37:g.41514424G>A	ENSP00000318094:p.Ala405Val					SCMH1_uc010ojr.1_Missense_Mutation_p.A247V|SCMH1_uc001cgp.2_Missense_Mutation_p.A344V|SCMH1_uc001cgr.2_Missense_Mutation_p.A344V|SCMH1_uc001cgs.2_Missense_Mutation_p.A415V|SCMH1_uc001cgt.2_Missense_Mutation_p.A344V|SCMH1_uc001cgq.2_Missense_Mutation_p.A358V|SCMH1_uc010ojs.1_RNA	p.A405V	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN			11	1525	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	405						Missense_Mutation	SNP	ENST00000326197.7	37	c.1214C>T	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768354	0.90020	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	6.07	6.07	0.98685	.	0.067529	0.64402	D	0.000015	T	0.70710	0.3255	M	0.70595	2.14	0.80722	D	1	D;D;P;P	0.67145	0.996;0.986;0.86;0.954	D;P;B;P	0.63381	0.914;0.73;0.269;0.904	T	0.66618	-0.5878	10	0.37606	T	0.19	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	247;415;358;405	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	V	358;247;405;385;344;344;358;344;415;344;405	ENSP00000354996:A358V;ENSP00000403974:A247V;ENSP00000386079:A405V;ENSP00000380359:A385V;ENSP00000380356:A344V;ENSP00000354656:A344V;ENSP00000361678:A358V;ENSP00000361677:A344V;ENSP00000337352:A415V;ENSP00000361676:A344V;ENSP00000318094:A405V	ENSP00000318094:A405V	A	-	2	0	SCMH1	41287011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.367000	0.97148	2.885000	0.99019	0.655000	0.94253	GCT		0.522	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			29	60	0	0	0	0	29	60				
DOCK7	85440	broad.mit.edu	37	1	62921091	62921091	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:62921091A>G	ENST00000340370.5	-	49	6341	c.6324T>C	c.(6322-6324)gaT>gaC	p.D2108D	DOCK7_ENST00000251157.5_Silent_p.D2128D	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2139	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAGTTTAGAGATCCATTTTGC	0.348																																						uc001daq.2		NA																	0				ovary(2)	2						c.(6382-6384)GAT>GAC		dedicator of cytokinesis 7							81.0	75.0	77.0					1																	62921091		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62921091A>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.6324T>C	1.37:g.62921091A>G						DOCK7_uc001dan.2_Silent_p.D1991D|DOCK7_uc001dao.2_Silent_p.D1989D|DOCK7_uc001dap.2_Silent_p.D2108D|DOCK7_uc001dam.2_Silent_p.D1310D	p.D2128D	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			49	6418	-			2139					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.6384T>C	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	8.599	0.886453	0.17540	.	.	ENSG00000116641	ENST00000454575;ENST00000395441	.	.	.	5.34	-2.61	0.06171	.	.	.	.	.	T	0.52191	0.1719	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55108	-0.8192	5	0.72032	D	0.01	.	2.0307	0.03529	0.2912:0.1115:0.378:0.2193	.	.	.	.	P	1302;872	.	ENSP00000378828:S872P	S	-	1	0	DOCK7	62693679	0.995000	0.38212	0.992000	0.48379	0.968000	0.65278	0.350000	0.20079	-0.347000	0.08299	0.533000	0.62120	TCT		0.348	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		12	28	0	0	0	0	12	28				
SPAG17	200162	broad.mit.edu	37	1	118584559	118584559	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:118584559T>C	ENST00000336338.5	-	21	2986	c.2921A>G	c.(2920-2922)aAc>aGc	p.N974S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	974						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCTCTGCGTTATCCTTGCC	0.393																																						uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(2920-2922)AAC>AGC		sperm associated antigen 17							374.0	372.0	373.0					1																	118584559		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118584559T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2921A>G	1.37:g.118584559T>C	ENSP00000337804:p.Asn974Ser						p.N974S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	21	2989	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	974					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2921A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	3.411	-0.120237	0.06838	.	.	ENSG00000155761	ENST00000336338	T	0.29142	1.58	5.36	1.34	0.21922	.	0.691120	0.13558	N	0.379021	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.43491	-0.9388	10	0.17832	T	0.49	.	3.0515	0.06171	0.1282:0.0763:0.2643:0.5311	.	974	Q6Q759	SPG17_HUMAN	S	974	ENSP00000337804:N974S	ENSP00000337804:N974S	N	-	2	0	SPAG17	118386082	0.104000	0.21937	0.006000	0.13384	0.076000	0.17211	0.857000	0.27831	0.384000	0.24942	0.528000	0.53228	AAC		0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		79	192	0	0	0	0	79	192				
TAGLN2	8407	broad.mit.edu	37	1	159890213	159890213	+	Silent	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:159890213G>A	ENST00000368097.4	-	2	397	c.87C>T	c.(85-87)atC>atT	p.I29I	TAGLN2_ENST00000368096.1_Silent_p.I50I|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Silent_p.I29I	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	29	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGATCAGGATCTGCTCCA	0.582																																						uc001fum.1		NA																	0					0						c.(85-87)ATC>ATT		transgelin 2							54.0	50.0	52.0					1																	159890213		2203	4300	6503	SO:0001819	synonymous_variant	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159890213G>A	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.87C>T	1.37:g.159890213G>A						CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Silent_p.I29I|TAGLN2_uc001fuo.1_Silent_p.I29I|TAGLN2_uc010piy.1_Silent_p.I29I	p.I29I	NM_003564	NP_003555	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	137	-	all_hematologic(112;0.0597)		29			CH.		E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Silent	SNP	ENST00000368097.4	37	c.87C>T	CCDS1189.1																																																																																				0.582	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564		11	46	0	0	0	0	11	46				
PRRC2C	23215	broad.mit.edu	37	1	171509694	171509694	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:171509694G>T	ENST00000338920.4	+	16	3320	c.3083G>T	c.(3082-3084)cGg>cTg	p.R1028L	PRRC2C_ENST00000367742.3_Missense_Mutation_p.R1030L|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R1028L|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R1030L	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1028					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AAAGAGGAACGGGAACAGAGG	0.433																																						uc010pmg.1		NA																	0					0						c.(3082-3084)CGG>CTG		HBxAg transactivated protein 2							61.0	58.0	59.0					1																	171509694		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171509694G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3083G>T	1.37:g.171509694G>T	ENSP00000343629:p.Arg1028Leu					BAT2L2_uc010pmh.1_Missense_Mutation_p.R5L	p.R1028L	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	3349	+			1028			Potential.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.3083G>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315846	0.40996	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02197	4.4;4.41;4.41;4.41	5.98	5.98	0.97165	.	0.000000	0.40908	D	0.000987	T	0.04815	0.0130	L	0.36672	1.1	0.58432	D	0.999999	D	0.69078	0.997	P	0.62089	0.898	T	0.50524	-0.8818	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1028	Q9Y520-4	.	L	1030;1029;1028;1030;1028;785	ENSP00000375928:R1030L;ENSP00000410219:R1028L;ENSP00000356716:R1030L;ENSP00000343629:R1028L	ENSP00000343629:R1028L	R	+	2	0	PRRC2C	169776318	1.000000	0.71417	0.991000	0.47740	0.903000	0.53119	9.434000	0.97515	2.835000	0.97688	0.650000	0.86243	CGG		0.433	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		11	27	1	0	4.69e-08	5.48e-08	11	27				
BRINP3	339479	broad.mit.edu	37	1	190067946	190067946	+	Silent	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:190067946C>T	ENST00000367462.3	-	8	1734	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	BRINP3_ENST00000534846.1_Silent_p.L399L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	501					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CCGTTTTCTGCAGCAGATATT	0.502																																						uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1501-1503)CTG>CTA		family with sequence similarity 5, member C							158.0	155.0	156.0					1																	190067946		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067946C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1503G>A	1.37:g.190067946C>T						FAM5C_uc010pot.1_Silent_p.L399L	p.L501L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1735	-	Prostate(682;0.198)		501					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1503G>A	CCDS1373.1																																																																																				0.502	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		27	96	0	0	0	0	27	96				
BRINP3	339479	broad.mit.edu	37	1	190067951	190067951	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:190067951G>T	ENST00000367462.3	-	8	1729	c.1498C>A	c.(1498-1500)Ctg>Atg	p.L500M	BRINP3_ENST00000534846.1_Missense_Mutation_p.L398M	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	500					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TTCTGCAGCAGATATTTCATC	0.493																																						uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1498-1500)CTG>ATG		family with sequence similarity 5, member C							160.0	157.0	158.0					1																	190067951		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067951G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1498C>A	1.37:g.190067951G>T	ENSP00000356432:p.Leu500Met					FAM5C_uc010pot.1_Missense_Mutation_p.L398M	p.L500M	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1730	-	Prostate(682;0.198)		500					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1498C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837770	0.50951	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.57595	0.39;0.39	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	T	0.70168	0.3193	M	0.74881	2.28	0.51233	D	0.999918	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.99	T	0.72481	-0.4280	10	0.66056	D	0.02	.	10.8116	0.46551	0.0853:0.0:0.9147:0.0	.	398;500	B7Z260;Q76B58	.;FAM5C_HUMAN	M	500;398	ENSP00000356432:L500M;ENSP00000438022:L398M	ENSP00000356432:L500M	L	-	1	2	FAM5C	188334574	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.878000	0.56130	2.712000	0.92718	0.591000	0.81541	CTG		0.493	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		27	102	1	0	7.42e-09	8.79e-09	27	102				
OR2T3	343173	broad.mit.edu	37	1	248637082	248637083	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:248637082_248637083GG>TT	ENST00000359594.2	+	1	456_457	c.431_432GG>TT	c.(430-432)aGG>aTT	p.R144I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAACCAGAGGGTGTGCCAGC	0.55																																						uc001iel.1		NA																	0				skin(1)	1						c.(430-432)AGG>ATT		olfactory receptor, family 2, subfamily T,																																				SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637082_248637083GG>TT		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	Exception_encountered	1.37:g.248637082_248637083delinsTT	ENSP00000352604:p.Arg144Ile						p.R144I	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	431_432	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		144			Cytoplasmic (Potential).		B2RNJ1	Missense_Mutation	DNP	ENST00000359594.2	37	c.431_432GG>TT	CCDS31117.1																																																																																				0.550	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		6	26	0	0	0	0	6	26				
SAMD8	142891	broad.mit.edu	37	10	76910800	76910800	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:76910800A>G	ENST00000542569.1	+	2	617	c.514A>G	c.(514-516)Ata>Gta	p.I172V	SAMD8_ENST00000372690.3_Missense_Mutation_p.I235V|SAMD8_ENST00000372687.4_Missense_Mutation_p.I172V	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	172					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CATTATGGTTATAGTCCATGA	0.368																																						uc001jwx.1		NA																	0					0						c.(514-516)ATA>GTA		sterile alpha motif domain containing 8							59.0	57.0	57.0					10																	76910800		2203	4300	6503	SO:0001583	missense	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76910800A>G	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.514A>G	10.37:g.76910800A>G	ENSP00000438042:p.Ile172Val					SAMD8_uc001jwy.1_Missense_Mutation_p.I172V	p.I172V	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN			2	617	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		172			Helical; (Potential).		Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	c.514A>G	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378806	0.42207	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	L	0.28192	0.835	0.52501	D	0.999952	P;B	0.38597	0.639;0.044	B;B	0.36959	0.237;0.049	T	0.12993	-1.0526	10	0.13108	T	0.6	-24.7397	15.9627	0.79941	1.0:0.0:0.0:0.0	.	172;172	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	V	172;235;172;172	ENSP00000391799:I172V;ENSP00000361775:I235V;ENSP00000438042:I172V;ENSP00000361772:I172V	ENSP00000361772:I172V	I	+	1	0	SAMD8	76580806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.125000	0.64715	2.179000	0.69175	0.402000	0.26972	ATA		0.368	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		3	31	0	0	0	0	3	31				
RAB11FIP2	22841	broad.mit.edu	37	10	119798612	119798612	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:119798612C>T	ENST00000355624.3	-	3	1575	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.G379E	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	379					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GCTATCAGATCCCCCATTGTT	0.353																																						uc001ldj.1		NA																	0					0						c.(1135-1137)GGA>GAA		RAB11 family interacting protein 2							179.0	194.0	189.0					10																	119798612		2203	4300	6503	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798612C>T	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1136G>A	10.37:g.119798612C>T	ENSP00000347839:p.Gly379Glu					RAB11FIP2_uc009xyz.1_Missense_Mutation_p.G379E	p.G379E	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	3	1576	-		Colorectal(252;0.235)	379					A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.1136G>A	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	C	9.075	0.997915	0.19043	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.63580	-0.05;-0.05	5.76	3.86	0.44501	.	0.196474	0.53938	D	0.000047	T	0.50326	0.1609	L	0.44542	1.39	0.50467	D	0.999877	B;P	0.41366	0.376;0.747	B;B	0.36719	0.231;0.224	T	0.43988	-0.9357	10	0.33141	T	0.24	-3.0895	11.3956	0.49841	0.136:0.7133:0.1507:0.0	.	379;379	Q3I768;Q7L804	.;RFIP2_HUMAN	E	379	ENSP00000347839:G379E;ENSP00000358200:G379E	ENSP00000347839:G379E	G	-	2	0	RAB11FIP2	119788602	0.983000	0.35010	0.703000	0.30354	0.978000	0.69477	1.266000	0.33039	0.823000	0.34589	0.650000	0.86243	GGA		0.353	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		10	73	0	0	0	0	10	73				
FAM53B	9679	broad.mit.edu	37	10	126370453	126370453	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:126370453G>C	ENST00000337318.3	-	4	840	c.629C>G	c.(628-630)aCc>aGc	p.T210S	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.T210S|FAM53B_ENST00000280780.6_Missense_Mutation_p.T210S	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	210										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGGCTCCAGGTGTCACCTGC	0.642																																						uc001lhv.1		NA																	0				ovary(1)|pancreas(1)	2						c.(628-630)ACC>AGC		hypothetical protein LOC9679							24.0	25.0	24.0					10																	126370453		2202	4298	6500	SO:0001583	missense	9679							g.chr10:126370453G>C	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.629C>G	10.37:g.126370453G>C	ENSP00000338532:p.Thr210Ser					FAM53B_uc001lhu.1_Missense_Mutation_p.T210S|FAM53B_uc001lhw.2_Missense_Mutation_p.T210S	p.T210S	NM_014661	NP_055476	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	1152	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	210					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.629C>G	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.510845	0.00153	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.38887	1.11;1.11;1.11	4.24	-1.94	0.07571	.	1.483400	0.03376	N	0.199700	T	0.11024	0.0269	N	0.00841	-1.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.28106	-1.0054	10	0.02654	T	1	-16.8236	1.8051	0.03079	0.2115:0.1335:0.4052:0.2497	.	210;210;210	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	S	210	ENSP00000338532:T210S;ENSP00000376509:T210S;ENSP00000280780:T210S	ENSP00000280780:T210S	T	-	2	0	FAM53B	126360443	0.000000	0.05858	0.004000	0.12327	0.163000	0.22366	-0.425000	0.07017	-0.335000	0.08451	0.655000	0.94253	ACC		0.642	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		2	9	0	0	0	0	2	9				
FOLH1	2346	broad.mit.edu	37	11	49227672	49227672	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:49227672A>G	ENST00000256999.2	-	2	431	c.171T>C	c.(169-171)aaT>aaC	p.N57N	FOLH1_ENST00000356696.3_Silent_p.N57N|FOLH1_ENST00000533034.1_Silent_p.N42N|FOLH1_ENST00000340334.7_Silent_p.N42N|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	57					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ATGCTTTCATATTATGCTTTG	0.323																																						uc001ngy.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(169-171)AAT>AAC		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						49.0	53.0	52.0					11																	49227672		2198	4283	6481	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49227672A>G	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.171T>C	11.37:g.49227672A>G						FOLH1_uc001ngz.2_Silent_p.N57N|FOLH1_uc009yly.2_Silent_p.N42N|FOLH1_uc009ylz.2_Silent_p.N42N|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_Silent_p.N42N	p.N57N	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			2	432	-			57			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.171T>C	CCDS7946.1																																																																																				0.323	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		14	26	0	0	0	0	14	26				
DAGLA	747	broad.mit.edu	37	11	61511763	61511763	+	Silent	SNP	C	C	G	rs145101853		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:61511763C>G	ENST00000257215.5	+	20	3047	c.2931C>G	c.(2929-2931)gcC>gcG	p.A977A	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	977					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGCTCTTTGCCGGCTCAGCCG	0.677																																						uc001nsa.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2929-2931)GCC>GCG		neural stem cell-derived dendrite regulator							55.0	64.0	61.0					11																	61511763		2202	4299	6501	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511763C>G	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2931C>G	11.37:g.61511763C>G							p.A977A	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	3042	+			977			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.2931C>G	CCDS31578.1																																																																																				0.677	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		21	55	0	0	0	0	21	55				
B3GNT1	11041	broad.mit.edu	37	11	66113556	66113556	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:66113556C>G	ENST00000311181.4	-	2	1358	c.1212G>C	c.(1210-1212)ttG>ttC	p.L404F	BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	404					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						ACTTGGCCTTCAACTCCTGTT	0.512																																						uc001ohr.2		NA																	0					0						c.(1210-1212)TTG>TTC		UDP-GlcNAc:betaGal							275.0	246.0	256.0					11																	66113556		2200	4295	6495	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66113556C>G	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.1212G>C	11.37:g.66113556C>G	ENSP00000309096:p.Leu404Phe					BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	p.L404F	NM_006876	NP_006867	O43505	B3GN1_HUMAN			2	1357	-			404			Lumenal (Potential).		Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.1212G>C	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005523	0.54254	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.28255	1.62	5.29	5.29	0.74685	.	0.080643	0.50627	D	0.000103	T	0.53867	0.1823	M	0.79343	2.45	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.57219	-0.7849	10	0.66056	D	0.02	-14.8723	9.9725	0.41763	0.0:0.9078:0.0:0.0922	.	404	O43505	B3GN1_HUMAN	F	404;175	ENSP00000309096:L404F	ENSP00000309096:L404F	L	-	3	2	B3GNT1	65870132	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.243000	0.43115	2.482000	0.83794	0.655000	0.94253	TTG		0.512	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		24	110	0	0	0	0	24	110				
NXPE2	120406	broad.mit.edu	37	11	114568901	114568901	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:114568901G>T	ENST00000389586.4	+	3	457	c.267G>T	c.(265-267)gaG>gaT	p.E89D	NXPE2_ENST00000375475.5_Missense_Mutation_p.E89D	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	89						integral component of membrane (GO:0016021)											ACATTATGGAGAAACTAGACC	0.458																																						uc009yyy.2		NA																	0				ovary(1)	1						c.(265-267)GAG>GAT		hypothetical protein LOC120406							183.0	149.0	159.0					11																	114568901		692	1591	2283	SO:0001583	missense	120406					integral to membrane		g.chr11:114568901G>T	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.267G>T	11.37:g.114568901G>T	ENSP00000374237:p.Glu89Asp						p.E89D	NM_182495	NP_872301	Q96DL1	FA55B_HUMAN			3	365	+			89					Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	c.267G>T	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008543	0.35415	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.19394	2.67;2.15	4.54	2.39	0.29439	.	1.133870	0.06658	N	0.763967	T	0.33904	0.0879	M	0.74881	2.28	0.09310	N	1	P	0.44281	0.831	P	0.50537	0.643	T	0.17289	-1.0374	10	0.39692	T	0.17	.	4.8698	0.13627	0.2085:0.0:0.6075:0.184	.	89	Q96DL1	FA55B_HUMAN	D	89	ENSP00000374237:E89D;ENSP00000364624:E89D	ENSP00000364624:E89D	E	+	3	2	FAM55B	114074111	0.137000	0.22531	0.022000	0.16811	0.708000	0.40852	0.834000	0.27518	0.906000	0.36621	0.591000	0.81541	GAG		0.458	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		15	23	1	0	5.35e-07	6.14e-07	15	23				
