#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
PLEKHG5	57449	broad.mit.edu	37	1	6531696	6531696	+	Splice_Site	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:6531696A>T	ENST00000400915.3	-	13	1367	c.1301T>A	c.(1300-1302)gTg>gAg	p.V434E	PLEKHG5_ENST00000340850.5_Splice_Site_p.V378E|PLEKHG5_ENST00000544978.1_Splice_Site_p.V378E|PLEKHG5_ENST00000377740.3_Splice_Site_p.V455E|PLEKHG5_ENST00000377732.1_Splice_Site_p.V415E|PLEKHG5_ENST00000377725.1_Splice_Site_p.V378E|PLEKHG5_ENST00000377728.3_Splice_Site_p.V378E|PLEKHG5_ENST00000400913.1_Splice_Site_p.V378E|PLEKHG5_ENST00000377737.2_Splice_Site_p.V378E|PLEKHG5_ENST00000535355.1_Splice_Site_p.V447E|PLEKHG5_ENST00000377748.1_Splice_Site_p.V455E|PLEKHG5_ENST00000537245.1_Splice_Site_p.V457E	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	434	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCGCCTCCACCTGGGCGCG	0.736																																						uc001ano.1		NA																	0				liver(1)	1						c.(1300-1302)GTG>GAG		pleckstrin homology domain containing family G							8.0	9.0	9.0					1																	6531696		2150	4230	6380	SO:0001630	splice_region_variant	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6531696A>T	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1300-1T>A	1.37:g.6531696A>T						PLEKHG5_uc001ann.1_Missense_Mutation_p.V415E|PLEKHG5_uc001anq.1_Missense_Mutation_p.V455E|PLEKHG5_uc001anp.1_Missense_Mutation_p.V455E|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Missense_Mutation_p.V218E|PLEKHG5_uc010nzr.1_Missense_Mutation_p.V447E|PLEKHG5_uc001ank.1_Missense_Mutation_p.V378E|PLEKHG5_uc009vmb.1_Missense_Mutation_p.V378E|PLEKHG5_uc001anl.1_Missense_Mutation_p.V378E|PLEKHG5_uc001anm.1_Missense_Mutation_p.V378E|PLEKHG5_uc001anr.1_5'Flank	p.V434E	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	13	1402	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	434			DH.		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.1301T>A	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082646	0.76528	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.03	5.03	0.67393	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	L	0.46670	1.46	0.80722	D	1	D;D;D;D;D	0.67145	0.973;0.991;0.989;0.995;0.996	D;D;D;D;D	0.69142	0.937;0.917;0.962;0.917;0.95	T	0.60652	-0.7221	10	0.05721	T	0.95	-25.5305	13.5733	0.61860	1.0:0.0:0.0:0.0	.	447;378;455;455;434	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	E	455;378;378;434;455;415;378;378;447;378;284;457;378	ENSP00000366977:V455E;ENSP00000344570:V378E;ENSP00000383704:V378E;ENSP00000383706:V434E;ENSP00000366969:V455E;ENSP00000366961:V415E;ENSP00000366957:V378E;ENSP00000366954:V378E;ENSP00000441445:V447E;ENSP00000366966:V378E;ENSP00000439625:V457E;ENSP00000437710:V378E	ENSP00000344570:V378E	V	-	2	0	PLEKHG5	6454283	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	4.690000	0.61731	1.885000	0.54596	0.260000	0.18958	GTG		0.736	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631	Missense_Mutation	5	0	0	0	0	0	5	0				
FBXO44	93611	broad.mit.edu	37	1	11718615	11718615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:11718615G>A	ENST00000251547.5	+	4	500	c.418G>A	c.(418-420)Gac>Aac	p.D140N	FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376770.1_Missense_Mutation_p.D140N|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376768.1_Missense_Mutation_p.G130E	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	140	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTGGTGGACCTCAAGGC	0.662																																						uc001asm.2		NA																	0				ovary(1)	1						c.(418-420)GAC>AAC		F-box protein 44 isoform 1							36.0	39.0	38.0					1																	11718615		2203	4300	6503	SO:0001583	missense	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11718615G>A	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.418G>A	1.37:g.11718615G>A	ENSP00000251547:p.Asp140Asn					FBXO44_uc001ask.2_Intron|FBXO44_uc010oaq.1_3'UTR|FBXO44_uc001asl.2_Missense_Mutation_p.D140N|FBXO44_uc001asn.2_Intron|FBXO44_uc010oar.1_Missense_Mutation_p.G130E|FBXO44_uc010oas.1_Intron	p.D140N	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	544	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	140			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.418G>A	CCDS132.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.88|18.88	3.718457|3.718457	0.68844|0.68844	.|.	.|.	ENSG00000132879|ENSG00000132879	ENST00000376770;ENST00000251547|ENST00000376768	T;T|T	0.53423|0.47528	0.62;0.62|0.84	5.37|5.37	5.37|5.37	0.77165|0.77165	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);|.	.|0.155509	.|0.56097	.|D	.|0.000023	T|T	0.61702|0.61702	0.2368|0.2368	M|M	0.69358|0.69358	2.11|2.11	0.32830|0.32830	D|D	0.503958|0.503958	B|D	0.19445|0.69078	0.036|0.997	B|P	0.20184|0.60789	0.028|0.879	T|T	0.72843|0.72843	-0.4170|-0.4170	9|10	0.54805|0.66056	T|D	0.06|0.02	.|.	11.7153|11.7153	0.51650|0.51650	0.0844:0.0:0.9156:0.0|0.0844:0.0:0.9156:0.0	.|.	140|130	Q9H4M3|B7Z1P2	FBX44_HUMAN|.	N|E	140|130	ENSP00000365961:D140N;ENSP00000251547:D140N|ENSP00000365959:G130E	ENSP00000251547:D140N|ENSP00000365959:G130E	D|G	+|+	1|2	0|0	FBXO44|FBXO44	11641202|11641202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.221000|2.221000	0.42917|0.42917	2.520000|2.520000	0.84964|0.84964	0.549000|0.549000	0.68633|0.68633	GAC|GGA		0.662	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		24	5	0	0	0	0	24	5				
ECE1	1889	broad.mit.edu	37	1	21585219	21585219	+	Silent	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:21585219G>C	ENST00000374893.6	-	6	803	c.729C>G	c.(727-729)gcC>gcG	p.A243A	ECE1_ENST00000528294.1_5'Flank|ECE1_ENST00000415912.2_Silent_p.A227A|ECE1_ENST00000357071.4_Silent_p.A231A|ECE1_ENST00000264205.6_Silent_p.A240A|ECE1_ENST00000436918.2_Silent_p.A243A	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	243					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCTTGGAATCGGCACTGACAT	0.572																																						uc001bek.2		NA																	0				ovary(2)|skin(1)	3						c.(727-729)GCC>GCG		endothelin converting enzyme 1 isoform 1							165.0	131.0	142.0					1																	21585219		2203	4300	6503	SO:0001819	synonymous_variant	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21585219G>C	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.729C>G	1.37:g.21585219G>C						ECE1_uc001bem.2_Silent_p.A227A|ECE1_uc001bej.2_Silent_p.A231A|ECE1_uc001bei.2_Silent_p.A240A|ECE1_uc010odl.1_Silent_p.A243A|ECE1_uc009vqa.1_Silent_p.A243A	p.A243A	NM_001397	NP_001388	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	6	804	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	243			Extracellular (Potential).		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Silent	SNP	ENST00000374893.6	37	c.729C>G	CCDS215.1																																																																																				0.572	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		7	31	0	0	0	0	7	31				
OPRD1	4985	broad.mit.edu	37	1	29185555	29185555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:29185555G>A	ENST00000234961.2	+	2	559	c.317G>A	c.(316-318)aGt>aAt	p.S106N		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	106					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCTTTCCAGAGTGCCAAGTAC	0.537																																						uc001brf.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(316-318)AGT>AAT		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						136.0	125.0	129.0					1																	29185555		2203	4300	6503	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29185555G>A	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.317G>A	1.37:g.29185555G>A	ENSP00000234961:p.Ser106Asn						p.S106N	NM_000911	NP_000902	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	2	559	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	106			Extracellular (Potential).		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.317G>A	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247041	0.80024	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.38077	1.16	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	M	0.89715	3.055	0.54753	D	0.999987	P	0.51057	0.941	D	0.64506	0.926	T	0.73550	-0.3947	10	0.87932	D	0	.	14.6367	0.68694	0.0:0.0:1.0:0.0	.	106	P41143	OPRD_HUMAN	N	106	ENSP00000234961:S106N	ENSP00000234961:S106N	S	+	2	0	OPRD1	29058142	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.657000	0.98554	2.315000	0.78130	0.462000	0.41574	AGT		0.537	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		52	20	0	0	0	0	52	20				
COL24A1	255631	broad.mit.edu	37	1	86590952	86590952	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:86590952A>C	ENST00000370571.2	-	3	1433	c.1067T>G	c.(1066-1068)aTc>aGc	p.I356S	COL24A1_ENST00000436319.1_Missense_Mutation_p.I356S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	356					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGCCTCACTGATGCGATGAGT	0.418																																						uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1066-1068)ATC>AGC		collagen, type XXIV, alpha 1 precursor							148.0	131.0	136.0					1																	86590952		1937	4131	6068	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590952A>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1067T>G	1.37:g.86590952A>C	ENSP00000359603:p.Ile356Ser					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.I356S	p.I356S	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1109	-			356					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1067T>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.729502	0.00687	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.17054	2.3;2.3	5.26	1.62	0.23740	.	0.947262	0.08634	N	0.916537	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.18561	0.022;0.006	T	0.48758	-0.9007	10	0.21014	T	0.42	.	9.1765	0.37116	0.7007:0.0:0.2993:0.0	.	356;356	F8WDM8;Q17RW2	.;COOA1_HUMAN	S	356	ENSP00000359603:I356S;ENSP00000392531:I356S	ENSP00000359603:I356S	I	-	2	0	COL24A1	86363540	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.632000	0.24583	0.022000	0.15160	-0.371000	0.07208	ATC		0.418	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		25	19	0	0	0	0	25	19				