VWA5A	4013	broad.mit.edu	37	11	124007741	124007741	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:124007741G>T	ENST00000456829.2	+	15	1896	c.1645G>T	c.(1645-1647)Gct>Tct	p.A549S	VWA5A_ENST00000392748.1_Missense_Mutation_p.A549S|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	549										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCACCGCCTTGCTGCCAAGTC	0.453																																						uc001pzu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1645-1647)GCT>TCT		BCSC-1 isoform 1							68.0	72.0	71.0					11																	124007741		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124007741G>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1645G>T	11.37:g.124007741G>T	ENSP00000407726:p.Ala549Ser					VWA5A_uc001pzt.2_Missense_Mutation_p.A549S	p.A549S	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			15	1854	+			549					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1645G>T	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555324	0.86231	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.05649	3.41;3.41	5.26	5.26	0.73747	.	0.108992	0.64402	D	0.000009	T	0.18257	0.0438	M	0.85299	2.745	0.80722	D	1	P	0.51933	0.949	P	0.51016	0.656	T	0.18023	-1.0350	10	0.13108	T	0.6	-13.2867	16.3487	0.83191	0.0:0.0:1.0:0.0	.	549	O00534	VMA5A_HUMAN	S	549	ENSP00000407726:A549S;ENSP00000376504:A549S	ENSP00000376504:A549S	A	+	1	0	VWA5A	123512951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.458000	0.83093	0.650000	0.86243	GCT		0.453	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		23	30	1	0	2.45e-14	3.02e-14	23	30				
CD163	9332	broad.mit.edu	37	12	7639150	7639150	+	Silent	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:7639150G>A	ENST00000359156.4	-	10	2605	c.2403C>T	c.(2401-2403)caC>caT	p.H801H	CD163_ENST00000396620.3_Silent_p.H834H|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Silent_p.H789H|CD163_ENST00000432237.2_Silent_p.H801H	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	801	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GCCCCCAGCCGTGTGAATGGC	0.483																																						uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(2401-2403)CAC>CAT		CD163 antigen isoform a							122.0	124.0	123.0					12																	7639150		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639150G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2403C>T	12.37:g.7639150G>A						CD163_uc001qta.3_Silent_p.H801H|CD163_uc009zfw.2_Silent_p.H834H	p.H801H	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			10	2531	-			801			SRCR 7.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.2403C>T	CCDS8578.1																																																																																				0.483	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		46	114	0	0	0	0	46	114				
TMEM117	84216	broad.mit.edu	37	12	44605082	44605082	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:44605082A>G	ENST00000266534.3	+	5	647	c.520A>G	c.(520-522)Atg>Gtg	p.M174V	TMEM117_ENST00000536799.1_Missense_Mutation_p.M70V|TMEM117_ENST00000551577.1_Missense_Mutation_p.M174V	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	174						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.M174L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GGTCACTGATATGATGCTTCA	0.353																																						uc001rod.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(520-522)ATG>GTG		transmembrane protein 117							103.0	102.0	102.0					12																	44605082		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44605082A>G	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.520A>G	12.37:g.44605082A>G	ENSP00000266534:p.Met174Val					TMEM117_uc001roe.2_Missense_Mutation_p.M70V|TMEM117_uc009zkc.2_Missense_Mutation_p.M174V	p.M174V	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	5	586	+	Lung SC(27;0.192)		174			Helical; (Potential).			Missense_Mutation	SNP	ENST00000266534.3	37	c.520A>G	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192621	0.78902	.	.	ENSG00000139173	ENST00000551577;ENST00000266534;ENST00000536799	T;T;T	0.50548	0.74;0.74;0.74	5.92	5.92	0.95590	.	0.074144	0.85682	D	0.000000	T	0.65995	0.2745	L	0.61218	1.895	0.45439	D	0.998416	B;P;P	0.43578	0.452;0.811;0.811	P;P;P	0.60789	0.455;0.879;0.828	T	0.67205	-0.5729	10	0.72032	D	0.01	-28.7588	16.3631	0.83280	1.0:0.0:0.0:0.0	.	174;70;174	F8VS00;F5H3Q2;Q9H0C3	.;.;TM117_HUMAN	V	174;174;70	ENSP00000448595:M174V;ENSP00000266534:M174V;ENSP00000445243:M70V	ENSP00000266534:M174V	M	+	1	0	TMEM117	42891349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.002000	0.88514	2.266000	0.75297	0.533000	0.62120	ATG		0.353	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		14	49	0	0	0	0	14	49				
ERBB3	2065	broad.mit.edu	37	12	56481413	56481413	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:56481413A>T	ENST00000267101.3	+	5	1040	c.600A>T	c.(598-600)gaA>gaT	p.E200D	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.E141D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	200					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGATCAGAAGACTGCCAGA	0.552																																						uc001sjh.2		NA																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(598-600)GAA>GAT		erbB-3 isoform 1 precursor							120.0	115.0	117.0					12																	56481413		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481413A>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.600A>T	12.37:g.56481413A>T	ENSP00000267101:p.Glu200Asp					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.E141D|ERBB3_uc001sji.2_5'Flank	p.E200D	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		5	793	+			200			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.600A>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	7.367	0.626015	0.14257	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.81996	-1.56;-1.56	5.93	-0.611	0.11601	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.351915	0.27572	N	0.018775	T	0.53302	0.1788	N	0.02775	-0.495	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	10	0.12103	T	0.63	.	4.8676	0.13616	0.4323:0.2677:0.3:0.0	.	200	P21860	ERBB3_HUMAN	D	200;200;141	ENSP00000267101:E200D;ENSP00000408340:E141D	ENSP00000267101:E200D	E	+	3	2	ERBB3	54767680	0.984000	0.35163	0.997000	0.53966	0.995000	0.86356	0.163000	0.16520	-0.104000	0.12154	0.533000	0.62120	GAA		0.552	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			20	42	0	0	0	0	20	42				
MED13L	23389	broad.mit.edu	37	12	116421091	116421091	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:116421091T>C	ENST00000281928.3	-	21	4992	c.4786A>G	c.(4786-4788)Att>Gtt	p.I1596V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1596	Ser-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATCTGGCTAATACCAGGAGCA	0.512																																						uc001tvw.2		NA																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(4786-4788)ATT>GTT		mediator complex subunit 13-like							115.0	107.0	109.0					12																	116421091		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116421091T>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4786A>G	12.37:g.116421091T>C	ENSP00000281928:p.Ile1596Val						p.I1596V	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	21	4841	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1596			Ser-rich.		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.4786A>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.510795	0.27036	.	.	ENSG00000123066	ENST00000281928	T	0.72835	-0.69	6.17	0.95	0.19572	.	0.776471	0.12402	N	0.472043	T	0.42966	0.1226	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23797	-1.0178	10	0.16896	T	0.51	.	9.4061	0.38462	0.0:0.5177:0.0:0.4823	.	1596	Q71F56	MD13L_HUMAN	V	1596	ENSP00000281928:I1596V	ENSP00000281928:I1596V	I	-	1	0	MED13L	114905474	0.000000	0.05858	0.008000	0.14137	0.955000	0.61496	-0.747000	0.04823	0.165000	0.19558	0.533000	0.62120	ATT		0.512	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			22	37	0	0	0	0	22	37				
GCN1L1	10985	broad.mit.edu	37	12	120584869	120584869	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:120584869A>C	ENST00000300648.6	-	38	4946	c.4934T>G	c.(4933-4935)cTg>cGg	p.L1645R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1645					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGTCTGTCAGGGAGTACAT	0.557																																						uc001txo.2		NA																	0				ovary(4)	4						c.(4933-4935)CTG>CGG		GCN1 general control of amino-acid synthesis							57.0	59.0	59.0					12																	120584869		2116	4245	6361	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120584869A>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4934T>G	12.37:g.120584869A>C	ENSP00000300648:p.Leu1645Arg						p.L1645R	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			38	4947	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1645			HEAT 11.		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4934T>G	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803986	0.90623	.	.	ENSG00000089154	ENST00000300648	T	0.65916	-0.18	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89253	0.3592	10	0.87932	D	0	.	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1645	Q92616	GCN1L_HUMAN	R	1645	ENSP00000300648:L1645R	ENSP00000300648:L1645R	L	-	2	0	GCN1L1	119069252	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	CTG		0.557	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			9	15	0	0	0	0	9	15				
KNTC1	9735	broad.mit.edu	37	12	123095404	123095404	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:123095404A>G	ENST00000333479.7	+	53	5756	c.5579A>G	c.(5578-5580)tAt>tGt	p.Y1860C	KNTC1_ENST00000450485.2_Missense_Mutation_p.Y785C|KNTC1_ENST00000537348.1_Missense_Mutation_p.Y285C|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1860					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCAATTGATTATAGTTCAAGA	0.328																																						uc001ucv.2		NA																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(5578-5580)TAT>TGT		Rough Deal homolog, centromere/kinetochore							123.0	113.0	116.0					12																	123095404		1843	4089	5932	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123095404A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5579A>G	12.37:g.123095404A>G	ENSP00000328236:p.Tyr1860Cys					KNTC1_uc010taf.1_Missense_Mutation_p.Y785C	p.Y1860C	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	53	5742	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1860					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.5579A>G	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.088322	0.55968	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000537348;ENST00000546125	T;T;T;T	0.49139	1.88;2.37;0.79;1.45	4.79	4.79	0.61399	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.347798	0.32901	N	0.005504	T	0.64768	0.2628	M	0.63428	1.95	0.42933	D	0.994324	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.971	T	0.67906	-0.5549	10	0.56958	D	0.05	-15.1497	13.807	0.63238	1.0:0.0:0.0:0.0	.	785;1860	E7ES84;P50748	.;KNTC1_HUMAN	C	785;1860;285;47	ENSP00000397992:Y785C;ENSP00000328236:Y1860C;ENSP00000443622:Y285C;ENSP00000439119:Y47C	ENSP00000328236:Y1860C	Y	+	2	0	KNTC1	121661357	0.998000	0.40836	0.933000	0.37362	0.726000	0.41606	4.307000	0.59123	1.910000	0.55303	0.528000	0.53228	TAT		0.328	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			12	24	0	0	0	0	12	24				
MTUS2	23281	broad.mit.edu	37	13	29600957	29600957	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:29600957G>A	ENST00000431530.3	+	1	2210	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	708	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAGCCAAGGGTCTTCAGTTC	0.493																																						uc001usl.3		NA																	0					0						c.(2152-2154)GTC>ATC		hypothetical protein LOC23281 isoform a							63.0	65.0	65.0					13																	29600957		1898	4108	6006	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600957G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2152G>A	13.37:g.29600957G>A	ENSP00000392057:p.Val718Ile						p.V718I	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	2210	+			708			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2152G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332517	0.41297	.	.	ENSG00000132938	ENST00000431530	T	0.12569	2.67	6.17	4.21	0.49690	.	0.125602	0.36303	N	0.002676	T	0.10294	0.0252	L	0.46157	1.445	0.80722	D	1	P	0.36683	0.565	B	0.33690	0.168	T	0.03587	-1.1022	9	.	.	.	.	5.586	0.17275	0.1673:0.2849:0.5478:0.0	.	708	Q5JR59	MTUS2_HUMAN	I	718	ENSP00000392057:V718I	.	V	+	1	0	MTUS2	28498957	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	2.195000	0.42677	2.941000	0.99782	0.655000	0.94253	GTC		0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		14	29	0	0	0	0	14	29				
SPG20	23111	broad.mit.edu	37	13	36909740	36909740	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:36909740C>A	ENST00000451493.1	-	2	445	c.228G>T	c.(226-228)caG>caT	p.Q76H	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.Q76H|SPG20_ENST00000494062.2_Missense_Mutation_p.Q76H|SPG20_ENST00000355182.4_Missense_Mutation_p.Q76H	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	76	MIT.				abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCTGTTGCATCTGTCTAGCAG	0.453																																						uc001uvn.2		NA																	0					0						c.(226-228)CAG>CAT		spartin							99.0	93.0	95.0					13																	36909740		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909740C>A	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.228G>T	13.37:g.36909740C>A	ENSP00000414147:p.Gln76His					SPG20_uc010ten.1_Missense_Mutation_p.Q76H|SPG20_uc001uvm.2_Missense_Mutation_p.Q76H|SPG20_uc001uvo.2_Missense_Mutation_p.Q76H|SPG20_uc001uvq.2_Missense_Mutation_p.Q76H|SPG20_uc001uvp.2_Missense_Mutation_p.Q76H	p.Q76H	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	498	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	76			MIT.		O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.228G>T	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862206	0.51482	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89875	-2.58;-2.58;-2.58	5.96	4.24	0.50183	MIT (2);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	M	0.68952	2.095	0.48087	D	0.99958	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.998	D	0.90925	0.4786	10	0.56958	D	0.05	-17.7675	9.5832	0.39501	0.0:0.6761:0.0:0.3239	.	76;76;76	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	H	76	ENSP00000406061:Q76H;ENSP00000347314:Q76H;ENSP00000414147:Q76H	ENSP00000347314:Q76H	Q	-	3	2	SPG20	35807740	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	1.594000	0.36697	0.442000	0.26555	-0.813000	0.03139	CAG		0.453	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			26	27	1	0	9.58e-11	1.16e-10	26	27				
PCDH8	5100	broad.mit.edu	37	13	53421763	53421763	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:53421763G>C	ENST00000377942.3	-	1	1012	c.809C>G	c.(808-810)gCa>gGa	p.A270G	PCDH8_ENST00000338862.4_Missense_Mutation_p.A270G	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	270	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGGGTCGGCTGCGTCCAGGTC	0.711																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(808-810)GCA>GGA		protocadherin 8 isoform 1 precursor							6.0	6.0	6.0					13																	53421763		1967	3950	5917	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421763G>C	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.809C>G	13.37:g.53421763G>C	ENSP00000367177:p.Ala270Gly					PCDH8_uc001vhj.2_Missense_Mutation_p.A270G	p.A270G	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1012	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	270			Extracellular (Potential).|Cadherin 3.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.809C>G	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535329	0.64972	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.61859	0.07;0.07	4.37	4.37	0.52481	Cadherin (5);Cadherin-like (1);	0.000000	0.43919	D	0.000517	D	0.84692	0.5528	H	0.98089	4.145	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.90845	0.4726	10	0.87932	D	0	.	16.0978	0.81139	0.0:0.0:1.0:0.0	.	270;270	O95206-2;O95206	.;PCDH8_HUMAN	G	270	ENSP00000367177:A270G;ENSP00000341350:A270G	ENSP00000341350:A270G	A	-	2	0	PCDH8	52319764	1.000000	0.71417	0.991000	0.47740	0.319000	0.28217	7.408000	0.80041	2.268000	0.75426	0.462000	0.41574	GCA		0.711	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		2	1	0	0	0	0	2	1				
SLITRK5	26050	broad.mit.edu	37	13	88328847	88328847	+	Missense_Mutation	SNP	G	G	T	rs369443848		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:88328847G>T	ENST00000325089.6	+	2	1423	c.1204G>T	c.(1204-1206)Gct>Tct	p.A402S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.A161S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	402	LRRNT.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGAGAGCATCGCTGAACTGCA	0.567																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1204-1206)GCT>TCT		SLIT and NTRK-like family, member 5 precursor							92.0	76.0	82.0					13																	88328847		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328847G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1204G>T	13.37:g.88328847G>T	ENSP00000366283:p.Ala402Ser					SLITRK5_uc010tic.1_Missense_Mutation_p.A161S	p.A402S	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1423	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		402			Extracellular (Potential).|LRRNT.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1204G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	0.801	-0.755261	0.03019	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.26223	1.75;1.75	5.75	4.82	0.62117	Leucine-rich repeat-containing N-terminal (1);	0.060511	0.64402	D	0.000002	T	0.06508	0.0167	N	0.00465	-1.465	0.36491	D	0.868437	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.32375	-0.9909	9	.	.	.	-8.5884	10.6191	0.45470	0.0:0.0:0.6877:0.3123	.	161;402	B4DSH5;O94991	.;SLIK5_HUMAN	S	402;161	ENSP00000366283:A402S;ENSP00000442244:A161S	.	A	+	1	0	SLITRK5	87126848	1.000000	0.71417	0.708000	0.30435	0.945000	0.59286	3.900000	0.56295	2.714000	0.92807	0.561000	0.74099	GCT		0.567	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			17	19	1	0	2.35e-11	2.86e-11	17	19				
COQ6	51004	broad.mit.edu	37	14	74428218	74428218	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr14:74428218T>A	ENST00000334571.2	+	10	1195	c.1155T>A	c.(1153-1155)gaT>gaA	p.D385E	COQ6_ENST00000238709.4_Missense_Mutation_p.D310E|COQ6_ENST00000394026.4_Missense_Mutation_p.D360E|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	385					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GCTTTGGGGATATCTCCAGCT	0.512																																						uc001xph.2		NA																	0					0						c.(1153-1155)GAT>GAA		coenzyme Q6 homolog isoform a							103.0	88.0	94.0					14																	74428218		2203	4300	6503	SO:0001583	missense	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74428218T>A	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.1155T>A	14.37:g.74428218T>A	ENSP00000333946:p.Asp385Glu					ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.D310E|COQ6_uc001xpf.2_Missense_Mutation_p.D310E|COQ6_uc010tuk.1_Missense_Mutation_p.D360E|COQ6_uc001xpg.2_Missense_Mutation_p.D385E	p.D385E	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	10	1235	+			385					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	c.1155T>A	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424845	0.83667	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000334571;ENST00000557780;ENST00000556299	T;T;T	0.74002	-0.8;-0.8;-0.8	5.33	4.14	0.48551	Monooxygenase, FAD-binding (1);Aromatic-ring hydroxylase-like (1);Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/VisC/COQ6, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88562	0.6470	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89459	0.3735	10	0.87932	D	0	-0.0436	9.9432	0.41593	0.0:0.0887:0.0:0.9113	.	360;385;310;310	B7Z3K8;Q9Y2Z9;G3XA86;Q86U30	.;COQ6_HUMAN;.;.	E	360;310;310;385;73;73	ENSP00000377594:D360E;ENSP00000238709:D310E;ENSP00000333946:D385E	ENSP00000238709:D310E	D	+	3	2	COQ6	73497971	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	2.103000	0.41806	0.976000	0.38417	0.533000	0.62120	GAT		0.512	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			10	27	0	0	0	0	10	27				
TRPM7	54822	broad.mit.edu	37	15	50935734	50935734	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:50935734T>C	ENST00000313478.7	-	5	619	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	TRPM7_ENST00000560955.1_Missense_Mutation_p.Y113C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	113					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTGGTGTCATATGATAGCCT	0.338																																						uc001zyt.3		NA																	0				ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(337-339)TAT>TGT		transient receptor potential cation channel,							84.0	76.0	78.0					15																	50935734		1834	4088	5922	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50935734T>C	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.338A>G	15.37:g.50935734T>C	ENSP00000320239:p.Tyr113Cys					TRPM7_uc010bew.1_Missense_Mutation_p.Y113C	p.Y113C	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	5	602	-			113			Cytoplasmic (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.338A>G	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696059	0.48202	.	.	ENSG00000092439	ENST00000313478	T	0.61980	0.06	5.1	5.1	0.69264	.	0.065468	0.64402	D	0.000006	T	0.64327	0.2588	L	0.40543	1.245	0.58432	D	0.999998	D	0.65815	0.995	P	0.52514	0.701	T	0.66952	-0.5793	10	0.52906	T	0.07	-19.6299	15.0446	0.71816	0.0:0.0:0.0:1.0	.	113	Q96QT4	TRPM7_HUMAN	C	113	ENSP00000320239:Y113C	ENSP00000320239:Y113C	Y	-	2	0	TRPM7	48723026	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.825000	0.86693	2.127000	0.65507	0.528000	0.53228	TAT		0.338	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		16	40	0	0	0	0	16	40				
IQCH	64799	broad.mit.edu	37	15	67786666	67786666	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:67786666A>G	ENST00000335894.4	+	20	2998	c.2932A>G	c.(2932-2934)Ata>Gta	p.I978V	IQCH_ENST00000358767.3_Missense_Mutation_p.N693S|IQCH_ENST00000360277.4_Missense_Mutation_p.N618S|IQCH_ENST00000546225.1_Missense_Mutation_p.I635V|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	978										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCATCAAGAAATATCAGCACC	0.398																																						uc002aqo.1		NA																	0				skin(3)|ovary(1)	4						c.(2932-2934)ATA>GTA		IQ motif containing H isoform 1							95.0	85.0	88.0					15																	67786666		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67786666A>G	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2932A>G	15.37:g.67786666A>G	ENSP00000336861:p.Ile978Val					IQCH_uc002aqq.1_Missense_Mutation_p.I635V|IQCH_uc002aqp.1_Missense_Mutation_p.N618S|uc002aqr.1_Intron	p.I978V	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	20	2979	+			978					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2932A>G	CCDS32273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.83|17.83	3.484582|3.484582	0.63962|0.63962	.|.	.|.	ENSG00000103599|ENSG00000103599	ENST00000546225;ENST00000335894|ENST00000358767;ENST00000360277	T;T|T;T	0.12361|0.43688	2.69;2.69|0.95;0.94	5.62|5.62	4.5|4.5	0.54988|0.54988	.|.	0.088618|.	0.85682|.	N|.	0.000000|.	T|T	0.42337|0.42337	0.1198|0.1198	M|M	0.80847|0.80847	2.515|2.515	0.38176|0.38176	D|D	0.93947|0.93947	D;P|P	0.63046|0.35872	0.992;0.754|0.525	P;P|B	0.62014|0.33454	0.897;0.525|0.164	T|T	0.50600|0.50600	-0.8809|-0.8809	10|9	0.66056|0.87932	D|D	0.02|0	-20.2432|-20.2432	7.0708|7.0708	0.25177|0.25177	0.7967:0.0:0.0713:0.1319|0.7967:0.0:0.0713:0.1319	.|.	635;978|618	Q86VS3-2;Q86VS3|Q86VS3-4	.;IQCH_HUMAN|.	V|S	635;978|693;618	ENSP00000444118:I635V;ENSP00000336861:I978V|ENSP00000351617:N693S;ENSP00000353419:N618S	ENSP00000336861:I978V|ENSP00000351617:N693S	I|N	+|+	1|2	0|0	IQCH|IQCH	65573720|65573720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.776000|5.776000	0.68924|0.68924	0.981000|0.981000	0.38548|0.38548	0.528000|0.528000	0.53228|0.53228	ATA|AAT		0.398	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		5	21	0	0	0	0	5	21				
MESDC2	23184	broad.mit.edu	37	15	81282115	81282115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:81282115C>T	ENST00000261758.4	-	1	104	c.18G>A	c.(16-18)tgG>tgA	p.W6*	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	6	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CCTTGCGCGCCCACCTGGAAG	0.711																																						uc002bfy.1		NA																	0					0						c.(16-18)TGG>TGA		mesoderm development candidate 2							13.0	12.0	12.0					15																	81282115		2189	4264	6453	SO:0001587	stop_gained	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81282115C>T	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.18G>A	15.37:g.81282115C>T	ENSP00000261758:p.Trp6*					MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	p.W6*	NM_015154	NP_055969	Q14696	MESD_HUMAN			1	91	-			6			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	Nonsense_Mutation	SNP	ENST00000261758.4	37	c.18G>A	CCDS32308.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320617	0.60634	.	.	ENSG00000117899	ENST00000422879;ENST00000261758	.	.	.	4.48	3.54	0.40534	.	0.168765	0.42682	D	0.000676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.8231	12.9843	0.58583	0.0:0.8373:0.1627:0.0	.	.	.	.	X	6	.	ENSP00000261758:W6X	W	-	3	0	MESDC2	79069170	0.019000	0.18553	0.015000	0.15790	0.010000	0.07245	0.457000	0.21875	1.185000	0.42971	0.591000	0.81541	TGG		0.711	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		8	11	0	0	0	0	8	11				
SLCO3A1	28232	broad.mit.edu	37	15	92671678	92671678	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:92671678A>T	ENST00000318445.6	+	7	1685	c.1471A>T	c.(1471-1473)Atc>Ttc	p.I491F	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.I491F	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	491	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GGCAGATGGCATCACCTACCT	0.567																																						uc002bqx.2		NA																	0				skin(1)	1						c.(1471-1473)ATC>TTC		solute carrier organic anion transporter family,							156.0	118.0	131.0					15																	92671678		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92671678A>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1471A>T	15.37:g.92671678A>T	ENSP00000320634:p.Ile491Phe					SLCO3A1_uc002bqy.2_Missense_Mutation_p.I491F|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.I433F	p.I491F	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		7	1672	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		491			Extracellular (Potential).|Kazal-like.		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1471A>T	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992704	0.54041	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.04603	3.59;3.59	5.46	-0.941	0.10402	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Protease inhibitor, Kazal-type (1);	0.358821	0.35436	N	0.003205	T	0.08670	0.0215	L	0.55213	1.73	0.45567	D	0.99851	B;P;P	0.36222	0.441;0.493;0.544	B;B;P	0.45343	0.154;0.189;0.477	T	0.06023	-1.0850	10	0.62326	D	0.03	.	11.506	0.50466	0.5345:0.0:0.4655:0.0	.	433;491;491	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	F	491;491;210	ENSP00000320634:I491F;ENSP00000387846:I491F	ENSP00000320634:I491F	I	+	1	0	SLCO3A1	90472682	1.000000	0.71417	0.829000	0.32907	0.993000	0.82548	2.338000	0.43957	-0.433000	0.07286	-0.250000	0.11733	ATC		0.567	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		19	45	0	0	0	0	19	45				
ST8SIA2	8128	broad.mit.edu	37	15	93007600	93007600	+	Silent	SNP	C	C	T	rs113311093		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:93007600C>T	ENST00000268164.3	+	6	1350	c.1113C>T	c.(1111-1113)tgC>tgT	p.C371C	ST8SIA2_ENST00000539113.1_Silent_p.C350C	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	371					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCGGCCAGTGCGATGGGGCCA	0.597																																						uc002bra.2		NA																	0					0						c.(1111-1113)TGC>TGT		ST8 alpha-N-acetyl-neuraminide							74.0	71.0	72.0					15																	93007600		2198	4298	6496	SO:0001819	synonymous_variant	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007600C>T	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.1113C>T	15.37:g.93007600C>T						ST8SIA2_uc002brb.2_Silent_p.C350C	p.C371C	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		6	1268	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		371			Lumenal (Potential).		Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.1113C>T	CCDS10372.1																																																																																				0.597	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		27	57	0	0	0	0	27	57				
DNAH3	55567	broad.mit.edu	37	16	21078616	21078616	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:21078616A>G	ENST00000261383.3	-	24	3505	c.3506T>C	c.(3505-3507)cTa>cCa	p.L1169P	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1169P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1169	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGGAAGAATAGTCTCTTCTT	0.438																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3505-3507)CTA>CCA		dynein, axonemal, heavy chain 3							83.0	84.0	84.0					16																	21078616		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21078616A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3506T>C	16.37:g.21078616A>G	ENSP00000261383:p.Leu1169Pro						p.L1169P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	24	3506	-			1169			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3506T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469201	0.63625	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61510	0.1;0.1	5.64	5.64	0.86602	Dynein heavy chain, domain-2 (1);	0.196730	0.32093	N	0.006599	T	0.74726	0.3754	H	0.96430	3.82	0.80722	D	1	B	0.27791	0.189	B	0.35278	0.199	T	0.78723	-0.2093	10	0.72032	D	0.01	.	15.8642	0.79052	1.0:0.0:0.0:0.0	.	1169	Q8TD57	DYH3_HUMAN	P	1169	ENSP00000261383:L1169P;ENSP00000394245:L1169P	ENSP00000261383:L1169P	L	-	2	0	DNAH3	20986117	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	8.979000	0.93455	2.145000	0.66743	0.519000	0.50382	CTA		0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		21	13	0	0	0	0	21	13				
CHD9	80205	broad.mit.edu	37	16	53358379	53358379	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:53358379A>G	ENST00000398510.3	+	38	8353	c.8266A>G	c.(8266-8268)Agg>Ggg	p.R2756G	CHD9_ENST00000566029.1_Missense_Mutation_p.R2740G|CHD9_ENST00000447540.1_Missense_Mutation_p.R2741G|CHD9_ENST00000564845.1_Missense_Mutation_p.R2740G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2756					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAAAACAGAAAGGACAGAGAG	0.463																																						uc002ehb.2		NA																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(8266-8268)AGG>GGG		chromodomain helicase DNA binding protein 9							53.0	53.0	53.0					16																	53358379		1931	4150	6081	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358379A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8266A>G	16.37:g.53358379A>G	ENSP00000381522:p.Arg2756Gly					CHD9_uc002egy.2_Missense_Mutation_p.R2740G|CHD9_uc002ehc.2_Missense_Mutation_p.R2741G|CHD9_uc002ehf.2_Missense_Mutation_p.R1854G|CHD9_uc010cbw.2_Missense_Mutation_p.R822G	p.R2756G	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			38	8430	+		all_cancers(37;0.0212)	2756					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.8266A>G		.	.	.	.	.	.	.	.	.	.	A	12.33	1.906517	0.33628	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.85861	-2.04	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000007	D	0.88533	0.6462	L	0.40543	1.245	0.54753	D	0.999988	D;D;D;D	0.67145	0.996;0.996;0.987;0.996	P;P;D;P	0.66196	0.906;0.851;0.942;0.851	D	0.89145	0.3519	10	0.54805	T	0.06	-11.9027	15.8507	0.78927	1.0:0.0:0.0:0.0	.	822;2741;2756;2740	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	G	2741;2740;822	ENSP00000396345:R2741G	ENSP00000381522:R2740G	R	+	1	2	CHD9	51915880	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.994000	0.70623	2.203000	0.70933	0.533000	0.62120	AGG		0.463	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		19	24	0	0	0	0	19	24				
ZZEF1	23140	broad.mit.edu	37	17	3921231	3921231	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:3921231T>A	ENST00000381638.2	-	47	7664	c.7540A>T	c.(7540-7542)Ata>Tta	p.I2514L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2514							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGGACCGTATCCTTTCATCT	0.507																																						uc002fxe.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(7540-7542)ATA>TTA		zinc finger, ZZ type with EF hand domain 1							122.0	103.0	109.0					17																	3921231		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3921231T>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7540A>T	17.37:g.3921231T>A	ENSP00000371051:p.Ile2514Leu					ZZEF1_uc002fxg.1_5'Flank	p.I2514L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			47	7604	-			2514					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.7540A>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352431	0.61293	.	.	ENSG00000074755	ENST00000381638	T	0.29655	1.56	5.53	4.38	0.52667	.	0.050727	0.85682	D	0.000000	T	0.17023	0.0409	N	0.14661	0.345	0.47737	D	0.999506	B	0.27882	0.192	B	0.26517	0.07	T	0.06661	-1.0814	10	0.87932	D	0	-14.1901	6.9049	0.24303	0.0:0.0752:0.1519:0.7729	.	2514	O43149	ZZEF1_HUMAN	L	2514	ENSP00000371051:I2514L	ENSP00000371051:I2514L	I	-	1	0	ZZEF1	3867980	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.642000	0.61383	2.100000	0.63781	0.528000	0.53228	ATA		0.507	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		9	38	0	0	0	0	9	38				
USP6	9098	broad.mit.edu	37	17	5042664	5042664	+	Missense_Mutation	SNP	G	G	A	rs374751662		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:5042664G>A	ENST00000574788.1	+	22	3423	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	USP6_ENST00000332776.4_Missense_Mutation_p.R398Q|USP6_ENST00000304328.5_Missense_Mutation_p.R81Q|USP6_ENST00000250066.6_Missense_Mutation_p.R398Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	398					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGTTCCAGCGGCCCATTTGC	0.657			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(1192-1194)CGG>CAG		ubiquitin specific protease 6		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	34.0	38.0	37.0		1193	0.1	0.1	17		37	0,8600		0,0,4300	no	missense	USP6	NM_004505.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	398/1407	5042664	1,13005	2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042664G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1193G>A	17.37:g.5042664G>A	ENSP00000460380:p.Arg398Gln					USP6_uc002gav.1_Missense_Mutation_p.R398Q|USP6_uc010ckz.1_Missense_Mutation_p.R81Q|uc002gbd.2_5'Flank	p.R398Q	NM_004505	NP_004496	P35125	UBP6_HUMAN			22	3423	+			398					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1193G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488380	0.26686	2.27E-4	0.0	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.24723	2.48;2.96;1.84	0.0465	0.0465	0.14256	.	0.847860	0.10577	N	0.658403	T	0.13243	0.0321	N	0.08118	0	0.09310	N	1	P;P	0.47302	0.893;0.829	B;B	0.43360	0.417;0.238	T	0.15407	-1.0438	9	0.59425	D	0.04	.	.	.	.	.	81;398	P35125-2;P35125	.;UBP6_HUMAN	Q	398;398;81	ENSP00000328010:R398Q;ENSP00000250066:R398Q;ENSP00000305473:R81Q	ENSP00000250066:R398Q	R	+	2	0	USP6	4983388	0.097000	0.21791	0.134000	0.22075	0.135000	0.20990	0.055000	0.14229	0.132000	0.18615	0.134000	0.15878	CGG		0.657	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		7	24	0	0	0	0	7	24				
ZNF286A	57335	broad.mit.edu	37	17	15620349	15620349	+	Silent	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:15620349C>T	ENST00000464847.2	+	5	1864	c.1311C>T	c.(1309-1311)ccC>ccT	p.P437P	ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000413242.2_Silent_p.P437P|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Silent_p.P437P|ZNF286A_ENST00000583566.1_Silent_p.P437P|ZNF286A_ENST00000593105.1_Silent_p.P427P			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GAGAGAAACCCTATGAGTGTA	0.388																																						uc010cot.2		NA																	0				central_nervous_system(1)	1						c.(1309-1311)CCC>CCT		zinc finger protein 286							53.0	62.0	59.0					17																	15620349		2203	4300	6503	SO:0001819	synonymous_variant	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15620349C>T	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1311C>T	17.37:g.15620349C>T						ZNF286A_uc002goz.3_Silent_p.P325P|ZNF286A_uc010vwa.1_Silent_p.P437P|ZNF286A_uc002gpa.2_Silent_p.P437P	p.P437P	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	6	1707	+			437					B4DKF9|Q96JF3	Silent	SNP	ENST00000464847.2	37	c.1311C>T	CCDS11172.1																																																																																				0.388	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		14	23	0	0	0	0	14	23				
GPR179	440435	broad.mit.edu	37	17	36485312	36485312	+	Silent	SNP	C	C	A	rs564896386	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:36485312C>A	ENST00000342292.4	-	11	4160	c.4140G>T	c.(4138-4140)ccG>ccT	p.P1380P	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1380					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCAGGGACACGGCTCTGCCT	0.597																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(4138-4140)CCG>CCT		GPR158-like 1 precursor							92.0	99.0	97.0					17																	36485312		2040	4184	6224	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485312C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4140G>T	17.37:g.36485312C>A							p.P1380P	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	4161	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1380			Cytoplasmic (Potential).			Silent	SNP	ENST00000342292.4	37	c.4140G>T	CCDS42308.1																																																																																				0.597	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			42	73	1	0	2.36e-20	2.95e-20	42	73				
MED1	5469	broad.mit.edu	37	17	37564173	37564173	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:37564173G>A	ENST00000300651.6	-	17	4524	c.4301C>T	c.(4300-4302)cCa>cTa	p.P1434L	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACTGATGAGTGGAGAGCCATA	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(4300-4302)CCA>CTA		mediator complex subunit 1							70.0	71.0	71.0					17																	37564173		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564173G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4301C>T	17.37:g.37564173G>A	ENSP00000300651:p.Pro1434Leu	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.P1262L|MED1_uc002hru.2_Intron	p.P1434L	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4513	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1434			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4301C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014626	0.54468	.	.	ENSG00000125686	ENST00000300651	T	0.56275	0.47	4.34	4.34	0.51931	.	.	.	.	.	T	0.58509	0.2127	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	T	0.65483	-0.6157	9	0.87932	D	0	-6.6329	17.4199	0.87512	0.0:0.0:1.0:0.0	.	1434	Q15648	MED1_HUMAN	L	1434	ENSP00000300651:P1434L	ENSP00000300651:P1434L	P	-	2	0	MED1	34817699	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.567000	0.82357	2.400000	0.81607	0.561000	0.74099	CCA		0.488	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		19	41	0	0	0	0	19	41				
CCR7	1236	broad.mit.edu	37	17	38711204	38711204	+	Silent	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:38711204G>A	ENST00000246657.2	-	3	989	c.927C>T	c.(925-927)gaC>gaT	p.D309D	CCR7_ENST00000579344.1_Silent_p.D303D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	309					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGTAGGTGACGTCGTAGGCGA	0.567																																						uc002huw.2		NA																	0				breast(1)	1						c.(925-927)GAC>GAT		chemokine (C-C motif) receptor 7 precursor							225.0	177.0	193.0					17																	38711204		2203	4300	6503	SO:0001819	synonymous_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711204G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.927C>T	17.37:g.38711204G>A							p.D309D	NM_001838	NP_001829	P32248	CCR7_HUMAN			3	990	-		Breast(137;0.000496)	309			Extracellular (Potential).			Silent	SNP	ENST00000246657.2	37	c.927C>T	CCDS11369.1																																																																																				0.567	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			9	38	0	0	0	0	9	38				
TANC2	26115	broad.mit.edu	37	17	61432352	61432352	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:61432352A>G	ENST00000424789.2	+	12	1965	c.1961A>G	c.(1960-1962)tAt>tGt	p.Y654C	TANC2_ENST00000389520.4_Missense_Mutation_p.Y654C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	654					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAAGGGTCCTATCTATATCTG	0.388																																						uc002jal.3		NA																	0				ovary(2)	2						c.(1960-1962)TAT>TGT		tetratricopeptide repeat, ankyrin repeat and							151.0	143.0	145.0					17																	61432352		1869	4107	5976	SO:0001583	missense	26115						binding	g.chr17:61432352A>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1961A>G	17.37:g.61432352A>G	ENSP00000387593:p.Tyr654Cys					TANC2_uc010wpe.1_Missense_Mutation_p.Y564C|TANC2_uc002jam.1_Missense_Mutation_p.Y21C	p.Y654C	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			12	1984	+			654					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1961A>G	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167663	0.57476	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.69435	-0.4;-0.4	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	M	0.62723	1.935	0.54753	D	0.999987	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.68621	0.959;0.95;0.95	T	0.81560	-0.0877	10	0.87932	D	0	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	654;564;654	Q9HCD6-2;D3DU10;Q9HCD6	.;.;TANC2_HUMAN	C	654	ENSP00000374171:Y654C;ENSP00000387593:Y654C	ENSP00000374171:Y654C	Y	+	2	0	TANC2	58786084	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.327000	0.79147	2.281000	0.76405	0.533000	0.62120	TAT		0.388	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			38	84	0	0	0	0	38	84				
ZNF521	25925	broad.mit.edu	37	18	22807417	22807417	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:22807417G>C	ENST00000361524.3	-	4	613	c.465C>G	c.(463-465)ttC>ttG	p.F155L	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.F155L|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	155					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCTTGTGTTTGAACAGCCTAC	0.498			T	PAX5	ALL																																	uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(463-465)TTC>TTG		zinc finger protein 521							130.0	119.0	123.0					18																	22807417		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807417G>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.465C>G	18.37:g.22807417G>C	ENSP00000354794:p.Phe155Leu					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.F155L|ZNF521_uc002kvl.2_5'UTR	p.F155L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	712	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		155			C2H2-type 3.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.465C>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975158	0.18736	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.41065	1.01;1.01	5.93	4.13	0.48395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63908	0.2551	M	0.83852	2.665	0.30347	N	0.78513	D	0.71674	0.998	D	0.77004	0.989	T	0.66316	-0.5954	10	0.59425	D	0.04	-32.0718	10.4065	0.44260	0.2019:0.0:0.7981:0.0	.	155	Q96K83	ZN521_HUMAN	L	155;189;155	ENSP00000354794:F155L;ENSP00000382352:F155L	ENSP00000354794:F155L	F	-	3	2	ZNF521	21061415	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.242000	0.43106	1.513000	0.48852	0.655000	0.94253	TTC		0.498	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		14	64	0	0	0	0	14	64				