CELSR2	1952	broad.mit.edu	37	1	109794098	109794098	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:109794098C>T	ENST00000271332.3	+	1	1458	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	466	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GACTATGAGACGACCAAGGAG	0.547																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(1396-1398)ACG>ATG		cadherin EGF LAG seven-pass G-type receptor 2							169.0	165.0	166.0					1																	109794098		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794098C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1397C>T	1.37:g.109794098C>T	ENSP00000271332:p.Thr466Met						p.T466M	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1458	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	466			Cadherin 3.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.1397C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	9.917	1.211207	0.22289	.	.	ENSG00000143126	ENST00000271332	T	0.02552	4.25	4.69	4.69	0.59074	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01558	0.0050	L	0.50993	1.605	0.36779	D	0.88421	B	0.25351	0.124	B	0.23852	0.049	T	0.42783	-0.9431	9	0.42905	T	0.14	.	9.0029	0.36092	0.0:0.8654:0.0:0.1346	.	466	Q9HCU4	CELR2_HUMAN	M	466	ENSP00000271332:T466M	ENSP00000271332:T466M	T	+	2	0	CELSR2	109595621	0.029000	0.19370	0.989000	0.46669	0.929000	0.56500	0.918000	0.28678	2.474000	0.83562	0.456000	0.33151	ACG		0.547	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		38	113	0	0	0	0	38	113				
ZNF697	90874	broad.mit.edu	37	1	120165879	120165879	+	Missense_Mutation	SNP	C	C	T	rs373089415		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:120165879C>T	ENST00000421812.2	-	3	1206	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAACGGCGCACGAAGCCCTTG	0.746																																						uc001ehy.1		NA																	0				ovary(1)	1						c.(1087-1089)GTG>ATG		zinc finger protein 697		C	MET/VAL	0,4336		0,0,2168	8.0	8.0	8.0		1087	2.6	1.0	1		8	1,8495		0,1,4247	no	missense	ZNF697	NM_001080470.1	21	0,1,6415	TT,TC,CC		0.0118,0.0,0.0078	benign	363/546	120165879	1,12831	2168	4248	6416	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165879C>T	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1087G>A	1.37:g.120165879C>T	ENSP00000396857:p.Val363Met						p.V363M	NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	1201	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	363			C2H2-type 5.		Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.1087G>A	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	1.888	-0.456263	0.04540	0.0	1.18E-4	ENSG00000143067	ENST00000421812	T	0.35605	1.3	4.51	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	L	0.41124	1.26	0.24537	N	0.994083	B	0.29253	0.239	B	0.14023	0.01	T	0.14476	-1.0471	9	0.44086	T	0.13	.	4.7023	0.12832	0.1763:0.6254:0.0:0.1983	.	363	Q5TEC3	ZN697_HUMAN	M	363	ENSP00000396857:V363M	ENSP00000396857:V363M	V	-	1	0	ZNF697	119967402	0.000000	0.05858	1.000000	0.80357	0.004000	0.04260	-0.526000	0.06207	1.039000	0.40074	-0.251000	0.11542	GTG		0.746	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		2	1	0	0	0	0	2	1				
OR10R2	343406	broad.mit.edu	37	1	158450008	158450008	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:158450008T>C	ENST00000368152.1	+	1	341	c.341T>C	c.(340-342)tTc>tCc	p.F114S	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACAATCTCCTTCAACTGTTGT	0.438																																						uc010pik.1		NA																	0				pancreas(2)|skin(1)	3						c.(340-342)TTC>TCC		olfactory receptor, family 10, subfamily R,							386.0	321.0	343.0					1																	158450008		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450008T>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.341T>C	1.37:g.158450008T>C	ENSP00000357134:p.Phe114Ser					uc001fso.1_RNA	p.F114S	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	341	+	all_hematologic(112;0.0378)		114			Extracellular (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.341T>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	12.41	1.930942	0.34096	.	.	ENSG00000198965	ENST00000368152	T	0.00397	7.57	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.86028	2.79	0.25224	N	0.989885	D	0.53619	0.961	P	0.49829	0.623	T	0.37526	-0.9702	9	0.72032	D	0.01	.	8.5526	0.33460	0.1728:0.0:0.0:0.8272	.	114	Q8NGX6	O10R2_HUMAN	S	114	ENSP00000357134:F114S	ENSP00000357134:F114S	F	+	2	0	OR10R2	156716632	0.002000	0.14202	0.727000	0.30756	0.160000	0.22226	1.252000	0.32874	1.762000	0.52044	0.533000	0.62120	TTC		0.438	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		140	117	0	0	0	0	140	117				
OR6K2	81448	broad.mit.edu	37	1	158669969	158669969	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:158669969C>G	ENST00000359610.2	-	1	517	c.474G>C	c.(472-474)gaG>gaC	p.E158D		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCCAGGCAATCTCAGGAAGGG	0.483																																						uc001fsu.1		NA																	0				pancreas(1)	1						c.(472-474)GAG>GAC		olfactory receptor, family 6, subfamily K,							119.0	104.0	110.0					1																	158669969		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669969C>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.474G>C	1.37:g.158669969C>G	ENSP00000352626:p.Glu158Asp						p.E158D	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	474	-	all_hematologic(112;0.0378)		158			Helical; Name=4; (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.474G>C	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736445	0.49045	.	.	ENSG00000196171	ENST00000359610	T	0.00123	8.7	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	N	0.001601	T	0.00144	0.0004	L	0.58810	1.83	0.23473	N	0.99761	D	0.76494	0.999	D	0.75484	0.986	T	0.45396	-0.9264	10	0.23302	T	0.38	-5.8491	6.1342	0.20221	0.1876:0.7201:0.0:0.0923	.	158	Q8NGY2	OR6K2_HUMAN	D	158	ENSP00000352626:E158D	ENSP00000352626:E158D	E	-	3	2	OR6K2	156936593	0.000000	0.05858	1.000000	0.80357	0.937000	0.57800	-1.027000	0.03592	2.494000	0.84150	0.650000	0.86243	GAG		0.483	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		11	45	0	0	0	0	11	45				
KCNJ10	3766	broad.mit.edu	37	1	160011784	160011784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:160011784C>T	ENST00000368089.3	-	2	765	c.539G>A	c.(538-540)cGt>cAt	p.R180H	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	180					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	CTGGCTGAAACGAATGGTCTC	0.562																																					GBM(167;1368 2014 14817 36425 43215)	uc001fuw.1		NA																	0				ovary(1)	1						c.(538-540)CGT>CAT		potassium inwardly-rectifying channel, subfamily							91.0	85.0	87.0					1																	160011784		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011784C>T	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.539G>A	1.37:g.160011784C>T	ENSP00000357068:p.Arg180His						p.R180H	NM_002241	NP_002232	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	689	-	all_hematologic(112;0.093)		180			Cytoplasmic (By similarity).		A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.539G>A	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191102	0.58017	.	.	ENSG00000177807	ENST00000368089	D	0.92048	-2.96	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.179764	0.47852	D	0.000209	D	0.87822	0.6274	L	0.47190	1.495	0.37494	D	0.916492	D	0.55385	0.971	P	0.48030	0.564	D	0.89325	0.3643	10	0.72032	D	0.01	.	10.0637	0.42290	0.0:0.9115:0.0:0.0885	.	180	P78508	IRK10_HUMAN	H	180	ENSP00000357068:R180H	ENSP00000357068:R180H	R	-	2	0	KCNJ10	158278408	0.567000	0.26626	0.999000	0.59377	0.930000	0.56654	0.892000	0.28322	2.837000	0.97791	0.655000	0.94253	CGT		0.562	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		67	84	0	0	0	0	67	84				
FCGR3A	2214	broad.mit.edu	37	1	161518384	161518384	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:161518384C>T	ENST00000436743.1	-	4	300	c.146G>A	c.(145-147)gGa>gAa	p.G49E	FCGR3A_ENST00000540048.1_Missense_Mutation_p.G49E|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.G84E|FCGR3A_ENST00000367969.3_Missense_Mutation_p.G85E	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	49	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGTAGGCTCCCTGGCACTT	0.542																																						uc001gat.3		NA																	0				ovary(1)	1						c.(145-147)GGA>GAA		Fc fragment of IgG, low affinity IIIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						202.0	199.0	200.0					1																	161518384		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518384C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.146G>A	1.37:g.161518384C>T	ENSP00000416607:p.Gly49Glu					FCGR3A_uc001gar.2_Missense_Mutation_p.G85E|FCGR3A_uc001gas.2_Missense_Mutation_p.G84E|FCGR3A_uc009wuh.2_Missense_Mutation_p.G48E|FCGR3A_uc009wui.2_Missense_Mutation_p.G49E	p.G49E	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	283	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		49			Ig-like C2-type 1.|Extracellular (Potential).		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.146G>A	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.98|17.98	3.521922|3.521922	0.64747|0.64747	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	.|T;T;T;T;T;T	.|0.08102	.|3.13;3.13;3.13;3.13;3.13;3.13	4.43|4.43	4.43|4.43	0.53597|0.53597	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.46442	.|D	.|0.000299	T|T	0.19046|0.19046	0.0457|0.0457	M|M	0.81112|0.81112	2.525|2.525	0.24621|0.24621	N|N	0.993672|0.993672	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.01215|0.01215	-1.1416|-1.1416	5|10	.|0.72032	.|D	.|0.01	.|.	12.7559|12.7559	0.57335|0.57335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|49;84;49	.|P08637;E9PG94;Q9UPY7	.|FCG3A_HUMAN;.;.	K|E	66|85;84;49;49;49;48	.|ENSP00000356946:G85E;ENSP00000392047:G84E;ENSP00000416607:G49E;ENSP00000356944:G49E;ENSP00000444971:G49E;ENSP00000396567:G48E	.|ENSP00000356944:G49E	E|G	-|-	1|2	0|0	FCGR3A|FCGR3A	159785008|159785008	0.375000|0.375000	0.25089|0.25089	0.540000|0.540000	0.28089|0.28089	0.022000|0.022000	0.10575|0.10575	1.979000|1.979000	0.40608|0.40608	2.455000|2.455000	0.83008|0.83008	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.542	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		33	247	0	0	0	0	33	247				
ACBD6	84320	broad.mit.edu	37	1	180399399	180399399	+	Splice_Site	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:180399399T>A	ENST00000367595.3	-	4	1072		c.e4-2			NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6							cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CTCTGGTATCTGTGGGAAGGA	0.323																																						uc001gog.2		NA																	0				ovary(1)	1						c.e4-1		acyl-coenzyme A binding domain containing 6							110.0	106.0	107.0					1																	180399399		2203	4299	6502	SO:0001630	splice_region_variant	84320					cytoplasm|nucleus	fatty-acyl-CoA binding	g.chr1:180399399T>A	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.385-2A>T	1.37:g.180399399T>A							p.I129_splice	NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN			4	1006	-									Splice_Site	SNP	ENST00000367595.3	37	c.385_splice	CCDS1339.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847503	0.32606	.	.	ENSG00000135847	ENST00000367595	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7484	0.69505	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACBD6	178666022	1.000000	0.71417	0.373000	0.26003	0.063000	0.16089	5.576000	0.67437	1.968000	0.57251	0.533000	0.62120	.		0.323	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360	Intron	13	88	0	0	0	0	13	88				