RIT2	6014	broad.mit.edu	37	18	40695399	40695399	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:40695399C>T	ENST00000326695.5	-	1	257	c.86G>A	c.(85-87)gGg>gAg	p.G29E	RIT2_ENST00000590910.1_Missense_Mutation_p.G29E|RIT2_ENST00000589109.1_Missense_Mutation_p.G29E|RIT2_ENST00000282028.4_Missense_Mutation_p.G29E	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	29					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAACTCCCCCTGCTCCCAG	0.512																																						uc002lav.2		NA																	0				ovary(1)	1						c.(85-87)GGG>GAG		Ras-like without CAAX 2							128.0	126.0	127.0					18																	40695399		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40695399C>T	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.86G>A	18.37:g.40695399C>T	ENSP00000321805:p.Gly29Glu					RIT2_uc010dnf.2_Missense_Mutation_p.G29E	p.G29E	NM_002930	NP_002921	Q99578	RIT2_HUMAN			1	259	-			29			GTP (By similarity).		B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.86G>A	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996175	0.74703	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	T;T	0.78003	-1.14;-1.14	5.34	5.34	0.76211	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000016	D	0.89357	0.6692	M	0.85462	2.755	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90922	0.4784	10	0.87932	D	0	.	17.2283	0.86977	0.0:1.0:0.0:0.0	.	29;29	Q99578-2;Q99578	.;RIT2_HUMAN	E	29	ENSP00000321805:G29E;ENSP00000282028:G29E	ENSP00000282028:G29E	G	-	2	0	RIT2	38949397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.855000	0.62925	2.496000	0.84212	0.555000	0.69702	GGG		0.512	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		20	189	0	0	0	0	20	189				
SYT4	6860	broad.mit.edu	37	18	40850388	40850388	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:40850388C>G	ENST00000255224.3	-	4	1564	c.1196G>C	c.(1195-1197)gGa>gCa	p.G399A	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Missense_Mutation_p.G381A	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	399					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCCACCAGTTCCTTCTGCTGC	0.493																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NA																	0				skin(5)	5						c.(1195-1197)GGA>GCA		synaptotagmin IV							156.0	154.0	155.0					18																	40850388		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850388C>G	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1196G>C	18.37:g.40850388C>G	ENSP00000255224:p.Gly399Ala					SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.G381A|SYT4_uc010dnh.2_RNA	p.G399A	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			4	1565	-			399			Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.1196G>C	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041410	0.35989	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.71461	-0.57	5.58	5.58	0.84498	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73118	0.3546	M	0.83012	2.62	0.80722	D	1	P;P	0.52577	0.954;0.954	B;B	0.38194	0.267;0.267	T	0.77507	-0.2562	10	0.39692	T	0.17	.	19.5717	0.95423	0.0:1.0:0.0:0.0	.	381;399	B4DEU3;Q9H2B2	.;SYT4_HUMAN	A	399;204	ENSP00000255224:G399A	ENSP00000255224:G399A	G	-	2	0	SYT4	39104386	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.035000	0.70940	2.644000	0.89710	0.655000	0.94253	GGA		0.493	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		34	208	0	0	0	0	34	208				
DCC	1630	broad.mit.edu	37	18	50432611	50432611	+	Missense_Mutation	SNP	C	C	A	rs200878561		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:50432611C>A	ENST00000442544.2	+	3	1226	c.610C>A	c.(610-612)Ccg>Acg	p.P204T	DCC_ENST00000412726.1_Missense_Mutation_p.P52T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	204	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGACTCCAACCGGGGGACAT	0.502																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(610-612)CCG>ACG		netrin receptor DCC precursor							81.0	77.0	79.0					18																	50432611		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50432611C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.610C>A	18.37:g.50432611C>A	ENSP00000389140:p.Pro204Thr					DCC_uc010xdr.1_Missense_Mutation_p.P52T	p.P204T	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	3	1197	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	204			Extracellular (Potential).|Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.610C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344860	0.24426	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.39997	1.05;1.05	5.71	3.8	0.43715	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.143697	0.46442	D	0.000289	T	0.31009	0.0783	L	0.39566	1.225	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.003;0.007	T	0.09378	-1.0677	10	0.30078	T	0.28	.	8.3254	0.32153	0.2632:0.4652:0.2716:0.0	.	52;204	E7EQM8;P43146	.;DCC_HUMAN	T	204;137;52	ENSP00000389140:P204T;ENSP00000397322:P52T	ENSP00000304146:P137T	P	+	1	0	DCC	48686609	0.020000	0.18652	0.173000	0.22940	0.820000	0.46376	0.541000	0.23207	1.392000	0.46585	-0.175000	0.13238	CCG		0.502	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		7	24	1	0	0.000442599	0.000490081	7	24				
ZADH2	284273	broad.mit.edu	37	18	72914167	72914167	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:72914167G>T	ENST00000322342.3	-	2	627	c.338C>A	c.(337-339)gCc>gAc	p.A113D	ZADH2_ENST00000537114.2_5'UTR	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	113						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGTGTATCTGGCACTAGCAGA	0.542																																						uc002llx.2		NA																	0					0						c.(337-339)GCC>GAC		zinc binding alcohol dehydrogenase domain							144.0	141.0	142.0					18																	72914167		2203	4300	6503	SO:0001583	missense	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72914167G>T	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.338C>A	18.37:g.72914167G>T	ENSP00000323678:p.Ala113Asp					ZADH2_uc010dqv.2_5'UTR	p.A113D	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	606	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	113					A8KA15|B4DZ91	Missense_Mutation	SNP	ENST00000322342.3	37	c.338C>A	CCDS12008.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115997	0.37339	.	.	ENSG00000180011	ENST00000322342	T	0.04654	3.58	5.21	5.21	0.72293	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	2.911080	0.00744	N	0.001036	T	0.03959	0.0111	N	0.02539	-0.55	0.80722	D	1	B	0.14805	0.011	B	0.08055	0.003	T	0.50398	-0.8833	10	0.16420	T	0.52	-3.8165	17.1755	0.86840	0.0:0.0:1.0:0.0	.	113	Q8N4Q0	ZADH2_HUMAN	D	113	ENSP00000323678:A113D	ENSP00000323678:A113D	A	-	2	0	ZADH2	71043155	1.000000	0.71417	0.953000	0.39169	0.993000	0.82548	7.405000	0.80007	0.755000	0.32990	0.650000	0.86243	GCC		0.542	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		15	48	1	0	3.27e-08	3.85e-08	15	48				
ZNF99	7652	broad.mit.edu	37	19	22941472	22941472	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:22941472A>G	ENST00000596209.1	-	4	1329	c.1239T>C	c.(1237-1239)acT>acC	p.T413T	ZNF99_ENST00000397104.3_Silent_p.T322T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCTTATGTACAGTAAGTTTTG	0.363																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(964-966)ACT>ACC		zinc finger protein 99							44.0	46.0	46.0					19																	22941472		1993	4203	6196	SO:0001819	synonymous_variant	7652							g.chr19:22941472A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1239T>C	19.37:g.22941472A>G							p.T322T	NM_001080409	NP_001073878					5	966	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.966T>C	CCDS59369.1																																																																																				0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		15	25	0	0	0	0	15	25				
ZNF383	163087	broad.mit.edu	37	19	37733572	37733572	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:37733572C>T	ENST00000589413.1	+	8	1017	c.434C>T	c.(433-435)cCt>cTt	p.P145L	ZNF383_ENST00000590503.1_Missense_Mutation_p.P145L|ZNF383_ENST00000352998.3_Missense_Mutation_p.P145L			Q8NA42	ZN383_HUMAN	zinc finger protein 383	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATATTCACTCCTGAATACATG	0.368																																						uc002oft.1		NA																	0				ovary(1)|skin(1)	2						c.(433-435)CCT>CTT		zinc finger protein 383							84.0	90.0	88.0					19																	37733572		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37733572C>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.434C>T	19.37:g.37733572C>T	ENSP00000464871:p.Pro145Leu					ZNF383_uc002ofs.1_Missense_Mutation_p.P80L|ZNF383_uc002ofu.1_Missense_Mutation_p.P145L	p.P145L	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1014	+			145					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.434C>T	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	C	2.303	-0.359676	0.05138	.	.	ENSG00000188283	ENST00000352998	T	0.05996	3.36	4.11	-2.33	0.06724	.	0.866515	0.09394	N	0.808095	T	0.03520	0.0101	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.42682	-0.9437	10	0.41790	T	0.15	.	5.8448	0.18659	0.3483:0.4621:0.1896:0.0	.	145	Q8NA42	ZN383_HUMAN	L	145	ENSP00000340132:P145L	ENSP00000340132:P145L	P	+	2	0	ZNF383	42425412	0.009000	0.17119	0.029000	0.17559	0.816000	0.46133	-0.103000	0.10940	-0.677000	0.05231	-0.457000	0.05445	CCT		0.368	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		30	54	0	0	0	0	30	54				
RASGRP4	115727	broad.mit.edu	37	19	38903847	38903847	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:38903847C>T	ENST00000587738.1	-	11	1472	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	RASGRP4_ENST00000426920.2_Missense_Mutation_p.E279K|RASGRP4_ENST00000454404.2_Missense_Mutation_p.E434K|RASGRP4_ENST00000433821.2_Missense_Mutation_p.E376K|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E371K|RASGRP4_ENST00000587753.1_Missense_Mutation_p.E399K|RASGRP4_ENST00000586305.1_Missense_Mutation_p.E454K			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	468	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCAGCTGCTCCACATGCCGA	0.667																																						uc002oir.2		NA																	0				pancreas(1)|lung(1)|skin(1)	3						c.(1402-1404)GAG>AAG		RAS guanyl releasing protein 4 isoform a							23.0	26.0	25.0					19																	38903847		2002	4135	6137	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38903847C>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1402G>A	19.37:g.38903847C>T	ENSP00000465772:p.Glu468Lys					RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.E399K|RASGRP4_uc010xub.1_Missense_Mutation_p.E434K|RASGRP4_uc010xuc.1_Missense_Mutation_p.E376K|RASGRP4_uc010xud.1_Missense_Mutation_p.E371K|RASGRP4_uc010xue.1_Missense_Mutation_p.E279K|RASGRP4_uc010egb.2_Missense_Mutation_p.E454K	p.E468K	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		11	1616	-	all_cancers(60;4.21e-06)		468			EF-hand.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.1402G>A	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891195	0.72524	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T	0.38887	1.11;1.11;1.11	5.82	4.79	0.61399	.	0.247223	0.47455	N	0.000233	T	0.52419	0.1733	L	0.38838	1.175	0.42452	D	0.992753	D;B;B;P;B;B;P	0.69078	0.997;0.125;0.012;0.954;0.012;0.189;0.954	D;B;B;B;B;B;B	0.75020	0.985;0.118;0.012;0.437;0.012;0.155;0.437	T	0.53287	-0.8460	10	0.49607	T	0.09	-20.6103	12.5828	0.56399	0.0:0.9195:0.0:0.0805	.	279;371;376;434;399;454;468	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	K	376;371;279;468;468	ENSP00000411878:E376K;ENSP00000293062:E371K;ENSP00000445966:E279K	ENSP00000293062:E371K	E	-	1	0	RASGRP4	43595687	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	2.542000	0.45744	1.458000	0.47871	0.655000	0.94253	GAG		0.667	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		7	13	0	0	0	0	7	13				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																						uc002omp.3		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13117-13119)GCA>GCC		Fc fragment of IgG binding protein precursor							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13127	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		7	16	0	0	0	0	7	16				
ZNF404	342908	broad.mit.edu	37	19	44377455	44377455	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:44377455C>T	ENST00000587539.1	-	3	910	c.911G>A	c.(910-912)tGt>tAt	p.C304Y	ZNF404_ENST00000324394.6_Missense_Mutation_p.C302Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GGCCTTTTCACATTGTTCACA	0.368																																						uc002oxs.3		NA																	0					0						c.(901-903)TGT>TAT		zinc finger protein 404							40.0	43.0	42.0					19																	44377455		2045	4210	6255	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377455C>T	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.911G>A	19.37:g.44377455C>T	ENSP00000466051:p.Cys304Tyr						p.C301Y	NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN			2	911	-		Prostate(69;0.0352)	304			C2H2-type 7.		A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.902G>A	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969386	0.34754	.	.	ENSG00000176222	ENST00000324394	D	0.85861	-2.04	2.01	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93779	0.8011	H	0.95224	3.64	0.35333	D	0.78581	D	0.89917	1.0	D	0.97110	1.0	D	0.95984	0.8980	9	0.87932	D	0	.	11.7259	0.51710	0.0:1.0:0.0:0.0	.	304	Q494X3	ZN404_HUMAN	Y	302	ENSP00000319479:C302Y	ENSP00000319479:C302Y	C	-	2	0	ZNF404	49069295	1.000000	0.71417	0.997000	0.53966	0.296000	0.27459	6.533000	0.73829	1.421000	0.47157	0.404000	0.27445	TGT		0.368	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		5	21	0	0	0	0	5	21				
ZC3H4	23211	broad.mit.edu	37	19	47584838	47584838	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:47584838T>C	ENST00000253048.5	-	11	1409	c.1372A>G	c.(1372-1374)Atc>Gtc	p.I458V	RN7SL533P_ENST00000584468.1_RNA|ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	458							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCACCATTGATGCAGTTCCCA	0.547																																						uc002pga.3		NA																	0				skin(4)|ovary(2)	6						c.(1372-1374)ATC>GTC		zinc finger CCCH-type containing 4							140.0	140.0	140.0					19																	47584838		2059	4196	6255	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47584838T>C	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1372A>G	19.37:g.47584838T>C	ENSP00000253048:p.Ile458Val					ZC3H4_uc002pgb.1_Intron	p.I458V	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	11	1410	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	458			C3H1-type 3.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1372A>G	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488918	0.44249	.	.	ENSG00000130749	ENST00000253048	T	0.28895	1.59	5.72	4.7	0.59300	Zinc finger, CCCH-type (2);	0.121265	0.56097	N	0.000032	T	0.18841	0.0452	N	0.17474	0.49	0.38277	D	0.942325	B	0.14438	0.01	B	0.11329	0.006	T	0.07578	-1.0765	10	0.28530	T	0.3	.	10.6557	0.45673	0.0:0.0766:0.0:0.9234	.	458	Q9UPT8	ZC3H4_HUMAN	V	458	ENSP00000253048:I458V	ENSP00000253048:I458V	I	-	1	0	ZC3H4	52276678	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.727000	0.54984	0.993000	0.38866	0.533000	0.62120	ATC		0.547	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			16	26	0	0	0	0	16	26				
MED25	81857	broad.mit.edu	37	19	50334077	50334077	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:50334077G>T	ENST00000312865.6	+	9	1087	c.1034G>T	c.(1033-1035)aGt>aTt	p.S345I	MED25_ENST00000538643.1_Missense_Mutation_p.S132I	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	345	Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCCCAGCCCAGTCTGGTCTCC	0.726																																					GBM(51;894 1657 37868)	uc002ppw.1		NA																	0				ovary(1)	1						c.(1033-1035)AGT>ATT		mediator complex subunit 25							35.0	40.0	38.0					19																	50334077		2200	4296	6496	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50334077G>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1034G>T	19.37:g.50334077G>T	ENSP00000326767:p.Ser345Ile					MED25_uc010ybe.1_Missense_Mutation_p.S132I|MED25_uc002ppx.1_Missense_Mutation_p.S126I	p.S345I	NM_030973	NP_112235	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	9	1087	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	345			Pro-rich.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.1034G>T	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826713	0.50739	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	D;D	0.83837	-1.77;-1.77	5.58	2.35	0.29111	Mediator complex, subunit Med25, synapsin 1 (1);	0.440036	0.26708	N	0.022902	T	0.78578	0.4305	N	0.14661	0.345	0.37509	D	0.917075	D;D;D	0.53462	0.96;0.96;0.96	P;P;P	0.57776	0.827;0.827;0.827	T	0.80899	-0.1176	10	0.52906	T	0.07	.	10.2332	0.43266	0.2162:0.0:0.7838:0.0	.	132;345;345	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	I	345;345;345;345;345;132;80	ENSP00000326767:S345I;ENSP00000437496:S132I	ENSP00000326767:S345I	S	+	2	0	MED25	55025889	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.221000	0.32503	1.360000	0.45960	0.655000	0.94253	AGT		0.726	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		21	28	1	0	7.42e-09	8.79e-09	21	28				
ZNF611	81856	broad.mit.edu	37	19	53209236	53209236	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:53209236G>A	ENST00000319783.1	-	7	1388	c.1072C>T	c.(1072-1074)Ctt>Ttt	p.L358F	ZNF611_ENST00000453741.2_Missense_Mutation_p.L289F|ZNF611_ENST00000602162.1_Missense_Mutation_p.L289F|ZNF611_ENST00000543227.1_Missense_Mutation_p.L358F|ZNF611_ENST00000595798.1_Missense_Mutation_p.L289F|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Missense_Mutation_p.L358F	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	358					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(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGATGTGAAAGTTGTGATTGT	0.343																																						uc002pzz.2		NA																	0				ovary(1)	1						c.(1072-1074)CTT>TTT		zinc finger protein 611 isoform a							54.0	55.0	55.0					19																	53209236		2203	4299	6502	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209236G>A	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1072C>T	19.37:g.53209236G>A	ENSP00000322427:p.Leu358Phe					ZNF611_uc010eqc.2_Missense_Mutation_p.L288F|ZNF611_uc010ydo.1_Missense_Mutation_p.L288F|ZNF611_uc010ydr.1_Missense_Mutation_p.L289F|ZNF611_uc010ydp.1_Missense_Mutation_p.L358F|ZNF611_uc010ydq.1_Missense_Mutation_p.L358F|ZNF611_uc002qaa.3_Missense_Mutation_p.L288F	p.L358F	NM_030972	NP_112234	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	7	1389	-			358			C2H2-type 5.		B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1072C>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	5.659	0.306195	0.10733	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	1.69	-3.37	0.04898	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34687	0.0906	M	0.78049	2.395	0.09310	N	1	P	0.47604	0.898	P	0.52627	0.704	T	0.17745	-1.0359	9	0.52906	T	0.07	.	4.168	0.10315	0.2404:0.0:0.5871:0.1724	.	358	Q8N823	ZN611_HUMAN	F	358;358;289;358	ENSP00000437616:L358F;ENSP00000439211:L358F;ENSP00000443505:L289F;ENSP00000322427:L358F	ENSP00000322427:L358F	L	-	1	0	ZNF611	57901048	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.284000	0.18864	-1.460000	0.01911	-2.826000	0.00107	CTT		0.343	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		8	48	0	0	0	0	8	48				
POMC	5443	broad.mit.edu	37	2	25387568	25387568	+	Missense_Mutation	SNP	C	C	A	rs143923583	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:25387568C>A	ENST00000405623.1	-	2	529	c.74G>T	c.(73-75)cGt>cTt	p.R25L	POMC_ENST00000264708.3_Missense_Mutation_p.R25L|POMC_ENST00000380794.1_Missense_Mutation_p.R25L|POMC_ENST00000395826.2_Missense_Mutation_p.R25L			P01189	COLI_HUMAN	proopiomelanocortin	25					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GCACCAGCCACGCACTTCCAT	0.612																																					Colon(110;1515 1566 8452 10082 43216)	uc002rfy.1		NA																	0				ovary(1)	1						c.(73-75)CGT>CTT		proopiomelanocortin preproprotein	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						64.0	63.0	63.0					2																	25387568		2203	4300	6503	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25387568C>A		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.74G>T	2.37:g.25387568C>A	ENSP00000384092:p.Arg25Leu					POMC_uc002rfz.1_Missense_Mutation_p.R25L|POMC_uc002rga.1_Missense_Mutation_p.R25L	p.R25L	NM_001035256	NP_001030333	P01189	COLI_HUMAN			3	337	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		25					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.74G>T	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911494	0.52439	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.2	5.34	2.05	0.26809	.	0.807392	0.11790	N	0.529289	T	0.64159	0.2573	L	0.46157	1.445	0.22954	N	0.998519	B	0.31077	0.307	B	0.21151	0.033	T	0.45818	-0.9235	10	0.13853	T	0.58	-15.0005	7.6569	0.28381	0.0:0.607:0.0:0.393	.	25	P01189	COLI_HUMAN	L	25	ENSP00000370171:R25L;ENSP00000384092:R25L;ENSP00000264708:R25L;ENSP00000379170:R25L;ENSP00000387993:R25L	ENSP00000264708:R25L	R	-	2	0	POMC	25241072	0.000000	0.05858	0.984000	0.44739	0.994000	0.84299	-0.038000	0.12144	0.740000	0.32651	0.462000	0.41574	CGT		0.612	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		21	41	1	0	1.02e-10	1.23e-10	21	41				
B3GNT2	10678	broad.mit.edu	37	2	62450518	62450518	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:62450518C>G	ENST00000301998.4	+	2	1415	c.1163C>G	c.(1162-1164)tCt>tGt	p.S388C	B3GNT2_ENST00000405767.1_Missense_Mutation_p.S388C	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	388					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GATATTTGGTCTCAGTTGCAG	0.323																																						uc002sbs.2		NA																	0				ovary(1)	1						c.(1162-1164)TCT>TGT		UDP-GlcNAc:betaGal							43.0	46.0	45.0					2																	62450518		2201	4299	6500	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62450518C>G	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.1163C>G	2.37:g.62450518C>G	ENSP00000305595:p.Ser388Cys						p.S388C	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	1401	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		388			Lumenal (Potential).		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.1163C>G	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137908	0.56936	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.28069	1.63;1.63	5.54	5.54	0.83059	.	0.279890	0.41712	D	0.000835	T	0.44052	0.1275	L	0.59436	1.845	0.40318	D	0.978791	D	0.61080	0.989	P	0.50082	0.63	T	0.43782	-0.9370	10	0.66056	D	0.02	.	19.4986	0.95083	0.0:1.0:0.0:0.0	.	388	Q9NY97	B3GN2_HUMAN	C	388	ENSP00000305595:S388C;ENSP00000384692:S388C	ENSP00000305595:S388C	S	+	2	0	B3GNT2	62304022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.573000	0.53856	2.598000	0.87819	0.650000	0.86243	TCT		0.323	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		6	28	0	0	0	0	6	28				
SLC35F5	80255	broad.mit.edu	37	2	114476737	114476737	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:114476737A>T	ENST00000245680.2	-	14	1903	c.1490T>A	c.(1489-1491)aTt>aAt	p.I497N	MIR4782_ENST00000577987.1_RNA|SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	497					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TTACCTCTGAATTCGATGTTT	0.333																																						uc002tku.1		NA																	0					0						c.(1489-1491)ATT>AAT		solute carrier family 35, member F5							72.0	72.0	72.0					2																	114476737		2202	4299	6501	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114476737A>T	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1490T>A	2.37:g.114476737A>T	ENSP00000245680:p.Ile497Asn					SLC35F5_uc002tkt.2_RNA	p.I497N	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN			14	1914	-			497					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.1490T>A	CCDS2119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.08|17.08	3.298016|3.298016	0.60086|0.60086	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000420066|ENST00000245680;ENST00000409106	.|T;T	.|0.48836	.|0.8;0.81	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.125717	.|0.52532	.|D	.|0.000070	T|T	0.47060|0.47060	0.1425|0.1425	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	.|P	.|0.50943	.|0.94	.|P	.|0.48030	.|0.564	T|T	0.36672|0.36672	-0.9738|-0.9738	5|10	.|0.31617	.|T	.|0.26	-15.9918|-15.9918	15.5084|15.5084	0.75760|0.75760	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|497	.|Q8WV83	.|S35F5_HUMAN	I|N	29|497;491	.|ENSP00000245680:I497N;ENSP00000386754:I491N	.|ENSP00000245680:I497N	F|I	-|-	1|2	0|0	SLC35F5|SLC35F5	114193207|114193207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	4.975000|4.975000	0.63777|0.63777	2.054000|2.054000	0.61138|0.61138	0.533000|0.533000	0.62120|0.62120	TTC|ATT		0.333	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		6	30	0	0	0	0	6	30				
LRP1B	53353	broad.mit.edu	37	2	140990803	140990803	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:140990803T>A	ENST00000389484.3	-	91	14723	c.13752A>T	c.(13750-13752)gaA>gaT	p.E4584D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4584					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGGAAGCAGTTCTTTCCTTT	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13750-13752)GAA>GAT		low density lipoprotein-related protein 1B							104.0	107.0	106.0					2																	140990803		2201	4299	6500	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990803T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13752A>T	2.37:g.140990803T>A	ENSP00000374135:p.Glu4584Asp	TSP Lung(27;0.18)					p.E4584D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	91	14724	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4584			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13752A>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.99|14.99	2.698904|2.698904	0.48307|0.48307	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.50813|.	0.73|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	T|T	0.64349|0.64349	0.2590|0.2590	L|L	0.49455|0.49455	1.56|1.56	0.39450|0.39450	D|D	0.967385|0.967385	D|.	0.69078|.	0.997|.	D|.	0.72625|.	0.978|.	T|T	0.63519|0.63519	-0.6619|-0.6619	10|5	0.48119|.	T|.	0.1|.	.|.	15.9456|15.9456	0.79789|0.79789	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4584|.	Q9NZR2|.	LRP1B_HUMAN|.	D|I	4584;4522|783	ENSP00000374135:E4584D|.	ENSP00000374135:E4584D|.	E|N	-|-	3|2	2|0	LRP1B|LRP1B	140707273|140707273	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.821000|5.821000	0.69257|0.69257	2.167000|2.167000	0.68274|0.68274	0.477000|0.477000	0.44152|0.44152	GAA|AAC		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	28	0	0	0	0	7	28				
RIF1	55183	broad.mit.edu	37	2	152276855	152276855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:152276855C>T	ENST00000243326.5	+	6	1138	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	RIF1_ENST00000433166.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.Q219*			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAGAAACAGCAAGAAATAGC	0.413																																						uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(655-657)CAA>TAA		RAP1 interacting factor 1							100.0	85.0	90.0					2																	152276855		2203	4300	6503	SO:0001587	stop_gained	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152276855C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.655C>T	2.37:g.152276855C>T	ENSP00000243326:p.Gln219*					RIF1_uc002txl.2_Nonsense_Mutation_p.Q219*|RIF1_uc010fnv.1_Nonsense_Mutation_p.Q183*|RIF1_uc002txn.2_Nonsense_Mutation_p.Q219*|RIF1_uc002txo.2_Nonsense_Mutation_p.Q219*|RIF1_uc010zby.1_RNA	p.Q219*	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	7	785	+			219					A0AVS0|Q9NS16	Nonsense_Mutation	SNP	ENST00000243326.5	37	c.655C>T	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.607676|4.607676	0.87157|0.87157	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.302944	.|0.36815	.|N	.|0.002383	T|.	0.79851|.	0.4517|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77627|.	-0.2517|.	3|.	.|0.44086	.|T	.|0.13	-5.1449|-5.1449	19.858|19.858	0.96771|0.96771	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	210|219	.|.	.|ENSP00000243326:Q219X	A|Q	+|+	2|1	0|0	RIF1|RIF1	151985101|151985101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.663000|3.663000	0.54518|0.54518	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GCA|CAA		0.413	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			4	30	0	0	0	0	4	30				
GALNT13	114805	broad.mit.edu	37	2	155252510	155252510	+	Silent	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:155252510C>T	ENST00000392825.3	+	10	1731	c.1164C>T	c.(1162-1164)gtC>gtT	p.V388V	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.V388V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	388					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAGGTGTTGTCAAAGTGGATT	0.353																																						uc002tyr.3		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1162-1164)GTC>GTT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							73.0	67.0	69.0					2																	155252510		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155252510C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1164C>T	2.37:g.155252510C>T						GALNT13_uc002tyt.3_Silent_p.V388V|GALNT13_uc010foc.1_Silent_p.V207V|GALNT13_uc010fod.2_Silent_p.V141V	p.V388V	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			10	1731	+			388			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.1164C>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974349	0.18736	.	.	ENSG00000144278	ENST00000450838	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5694	0.27898	0.0:0.7429:0.1682:0.0889	.	.	.	.	X	7	.	.	Q	+	1	0	GALNT13	154960756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.433000	0.34947	2.492000	0.84095	0.650000	0.86243	CAA		0.353	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		8	12	0	0	0	0	8	12				
ARMC9	80210	broad.mit.edu	37	2	232079577	232079577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:232079577C>T	ENST00000349938.4	+	4	405	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	71						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CAACGGAGACCAGAAGGTGTT	0.463																																						uc002vrq.3		NA																	0				ovary(1)	1						c.(211-213)CAG>TAG		armadillo repeat containing 9							144.0	128.0	134.0					2																	232079577		2203	4300	6503	SO:0001587	stop_gained	80210						binding	g.chr2:232079577C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.211C>T	2.37:g.232079577C>T	ENSP00000258417:p.Gln71*					ARMC9_uc002vrp.3_Nonsense_Mutation_p.Q71*	p.Q71*	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	4	323	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	71					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Nonsense_Mutation	SNP	ENST00000349938.4	37	c.211C>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	37	6.254714	0.97417	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	.	.	.	5.81	5.81	0.92471	.	0.445354	0.24808	N	0.035435	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-25.9816	14.8547	0.70326	0.1437:0.8563:0.0:0.0	.	.	.	.	X	71	.	ENSP00000258417:Q71X	Q	+	1	0	ARMC9	231787821	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	3.755000	0.55197	2.737000	0.93849	0.650000	0.86243	CAG		0.463	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		11	28	0	0	0	0	11	28				
TTC3	7267	broad.mit.edu	37	21	38567994	38567994	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr21:38567994C>T	ENST00000399017.2	+	42	7983	c.5236C>T	c.(5236-5238)Cct>Tct	p.P1746S	TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000354749.2_Missense_Mutation_p.P1746S|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.P1746S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1746					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CGAGTTACTCCCTGAGTCTTC	0.532																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(5236-5238)CCT>TCT		tetratricopeptide repeat domain 3							244.0	253.0	250.0					21																	38567994		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38567994C>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5236C>T	21.37:g.38567994C>T	ENSP00000381981:p.Pro1746Ser					TTC3_uc002ywa.2_Missense_Mutation_p.P1746S|TTC3_uc002ywb.2_Missense_Mutation_p.P1746S|TTC3_uc010gnf.2_Missense_Mutation_p.P1511S|TTC3_uc002ywc.2_Missense_Mutation_p.P1436S	p.P1746S	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			42	5341	+		Myeloproliferative disorder(46;0.0412)	1746					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.5236C>T	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.827|7.827	0.719118|0.719118	0.15372|0.15372	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000428693|ENST00000355666;ENST00000399017;ENST00000354749	.|T;T;T	.|0.08008	.|3.14;3.14;3.14	4.72|4.72	0.643|0.643	0.17770|0.17770	.|.	0.413030|0.413030	0.20641|0.20641	N|N	0.088414|0.088414	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.25890|0.25890	0.77|0.77	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.38222|0.38222	-0.9671|-0.9671	6|10	.|0.27785	.|T	.|0.31	-0.3746|-0.3746	1.5703|1.5703	0.02613|0.02613	0.171:0.4722:0.166:0.1908|0.171:0.4722:0.166:0.1908	.|.	.|1746	.|P53804	.|TTC3_HUMAN	L|S	37|1746	.|ENSP00000347889:P1746S;ENSP00000381981:P1746S;ENSP00000346791:P1746S	.|ENSP00000346791:P1746S	P|P	+|+	2|1	0|0	TTC3|TTC3	37489864|37489864	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.292000|-0.292000	0.08332|0.08332	-0.084000|-0.084000	0.12595|0.12595	-0.261000|-0.261000	0.10672|0.10672	CCC|CCT		0.532	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			39	145	0	0	0	0	39	145				
UMODL1	89766	broad.mit.edu	37	21	43547902	43547902	+	Silent	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr21:43547902C>A	ENST00000408910.2	+	20	3651	c.3651C>A	c.(3649-3651)ctC>ctA	p.L1217L	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Silent_p.L1273L|UMODL1_ENST00000408989.2_Silent_p.L1345L|UMODL1_ENST00000400424.2_Silent_p.L1145L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1217	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTGCAAACTCCGCGTCTGCA	0.468																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NA																	0				ovary(2)|skin(1)	3						c.(3649-3651)CTC>CTA		uromodulin-like 1 isoform 1 precursor							126.0	123.0	124.0					21																	43547902		2002	4172	6174	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547902C>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3651C>A	21.37:g.43547902C>A						UMODL1_uc002zad.1_Silent_p.L1145L|UMODL1_uc002zae.1_Silent_p.L1273L|UMODL1_uc002zag.1_Silent_p.L1345L|UMODL1_uc002zal.1_Silent_p.L167L|UMODL1_uc010gpa.1_RNA	p.L1217L	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			20	3651	+			1217			Extracellular (Potential).|ZP.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.3651C>A	CCDS42936.1																																																																																				0.468	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			7	33	1	0	0.00198382	0.00213927	7	33				
POTEH	23784	broad.mit.edu	37	22	16267045	16267045	+	Silent	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr22:16267045T>C	ENST00000343518.6	-	9	1455	c.1404A>G	c.(1402-1404)gaA>gaG	p.E468E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	468										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TAGTCAGGTTTTCTGGGAATC	0.403																																						uc010gqp.2		NA																	0				skin(1)	1						c.(1402-1404)GAA>GAG		ANKRD26-like family C, member 3							567.0	459.0	492.0					22																	16267045		692	1591	2283	SO:0001819	synonymous_variant	23784							g.chr22:16267045T>C	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1404A>G	22.37:g.16267045T>C						POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Silent_p.E187E|POTEH_uc002zlj.1_Silent_p.E303E	p.E468E	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			9	1456	-			468					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.1404A>G	CCDS46658.1																																																																																				0.403	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		42	197	0	0	0	0	42	197				
TOM1	10043	broad.mit.edu	37	22	35726367	35726367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr22:35726367C>T	ENST00000449058.2	+	8	918	c.793C>T	c.(793-795)Cag>Tag	p.Q265*	TOM1_ENST00000436462.2_Nonsense_Mutation_p.Q227*|TOM1_ENST00000411850.1_Nonsense_Mutation_p.Q265*|TOM1_ENST00000447733.1_Nonsense_Mutation_p.Q232*|TOM1_ENST00000425375.1_Nonsense_Mutation_p.Q220*|TOM1_ENST00000382034.5_Nonsense_Mutation_p.Q198*	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	265	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGAGCCATGCAGCAGCGGGT	0.542																																						uc003ann.2		NA																	0				ovary(1)	1						c.(793-795)CAG>TAG		target of myb1 isoform 1							132.0	109.0	117.0					22																	35726367		2203	4300	6503	SO:0001587	stop_gained	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35726367C>T	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.793C>T	22.37:g.35726367C>T	ENSP00000394466:p.Gln265*					TOM1_uc011ami.1_Nonsense_Mutation_p.Q232*|TOM1_uc011amj.1_Nonsense_Mutation_p.Q108*|TOM1_uc003ans.2_Nonsense_Mutation_p.Q108*|TOM1_uc011amk.1_Nonsense_Mutation_p.Q227*|TOM1_uc003anp.2_Nonsense_Mutation_p.Q265*|TOM1_uc011aml.1_Nonsense_Mutation_p.Q220*|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Nonsense_Mutation_p.Q259*|TOM1_uc003anr.2_Nonsense_Mutation_p.Q108*	p.Q265*	NM_005488	NP_005479	O60784	TOM1_HUMAN			8	918	+			265			GAT.		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Nonsense_Mutation	SNP	ENST00000449058.2	37	c.793C>T	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	c	38	7.195707	0.98129	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000412456;ENST00000451197;ENST00000436462;ENST00000382034	.	.	.	5.19	5.19	0.71726	.	0.051568	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	1.1413	19.0969	0.93255	0.0:1.0:0.0:0.0	.	.	.	.	X	232;259;265;265;220;2;274;227;198	.	ENSP00000371465:Q198X	Q	+	1	0	TOM1	34056367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.002000	0.70693	2.575000	0.86900	0.552000	0.68991	CAG		0.542	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		32	67	0	0	0	0	32	67				
EMC3	55831	broad.mit.edu	37	3	10049172	10049172	+	lincRNA	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr3:10049172C>G	ENST00000383808.2	-	0	826				AC034193.5_ENST00000326237.3_RNA																							ATTGGCCTTTCTGCTTCGATG	0.582																																						uc003bur.1		NA																	0					0						c.(211-213)CAG>CAC		hypothetical protein LOC401052							134.0	131.0	132.0					3																	10049172		1976	4146	6122			401052							g.chr3:10049172C>G																													3.37:g.10049172C>G						CIDEC_uc003bto.2_Intron	p.Q71H	NM_001008737	NP_001008737	B3KMQ7	B3KMQ7_HUMAN			4	827	-			71						Missense_Mutation	SNP	ENST00000383808.2	37	c.213G>C																																																																																					0.582	AC022007.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339469.1			37	54	0	0	0	0	37	54				
PLCL2	23228	broad.mit.edu	37	3	17052602	17052602	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr3:17052602A>C	ENST00000418129.2	+	2	1851	c.1386A>C	c.(1384-1386)gaA>gaC	p.E462D	PLCL2_ENST00000396755.2_Missense_Mutation_p.E462D|PLCL2_ENST00000432376.1_Missense_Mutation_p.E462D	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	588	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACGAAGATGAAGGAGCAGAAA	0.433																																						uc011awc.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(1738-1740)GAA>GAC		phospholipase C-like 2 isoform 1							66.0	65.0	66.0					3																	17052602		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052602A>C	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1386A>C	3.37:g.17052602A>C	ENSP00000409637:p.Glu462Asp					PLCL2_uc011awd.1_Missense_Mutation_p.E462D	p.E580D	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	1845	+			588					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1740A>C	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.633|9.633	1.136808|1.136808	0.21123|0.21123	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376|ENST00000419842	T;T;T|.	0.52983|.	0.64;0.64;0.64|.	5.63|5.63	1.96|1.96	0.26148|0.26148	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57198|0.57198	0.2037|0.2037	.|.	.|.	.|.	0.52099|0.52099	D|D	0.999944|0.999944	P|.	0.45283|.	0.855|.	P|.	0.48334|.	0.574|.	T|T	0.48068|0.48068	-0.9067|-0.9067	9|4	0.52906|.	T|.	0.07|.	.|.	8.6339|8.6339	0.33936|0.33936	0.7214:0.0:0.2786:0.0|0.7214:0.0:0.2786:0.0	.|.	588|.	Q9UPR0|.	PLCL2_HUMAN|.	D|T	462;589;462;462|206	ENSP00000409637:E462D;ENSP00000379979:E462D;ENSP00000412836:E462D|.	ENSP00000285094:E589D|.	E|K	+|+	3|2	2|0	PLCL2|PLCL2	17027606|17027606	0.970000|0.970000	0.33590|0.33590	0.994000|0.994000	0.49952|0.49952	0.192000|0.192000	0.23643|0.23643	0.295000|0.295000	0.19065|0.19065	0.101000|0.101000	0.17610|0.17610	-0.256000|-0.256000	0.11100|0.11100	GAA|AAG		0.433	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			10	9	0	0	0	0	10	9				
UPK1B	7348	broad.mit.edu	37	3	118905597	118905597	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr3:118905597A>T	ENST00000264234.3	+	2	158	c.9A>T	c.(7-9)aaA>aaT	p.K3N	RP11-484M3.5_ENST00000490594.1_Intron|UPK1B_ENST00000497685.1_Intron|UPK1B_ENST00000460625.1_Missense_Mutation_p.K3N	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	3					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		AGATGGCCAAAGACAACTCAA	0.418																																						uc003ecc.2		NA																	0					0						c.(7-9)AAA>AAT		uroplakin 1B							167.0	152.0	157.0					3																	118905597		2203	4300	6503	SO:0001583	missense	7348				epithelial cell differentiation	integral to membrane	structural molecule activity	g.chr3:118905597A>T	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.9A>T	3.37:g.118905597A>T	ENSP00000264234:p.Lys3Asn					UPK1B_uc011bix.1_Intron|UPK1B_uc003ecd.2_Missense_Mutation_p.K3N	p.K3N	NM_006952	NP_008883	O75841	UPK1B_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	2	98	+			3			Cytoplasmic (Potential).		O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	ENST00000264234.3	37	c.9A>T	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089011	0.76756	.	.	ENSG00000114638	ENST00000264234;ENST00000479520;ENST00000494855;ENST00000460625	T;T;T;T	0.14144	3.03;2.53;2.86;3.18	5.5	-0.809	0.10864	.	0.071433	0.64402	D	0.000020	T	0.21103	0.0508	L	0.40543	1.245	0.39702	D	0.971208	D;D	0.71674	0.998;0.998	D;D	0.73708	0.981;0.981	T	0.01743	-1.1283	10	0.27785	T	0.31	-7.0041	10.22	0.43192	0.5532:0.0:0.4468:0.0	.	3;3	C9J9M7;O75841	.;UPK1B_HUMAN	N	3	ENSP00000264234:K3N;ENSP00000418399:K3N;ENSP00000418597:K3N;ENSP00000418116:K3N	ENSP00000264234:K3N	K	+	3	2	UPK1B	120388287	0.999000	0.42202	0.998000	0.56505	0.967000	0.64934	0.578000	0.23773	0.072000	0.16694	0.455000	0.32223	AAA		0.418	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2			25	25	0	0	0	0	25	25				
ZNF721	170960	broad.mit.edu	37	4	436033	436033	+	Silent	SNP	G	G	A	rs186091133	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:436033G>A	ENST00000338977.5	-	2	2235	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.N741N			Q8TF20	ZN721_HUMAN	zinc finger protein 721	729					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTTATATTCGTTCAGGTTTG	0.388													A|||	5	0.000998403	0.003	0.0014	5008	,	,		20875	0.0		0.0	False		,,,				2504	0.0					uc003gag.2		NA																	0				ovary(1)	1						c.(2221-2223)AAC>AAT		zinc finger protein 721		A		16,3964		0,16,1974	35.0	36.0	36.0		2223	1.3	0.0	4		36	0,8348		0,0,4174	no	coding-synonymous	ZNF721	NM_133474.2		0,16,6148	AA,AG,GG		0.0,0.402,0.1298		741/924	436033	16,12312	1990	4174	6164	SO:0001819	synonymous_variant	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:436033G>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2187C>T	4.37:g.436033G>A						ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.N773N|ZNF721_uc010ibe.2_Silent_p.N729N	p.N741N	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	2914	-			741					Q69YG7	Silent	SNP	ENST00000338977.5	37	c.2223C>T																																																																																					0.388	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		3	11	0	0	0	0	3	11				