F13B	2165	broad.mit.edu	37	1	197032145	197032145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:197032145G>A	ENST00000367412.1	-	2	150	c.107C>T	c.(106-108)gCc>gTc	p.A36V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	36	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTAATATTGGGCAATTCTTCC	0.323																																						uc001gtt.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(106-108)GCC>GTC		coagulation factor XIII B subunit precursor							105.0	119.0	114.0					1																	197032145		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197032145G>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.107C>T	1.37:g.197032145G>A	ENSP00000356382:p.Ala36Val						p.A36V	NM_001994	NP_001985	P05160	F13B_HUMAN			2	151	-			36			Sushi 1.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.107C>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659762	0.88154	.	.	ENSG00000143278	ENST00000367412	T	0.46451	0.87	5.58	5.58	0.84498	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.32987	N	0.005413	T	0.67183	0.2866	M	0.80982	2.52	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.62978	-0.6739	10	0.23891	T	0.37	.	19.5589	0.95364	0.0:0.0:1.0:0.0	.	36	P05160	F13B_HUMAN	V	36	ENSP00000356382:A36V	ENSP00000356382:A36V	A	-	2	0	F13B	195298768	1.000000	0.71417	0.996000	0.52242	0.850000	0.48378	4.735000	0.62051	2.625000	0.88918	0.655000	0.94253	GCC		0.323	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		39	250	0	0	0	0	39	250				
PIGR	5284	broad.mit.edu	37	1	207105858	207105858	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:207105858G>A	ENST00000356495.4	-	8	2134	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	651					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCACTGCCAGCACCAGGCCC	0.637																																						uc001hez.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1951-1953)CTG>TTG		polymeric immunoglobulin receptor precursor							53.0	55.0	55.0					1																	207105858		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207105858G>A		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1951C>T	1.37:g.207105858G>A						PIGR_uc009xbz.2_Silent_p.L651L	p.L651L	NM_002644	NP_002635	P01833	PIGR_HUMAN			8	2135	-			651			Helical; (Potential).		Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.1951C>T	CCDS1474.1																																																																																				0.637	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		47	65	0	0	0	0	47	65				
USH2A	7399	broad.mit.edu	37	1	216348641	216348641	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:216348641T>C	ENST00000307340.3	-	21	4966	c.4580A>G	c.(4579-4581)tAt>tGt	p.Y1527C	USH2A_ENST00000366943.2_Missense_Mutation_p.Y1527C|USH2A_ENST00000366942.3_Missense_Mutation_p.Y1527C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1527	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAATTTACAATACCCATTTCC	0.423										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4579-4581)TAT>TGT		usherin isoform B							93.0	70.0	78.0					1																	216348641		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216348641T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4580A>G	1.37:g.216348641T>C	ENSP00000305941:p.Tyr1527Cys	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.Y1527C	p.Y1527C	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	21	4967	-			1527			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4580A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.726716	0.69074	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;T	0.82255	-1.59;-1.59;1.76	5.89	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (1);	0.000000	0.40818	N	0.001017	D	0.89767	0.6810	M	0.75264	2.295	0.47949	D	0.999556	D;P	0.89917	1.0;0.89	D;B	0.83275	0.996;0.286	D	0.89465	0.3739	10	0.54805	T	0.06	.	11.7592	0.51892	0.0:0.0686:0.0:0.9313	.	1527;1527	O75445-2;O75445	.;USH2A_HUMAN	C	1527	ENSP00000305941:Y1527C;ENSP00000355910:Y1527C;ENSP00000355909:Y1527C	ENSP00000305941:Y1527C	Y	-	2	0	USH2A	214415264	1.000000	0.71417	0.764000	0.31436	0.968000	0.65278	3.969000	0.56816	1.041000	0.40125	0.519000	0.50382	TAT		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	55	0	0	0	0	10	55				
AKR1C4	1109	broad.mit.edu	37	10	5247720	5247720	+	Splice_Site	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:5247720C>A	ENST00000380448.1	+	6	623	c.370C>A	c.(370-372)Cca>Aca	p.P124T	AKR1C4_ENST00000263126.1_Splice_Site_p.P124T			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	124					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						TCTACTTCAGCCAGGTGAGAC	0.448																																						uc001ihw.2		NA																	0				ovary(1)	1						c.(370-372)CCA>ACA		aldo-keto reductase family 1, member C4	NADH(DB00157)						112.0	94.0	100.0					10																	5247720		2203	4300	6503	SO:0001630	splice_region_variant	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5247720C>A	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.370-1C>A	10.37:g.5247720C>A							p.P124T	NM_001818	NP_001809	P17516	AK1C4_HUMAN			4	403	+			124					Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.370C>A	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	c	17.07	3.294479	0.60086	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.28666	1.6;1.6	2.9	2.9	0.33743	NADP-dependent oxidoreductase domain (3);	0.000000	0.64402	D	0.000013	T	0.41003	0.1140	L	0.42529	1.33	0.51767	D	0.999936	P	0.50943	0.94	P	0.61477	0.889	T	0.14839	-1.0458	9	.	.	.	.	11.9485	0.52942	0.0:1.0:0.0:0.0	.	124	P17516	AK1C4_HUMAN	T	124	ENSP00000369814:P124T;ENSP00000263126:P124T	.	P	+	1	0	AKR1C4	5237720	1.000000	0.71417	0.949000	0.38748	0.102000	0.19082	2.525000	0.45598	1.550000	0.49438	0.491000	0.48974	CCA		0.448	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818	Missense_Mutation	20	4	1	0	1.01e-13	1.18e-13	20	4				
GPRIN2	9721	broad.mit.edu	37	10	46999984	46999984	+	Silent	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:46999984G>T	ENST00000374317.1	+	3	1377	c.1104G>T	c.(1102-1104)ctG>ctT	p.L368L	GPRIN2_ENST00000374314.4_Silent_p.L368L	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	368										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGTAACTCTGGGGTCCAGCC	0.672																																						uc001jec.2		NA																	0					0						c.(1102-1104)CTG>CTT		G protein-regulated inducer of neurite outgrowth							137.0	122.0	128.0					10																	46999984		2203	4300	6503	SO:0001819	synonymous_variant	9721							g.chr10:46999984G>T	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1104G>T	10.37:g.46999984G>T						GPRIN2_uc010qfq.1_Silent_p.L131L	p.L368L	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	1239	+			368					Q5SVF0	Silent	SNP	ENST00000374317.1	37	c.1104G>T	CCDS31192.1																																																																																				0.672	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		10	85	1	0	7.48e-07	8.28e-07	10	85				
ZNF511	118472	broad.mit.edu	37	10	135123687	135123687	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:135123687G>A	ENST00000359035.3	+	4	452	c.449G>A	c.(448-450)gGc>gAc	p.G150D	ZNF511_ENST00000368554.4_Missense_Mutation_p.G85D|TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000417178.2_5'Flank|TUBGCP2_ENST00000368563.2_5'Flank|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Missense_Mutation_p.G150D			Q8NB15	ZN511_HUMAN	zinc finger protein 511	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TTGGTAGAAGGCTGCACAGAG	0.582																																						uc001lml.1		NA																	0					0						c.(448-450)GGC>GAC		SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d;							114.0	118.0	117.0					10																	135123687		2203	4300	6503	SO:0001583	missense	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135123687G>A	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.449G>A	10.37:g.135123687G>A	ENSP00000351929:p.Gly150Asp					TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_Intron|ZNF511_uc001lmj.1_Missense_Mutation_p.G150D|ZNF511_uc001lmk.1_Missense_Mutation_p.G150D|ZNF511_uc001lmm.1_RNA	p.G150D			Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	4	474	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	150			C2H2-type 3.		A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.449G>A		.	.	.	.	.	.	.	.	.	.	G	22.9	4.351049	0.82132	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	T;T;T	0.56275	0.47;0.47;0.47	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.100004	0.64402	D	0.000002	T	0.65790	0.2725	L	0.50847	1.595	0.44966	D	0.99798	D;D;P	0.63046	0.962;0.992;0.876	P;P;P	0.62298	0.701;0.9;0.539	T	0.63620	-0.6596	10	0.44086	T	0.13	-12.2493	18.0835	0.89451	0.0:0.0:1.0:0.0	.	150;85;150	Q8NB15;E1U340;Q8NB15-2	ZN511_HUMAN;.;.	D	150;150;85	ENSP00000355251:G150D;ENSP00000351929:G150D;ENSP00000357542:G85D	ENSP00000351929:G150D	G	+	2	0	ZNF511	134973677	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.068000	0.76748	2.701000	0.92244	0.655000	0.94253	GGC		0.582	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		52	72	0	0	0	0	52	72				
MRPL23	6150	broad.mit.edu	37	11	1973401	1973401	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:1973401A>G	ENST00000397298.3	+	3	270	c.185A>G	c.(184-186)aAc>aGc	p.N62S	MRPL23_ENST00000381519.1_Missense_Mutation_p.N62S|MRPL23_ENST00000397297.3_Missense_Mutation_p.N62S|MRPL23_ENST00000381514.3_Missense_Mutation_p.N62S|MRPL23_ENST00000397294.3_Missense_Mutation_p.N62S	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	62					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCATCTATAACGTGCCCGTG	0.552																																						uc001lux.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(184-186)AAC>AGC		mitochondrial ribosomal protein L23							73.0	65.0	68.0					11																	1973401		2201	4299	6500	SO:0001583	missense	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1973401A>G	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.185A>G	11.37:g.1973401A>G	ENSP00000380466:p.Asn62Ser						p.N62S	NM_021134	NP_066957	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	3	276	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	62					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.185A>G	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	A	5.661	0.306634	0.10733	.	.	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	3.87	1.51	0.23008	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.505254	0.20413	U	0.092835	T	0.33789	0.0875	L	0.47016	1.485	0.09310	N	1	B	0.25667	0.131	B	0.29353	0.101	T	0.27434	-1.0074	10	0.52906	T	0.07	.	7.3848	0.26876	0.633:0.0:0.367:0.0	.	62	Q16540	RM23_HUMAN	S	62	ENSP00000380466:N62S;ENSP00000370930:N62S;ENSP00000380465:N62S;ENSP00000370925:N62S;ENSP00000380462:N62S	ENSP00000370925:N62S	N	+	2	0	MRPL23	1929977	0.035000	0.19736	0.002000	0.10522	0.024000	0.10985	1.011000	0.29911	0.198000	0.20407	0.402000	0.26972	AAC		0.552	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		25	20	0	0	0	0	25	20				
VPS37C	55048	broad.mit.edu	37	11	60901634	60901634	+	Missense_Mutation	SNP	G	G	A	rs144006897		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:60901634G>A	ENST00000301765.5	-	3	371	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	47					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GCCAGGCTCCGGTTGGTGGCC	0.582																																						uc001nqv.1		NA																	0					0						c.(139-141)CGG>TGG		vacuolar protein sorting 37C		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	66.0	66.0		139	5.3	1.0	11	dbSNP_134	66	1,8597	1.2+/-3.3	0,1,4298	yes	missense	VPS37C	NM_017966.4	101	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	47/356	60901634	2,13002	2203	4299	6502	SO:0001583	missense	55048				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr11:60901634G>A	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.139C>T	11.37:g.60901634G>A	ENSP00000301765:p.Arg47Trp					VPS37C_uc001nqw.1_Missense_Mutation_p.R47W	p.R47W	NM_017966	NP_060436	A5D8V6	VP37C_HUMAN			3	199	-			47					Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	c.139C>T	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225553	0.79576	2.27E-4	1.16E-4	ENSG00000167987	ENST00000301765;ENST00000540084;ENST00000538036	T;T	0.78364	-1.17;-1.17	5.3	5.3	0.74995	Modifier of rudimentary, Modr (1);	0.000000	0.85682	D	0.000000	D	0.88994	0.6589	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90481	0.4460	10	0.87932	D	0	-31.0284	17.1334	0.86732	0.0:0.0:1.0:0.0	.	47;47	B4DYD9;A5D8V6	.;VP37C_HUMAN	W	47	ENSP00000301765:R47W;ENSP00000446013:R47W	ENSP00000301765:R47W	R	-	1	2	VPS37C	60658210	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	5.525000	0.67110	2.496000	0.84212	0.491000	0.48974	CGG		0.582	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966		22	62	0	0	0	0	22	62				
KLC2	64837	broad.mit.edu	37	11	66031616	66031616	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:66031616C>T	ENST00000417856.1	+	8	1285	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	KLC2_ENST00000421552.1_Missense_Mutation_p.R271W|KLC2_ENST00000394067.2_Missense_Mutation_p.R348W|KLC2_ENST00000394066.2_Missense_Mutation_p.R271W|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394065.2_Missense_Mutation_p.R209W|KLC2_ENST00000316924.5_Missense_Mutation_p.R348W|RP11-867G23.1_ENST00000530805.1_RNA|RP11-755F10.3_ENST00000533576.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	348					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATATTACTATCGGCGGGCACT	0.587																																						uc010rov.1		NA																	0					0						c.(1042-1044)CGG>TGG		kinesin light chain 2 isoform 1							26.0	23.0	24.0					11																	66031616		2200	4294	6494	SO:0001583	missense	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66031616C>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1042C>T	11.37:g.66031616C>T	ENSP00000399403:p.Arg348Trp					KLC2_uc010row.1_Missense_Mutation_p.R348W|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R348W|KLC2_uc010rox.1_Missense_Mutation_p.R271W|KLC2_uc001ohc.2_Missense_Mutation_p.R348W|KLC2_uc001ohd.2_Missense_Mutation_p.R271W|KLC2_uc001ohe.1_Missense_Mutation_p.R209W	p.R348W	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN			8	1285	+			348			TPR 4.		A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	c.1042C>T	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232386	0.39498	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	4.09	3.16	0.36331	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.084820	0.45361	D	0.000370	D	0.96479	0.8851	M	0.82056	2.57	0.45580	D	0.998522	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.65233	0.933;0.806;0.916	D	0.96308	0.9226	10	0.87932	D	0	-25.8792	11.9556	0.52978	0.1756:0.8244:0.0:0.0	.	209;271;348	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	W	348;348;348;271;271;209	ENSP00000399403:R348W;ENSP00000377631:R348W;ENSP00000314837:R348W;ENSP00000408484:R271W;ENSP00000377630:R271W;ENSP00000377629:R209W	ENSP00000314837:R348W	R	+	1	2	KLC2	65788192	0.994000	0.37717	1.000000	0.80357	0.129000	0.20672	0.366000	0.20365	0.906000	0.36621	0.555000	0.69702	CGG		0.587	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		3	1	0	0	0	0	3	1				
GPR152	390212	broad.mit.edu	37	11	67219165	67219165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:67219165G>A	ENST00000312457.2	-	1	1035	c.1031C>T	c.(1030-1032)cCg>cTg	p.P344L	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	344						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P344L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTCTGCCATCGGCTCTGGCAG	0.637																																					Pancreas(102;800 1581 2723 7382 33622)	uc001olm.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1030-1032)CCG>CTG		G protein-coupled receptor 152							45.0	42.0	43.0					11																	67219165		2200	4295	6495	SO:0001583	missense	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219165G>A	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.1031C>T	11.37:g.67219165G>A	ENSP00000310255:p.Pro344Leu					uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	p.P344L	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	1036	-			344			Cytoplasmic (Potential).		Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	c.1031C>T	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615843	0.46631	.	.	ENSG00000175514	ENST00000312457	T	0.17213	2.29	4.02	1.06	0.20224	.	0.597232	0.12963	N	0.424822	T	0.25344	0.0616	L	0.29908	0.895	0.09310	N	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.10177	-1.0641	10	0.62326	D	0.03	.	7.1952	0.25849	0.3137:0.0:0.6863:0.0	.	344	Q8TDT2	GP152_HUMAN	L	344	ENSP00000310255:P344L	ENSP00000310255:P344L	P	-	2	0	GPR152	66975741	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.425000	0.07017	0.113000	0.18004	0.491000	0.48974	CCG		0.637	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			12	31	0	0	0	0	12	31				
MMP12	4321	broad.mit.edu	37	11	102734976	102734976	+	RNA	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:102734976C>T	ENST00000532855.1	-	0	1308							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGTCTCCTTTCATCATACCTG	0.448																																						uc001phk.2		NA																	0					0						c.(1213-1215)GAA>AAA		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						89.0	83.0	85.0					11																	102734976		1905	4119	6024			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102734976C>T	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102734976C>T							p.E405K	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	10	1258	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	405			Hemopexin-like 3.		B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37	c.1213G>A																																																																																					0.448	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		5	21	0	0	0	0	5	21				
CACNA2D4	93589	broad.mit.edu	37	12	1963138	1963138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:1963138G>A	ENST00000382722.5	-	23	2587	c.2225C>T	c.(2224-2226)gCg>gTg	p.A742V	CACNA2D4_ENST00000539048.2_Intron|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A678V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A603V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A678V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A742V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A717V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	742					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAGGGCCAGCGCTGTCCAGTA	0.617																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	0				ovary(1)	1						c.(2224-2226)GCG>GTG		voltage-gated calcium channel alpha(2)delta-4							47.0	56.0	53.0					12																	1963138		2051	4188	6239	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1963138G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2225C>T	12.37:g.1963138G>A	ENSP00000372169:p.Ala742Val					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A606V|CACNA2D4_uc009zdr.1_RNA	p.A742V	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	23	2456	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	742			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.2225C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	7.866	0.727093	0.15439	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.30448	1.53	5.4	4.5	0.54988	.	0.056034	0.64402	D	0.000001	T	0.24624	0.0597	L	0.60455	1.87	0.09310	N	1	B;P	0.43750	0.26;0.816	B;B	0.34242	0.103;0.178	T	0.16512	-1.0400	10	0.27785	T	0.31	.	9.8955	0.41316	0.0:0.1619:0.6876:0.1506	.	742;742	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	V	678;742;742	ENSP00000372169:A742V	ENSP00000280663:A742V	A	-	2	0	CACNA2D4	1833399	0.064000	0.20934	0.090000	0.20809	0.167000	0.22549	2.185000	0.42584	1.270000	0.44297	0.655000	0.94253	GCG		0.617	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			4	15	0	0	0	0	4	15				
VWF	7450	broad.mit.edu	37	12	6055399	6055399	+	IGR	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:6055399G>A	ENST00000261405.5	-	0	8838				ANO2_ENST00000546188.1_5'Flank|ANO2_ENST00000327087.8_5'Flank|ANO2_ENST00000356134.5_5'Flank	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGAGCCTGGGGAAGCAAAGG	0.473																																						uc001qnm.2		NA																	0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.e1-1		anoctamin 2							91.0	71.0	77.0					12																	6055399		692	1591	2283	SO:0001628	intergenic_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:6055399G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265		12.37:g.6055399G>A								NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			1	1	-								Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	c.-71_splice	CCDS8539.1																																																																																				0.473	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	45	0	0	0	0	3	45				