DDX60	55601	broad.mit.edu	37	4	169188752	169188752	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:169188752G>A	ENST00000393743.3	-	22	3311	c.3020C>T	c.(3019-3021)gCt>gTt	p.A1007V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1007					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGTTAGTGCAGCACATGGGTG	0.289																																						uc003irp.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3019-3021)GCT>GTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							108.0	98.0	101.0					4																	169188752		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169188752G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3020C>T	4.37:g.169188752G>A	ENSP00000377344:p.Ala1007Val						p.A1007V	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	22	3312	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1007					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.3020C>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904609	0.52333	.	.	ENSG00000137628	ENST00000393743;ENST00000537338	T	0.23147	1.92	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000006	T	0.56601	0.1996	M	0.83603	2.65	0.40632	D	0.98186	D	0.89917	1.0	D	0.79108	0.992	T	0.63373	-0.6652	10	0.72032	D	0.01	.	18.7459	0.91792	0.0:0.0:1.0:0.0	.	1007	Q8IY21	DDX60_HUMAN	V	1007;99	ENSP00000377344:A1007V	ENSP00000377344:A1007V	A	-	2	0	DDX60	169425327	1.000000	0.71417	0.967000	0.41034	0.060000	0.15804	4.497000	0.60367	2.599000	0.87857	0.563000	0.77884	GCT		0.289	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		11	38	0	0	0	0	11	38				
TRAPPC11	60684	broad.mit.edu	37	4	184626159	184626159	+	Silent	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:184626159C>A	ENST00000334690.6	+	27	3193	c.2991C>A	c.(2989-2991)atC>atA	p.I997I	TRAPPC11_ENST00000512476.1_Silent_p.I603I|RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000357207.4_Silent_p.I997I	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	997					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											ATATCCCCATCATCACAACTG	0.393																																						uc003ivx.2		NA																	0					0						c.(2989-2991)ATC>ATA		hypothetical protein LOC60684 isoform a							182.0	170.0	174.0					4																	184626159		2203	4300	6503	SO:0001819	synonymous_variant	60684							g.chr4:184626159C>A		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2991C>A	4.37:g.184626159C>A						C4orf41_uc003ivw.2_Silent_p.I997I|C4orf41_uc010isc.2_Silent_p.I341I|C4orf41_uc003ivy.2_Silent_p.I603I	p.I997I	NM_021942	NP_068761	Q7Z392	CD041_HUMAN		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)	27	3167	+		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	997					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.2991C>A	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	C	1.134	-0.651678	0.03506	.	.	ENSG00000168538	ENST00000360109	.	.	.	4.94	4.03	0.46877	.	.	.	.	.	T	0.37652	0.1011	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18903	-1.0322	5	0.15066	T	0.55	.	3.5873	0.07975	0.0:0.5524:0.2332:0.2144	.	.	.	.	N	978	.	ENSP00000353223:H978N	H	+	1	0	C4orf41	184863153	0.555000	0.26530	0.843000	0.33291	0.083000	0.17756	-0.158000	0.10070	2.295000	0.77249	0.563000	0.77884	CAT		0.393	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		35	85	1	0	2.95e-19	3.68e-19	35	85				
SORBS2	8470	broad.mit.edu	37	4	186545478	186545478	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:186545478C>A	ENST00000284776.7	-	13	1602	c.1093G>T	c.(1093-1095)Gca>Tca	p.A365S	SORBS2_ENST00000355634.5_Missense_Mutation_p.A465S|SORBS2_ENST00000431808.1_Missense_Mutation_p.A365S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.A269S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	365					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGATTTCTGCGTTTTGCCGG	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	0				ovary(1)	1						c.(1093-1095)GCA>TCA		sorbin and SH3 domain containing 2 isoform 2							68.0	68.0	68.0					4																	186545478		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545478C>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1093G>T	4.37:g.186545478C>A	ENSP00000284776:p.Ala365Ser					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.A465S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.A269S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.A479S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.A365S	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	1951	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	365					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1093G>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413093	0.62511	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.40225	1.16;1.16;1.04;1.15	6.0	6.0	0.97389	.	0.105878	0.64402	D	0.000006	T	0.59197	0.2176	L	0.42245	1.32	0.44562	D	0.997522	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.994;0.952	T	0.47959	-0.9076	10	0.32370	T	0.25	-22.526	20.5753	0.99366	0.0:1.0:0.0:0.0	.	269;465;365	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	365;365;269;465	ENSP00000284776:A365S;ENSP00000411764:A365S;ENSP00000397482:A269S;ENSP00000347852:A465S	ENSP00000284776:A365S	A	-	1	0	SORBS2	186782472	1.000000	0.71417	0.973000	0.42090	0.969000	0.65631	4.770000	0.62309	2.869000	0.98440	0.558000	0.71614	GCA		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		19	52	1	0	2.38e-13	2.9e-13	19	52				
KLKB1	3818	broad.mit.edu	37	4	187179174	187179174	+	Splice_Site	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:187179174G>T	ENST00000264690.6	+	15	1912		c.e15-1		KLKB1_ENST00000513864.1_Splice_Site	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGTGACTCAGGGAGATTCAG	0.478																																						uc003iyy.2		NA																	0				ovary(1)	1						c.e15-1		plasma kallikrein B1 precursor							81.0	80.0	80.0					4																	187179174		2203	4300	6503	SO:0001630	splice_region_variant	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187179174G>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1726-1G>T	4.37:g.187179174G>T						KLKB1_uc011clc.1_Splice_Site_p.G374_splice|KLKB1_uc011cld.1_Splice_Site_p.G491_splice	p.G576_splice	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	15	1797	+		all_cancers(14;1.55e-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;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)						A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Splice_Site	SNP	ENST00000264690.6	37	c.1726_splice	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556277	0.45487	.	.	ENSG00000164344	ENST00000511608;ENST00000264690;ENST00000513864;ENST00000418715	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLKB1	187416168	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	9.864000	0.99589	2.802000	0.96397	0.563000	0.77884	.		0.478	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	Intron	16	43	1	0	2e-07	2.3e-07	16	43				
IRX1	79192	broad.mit.edu	37	5	3601102	3601102	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:3601102T>C	ENST00000302006.3	+	4	1443	c.1391T>C	c.(1390-1392)cTg>cCg	p.L464P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	464					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAGCTCTCTGGCCCCGCAG	0.662																																						uc003jde.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1390-1392)CTG>CCG		iroquois homeobox protein 1							49.0	53.0	52.0					5																	3601102		2202	4300	6502	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3601102T>C	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1391T>C	5.37:g.3601102T>C	ENSP00000305244:p.Leu464Pro						p.L464P	NM_024337	NP_077313	P78414	IRX1_HUMAN			4	1443	+			464					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1391T>C	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144148	0.37825	.	.	ENSG00000170549	ENST00000302006	T	0.59364	0.27	4.77	3.61	0.41365	.	0.543707	0.17184	U	0.183776	T	0.61640	0.2363	L	0.51422	1.61	0.58432	D	0.999995	D	0.61697	0.99	P	0.54664	0.758	T	0.58346	-0.7652	10	0.46703	T	0.11	.	10.0673	0.42311	0.0:0.0799:0.0:0.9201	.	464	P78414	IRX1_HUMAN	P	464	ENSP00000305244:L464P	ENSP00000305244:L464P	L	+	2	0	IRX1	3654102	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	4.362000	0.59467	0.686000	0.31488	0.533000	0.62120	CTG		0.662	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		14	53	0	0	0	0	14	53				
PRDM9	56979	broad.mit.edu	37	5	23522415	23522415	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:23522415C>G	ENST00000296682.3	+	7	693	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	171					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAACCTAGAACTCAGGAAGAA	0.433										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(511-513)CTC>GTC		PR domain containing 9							126.0	128.0	127.0					5																	23522415		1881	4129	6010	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522415C>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.511C>G	5.37:g.23522415C>G	ENSP00000296682:p.Leu171Val	HNSCC(3;0.000094)					p.L171V	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			7	693	+			171					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.511C>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871758	0.33069	.	.	ENSG00000164256	ENST00000296682	T	0.08546	3.08	3.63	1.69	0.24217	SSXRD motif (1);	.	.	.	.	T	0.09158	0.0226	L	0.27053	0.805	0.09310	N	1	D	0.55605	0.972	P	0.51266	0.664	T	0.25257	-1.0137	9	0.87932	D	0	0.0038	5.3299	0.15926	0.0:0.6664:0.2088:0.1249	.	171	Q9NQV7	PRDM9_HUMAN	V	171	ENSP00000296682:L171V	ENSP00000296682:L171V	L	+	1	0	PRDM9	23558172	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.434000	0.21494	0.258000	0.21686	-0.347000	0.07816	CTC		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		26	93	0	0	0	0	26	93				
CDH10	1008	broad.mit.edu	37	5	24505331	24505331	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:24505331A>T	ENST00000264463.4	-	8	1790	c.1283T>A	c.(1282-1284)cTt>cAt	p.L428H		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATTCTGTCAAGGTCAGTATG	0.358										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1282-1284)CTT>CAT		cadherin 10, type 2 preproprotein							94.0	91.0	92.0					5																	24505331		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24505331A>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1283T>A	5.37:g.24505331A>T	ENSP00000264463:p.Leu428His	HNSCC(23;0.051)				CDH10_uc011cnu.1_Intron	p.L428H	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	8	1615	-			428			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1283T>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050141	0.75846	.	.	ENSG00000040731	ENST00000264463	T	0.60672	0.17	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.131296	0.50627	D	0.000105	T	0.72819	0.3508	M	0.66297	2.02	0.47123	D	0.99932	D	0.65815	0.995	D	0.69142	0.962	T	0.73357	-0.4008	10	0.44086	T	0.13	.	14.9114	0.70761	1.0:0.0:0.0:0.0	.	428	Q9Y6N8	CAD10_HUMAN	H	428	ENSP00000264463:L428H	ENSP00000264463:L428H	L	-	2	0	CDH10	24541088	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.725000	0.91468	2.102000	0.63906	0.533000	0.62120	CTT		0.358	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		17	35	0	0	0	0	17	35				
PRKAA1	5562	broad.mit.edu	37	5	40767661	40767661	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:40767661T>C	ENST00000397128.2	-	6	736	c.728A>G	c.(727-729)tAt>tGt	p.Y243C	PRKAA1_ENST00000354209.3_Missense_Mutation_p.Y258C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTGAGGGGTATAGAAGATCCC	0.388																																						uc003jmc.2		NA																	0				breast(1)	1						c.(727-729)TAT>TGT		protein kinase, AMP-activated, alpha 1 catalytic	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						115.0	107.0	110.0					5																	40767661		1839	4100	5939	SO:0001583	missense	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40767661T>C		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.728A>G	5.37:g.40767661T>C	ENSP00000380317:p.Tyr243Cys					PRKAA1_uc003jmb.2_Missense_Mutation_p.Y258C	p.Y243C	NM_006251	NP_006242	Q13131	AAPK1_HUMAN			6	734	-			243			Protein kinase.		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	37	c.728A>G	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883449	0.72410	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	T;T	0.65364	-0.15;-0.15	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051889	0.85682	D	0.000000	T	0.69468	0.3114	L	0.37561	1.115	0.80722	D	1	D;D	0.64830	0.994;0.993	P;D	0.64144	0.8;0.922	T	0.68720	-0.5334	10	0.39692	T	0.17	-17.7374	15.9962	0.80250	0.0:0.0:0.0:1.0	.	243;258	Q13131;Q13131-2	AAPK1_HUMAN;.	C	243;258	ENSP00000380317:Y243C;ENSP00000346148:Y258C	ENSP00000346148:Y258C	Y	-	2	0	AC008810.1	40803418	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.911000	0.63328	2.180000	0.69256	0.459000	0.35465	TAT		0.388	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		15	79	0	0	0	0	15	79				
PCDHA3	56145	broad.mit.edu	37	5	140182317	140182317	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:140182317C>A	ENST00000522353.2	+	1	1535	c.1535C>A	c.(1534-1536)gCg>gAg	p.A512E	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512E|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTACACGCGGAGAGCGGC	0.706																																						uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(1534-1536)GCG>GAG		protocadherin alpha 3 isoform 1 precursor							76.0	78.0	77.0					5																	140182317		2203	4299	6502	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182317C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1535C>A	5.37:g.140182317C>A	ENSP00000429808:p.Ala512Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A512E	p.A512E	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1535	+			512			Cadherin 5.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1535C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	18.39	3.614454	0.66672	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50277	0.75;0.75	4.75	3.86	0.44501	Cadherin (4);Cadherin-like (1);	0.183399	0.25355	U	0.031265	T	0.49508	0.1561	N	0.12502	0.225	0.24245	N	0.995348	D;D	0.71674	0.998;0.994	D;D	0.67725	0.953;0.918	T	0.51702	-0.8672	10	0.66056	D	0.02	.	15.1255	0.72481	0.0:0.8576:0.1424:0.0	.	512;512	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	E	512	ENSP00000429808:A512E;ENSP00000434086:A512E	ENSP00000429808:A512E	A	+	2	0	PCDHA3	140162501	0.000000	0.05858	1.000000	0.80357	0.881000	0.50899	1.074000	0.30703	1.104000	0.41587	0.461000	0.40582	GCG		0.706	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		42	41	1	0	2.25e-16	2.79e-16	42	41				
ZNF354C	30832	broad.mit.edu	37	5	178505981	178505981	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:178505981T>C	ENST00000315475.6	+	5	854	c.548T>C	c.(547-549)aTa>aCa	p.I183T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AGTGTTCCTATAGAAAGGATA	0.358																																						uc003mju.2		NA																	0				ovary(1)	1						c.(547-549)ATA>ACA		zinc finger protein 354C							68.0	73.0	71.0					5																	178505981		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178505981T>C		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.548T>C	5.37:g.178505981T>C	ENSP00000324064:p.Ile183Thr						p.I183T	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	663	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	183					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.548T>C	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.329597	0.01298	.	.	ENSG00000177932	ENST00000315475	T	0.04917	3.53	3.94	-7.89	0.01174	.	.	.	.	.	T	0.00998	0.0033	N	0.00265	-1.74	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35798	-0.9774	9	0.02654	T	1	-0.2103	4.8066	0.13323	0.1101:0.47:0.1118:0.3081	.	183	Q86Y25	Z354C_HUMAN	T	183	ENSP00000324064:I183T	ENSP00000324064:I183T	I	+	2	0	ZNF354C	178438587	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	-0.831000	0.04405	-1.841000	0.01183	-0.353000	0.07706	ATA		0.358	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			18	19	0	0	0	0	18	19				
FAM83B	222584	broad.mit.edu	37	6	54804723	54804723	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr6:54804723C>G	ENST00000306858.7	+	5	1070	c.954C>G	c.(952-954)agC>agG	p.S318R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	318										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTGTTTCCAGCCAGAGAAACC	0.388																																						uc003pck.2		NA																	0				ovary(6)	6						c.(952-954)AGC>AGG		hypothetical protein LOC222584							88.0	88.0	88.0					6																	54804723		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54804723C>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.954C>G	6.37:g.54804723C>G	ENSP00000304078:p.Ser318Arg						p.S318R	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	1070	+	Lung NSC(77;0.0178)|Renal(3;0.122)		318					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.954C>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649361	0.47362	.	.	ENSG00000168143	ENST00000306858	T	0.12361	2.69	5.42	4.55	0.56014	.	0.123126	0.64402	D	0.000018	T	0.22936	0.0554	M	0.73598	2.24	0.47949	D	0.999556	D	0.71674	0.998	D	0.63488	0.915	T	0.02031	-1.1226	10	0.59425	D	0.04	-21.9287	11.8114	0.52185	0.0:0.8576:0.0:0.1424	.	318	Q5T0W9	FA83B_HUMAN	R	318	ENSP00000304078:S318R	ENSP00000304078:S318R	S	+	3	2	FAM83B	54912682	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.518000	0.35877	1.424000	0.47217	0.585000	0.79938	AGC		0.388	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		19	47	0	0	0	0	19	47				
ABCA13	154664	broad.mit.edu	37	7	48318540	48318540	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:48318540A>G	ENST00000435803.1	+	18	7773	c.7749A>G	c.(7747-7749)acA>acG	p.T2583T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2583					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCATTTCACATTTGAAAAGA	0.308																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7747-7749)ACA>ACG		ATP binding cassette, sub-family A (ABC1),							54.0	57.0	56.0					7																	48318540		1803	4063	5866	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318540A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7749A>G	7.37:g.48318540A>G						ABCA13_uc010kys.1_5'Flank	p.T2583T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7774	+			2583					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.7749A>G	CCDS47584.1																																																																																				0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		29	45	0	0	0	0	29	45				
PARP12	64761	broad.mit.edu	37	7	139737556	139737556	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:139737556T>C	ENST00000263549.3	-	7	2156	c.1283A>G	c.(1282-1284)aAg>aGg	p.K428R	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	428	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGCCTGGAACTTCAAGGTGGC	0.602																																						uc003vvl.1		NA																	0				ovary(3)	3						c.(1282-1284)AAG>AGG		poly ADP-ribose polymerase 12							104.0	79.0	88.0					7																	139737556		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139737556T>C	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1283A>G	7.37:g.139737556T>C	ENSP00000263549:p.Lys428Arg					PARP12_uc003vvk.1_Missense_Mutation_p.K214R|PARP12_uc010lnf.1_Intron	p.K428R	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			7	2157	-	Melanoma(164;0.0142)		428			WWE 2.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.1283A>G	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.406675	0.42715	.	.	ENSG00000059378	ENST00000263549	T	0.29142	1.58	5.7	0.367	0.16140	WWE domain (1);	0.506724	0.23472	N	0.047817	T	0.14485	0.0350	N	0.21583	0.68	0.25374	N	0.98867	B	0.09022	0.002	B	0.09377	0.004	T	0.21211	-1.0252	10	0.16420	T	0.52	.	4.4825	0.11774	0.2441:0.139:0.0:0.617	.	428	Q9H0J9	PAR12_HUMAN	R	428	ENSP00000263549:K428R	ENSP00000263549:K428R	K	-	2	0	PARP12	139384025	0.802000	0.28943	0.977000	0.42913	0.950000	0.60333	0.480000	0.22244	0.105000	0.17753	0.459000	0.35465	AAG		0.602	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		11	26	0	0	0	0	11	26				
OR2A2	442361	broad.mit.edu	37	7	143806912	143806912	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:143806912G>T	ENST00000408979.2	+	1	306	c.237G>T	c.(235-237)aaG>aaT	p.K79N		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATGTTCCCAAGATGTTGGCAA	0.433																																						uc011ktz.1		NA																	0				skin(2)	2						c.(235-237)AAG>AAT		olfactory receptor, family 2, subfamily A,							233.0	220.0	224.0					7																	143806912		2057	4226	6283	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806912G>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.237G>T	7.37:g.143806912G>T	ENSP00000386209:p.Lys79Asn						p.K79N	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	237	+	Melanoma(164;0.0783)		79			Extracellular (Potential).		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.237G>T	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	5.529	0.282448	0.10458	.	.	ENSG00000221989	ENST00000408979	T	0.00469	7.21	3.61	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.691110	0.11213	U	0.587552	T	0.00384	0.0012	L	0.45051	1.395	0.09310	N	0.999998	B	0.14438	0.01	B	0.17722	0.019	T	0.45483	-0.9258	10	0.66056	D	0.02	-6.126	4.1576	0.10268	0.1168:0.0:0.4736:0.4096	.	79	Q6IF42	OR2A2_HUMAN	N	79	ENSP00000386209:K79N	ENSP00000386209:K79N	K	+	3	2	OR2A2	143437845	0.000000	0.05858	0.985000	0.45067	0.322000	0.28314	0.096000	0.15147	0.293000	0.22520	0.609000	0.83330	AAG		0.433	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			27	152	1	0	4.72e-08	5.48e-08	27	152				