ACSM4	341392	broad.mit.edu	37	12	7469736	7469736	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:7469736C>T	ENST00000399422.4	+	4	672	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	208					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.F208F(2)		endometrium(6)|kidney(1)|lung(14)	21						TTTGCAGATTCGCCTCTGAAG	0.483																																						uc001qsx.1		NA																	2	Substitution - coding silent(2)		kidney(2)		0						c.(622-624)TTC>TTT		acyl-CoA synthetase medium-chain family member 4							60.0	62.0	61.0					12																	7469736		2053	4202	6255	SO:0001819	synonymous_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7469736C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.624C>T	12.37:g.7469736C>T							p.F208F	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			4	624	+			208					A8MTI6	Silent	SNP	ENST00000399422.4	37	c.624C>T	CCDS44825.1																																																																																				0.483	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		10	23	0	0	0	0	10	23				
ATF7IP	55729	broad.mit.edu	37	12	14591118	14591118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:14591118G>A	ENST00000540793.1	+	4	2001	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D616N|ATF7IP_ENST00000544627.1_Missense_Mutation_p.D624N|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D615N|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D615N			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	616	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGCTGTATTTGATAAGACTTT	0.383																																						uc001rbw.2		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.(1846-1848)GAT>AAT		activating transcription factor 7 interacting							108.0	104.0	106.0					12																	14591118		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14591118G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1846G>A	12.37:g.14591118G>A	ENSP00000444589:p.Asp616Asn					ATF7IP_uc010shs.1_Missense_Mutation_p.D615N|ATF7IP_uc001rbu.2_Missense_Mutation_p.D616N|ATF7IP_uc001rbv.1_Missense_Mutation_p.D615N|ATF7IP_uc001rbx.2_Missense_Mutation_p.D615N|ATF7IP_uc010sht.1_Missense_Mutation_p.D616N|ATF7IP_uc001rby.3_Missense_Mutation_p.D616N|ATF7IP_uc001rca.2_Missense_Mutation_p.D616N	p.D616N	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			5	2004	+			616			Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1846G>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094714	0.94149	.	.	ENSG00000171681	ENST00000261168;ENST00000538511;ENST00000545723;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.65178	1.01;-0.14;1.01;1.0;1.01	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000002	T	0.78483	0.4290	M	0.61703	1.905	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;0.999;0.999;1.0;1.0	T	0.79729	-0.1681	10	0.87932	D	0	-23.2534	19.1905	0.93664	0.0:0.0:1.0:0.0	.	624;615;615;616;615;227	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	N	616;55;123;615;615;624;616	ENSP00000261168:D616N;ENSP00000443179:D615N;ENSP00000445955:D615N;ENSP00000440440:D624N;ENSP00000444589:D616N	ENSP00000261168:D616N	D	+	1	0	ATF7IP	14482385	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.365000	0.73090	2.635000	0.89317	0.563000	0.77884	GAT		0.383	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		10	36	0	0	0	0	10	36				
PTPRO	5800	broad.mit.edu	37	12	15669884	15669884	+	Silent	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:15669884A>T	ENST00000281171.4	+	9	2103	c.1773A>T	c.(1771-1773)gcA>gcT	p.A591A	PTPRO_ENST00000543886.1_Silent_p.A591A|PTPRO_ENST00000348962.2_Silent_p.A591A	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	591	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCTTAACTGCATCCGTGGTAA	0.373																																						uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(1771-1773)GCA>GCT		receptor-type protein tyrosine phosphatase O							219.0	183.0	195.0					12																	15669884		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15669884A>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1773A>T	12.37:g.15669884A>T						PTPRO_uc001rcw.1_Silent_p.A591A|PTPRO_uc001rcu.1_Silent_p.A591A	p.A591A	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			9	1947	+		Hepatocellular(102;0.244)	591			Fibronectin type-III 6.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.1773A>T	CCDS8675.1																																																																																				0.373	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			59	82	0	0	0	0	59	82				
PLCZ1	89869	broad.mit.edu	37	12	18872484	18872484	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:18872484A>G	ENST00000266505.7	-	5	713	c.450T>C	c.(448-450)tgT>tgC	p.C150C	PLCZ1_ENST00000447925.2_Silent_p.C148C|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000541695.1_Silent_p.C13C|PLCZ1_ENST00000435379.1_Intron					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAACTTTTCTACATTCATTTT	0.279																																						uc010sid.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(448-450)TGT>TGC		phospholipase C, zeta 1							56.0	55.0	56.0					12																	18872484		2201	4282	6483	SO:0001819	synonymous_variant	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18872484A>G	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.450T>C	12.37:g.18872484A>G						PLCZ1_uc001rdv.3_Silent_p.C46C|PLCZ1_uc001rdw.3_Intron|PLCZ1_uc009zil.1_RNA	p.C150C	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			5	641	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		150						Silent	SNP	ENST00000266505.7	37	c.450T>C	CCDS8680.1																																																																																				0.279	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123		3	17	0	0	0	0	3	17				
ST8SIA1	6489	broad.mit.edu	37	12	22487097	22487097	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:22487097G>A	ENST00000396037.4	-	1	551	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S	ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.P24S|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.P24S|ST8SIA1_ENST00000536558.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	24					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CGGGTCCGCGGGAACTTCCAC	0.692																																						uc001rfo.3		NA																	0				ovary(3)	3						c.(70-72)CCG>TCG		alpha-2,8-sialyltransferase 1							68.0	69.0	69.0					12																	22487097		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487097G>A	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.70C>T	12.37:g.22487097G>A	ENSP00000379353:p.Pro24Ser					ST8SIA1_uc009zix.2_5'UTR|uc001rfp.1_Intron	p.P24S	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			1	552	-			24			Cytoplasmic (Potential).		A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.70C>T	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293624	0.60086	.	.	ENSG00000111728	ENST00000396037;ENST00000541868;ENST00000404299;ENST00000381424	T;T	0.52295	1.87;0.67	4.58	4.58	0.56647	.	0.403904	0.28393	N	0.015512	T	0.43055	0.1230	L	0.50333	1.59	0.80722	D	1	B	0.27823	0.19	B	0.27076	0.076	T	0.31696	-0.9934	10	0.30854	T	0.27	-13.8732	15.0574	0.71925	0.0:0.0:1.0:0.0	.	24	Q92185	SIA8A_HUMAN	S	24;1;24;24	ENSP00000379353:P24S;ENSP00000440292:P1S	ENSP00000261197:P24S	P	-	1	0	ST8SIA1	22378364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.625000	0.67770	2.504000	0.84457	0.655000	0.94253	CCG		0.692	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		67	85	0	0	0	0	67	85				
PTPRB	5787	broad.mit.edu	37	12	70925945	70925945	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:70925945C>A	ENST00000261266.5	-	30	5749	c.5720G>T	c.(5719-5721)gGt>gTt	p.G1907V	PTPRB_ENST00000538708.1_Missense_Mutation_p.G1817V|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1817V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1817V|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.G2037V|PTPRB_ENST00000334414.6_Missense_Mutation_p.G2125V|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1907	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCTACCCACACCAGCACTAGA	0.433																																						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(5719-5721)GGT>GTT		protein tyrosine phosphatase, receptor type, B							84.0	79.0	80.0					12																	70925945		1912	4120	6032	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70925945C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5720G>T	12.37:g.70925945C>A	ENSP00000261266:p.Gly1907Val					uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.G1817V|PTPRB_uc010stp.1_Missense_Mutation_p.G1817V|PTPRB_uc001swc.3_Missense_Mutation_p.G2125V|PTPRB_uc001swa.3_Missense_Mutation_p.G2037V	p.G1907V	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		30	5750	-	Renal(347;0.236)		1907			Cytoplasmic (Potential).|Substrate binding (By similarity).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5720G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561823	0.86335	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.41	5.41	0.78517	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.051373	0.85682	D	0.000000	D	0.92273	0.7549	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.94891	0.8048	10	0.87932	D	0	.	19.5664	0.95395	0.0:1.0:0.0:0.0	.	1817;1817;2125;1907;2037	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	V	2125;1817;2037;1817;1817;1907	ENSP00000334928:G2125V;ENSP00000393028:G1817V;ENSP00000448058:G2037V;ENSP00000438927:G1817V;ENSP00000447302:G1817V;ENSP00000261266:G1907V	ENSP00000261266:G1907V	G	-	2	0	PTPRB	69212212	1.000000	0.71417	0.980000	0.43619	0.981000	0.71138	7.426000	0.80270	2.709000	0.92574	0.655000	0.94253	GGT		0.433	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			11	28	1	0	5.51e-06	5.98e-06	11	28				