CNTNAP2	26047	broad.mit.edu	37	7	146825855	146825855	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:146825855T>G	ENST00000361727.3	+	7	1526	c.1010T>G	c.(1009-1011)aTg>aGg	p.M337R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	337	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGGCTGCATGGAAAGCATC	0.408										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1009-1011)ATG>AGG		cell recognition molecule Caspr2 precursor							111.0	114.0	113.0					7																	146825855		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146825855T>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1010T>G	7.37:g.146825855T>G	ENSP00000354778:p.Met337Arg	HNSCC(39;0.1)					p.M337R	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		7	1526	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	337			Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1010T>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197479	0.79015	.	.	ENSG00000174469	ENST00000361727	T	0.81163	-1.46	5.84	5.84	0.93424	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89192	0.6645	M	0.79475	2.455	0.80722	D	1	D	0.65815	0.995	D	0.68621	0.959	D	0.90442	0.4432	10	0.87932	D	0	.	15.0509	0.71867	0.0:0.0:0.0:1.0	.	337	Q9UHC6	CNTP2_HUMAN	R	337	ENSP00000354778:M337R	ENSP00000354778:M337R	M	+	2	0	CNTNAP2	146456788	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.904000	0.87408	2.243000	0.73865	0.533000	0.62120	ATG		0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			40	70	0	0	0	0	40	70				
SMARCD3	6604	broad.mit.edu	37	7	150936506	150936506	+	Silent	SNP	G	G	A	rs139287814	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:150936506G>A	ENST00000262188.8	-	12	1784	c.1374C>T	c.(1372-1374)gcC>gcT	p.A458A	SMARCD3_ENST00000392811.2_Silent_p.A445A|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000477169.1_5'Flank|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Silent_p.A445A	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	458					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCGACTGACGGCCTCCTGGG	0.612													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17969	0.0		0.0	False		,,,				2504	0.0					uc003wjs.2		NA																	0				ovary(1)|lung(1)	2						c.(1372-1374)GCC>GCT		SWI/SNF related, matrix associated, actin		G	,,	1,4405	2.1+/-5.4	0,1,2202	45.0	50.0	48.0		1374,1335,1335	-10.0	0.0	7	dbSNP_134	48	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	SMARCD3	NM_001003801.1,NM_001003802.1,NM_003078.3	,,	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	,,	458/484,445/471,445/471	150936506	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150936506G>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1374C>T	7.37:g.150936506G>A						SMARCD3_uc003wjt.2_Silent_p.A445A|SMARCD3_uc003wju.2_Silent_p.A445A	p.A458A	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1475	-			458					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	ENST00000262188.8	37	c.1374C>T	CCDS34780.1																																																																																				0.612	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		12	34	0	0	0	0	12	34				
DPP6	1804	broad.mit.edu	37	7	154585880	154585880	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:154585880C>G	ENST00000377770.3	+	11	1369	c.1228C>G	c.(1228-1230)Ctc>Gtc	p.L410V	DPP6_ENST00000427557.1_Missense_Mutation_p.L303V|DPP6_ENST00000332007.3_Missense_Mutation_p.L348V|DPP6_ENST00000404039.1_Missense_Mutation_p.L346V			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	410					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATCCTCACCCTCTGCGACGC	0.657																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(1228-1230)CTC>GTC		dipeptidyl-peptidase 6 isoform 1							36.0	40.0	39.0					7																	154585880		2119	4217	6336	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154585880C>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1228C>G	7.37:g.154585880C>G	ENSP00000367001:p.Leu410Val					DPP6_uc003wli.2_Missense_Mutation_p.L346V|DPP6_uc003wlm.2_Missense_Mutation_p.L348V|DPP6_uc011kvq.1_Missense_Mutation_p.L303V	p.L410V	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		11	1357	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	410			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.1228C>G		.	.	.	.	.	.	.	.	.	.	C	11.54	1.670469	0.29693	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.21	4.21	0.49690	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	N	0.17800	0.525	0.58432	D	0.999997	B;B;B;B	0.30406	0.023;0.056;0.278;0.069	B;B;B;B	0.35182	0.078;0.079;0.197;0.13	T	0.03545	-1.1026	10	0.09084	T	0.74	-20.1922	16.5503	0.84471	0.0:1.0:0.0:0.0	.	303;348;410;346	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	V	346;410;348;303	ENSP00000385578:L346V;ENSP00000367001:L410V;ENSP00000328226:L348V;ENSP00000397303:L303V	ENSP00000328226:L348V	L	+	1	0	DPP6	154216813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.426000	0.59882	2.070000	0.61991	0.650000	0.86243	CTC		0.657	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		4	10	0	0	0	0	4	10				
CSMD1	64478	broad.mit.edu	37	8	2832027	2832027	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:2832027T>C	ENST00000520002.1	-	57	9244	c.8689A>G	c.(8689-8691)Acg>Gcg	p.T2897A	CSMD1_ENST00000400186.3_Missense_Mutation_p.T2839A|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2838A|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2839A|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2896A|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2897A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2897	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACACTCTCGTGTCGTTGCCT	0.572																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(8689-8691)ACG>GCG		CUB and Sushi multiple domains 1 precursor							51.0	54.0	53.0					8																	2832027		2023	4179	6202	SO:0001583	missense	64478					integral to membrane		g.chr8:2832027T>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8689A>G	8.37:g.2832027T>C	ENSP00000430733:p.Thr2897Ala					CSMD1_uc011kwj.1_Missense_Mutation_p.T2226A|CSMD1_uc010lrg.2_Missense_Mutation_p.T907A	p.T2897A	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	56	9079	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2897			Sushi 21.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8689A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.74|11.74	1.727656|1.727656	0.30593|0.30593	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18	5.66|5.66	3.26|3.26	0.37387|0.37387	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.063991	.|0.64402	.|D	.|0.000009	T|T	0.62097|0.62097	0.2400|0.2400	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|B;B;P	.|0.36378	.|0.065;0.291;0.55	.|B;B;B	.|0.41666	.|0.089;0.363;0.358	T|T	0.54337|0.54337	-0.8309|-0.8309	5|10	.|0.23891	.|T	.|0.37	.|.	7.6661|7.6661	0.28432|0.28432	0.1254:0.0678:0.0:0.8068|0.1254:0.0678:0.0:0.8068	.|.	.|2897;2897;2838	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	R|A	2313|2839;2897;2758;2896;2838	.|ENSP00000383047:T2839A;ENSP00000430733:T2897A;ENSP00000441462:T2896A;ENSP00000446243:T2838A	.|ENSP00000320445:T2758A	H|T	-|-	2|1	0|0	CSMD1|CSMD1	2819434|2819434	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.000000|0.000000	0.00434|0.00434	4.954000|4.954000	0.63631|0.63631	0.411000|0.411000	0.25702|0.25702	-1.140000|-1.140000	0.01884|0.01884	CAC|ACG		0.572	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	8	0	0	0	0	5	8				
CYP7A1	1581	broad.mit.edu	37	8	59409370	59409370	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:59409370G>T	ENST00000301645.3	-	3	838	c.701C>A	c.(700-702)gCc>gAc	p.A234D		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	234					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTTCTCCCGGGCATTGTGCGC	0.488									Neonatal Giant Cell Hepatitis																													uc003xtm.3		NA																	0				ovary(1)	1						c.(700-702)GCC>GAC		cytochrome P450, family 7, subfamily A,							159.0	160.0	160.0					8																	59409370		2203	4300	6503	SO:0001583	missense	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409370G>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.701C>A	8.37:g.59409370G>T	ENSP00000301645:p.Ala234Asp						p.A234D	NM_000780	NP_000771	P22680	CP7A1_HUMAN			3	764	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	234					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.701C>A	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580782	0.65992	.	.	ENSG00000167910	ENST00000301645	T	0.73152	-0.72	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.85731	0.1331	10	0.72032	D	0.01	-19.0119	20.2982	0.98569	0.0:0.0:1.0:0.0	.	234	P22680	CP7A1_HUMAN	D	234	ENSP00000301645:A234D	ENSP00000301645:A234D	A	-	2	0	CYP7A1	59571924	1.000000	0.71417	0.962000	0.40283	0.005000	0.04900	9.702000	0.98712	2.873000	0.98535	0.563000	0.77884	GCC		0.488	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		20	76	1	0	1.16e-05	1.32e-05	20	76				
TRHR	7201	broad.mit.edu	37	8	110131301	110131301	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:110131301G>T	ENST00000518632.1	+	3	1165	c.814G>T	c.(814-816)Gta>Tta	p.V272L	TRHR_ENST00000311762.2_Missense_Mutation_p.V272L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	272					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGCAGTGGTTGTAATTCTGTT	0.413																																						uc003ymz.3		NA																	0		p.V272A(1)		skin(2)|lung(1)	3						c.(814-816)GTA>TTA		thyrotropin-releasing hormone receptor							247.0	243.0	244.0					8																	110131301		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131301G>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.814G>T	8.37:g.110131301G>T	ENSP00000430711:p.Val272Leu						p.V272L	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	830	+			272			Helical; Name=6; (Potential).		Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.814G>T	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220958	0.95139	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.68025	-0.3;-0.3	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.109437	0.64402	D	0.000007	D	0.85208	0.5644	M	0.91354	3.2	0.80722	D	1	D	0.59767	0.986	D	0.63283	0.913	D	0.86176	0.1603	10	0.51188	T	0.08	-9.5197	19.6407	0.95757	0.0:0.0:1.0:0.0	.	272	P34981	TRFR_HUMAN	L	272	ENSP00000430711:V272L;ENSP00000309818:V272L	ENSP00000309818:V272L	V	+	1	0	TRHR	110200477	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.773000	0.98989	2.890000	0.99128	0.585000	0.79938	GTA		0.413	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			152	134	1	0	3.55e-78	4.48e-78	152	134				
KDM4C	23081	broad.mit.edu	37	9	6986506	6986506	+	Missense_Mutation	SNP	C	C	T	rs376253166		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:6986506C>T	ENST00000381309.3	+	11	2082	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	KDM4C_ENST00000543771.1_Missense_Mutation_p.S506L|KDM4C_ENST00000428870.2_Missense_Mutation_p.S193L|KDM4C_ENST00000536108.1_Missense_Mutation_p.S325L|KDM4C_ENST00000381306.3_Missense_Mutation_p.S506L|KDM4C_ENST00000442236.2_Missense_Mutation_p.S325L|KDM4C_ENST00000535193.1_Missense_Mutation_p.S528L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	506					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TCCGAGCTTTCATGGCCAAAG	0.478																																						uc003zkh.2		NA																	0				ovary(1)	1						c.(1516-1518)TCA>TTA		jumonji domain containing 2C isoform 1		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	135.0	122.0	126.0		1517,1583,1517,1517	3.0	0.0	9		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KDM4C	NM_015061.3,NM_001146696.1,NM_001146695.1,NM_001146694.1	145,145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	506/1057,528/836,506/814,506/1048	6986506	1,13005	2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6986506C>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1517C>T	9.37:g.6986506C>T	ENSP00000370710:p.Ser506Leu					KDM4C_uc010mhu.2_Missense_Mutation_p.S528L|KDM4C_uc011lmi.1_Missense_Mutation_p.S506L|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.S506L|KDM4C_uc011lmk.1_Missense_Mutation_p.S325L|KDM4C_uc011lml.1_Missense_Mutation_p.S193L	p.S506L	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			11	2097	+			506					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.1517C>T	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.766006	0.31228	0.0	1.16E-4	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.3	3.03	0.35002	.	1.583900	0.03358	N	0.197133	T	0.26376	0.0644	N	0.02275	-0.615	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.0;0.001	T	0.19976	-1.0289	10	0.31617	T	0.26	-10.1277	8.527	0.33311	0.0:0.7901:0.0:0.2099	.	325;506;528;506;506	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	L	528;506;506;506;325;325;193	ENSP00000442382:S528L;ENSP00000445427:S506L;ENSP00000370710:S506L;ENSP00000370707:S506L;ENSP00000409353:S325L;ENSP00000440656:S325L;ENSP00000405739:S193L	ENSP00000370707:S506L	S	+	2	0	KDM4C	6976506	0.068000	0.21057	0.016000	0.15963	0.109000	0.19521	0.869000	0.27996	0.539000	0.28788	0.655000	0.94253	TCA		0.478	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		17	24	0	0	0	0	17	24				
VPS13A	23230	broad.mit.edu	37	9	79898351	79898351	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:79898351G>C	ENST00000360280.3	+	30	3459	c.3199G>C	c.(3199-3201)Gat>Cat	p.D1067H	VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1067H|VPS13A_ENST00000376634.4_Missense_Mutation_p.D1067H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1067					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTATTCAAGATCAGAAATG	0.254																																						uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(3199-3201)GAT>CAT		vacuolar protein sorting 13A isoform A							31.0	33.0	32.0					9																	79898351		2184	4276	6460	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79898351G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3199G>C	9.37:g.79898351G>C	ENSP00000353422:p.Asp1067His					VPS13A_uc004akp.3_Missense_Mutation_p.D1067H|VPS13A_uc004akq.3_Missense_Mutation_p.D1067H|VPS13A_uc004aks.2_Intron	p.D1067H	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			30	3459	+			1067					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.3199G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090772	0.76756	.	.	ENSG00000197969	ENST00000376634;ENST00000360280;ENST00000357409	T;T;T	0.50001	0.85;0.76;0.85	5.74	4.85	0.62838	.	0.262121	0.38111	N	0.001818	T	0.57154	0.2034	M	0.68317	2.08	0.80722	D	1	P;P;P	0.43633	0.716;0.813;0.813	B;P;P	0.48840	0.341;0.592;0.468	T	0.62067	-0.6932	10	0.66056	D	0.02	.	14.7999	0.69906	0.0692:0.0:0.9308:0.0	.	1067;1067;1067	Q96RL7;Q96RL7-2;Q96RL7-4	VP13A_HUMAN;.;.	H	1067	ENSP00000365821:D1067H;ENSP00000353422:D1067H;ENSP00000349985:D1067H	ENSP00000349985:D1067H	D	+	1	0	VPS13A	79088171	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.702000	0.74628	1.439000	0.47511	0.650000	0.86243	GAT		0.254	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		10	10	0	0	0	0	10	10				
KIF27	55582	broad.mit.edu	37	9	86518343	86518343	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:86518343T>G	ENST00000297814.2	-	4	1233	c.1090A>C	c.(1090-1092)Aaa>Caa	p.K364Q	KIF27_ENST00000334204.2_Missense_Mutation_p.K364Q|KIF27_ENST00000413982.1_Missense_Mutation_p.K364Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	364					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CGAAGCAATTTAATCTCAAAT	0.433																																						uc004ana.2		NA																	0				lung(4)|skin(1)	5						c.(1090-1092)AAA>CAA		kinesin family member 27							120.0	123.0	122.0					9																	86518343		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518343T>G	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1090A>C	9.37:g.86518343T>G	ENSP00000297814:p.Lys364Gln					KIF27_uc010mpw.2_Missense_Mutation_p.K364Q|KIF27_uc010mpx.2_Missense_Mutation_p.K364Q	p.K364Q	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			4	1234	-			364			Potential.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1090A>C	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.353772	0.41700	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.72394	-0.65;-0.65;-0.65	5.56	4.36	0.52297	.	0.096478	0.43416	D	0.000575	T	0.73233	0.3561	L	0.54323	1.7	0.28075	N	0.932431	P;P;D	0.65815	0.879;0.494;0.995	P;B;P	0.57425	0.488;0.159;0.82	T	0.64588	-0.6372	10	0.12430	T	0.62	.	12.3118	0.54933	0.0:0.0:0.1411:0.8589	.	364;364;364	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	Q	364	ENSP00000297814:K364Q;ENSP00000401688:K364Q;ENSP00000333928:K364Q	ENSP00000297814:K364Q	K	-	1	0	KIF27	85708163	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.181000	0.50903	2.125000	0.65367	0.533000	0.62120	AAA		0.433	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		19	57	0	0	0	0	19	57				
MID1	4281	broad.mit.edu	37	X	10535569	10535569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:10535569C>A	ENST00000317552.4	-	2	419	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	MID1_ENST00000380787.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380780.1_Nonsense_Mutation_p.E7*|MID1_ENST00000453318.2_Nonsense_Mutation_p.E7*|MID1_ENST00000380782.2_Nonsense_Mutation_p.E7*|MID1_ENST00000380779.1_Nonsense_Mutation_p.E7*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	7					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGGTCAGTTCTGACTCCAGT	0.493																																						uc004cte.3		NA																	0				ovary(2)|pancreas(1)	3						c.(19-21)GAA>TAA		midline 1							86.0	82.0	83.0					X																	10535569		2203	4300	6503	SO:0001587	stop_gained	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10535569C>A	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.19G>T	X.37:g.10535569C>A	ENSP00000312678:p.Glu7*					MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Nonsense_Mutation_p.E7*|MID1_uc004cth.3_Nonsense_Mutation_p.E7*|MID1_uc004ctk.3_Nonsense_Mutation_p.E7*|MID1_uc004cti.3_Nonsense_Mutation_p.E7*|MID1_uc004ctj.3_Nonsense_Mutation_p.E7*|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Nonsense_Mutation_p.E7*|MID1_uc004ctn.1_Nonsense_Mutation_p.E7*|MID1_uc004cto.1_Nonsense_Mutation_p.E7*|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Nonsense_Mutation_p.E7*|MID1_uc004ctu.2_Nonsense_Mutation_p.E7*|MID1_uc004ctv.2_Nonsense_Mutation_p.E7*|MID1_uc004ctw.2_Nonsense_Mutation_p.E7*|MID1_uc010ndy.1_Nonsense_Mutation_p.E7*|uc010ndz.1_5'Flank|MID1_uc004cty.2_Nonsense_Mutation_p.E7*|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Nonsense_Mutation_p.E7*|MID1_uc010nea.1_5'Flank|MID1_uc004cuc.1_Nonsense_Mutation_p.E7*|MID1_uc004cud.1_Nonsense_Mutation_p.E7*|MID1_uc004cue.1_Nonsense_Mutation_p.E7*|MID1_uc004cuf.1_Nonsense_Mutation_p.E7*|MID1_uc004cug.1_Nonsense_Mutation_p.E7*	p.E7*	NM_033290	NP_150632	O15344	TRI18_HUMAN			2	210	-			7					B2RCG2|O75361|Q9BZX5	Nonsense_Mutation	SNP	ENST00000317552.4	37	c.19G>T	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	37	6.410728	0.97546	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894;ENST00000423614	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	.	.	.	X	7	.	ENSP00000312678:E7X	E	-	1	0	MID1	10495569	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.663000	0.83820	2.386000	0.81285	0.600000	0.82982	GAA		0.493	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			28	20	1	0	4.88e-14	5.98e-14	28	20				
GPR64	10149	broad.mit.edu	37	X	19022940	19022940	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:19022940A>G	ENST00000379869.3	-	23	2060	c.1897T>C	c.(1897-1899)Tat>Cat	p.Y633H	GPR64_ENST00000379873.2_Missense_Mutation_p.Y633H|GPR64_ENST00000379876.1_Missense_Mutation_p.Y609H|GPR64_ENST00000360279.4_Missense_Mutation_p.Y611H|GPR64_ENST00000354791.3_Missense_Mutation_p.Y617H|GPR64_ENST00000357991.3_Missense_Mutation_p.Y630H|GPR64_ENST00000340581.3_Missense_Mutation_p.Y514H|GPR64_ENST00000357544.3_Missense_Mutation_p.Y603H|GPR64_ENST00000356606.4_Missense_Mutation_p.Y619H|GPR64_ENST00000379878.3_Missense_Mutation_p.Y617H	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	633					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CAACCAATATATGTAATGAAC	0.358																																						uc004cyx.2		NA																	0					0						c.(1897-1899)TAT>CAT		G protein-coupled receptor 64 isoform 1							149.0	149.0	149.0					X																	19022940		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19022940A>G	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1897T>C	X.37:g.19022940A>G	ENSP00000369198:p.Tyr633His					GPR64_uc004cyy.2_Missense_Mutation_p.Y630H|GPR64_uc004cyz.2_Missense_Mutation_p.Y619H|GPR64_uc004czb.2_Missense_Mutation_p.Y633H|GPR64_uc004czc.2_Missense_Mutation_p.Y617H|GPR64_uc004czd.2_Missense_Mutation_p.Y609H|GPR64_uc004cze.2_Missense_Mutation_p.Y603H|GPR64_uc004czf.2_Missense_Mutation_p.Y595H|GPR64_uc004cza.2_Missense_Mutation_p.Y611H|GPR64_uc004cyw.2_Missense_Mutation_p.Y617H|GPR64_uc010nfj.2_Missense_Mutation_p.Y514H	p.Y633H	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			23	2061	-	Hepatocellular(33;0.183)		633			Helical; Name=1; (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.1897T>C	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.102282	0.56183	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.000000	0.48286	D	0.000194	T	0.66567	0.2802	M	0.79011	2.435	0.80722	D	1	P;D;D;D;D;D;D;D;D;D;D	0.89917	0.933;1.0;1.0;0.987;0.987;1.0;1.0;1.0;1.0;0.989;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.928;0.996;1.0;0.962;0.962;1.0;1.0;0.999;0.999;0.952;1.0	T	0.70985	-0.4723	10	0.87932	D	0	.	15.4737	0.75461	1.0:0.0:0.0:0.0	.	514;595;603;609;617;633;611;619;630;633;617	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	H	633;617;617;609;603;633;611;630;619;514	ENSP00000369202:Y633H;ENSP00000369207:Y617H;ENSP00000346845:Y617H;ENSP00000369205:Y609H;ENSP00000350152:Y603H;ENSP00000369198:Y633H;ENSP00000353421:Y611H;ENSP00000350680:Y630H;ENSP00000349015:Y619H;ENSP00000344972:Y514H	ENSP00000344972:Y514H	Y	-	1	0	GPR64	18932861	1.000000	0.71417	0.908000	0.35775	0.052000	0.14988	7.088000	0.76901	2.038000	0.60285	0.486000	0.48141	TAT		0.358	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			27	56	0	0	0	0	27	56				