PTPRR	5801	broad.mit.edu	37	12	71078046	71078046	+	Splice_Site	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:71078046T>A	ENST00000283228.2	-	10	1812		c.e10-2		PTPRR_ENST00000549308.1_Splice_Site|PTPRR_ENST00000378778.1_Splice_Site|PTPRR_ENST00000440835.2_Splice_Site|PTPRR_ENST00000342084.4_Splice_Site	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACTGTAGCCCTAGATGGAGTA	0.453																																						uc001swi.1		NA																	0				skin(2)|ovary(1)	3						c.e10-1		protein tyrosine phosphatase, receptor type, R							83.0	75.0	78.0					12																	71078046		2203	4300	6503	SO:0001630	splice_region_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71078046T>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1360-2A>T	12.37:g.71078046T>A						PTPRR_uc001swh.1_Splice_Site_p.G209_splice|PTPRR_uc009zrs.2_Splice_Site_p.G303_splice|PTPRR_uc010stq.1_Splice_Site_p.G342_splice|PTPRR_uc010str.1_Splice_Site_p.G303_splice	p.G454_splice	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	10	1776	-								B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Splice_Site	SNP	ENST00000283228.2	37	c.1360_splice	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744732	0.49151	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6524	0.77108	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRR	69364313	1.000000	0.71417	0.895000	0.35142	0.428000	0.31595	7.482000	0.81143	2.182000	0.69389	0.460000	0.39030	.		0.453	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	Intron	14	27	0	0	0	0	14	27				
HCFC2	29915	broad.mit.edu	37	12	104492210	104492210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:104492210G>T	ENST00000229330.4	+	13	1934	c.1830G>T	c.(1828-1830)ttG>ttT	p.L610F	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	610	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATACAGCTTTGGTGAGCCAGT	0.378																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1828-1830)TTG>TTT		host cell factor C2							54.0	60.0	58.0					12																	104492210		2203	4300	6503	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104492210G>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1830G>T	12.37:g.104492210G>T	ENSP00000229330:p.Leu610Phe					HCFC2_uc009zul.2_RNA	p.L610F	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			13	1933	+			610			Fibronectin type-III 2.		B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.1830G>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120589	0.56613	.	.	ENSG00000111727	ENST00000229330	T	0.01947	4.54	5.56	3.68	0.42216	Fibronectin, type III (3);	0.378699	0.24973	N	0.034123	T	0.02304	0.0071	L	0.46157	1.445	0.30697	N	0.750743	P	0.44578	0.838	B	0.36030	0.216	T	0.31641	-0.9936	10	0.45353	T	0.12	-7.8647	7.7535	0.28911	0.1401:0.0:0.7268:0.1332	.	610	Q9Y5Z7	HCFC2_HUMAN	F	610	ENSP00000229330:L610F	ENSP00000229330:L610F	L	+	3	2	HCFC2	103016340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.258000	0.32944	1.363000	0.46019	0.650000	0.86243	TTG		0.378	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		30	42	1	0	3.74e-18	4.44e-18	30	42				
KIAA1033	23325	broad.mit.edu	37	12	105536970	105536970	+	Silent	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:105536970T>C	ENST00000332180.5	+	20	2046	c.1959T>C	c.(1957-1959)taT>taC	p.Y653Y		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TAGAGTCCTATGAGATACTTC	0.333																																						uc001tld.2		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(1957-1959)TAT>TAC		hypothetical protein LOC23325							82.0	74.0	77.0					12																	105536970		1857	4106	5963	SO:0001819	synonymous_variant	23325				endosome transport	WASH complex		g.chr12:105536970T>C	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1959T>C	12.37:g.105536970T>C						KIAA1033_uc010swr.1_Silent_p.Y654Y|KIAA1033_uc010sws.1_Silent_p.Y465Y	p.Y653Y	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			20	2046	+			653						Silent	SNP	ENST00000332180.5	37	c.1959T>C	CCDS41826.1																																																																																				0.333	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		3	32	0	0	0	0	3	32				
NUAK1	9891	broad.mit.edu	37	12	106461007	106461007	+	Missense_Mutation	SNP	C	C	T	rs117517173	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:106461007C>T	ENST00000261402.2	-	7	2938	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	520					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCCCTTCCTCCGGCAGGAGAG	0.607													C|||	2	0.000399361	0.0	0.0	5008	,	,		16733	0.0		0.002	False		,,,				2504	0.0					uc001tlj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1558-1560)CGG>CAG		AMPK-related protein kinase 5		C	GLN/ARG	0,4406		0,0,2203	59.0	66.0	63.0		1559	4.4	1.0	12	dbSNP_132	63	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NUAK1	NM_014840.2	43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	520/662	106461007	4,13002	2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106461007C>T	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1559G>A	12.37:g.106461007C>T	ENSP00000261402:p.Arg520Gln						p.R520Q	NM_014840	NP_055655	O60285	NUAK1_HUMAN			7	2939	-			520					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1559G>A	CCDS31892.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	16.05	3.012528	0.54468	0.0	4.65E-4	ENSG00000074590	ENST00000261402	T	0.73363	-0.74	5.34	4.45	0.53987	.	0.000000	0.53938	D	0.000058	T	0.66538	0.2799	L	0.56769	1.78	0.44956	D	0.997976	D	0.53312	0.959	B	0.38985	0.287	T	0.65302	-0.6201	10	0.13470	T	0.59	.	14.2662	0.66121	0.0:0.928:0.0:0.072	.	520	O60285	NUAK1_HUMAN	Q	520	ENSP00000261402:R520Q	ENSP00000261402:R520Q	R	-	2	0	NUAK1	104985137	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	4.518000	0.60510	1.250000	0.43966	0.462000	0.41574	CGG		0.607	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		4	96	0	0	0	0	4	96				
DDX54	79039	broad.mit.edu	37	12	113599728	113599728	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:113599728C>G	ENST00000306014.5	-	18	2297	c.2270G>C	c.(2269-2271)cGc>cCc	p.R757P	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Missense_Mutation_p.R757P	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	757					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTGATGTAGCGGCCGCTCTC	0.582																																						uc001tup.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2269-2271)CGC>CCC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							157.0	144.0	148.0					12																	113599728		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599728C>G	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2270G>C	12.37:g.113599728C>G	ENSP00000304072:p.Arg757Pro					DDX54_uc001tuq.3_Missense_Mutation_p.R757P	p.R757P	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			18	2298	-			757					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.2270G>C	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.704808	0.48412	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.09817	2.94;2.94	4.74	1.9	0.25705	DBP10CT (2);	0.335793	0.29838	N	0.011070	T	0.10035	0.0246	L	0.44542	1.39	0.37933	D	0.932062	P;P	0.37122	0.528;0.583	B;B	0.41646	0.333;0.362	T	0.24941	-1.0146	10	0.31617	T	0.26	.	5.7958	0.18385	0.0:0.6118:0.1417:0.2464	.	757;757	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	P	757	ENSP00000323858:R757P;ENSP00000304072:R757P	ENSP00000304072:R757P	R	-	2	0	DDX54	112084111	1.000000	0.71417	0.978000	0.43139	0.498000	0.33706	1.634000	0.37123	0.435000	0.26365	0.491000	0.48974	CGC		0.582	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		48	92	0	0	0	0	48	92				
RIMBP2	23504	broad.mit.edu	37	12	130898786	130898786	+	Missense_Mutation	SNP	C	C	T	rs138034003		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:130898786C>T	ENST00000261655.4	-	14	2699	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	846					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E846K(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAGCTCTTCGGCACCAGGG	0.567																																						uc001uil.2		NA																	1	Substitution - Missense(1)		central_nervous_system(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2536-2538)GAA>AAA		RIM-binding protein 2		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	71.0	79.0	76.0		2536	4.5	0.6	12	dbSNP_134	76	0,8600		0,0,4300	no	missense	RIMBP2	NM_015347.4	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	846/1053	130898786	1,13005	2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130898786C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2536G>A	12.37:g.130898786C>T	ENSP00000261655:p.Glu846Lys						p.E846K	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	14	2700	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	846					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2536G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841807	0.51057	2.27E-4	0.0	ENSG00000060709	ENST00000261655	T	0.29917	1.55	4.49	4.49	0.54785	Src homology-3 domain (1);	0.332281	0.21782	N	0.069187	T	0.28962	0.0719	M	0.71581	2.175	0.80722	D	1	P	0.43633	0.813	B	0.30029	0.11	T	0.29579	-1.0007	10	0.18710	T	0.47	-15.0263	17.5499	0.87872	0.0:1.0:0.0:0.0	.	846	O15034	RIMB2_HUMAN	K	846	ENSP00000261655:E846K	ENSP00000261655:E846K	E	-	1	0	RIMBP2	129464739	1.000000	0.71417	0.630000	0.29268	0.600000	0.36913	7.749000	0.85096	2.183000	0.69458	0.650000	0.86243	GAA		0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		29	57	0	0	0	0	29	57				
FLT1	2321	broad.mit.edu	37	13	28896990	28896990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:28896990C>T	ENST00000282397.4	-	21	3141	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	FLT1_ENST00000543394.1_5'Flank|FLT1_ENST00000540678.1_Missense_Mutation_p.E182K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	964	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAAAGCTTTCGCTGCTGGTG	0.478																																						uc001usb.3		NA																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2890-2892)GAA>AAA		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						202.0	181.0	188.0					13																	28896990		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28896990C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2890G>A	13.37:g.28896990C>T	ENSP00000282397:p.Glu964Lys					FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.E89K|FLT1_uc001usa.3_Missense_Mutation_p.E182K	p.E964K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	21	3175	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	964			Cytoplasmic (Potential).|Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2890G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293290	0.40594	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	T;T	0.76968	-0.83;-1.06	5.9	5.05	0.67936	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.238816	0.43110	D	0.000619	T	0.70369	0.3216	N	0.25245	0.725	0.80722	D	1	D	0.69078	0.997	P	0.52758	0.708	T	0.66484	-0.5912	10	0.08179	T	0.78	.	12.2569	0.54629	0.1339:0.7373:0.1288:0.0	.	964	P17948	VGFR1_HUMAN	K	964;182	ENSP00000282397:E964K;ENSP00000443311:E182K	ENSP00000282397:E964K	E	-	1	0	FLT1	27794990	0.990000	0.36364	0.991000	0.47740	0.693000	0.40251	2.844000	0.48246	1.497000	0.48584	0.556000	0.70494	GAA		0.478	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			4	109	0	0	0	0	4	109				
FREM2	341640	broad.mit.edu	37	13	39266020	39266021	+	Nonsense_Mutation	DNP	TG	TG	CT			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:39266020_39266021TG>CT	ENST00000280481.7	+	1	4755_4756	c.4539_4540TG>CT	c.(4537-4542)gaTGga>gaCTga	p.G1514*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1514					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAGTCACCGATGGACGTAACCC	0.45																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(4537-4542)GATGGA>GACTGA		FRAS1-related extracellular matrix protein 2																																				SO:0001587	stop_gained	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39266020_39266021TG>CT	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	Exception_encountered	13.37:g.39266020_39266021delinsCT	ENSP00000280481:p.Gly1514*						p.G1514*	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4848_4849	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1514			Extracellular (Potential).|CSPG 10.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Nonsense_Mutation	DNP	ENST00000280481.7	37	c.4539_4540TG>CT	CCDS31960.1																																																																																				0.450	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		18	57	0	0	0	0	18	57				
DPF3	8110	broad.mit.edu	37	14	73198527	73198527	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr14:73198527G>C	ENST00000556509.1	-	4	416	c.417C>G	c.(415-417)atC>atG	p.I139M	DPF3_ENST00000546183.1_Missense_Mutation_p.I149M|DPF3_ENST00000541685.1_Missense_Mutation_p.I139M	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	139					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTATTTCCTGGATGCTTTCCT	0.577																																						uc001xnc.2		NA																	0				ovary(1)	1						c.(415-417)ATC>ATG		D4, zinc and double PHD fingers, family 3							83.0	88.0	86.0					14																	73198527		2026	4183	6209	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73198527G>C	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.417C>G	14.37:g.73198527G>C	ENSP00000450518:p.Ile139Met					DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.I139M|DPF3_uc010ttq.1_Missense_Mutation_p.I149M	p.I139M	NM_012074	NP_036206	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	4	430	-			139					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.417C>G		.	.	.	.	.	.	.	.	.	.	G	11.30	1.598635	0.28445	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.90732	-2.72;-0.15;-0.18	5.69	2.86	0.33363	.	.	.	.	.	T	0.78978	0.4369	N	0.17474	0.49	0.37139	D	0.901621	B;B;B	0.34015	0.099;0.168;0.435	B;B;B	0.28916	0.096;0.074;0.037	T	0.74124	-0.3766	9	0.59425	D	0.04	.	4.1183	0.10092	0.0738:0.2155:0.4569:0.2538	.	149;139;139	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	M	139;139;138;139;149	ENSP00000450518:I139M;ENSP00000441640:I139M;ENSP00000444662:I149M	ENSP00000381791:I194M	I	-	3	3	DPF3	72268280	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.640000	0.37186	0.338000	0.23692	-0.304000	0.09214	ATC		0.577	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			5	16	0	0	0	0	5	16				
NUMB	8650	broad.mit.edu	37	14	73749071	73749071	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr14:73749071G>T	ENST00000355058.3	-	11	1370	c.1092C>A	c.(1090-1092)ttC>ttA	p.F364L	NUMB_ENST00000560335.1_Missense_Mutation_p.F266L|NUMB_ENST00000554546.1_Missense_Mutation_p.F353L|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.F353L|NUMB_ENST00000454166.4_Missense_Mutation_p.F266L|NUMB_ENST00000359560.3_Missense_Mutation_p.F353L|NUMB_ENST00000356296.4_Missense_Mutation_p.F364L|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.F353L|NUMB_ENST00000556772.1_Missense_Mutation_p.F220L|NUMB_ENST00000555738.2_Missense_Mutation_p.F255L|NUMB_ENST00000555394.1_Missense_Mutation_p.F364L|NUMB_ENST00000555238.1_Missense_Mutation_p.F364L			P49757	NUMB_HUMAN	numb homolog (Drosophila)	364					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		accaaccttggaaggtaggag	0.512																																						uc001xny.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1090-1092)TTC>TTA		numb homolog isoform 1							136.0	111.0	120.0					14																	73749071		2203	4300	6503	SO:0001583	missense	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73749071G>T	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1092C>A	14.37:g.73749071G>T	ENSP00000347169:p.Phe364Leu					NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Missense_Mutation_p.F266L|NUMB_uc010arr.1_Missense_Mutation_p.F255L|NUMB_uc001xoa.1_Missense_Mutation_p.F364L|NUMB_uc001xnz.1_Missense_Mutation_p.F353L|NUMB_uc001xob.1_Missense_Mutation_p.F353L|NUMB_uc001xod.1_Missense_Mutation_p.F364L|NUMB_uc001xoc.1_Missense_Mutation_p.F364L|NUMB_uc010ars.1_Missense_Mutation_p.F353L|NUMB_uc010ttz.1_Missense_Mutation_p.F110L	p.F364L	NM_001005743	NP_001005743	P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	11	1412	-			364					B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	ENST00000355058.3	37	c.1092C>A	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346408	0.24426	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000454166;ENST00000555738;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;1.03;1.03;1.63;1.03;1.03;0.6;0.62;0.61;1.03	5.5	0.656	0.17844	.	0.202166	0.53938	N	0.000058	T	0.22399	0.0540	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001;0.0	T	0.08289	-1.0729	10	0.08599	T	0.76	-4.2236	4.631	0.12502	0.4962:0.0:0.3554:0.1484	.	110;255;266;353;364;353;364	B1P2N9;B1P2N6;B1P2N5;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;NUMB_HUMAN	L	353;364;353;364;220;364;353;364;266;255;353	ENSP00000452416:F353L;ENSP00000348644:F364L;ENSP00000451117:F353L;ENSP00000451300:F364L;ENSP00000451513:F220L;ENSP00000347169:F364L;ENSP00000352563:F353L;ENSP00000451625:F364L;ENSP00000394025:F266L;ENSP00000452069:F255L;ENSP00000441258:F353L	ENSP00000347169:F364L	F	-	3	2	NUMB	72818824	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	1.564000	0.36375	-0.028000	0.13850	-0.140000	0.14226	TTC		0.512	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			7	30	1	0	5.18e-06	5.65e-06	7	30				
ATP8B4	79895	broad.mit.edu	37	15	50273431	50273431	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:50273431T>G	ENST00000284509.6	-	11	950	c.809A>C	c.(808-810)gAt>gCt	p.D270A	RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000559829.1_Missense_Mutation_p.D270A|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	270						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATCAATCTATCAATGCTTGT	0.308																																						uc001zxu.2		NA																	0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(808-810)GAT>GCT		ATPase class I type 8B member 4							192.0	173.0	179.0					15																	50273431		2194	4295	6489	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50273431T>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.809A>C	15.37:g.50273431T>G	ENSP00000284509:p.Asp270Ala					ATP8B4_uc010ber.2_Missense_Mutation_p.D143A|ATP8B4_uc010ufd.1_Missense_Mutation_p.D143A|ATP8B4_uc010ufe.1_RNA	p.D270A	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	11	951	-		all_lung(180;0.00183)	270			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.809A>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635308	0.87760	.	.	ENSG00000104043	ENST00000284509	D	0.88741	-2.42	5.52	5.52	0.82312	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94849	0.8012	10	0.87932	D	0	.	13.8714	0.63622	0.0:0.0:0.0:1.0	.	270	Q8TF62	AT8B4_HUMAN	A	270	ENSP00000284509:D270A	ENSP00000284509:D270A	D	-	2	0	ATP8B4	48060723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.211000	0.71520	0.533000	0.62120	GAT		0.308	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		6	33	0	0	0	0	6	33				
ALDH1A2	8854	broad.mit.edu	37	15	58357778	58357778	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:58357778T>C	ENST00000249750.4	-	1	838	c.71A>G	c.(70-72)cAc>cGc	p.H24R	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.H24R|ALDH1A2_ENST00000537372.1_5'UTR|ALDH1A2_ENST00000558231.1_Intron|CTD-2330J20.2_ENST00000559684.1_RNA	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	24					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.H24L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CGGCAGGAGGTGCAGCGACGC	0.652																																						uc002aex.2		NA																	1	Substitution - Missense(1)		endometrium(1)	central_nervous_system(1)	1						c.(70-72)CAC>CGC		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						35.0	38.0	37.0					15																	58357778		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58357778T>C	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.71A>G	15.37:g.58357778T>C	ENSP00000249750:p.His24Arg					ALDH1A2_uc002aey.2_Missense_Mutation_p.H24R|ALDH1A2_uc010ugv.1_5'UTR|ALDH1A2_uc010ugw.1_Intron	p.H24R	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	1	129	-			24					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.71A>G	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295181	0.60086	.	.	ENSG00000128918	ENST00000249750;ENST00000347587	T;T	0.74526	-0.85;-0.83	3.71	2.55	0.30701	Aldehyde/histidinol dehydrogenase (1);	0.488827	0.22539	N	0.058746	T	0.52041	0.1710	N	0.08118	0	0.80722	D	1	B;B	0.17038	0.02;0.012	B;B	0.15870	0.014;0.01	T	0.43196	-0.9406	10	0.52906	T	0.07	.	8.5743	0.33590	0.1722:0.0:0.0:0.8278	.	24;24	O94788-2;O94788	.;AL1A2_HUMAN	R	24	ENSP00000249750:H24R;ENSP00000309623:H24R	ENSP00000249750:H24R	H	-	2	0	ALDH1A2	56145070	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	6.937000	0.75898	0.492000	0.27815	0.456000	0.33151	CAC		0.652	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			9	35	0	0	0	0	9	35				