KDM6A	7403	broad.mit.edu	37	X	44922694	44922694	+	Nonsense_Mutation	SNP	C	C	T	rs397514628		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:44922694C>T	ENST00000377967.4	+	16	1596	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R526*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R440*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R474*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	519	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.R519*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGCACAGGTACGATCTACTGG	0.463			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NA		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		9	Whole gene deletion(6)|No detectable mRNA/protein(2)|Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)|lung(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1555-1557)CGA>TGA		ubiquitously transcribed tetratricopeptide							77.0	68.0	71.0					X																	44922694		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922694C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1555C>T	X.37:g.44922694C>T	ENSP00000367203:p.Arg519*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.R485*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.R571*|KDM6A_uc011mla.1_Nonsense_Mutation_p.R474*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.R526*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.R223*|KDM6A_uc011mld.1_Nonsense_Mutation_p.R158*	p.R519*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	1930	+			519					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1555C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861176|4.861176	0.91433|0.91433	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000414389;ENST00000433797	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.365679|.	0.29053|.	N|.	0.013298|.	.|T	.|0.73885	.|0.3644	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74109	.|-0.3771	.|3	0.02654|.	T|.	1|.	-6.2392|-6.2392	17.7676|17.7676	0.88483|0.88483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	216;519;474;526;440;112|116;161	.|.	ENSP00000334340:R216X|.	R|T	+|+	1|2	2|0	KDM6A|KDM6A	44807638|44807638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	4.387000|4.387000	0.59626|0.59626	2.213000|2.213000	0.71641|0.71641	0.513000|0.513000	0.50165|0.50165	CGA|ACG		0.463	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		18	37	0	0	0	0	18	37				
ZNF711	7552	broad.mit.edu	37	X	84526033	84526033	+	Silent	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:84526033G>A	ENST00000373165.3	+	9	1791	c.1485G>A	c.(1483-1485)ttG>ttA	p.L495L	ZNF711_ENST00000276123.3_Silent_p.L495L|ZNF711_ENST00000360700.4_Silent_p.L541L|ZNF711_ENST00000395402.1_Silent_p.L503L|ZNF711_ENST00000542798.1_Silent_p.L337L	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	495					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ACAGGCATTTGTTGGCCGTTC	0.408																																						uc004eeo.2		NA																	0				ovary(3)|skin(1)	4						c.(1483-1485)TTG>TTA		zinc finger protein 711							92.0	75.0	81.0					X																	84526033		2203	4300	6503	SO:0001819	synonymous_variant	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526033G>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1485G>A	X.37:g.84526033G>A						ZNF711_uc004eep.2_Silent_p.L495L|ZNF711_uc004eeq.2_Silent_p.L541L|ZNF711_uc011mqy.1_Silent_p.L94L	p.L495L	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			9	1832	+			495			C2H2-type 3.		B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	c.1485G>A	CCDS35344.1																																																																																				0.408	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		3	29	0	0	0	0	3	29				
RGAG1	57529	broad.mit.edu	37	X	109696372	109696372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:109696372G>T	ENST00000465301.2	+	3	2773	c.2527G>T	c.(2527-2529)Gga>Tga	p.G843*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.G843*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	843										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCCCATCTCTGGAGCAATGTC	0.517																																						uc004eor.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2527-2529)GGA>TGA		retrotransposon gag domain containing 1							167.0	155.0	159.0					X																	109696372		2203	4300	6503	SO:0001587	stop_gained	57529							g.chrX:109696372G>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2527G>T	X.37:g.109696372G>T	ENSP00000419786:p.Gly843*					RGAG1_uc011msr.1_Nonsense_Mutation_p.G843*	p.G843*	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	2773	+			843					Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	37	c.2527G>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	37	6.157869	0.97334	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	.	.	.	4.02	2.24	0.28232	.	0.248845	0.21023	N	0.081467	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5199	7.5752	0.27931	0.2239:0.0:0.7761:0.0	.	.	.	.	X	843	.	.	G	+	1	0	RGAG1	109583028	0.015000	0.18098	0.003000	0.11579	0.570000	0.35934	1.102000	0.31050	0.472000	0.27344	0.513000	0.50165	GGA		0.517	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		61	32	1	0	1.5e-40	1.88e-40	61	32				
VPS13D	55187	broad.mit.edu	37	1	12414089	12414090	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:12414089_12414090delTC	ENST00000358136.3	+	47	9620_9621	c.9490_9491delTC	c.(9490-9492)tctfs	p.S3164fs	VPS13D_ENST00000356315.4_Frame_Shift_Del_p.S3139fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAACATATTTTCTGACAGTGCA	0.356																																						uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(9490-9492)TCTfs		vacuolar protein sorting 13D isoform 1																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12414089_12414090delTC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9490_9491delTC	1.37:g.12414089_12414090delTC	ENSP00000350854:p.Ser3164fs					VPS13D_uc001atw.2_Frame_Shift_Del_p.S3139fs|VPS13D_uc001atx.2_Frame_Shift_Del_p.S2351fs	p.S3164fs	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	47	9631_9632	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3163						Frame_Shift_Del	DEL	ENST00000358136.3	37	c.9490_9491delTC	CCDS30588.1																																																																																				0.356	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		7	47	NA	NA	NA	NA	7	47	---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27390526	27390527	+	Frame_Shift_Ins	INS	-	-	AGAAATCA			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:27390526_27390527insAGAAATCA	ENST00000379214.4	-	18	2186_2187	c.1743_1744insTGATTTCT	c.(1741-1746)tctgtgfs	p.V582fs	LGR4_ENST00000389858.4_Frame_Shift_Ins_p.V558fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	582					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAGTTAGACACAGAAATCAAGC	0.386																																						uc001mrj.3		NA																	0				ovary(1)	1						c.(1741-1746)TCTGTGfs		leucine-rich repeat-containing G protein-coupled																																				SO:0001589	frameshift_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390526_27390527insAGAAATCA	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1736_1743dupTGATTTCT	11.37:g.27390527_27390534dupAGAAATCA	ENSP00000368516:p.Val582fs					LGR4_uc001mrk.3_Frame_Shift_Ins_p.S557fs	p.S581fs	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			18	2228_2229	-			581_582			Helical; Name=2; (Potential).		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Frame_Shift_Ins	INS	ENST00000379214.4	37	c.1743_1744insTGATTTCT	CCDS31449.1																																																																																				0.386	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		13	57	NA	NA	NA	NA	13	57	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23451177	23451177	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr14:23451177delG	ENST00000262713.2	-	1	674	c.299delC	c.(298-300)cctfs	p.P100fs	RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.P100fs|RP11-298I3.4_ENST00000557615.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	100	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CTGAGGTAGAGGCAAGGCCCG	0.701																																						uc001whz.2		NA																	0					0						c.(298-300)CCTfs		ajuba isoform 1							6.0	8.0	8.0					14																	23451177		2141	4229	6370	SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23451177delG	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.299delC	14.37:g.23451177delG	ENSP00000262713:p.Pro100fs						p.P100fs	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	1	675	-	all_cancers(95;4.6e-05)		100			PreLIM.		A8MX18|D3DS37	Frame_Shift_Del	DEL	ENST00000262713.2	37	c.299delC	CCDS9581.1																																																																																				0.701	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			4	4	NA	NA	NA	NA	4	4	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28446658	28446659	+	Frame_Shift_Ins	INS	-	-	T	rs61756159|rs146159039	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:28446658_28446659insT	ENST00000261609.7	-	48	7767_7768	c.7659_7660insA	c.(7657-7662)aaacgafs	p.R2554fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R2554*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAATCAGCTCGTTTTTTGTACG	0.376																																						uc001zbj.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(7657-7662)AAACGAfs		hect domain and RLD 2																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28446658_28446659insT	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7660dupA	15.37:g.28446664_28446664dupT	ENSP00000261609:p.Arg2554fs					HERC2_uc001zbk.1_Frame_Shift_Ins_p.K88fs	p.K2553fs	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	48	7765_7766	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2553_2554						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.7659_7660insA	CCDS10021.1																																																																																				0.376	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		27	59	NA	NA	NA	NA	27	59	---	---	---	---
VASN	114990	broad.mit.edu	37	16	4432380	4432381	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:4432380_4432381insA	ENST00000304735.3	+	2	1657_1658	c.1502_1503insA	c.(1501-1506)ctatcgfs	p.S502fs	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	502	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						TATCGCAACCTATCGGGCCCTG	0.668																																						uc002cwj.1		NA																	0					0						c.(1501-1503)CTAfs		slit-like 2 precursor																																				SO:0001589	frameshift_variant	114990					extracellular region|integral to membrane		g.chr16:4432380_4432381insA	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1503dupA	16.37:g.4432381_4432381dupA	ENSP00000306864:p.Ser502fs					CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	p.L501fs	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN			2	1657_1658	+			501			Fibronectin type-III.|Extracellular (Potential).		Q6UXL4|Q6UXL5|Q96CX1	Frame_Shift_Ins	INS	ENST00000304735.3	37	c.1502_1503insA	CCDS10514.1																																																																																				0.668	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		8	14	NA	NA	NA	NA	8	14	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72822585	72822586	+	Frame_Shift_Ins	INS	-	-	G	rs141461385		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:72822585_72822586insG	ENST00000268489.5	-	10	10261_10262	c.9589_9590insC	c.(9589-9591)cagfs	p.Q3197fs	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.Q2283fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3197	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ctgctgctgctgGGGGGGTTGC	0.658																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(9589-9591)CAGfs		zinc finger homeobox 3 isoform A																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822585_72822586insG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9590dupC	16.37:g.72822592_72822592dupG	ENSP00000268489:p.Gln3197fs					ZFHX3_uc002fcl.2_Frame_Shift_Ins_p.Q2283fs	p.Q3197fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	10262_10263	-		Ovarian(137;0.13)	3197			Poly-Gln.		D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.9589_9590insC	CCDS10908.1																																																																																				0.658	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		23	118	NA	NA	NA	NA	23	118	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577115	7577116	+	In_Frame_Ins	INS	-	-	AAC			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:7577115_7577116insAAC	ENST00000269305.4	-	8	1011_1012	c.822_823insGTT	c.(820-825)gtttgt>gttGTTtgt	p.274_275insV	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_In_Frame_Ins_p.274_275insV|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Ins_p.274_275insV|TP53_ENST00000359597.4_In_Frame_Ins_p.274_275insV|TP53_ENST00000455263.2_In_Frame_Ins_p.274_275insV	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.|V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C275G(7)|p.C275R(7)|p.V274V(3)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGACAGGCACAAACACGCACCT	0.55		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		39	Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Substitution - coding silent(3)|Insertion - Frameshift(2)|Unknown(2)	p.V274F(17)|p.V274A(13)|p.V274L(9)|p.C275G(7)|p.V274D(7)|p.0?(7)|p.C275R(6)|p.V274G(6)|p.V274I(4)|p.V274V(3)|p.C275fs*31(2)|p.?(2)|p.V274fs*71(1)|p.R273_C275delRVC(1)|p.V274_P278del(1)|p.C275fs*70(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)	bone(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|breast(4)|upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|oesophagus(2)|peritoneum(1)|skin(1)|lung(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(820-825)insGTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001652	inframe_insertion	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577115_7577116insAAC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.820_822dupGTT	17.37:g.7577116_7577118dupAAC	ENSP00000269305:p.Val274_Val274dup	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_In_Frame_Ins_p.274_275insV|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Ins_p.142_143insV|TP53_uc010cng.1_In_Frame_Ins_p.142_143insV|TP53_uc002gii.1_In_Frame_Ins_p.142_143insV|TP53_uc010cnh.1_In_Frame_Ins_p.274_275insV|TP53_uc010cni.1_In_Frame_Ins_p.274_275insV|TP53_uc002gij.2_In_Frame_Ins_p.274_275insV	p.274_275insV	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1016_1017	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	274_275		C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Ins	INS	ENST00000269305.4	37	c.822_823insGTT	CCDS11118.1																																																																																				0.550	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	19	NA	NA	NA	NA	14	19	---	---	---	---
CD28	940	broad.mit.edu	37	2	204591669	204591669	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:204591669delC	ENST00000324106.8	+	2	515	c.366delC	c.(364-366)tacfs	p.Y122fs	CD28_ENST00000458610.2_Frame_Shift_Del_p.Y136fs|CD28_ENST00000374481.3_Intron|CD28_ENST00000374478.4_Intron	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	122	Ig-like V-type.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CTCCTCCTTACCTAGACAATG	0.368																																						uc002vah.3		NA																	0					0						c.(364-366)TACfs		CD28 antigen precursor							62.0	60.0	61.0					2																	204591669		2203	4300	6503	SO:0001589	frameshift_variant	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204591669delC	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.366delC	2.37:g.204591669delC	ENSP00000324890:p.Tyr122fs					CD28_uc002vag.1_Intron|CD28_uc010zio.1_Intron|CD28_uc010ftx.2_Intron|CD28_uc002vaj.3_Intron	p.Y122fs	NM_006139	NP_006130	P10747	CD28_HUMAN			2	588	+			122			Extracellular (Potential).|Ig-like V-type.		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Frame_Shift_Del	DEL	ENST00000324106.8	37	c.366delC	CCDS2361.1																																																																																				0.368	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		16	28	NA	NA	NA	NA	16	28	---	---	---	---
MFSD7	84179	broad.mit.edu	37	4	678633	678634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:678633_678634insA	ENST00000404286.2	-	5	612_613	c.597_598insT	c.(595-600)tataccfs	p.T200fs	MFSD7_ENST00000515118.1_Frame_Shift_Ins_p.T103fs|MFSD7_ENST00000503156.1_Frame_Shift_Ins_p.T136fs|MFSD7_ENST00000322224.4_Frame_Shift_Ins_p.T200fs|MFSD7_ENST00000347950.5_Frame_Shift_Ins_p.T81fs|MFSD7_ENST00000513740.1_5'Flank	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	200					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GCAGGGATGGTATAGACACCGA	0.683																																						uc003gay.2		NA																	0					0						c.(595-600)TATACCfs		major facilitator superfamily domain containing																																				SO:0001589	frameshift_variant	84179				transmembrane transport	integral to membrane		g.chr4:678633_678634insA	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.598dupT	4.37:g.678634_678634dupA	ENSP00000384616:p.Thr200fs					MFSD7_uc003gaw.2_5'UTR|MFSD7_uc003gax.2_Frame_Shift_Ins_p.Y199fs|MFSD7_uc003gaz.2_Frame_Shift_Ins_p.Y80fs|MFSD7_uc003gba.2_Frame_Shift_Ins_p.Y102fs|MFSD7_uc003gbb.1_Frame_Shift_Ins_p.Y135fs	p.Y199fs	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			5	654_655	-			199_200			Helical; (Potential).		A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Frame_Shift_Ins	INS	ENST00000404286.2	37	c.597_598insT																																																																																					0.683	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		6	11	NA	NA	NA	NA	6	11	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32098603	32098604	+	Frame_Shift_Ins	INS	-	-	ACAA			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:32098603_32098604insACAA	ENST00000438447.1	+	23	8469_8470	c.8081_8082insACAA	c.(8080-8085)gcacagfs	p.-2695fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.-2695fs			O15018	PDZD2_HUMAN	PDZ domain containing 2						cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGCACCAGGCACAGCTGCACA	0.594																																						uc003jhl.2		NA																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(8080-8082)GCAfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32098603_32098604insACAA	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		Exception_encountered	5.37:g.32098603_32098604insACAA	ENSP00000402033:p.Gln2695fs					PDZD2_uc003jhm.2_Frame_Shift_Ins_p.A2694fs|PDZD2_uc003jhn.2_5'Flank	p.A2694fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN			23	8469_8470	+			2694			PDZ 5.		Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.8081_8082insACAA	CCDS34137.1																																																																																				0.594	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			19	32	NA	NA	NA	NA	19	32	---	---	---	---
CAPN11	11131	broad.mit.edu	37	6	44148689	44148702	+	Frame_Shift_Del	DEL	GGGCTTTGGCCTGG	GGGCTTTGGCCTGG	-	rs539652743		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr6:44148689_44148702delGGGCTTTGGCCTGG	ENST00000398776.1	+	18	1862_1875	c.1824_1837delGGGCTTTGGCCTGG	c.(1822-1839)aagggctttggcctggatfs	p.GFGLD609fs	CAPN11_ENST00000542245.1_Frame_Shift_Del_p.GFGLD609fs	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	609	Domain IV.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAAGACCAAGGGCTTTGGCCTGGATGCTTGCCG	0.57																																						uc003owt.1		NA																	0				ovary(1)|breast(1)	2						c.(1822-1839)AAGGGCTTTGGCCTGGATfs		calpain 11																																				SO:0001589	frameshift_variant	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44148689_44148702delGGGCTTTGGCCTGG	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1824_1837delGGGCTTTGGCCTGG	6.37:g.44148689_44148702delGGGCTTTGGCCTGG	ENSP00000381758:p.Gly609fs					CAPN11_uc011dvn.1_Frame_Shift_Del_p.K262fs	p.K608fs	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		18	1862_1875	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		608_613			EF-hand 1.|Domain IV.		B2RA64|Q5T3G1|Q8N4R5	Frame_Shift_Del	DEL	ENST00000398776.1	37	c.1824_1837delGGGCTTTGGCCTGG	CCDS47436.1																																																																																				0.570	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			36	209	NA	NA	NA	NA	36	209	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113569097	113569119	+	Frame_Shift_Del	DEL	TGGTGCTACCAGCAAAGTGGCCT	TGGTGCTACCAGCAAAGTGGCCT	-	rs145750770|rs201327971|rs202053990|rs143731892	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:113569097_113569119delTGGTGCTACCAGCAAAGTGGCCT	ENST00000297405.5	-	25	4351_4373	c.4107_4129delAGGCCACTTTGCTGGTAGCACCA	c.(4105-4131)caaggccactttgctggtagcaccatcfs	p.QGHFAGSTI1369fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.QGHFAGSTI1329fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.QGHFAGSTI1369fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.QGHFAGSTI1265fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1369	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q1329H(2)|p.Q1369H(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGA	0.453										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4105-4131)CAAGGCCACTTTGCTGGTAGCACCATCfs		CUB and Sushi multiple domains 3 isoform 1																																				SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113569097_113569119delTGGTGCTACCAGCAAAGTGGCCT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4107_4129delAGGCCACTTTGCTGGTAGCACCA	8.37:g.113569097_113569119delTGGTGCTACCAGCAAAGTGGCCT	ENSP00000297405:p.Gln1369fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Frame_Shift_Del_p.Q641fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.Q1329fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.Q1265fs	p.Q1369fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			25	4266_4288	-			1369_1377			Extracellular (Potential).|Sushi 7.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.4107_4129delAGGCCACTTTGCTGGTAGCACCA	CCDS6315.1																																																																																				0.453	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	36	NA	NA	NA	NA	7	36	---	---	---	---