MFGE8	4240	broad.mit.edu	37	15	89449094	89449094	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:89449094G>A	ENST00000566497.1	-	5	640	c.579C>T	c.(577-579)gtC>gtT	p.V193V	MFGE8_ENST00000268151.7_Silent_p.V193V|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Silent_p.V193V|MFGE8_ENST00000539437.1_Silent_p.V185V|MFGE8_ENST00000542878.1_Silent_p.V149V			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	193	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAAACAGGTTGACATGCACCG	0.582																																						uc002bng.3		NA																	0				ovary(1)	1						c.(577-579)GTC>GTT		milk fat globule-EGF factor 8 protein isoform a							147.0	129.0	135.0					15																	89449094		2200	4299	6499	SO:0001819	synonymous_variant	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89449094G>A	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.579C>T	15.37:g.89449094G>A						MFGE8_uc002bnf.3_Silent_p.V81V|MFGE8_uc002bnh.3_Silent_p.V193V|MFGE8_uc010bnn.2_Silent_p.V185V|MFGE8_uc010upq.1_Silent_p.V149V|MFGE8_uc010upr.1_Silent_p.V193V	p.V193V	NM_005928	NP_005919	Q08431	MFGM_HUMAN			5	692	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		193			F5/8 type C 1.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	ENST00000566497.1	37	c.579C>T	CCDS10347.1																																																																																				0.582	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		22	62	0	0	0	0	22	62				
TEKT5	146279	broad.mit.edu	37	16	10788293	10788293	+	Silent	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:10788293C>G	ENST00000283025.2	-	1	509	c.438G>C	c.(436-438)tcG>tcC	p.S146S	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	146						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AGCCAATGTCCGACAGCCTCT	0.612																																						uc002czz.1		NA																	0				ovary(2)	2						c.(436-438)TCG>TCC		tektin 5							103.0	109.0	107.0					16																	10788293		2197	4300	6497	SO:0001819	synonymous_variant	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788293C>G		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.438G>C	16.37:g.10788293C>G							p.S146S	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			1	510	-			146			Potential.		A1L3Z3	Silent	SNP	ENST00000283025.2	37	c.438G>C	CCDS10542.1																																																																																				0.612	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		31	119	0	0	0	0	31	119				
ABCC11	85320	broad.mit.edu	37	16	48250115	48250115	+	Silent	SNP	C	C	T	rs374693833		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:48250115C>T	ENST00000394747.1	-	6	1210	c.861G>A	c.(859-861)tcG>tcA	p.S287S	ABCC11_ENST00000537808.1_Silent_p.S287S|ABCC11_ENST00000356608.2_Silent_p.S287S|ABCC11_ENST00000353782.5_Silent_p.S287S|ABCC11_ENST00000394748.1_Silent_p.S287S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	287	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGATGACCAGCGATGCGCAGG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		23032	0.0		0.001	False		,,,				2504	0.0					uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(859-861)TCG>TCA		ATP-binding cassette, sub-family C, member 11		C	,,	0,4402		0,0,2201	206.0	191.0	196.0		861,861,861	-9.8	0.0	16		196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,	287/1383,287/1383,287/1345	48250115	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48250115C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.861G>A	16.37:g.48250115C>T						ABCC11_uc002efg.1_Silent_p.S287S|ABCC11_uc002efh.1_Silent_p.S287S|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Silent_p.S287S	p.S287S	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			6	1211	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	287			ABC transmembrane type-1 1.|Helical; (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.861G>A	CCDS10732.1																																																																																				0.468	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		27	114	0	0	0	0	27	114				
SNX20	124460	broad.mit.edu	37	16	50709754	50709754	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:50709754C>A	ENST00000330943.4	-	3	380	c.209G>T	c.(208-210)cGc>cTc	p.R70L	SNX20_ENST00000423026.2_Missense_Mutation_p.R70L|SNX20_ENST00000300590.3_Missense_Mutation_p.R70L	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	70					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GTGCTTCCAGCGGCATTTCTG	0.522																																						uc002egk.2		NA																	0				ovary(1)	1						c.(208-210)CGC>CTC		sorting nexin 20 isoform 1							137.0	124.0	128.0					16																	50709754		2198	4300	6498	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50709754C>A	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.209G>T	16.37:g.50709754C>A	ENSP00000332062:p.Arg70Leu					SNX20_uc010vgp.1_Missense_Mutation_p.R70L|SNX20_uc002egi.3_Missense_Mutation_p.R70L	p.R70L	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN			3	382	-			70					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.209G>T	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	6.138	0.393635	0.11638	.	.	ENSG00000167208	ENST00000300590;ENST00000423026;ENST00000330943;ENST00000413750	T;T;T	0.47528	0.84;0.86;1.6	5.66	-3.77	0.04346	Phox homologous domain (1);	1.221540	0.05324	N	0.527105	T	0.29028	0.0721	N	0.14661	0.345	0.09310	N	1	P;B;B	0.34780	0.468;0.121;0.192	B;B;B	0.28849	0.095;0.03;0.066	T	0.16424	-1.0403	10	0.32370	T	0.25	-6.8136	13.6553	0.62336	0.0:0.1717:0.0:0.8283	.	70;70;70	Q7Z614-3;Q7Z614;Q7Z614-4	.;SNX20_HUMAN;.	L	70	ENSP00000300590:R70L;ENSP00000388875:R70L;ENSP00000332062:R70L	ENSP00000300590:R70L	R	-	2	0	SNX20	49267255	0.000000	0.05858	0.313000	0.25210	0.575000	0.36095	-0.446000	0.06837	-0.770000	0.04614	-0.355000	0.07637	CGC		0.522	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		12	57	1	0	0.000978159	0.00101578	12	57				
ZNF276	92822	broad.mit.edu	37	16	89789220	89789220	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:89789220G>A	ENST00000443381.2	+	2	584	c.487G>A	c.(487-489)Ggt>Agt	p.G163S	ZNF276_ENST00000568064.1_Missense_Mutation_p.G88S|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000289816.5_Missense_Mutation_p.G88S	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592																																						uc002fos.3		NA																	0					0						c.(487-489)GGT>AGT		zinc finger protein 276 isoform a							52.0	53.0	53.0					16																	89789220		2197	4298	6495	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789220G>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.487G>A	16.37:g.89789220G>A	ENSP00000415836:p.Gly163Ser					C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.G88S|ZNF276_uc002foq.3_Missense_Mutation_p.G88S|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	p.G163S	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	584	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	163					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.487G>A	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562283	0.65538	.	.	ENSG00000158805	ENST00000289816;ENST00000443381	T;T	0.13901	2.64;2.55	5.55	4.58	0.56647	.	0.167679	0.52532	D	0.000064	T	0.28200	0.0696	M	0.66939	2.045	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.54312	0.68;0.748	T	0.03840	-1.0999	10	0.87932	D	0	-15.1464	13.8463	0.63470	0.0:0.1526:0.8474:0.0	.	163;88	Q8N554;Q8N554-2	ZN276_HUMAN;.	S	88;163	ENSP00000289816:G88S;ENSP00000415836:G163S	ENSP00000289816:G88S	G	+	1	0	ZNF276	88316721	0.991000	0.36638	0.050000	0.19076	0.002000	0.02628	2.632000	0.46511	1.327000	0.45338	0.655000	0.94253	GGT		0.592	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		7	45	0	0	0	0	7	45				
DHX33	56919	broad.mit.edu	37	17	5365857	5365857	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:5365857T>C	ENST00000225296.3	-	3	660	c.460A>G	c.(460-462)Aca>Gca	p.T154A	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	154	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGCGCACTGTATAGCCAACC	0.478																																						uc002gca.2		NA																	0				ovary(1)|pancreas(1)	2						c.(460-462)ACA>GCA		DEAH (Asp-Glu-Ala-His) box polypeptide 33							93.0	88.0	90.0					17																	5365857		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5365857T>C	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.460A>G	17.37:g.5365857T>C	ENSP00000225296:p.Thr154Ala					DHX33_uc002gbz.2_5'Flank|DHX33_uc002gcb.2_Translation_Start_Site|DHX33_uc010clf.2_Intron	p.T154A	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			3	462	-			154			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.460A>G	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655173	0.47467	.	.	ENSG00000005100	ENST00000225296	T	0.07444	3.19	5.73	4.65	0.58169	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.044013	0.85682	D	0.000000	T	0.04907	0.0132	N	0.11870	0.19	0.80722	D	1	B	0.16166	0.016	B	0.22753	0.041	T	0.32214	-0.9915	10	0.09590	T	0.72	.	11.5546	0.50739	0.1338:0.0:0.0:0.8662	.	154	Q9H6R0	DHX33_HUMAN	A	154	ENSP00000225296:T154A	ENSP00000225296:T154A	T	-	1	0	DHX33	5306581	1.000000	0.71417	0.452000	0.26994	0.889000	0.51656	4.180000	0.58296	0.967000	0.38186	0.528000	0.53228	ACA		0.478	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		18	60	0	0	0	0	18	60				
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR	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	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	GTTACACATGTAGTTGTAGTG	0.572		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		94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.Y236C(46)|p.Y236N(12)|p.Y236*(9)|p.Y236H(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236Y(2)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004907	TP53	M		c.(706-708)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							126.0	100.0	109.0					17																	7577574		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577574T>C	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.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.2_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C	p.Y236C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	901	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	236		Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.707A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	29	0	0	0	0	30	29				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM951226	TP53	M		c.(637-639)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578212G>A	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	p.R213*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	831	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	25	0	0	0	0	14	25				
PFAS	5198	broad.mit.edu	37	17	8170695	8170695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:8170695C>T	ENST00000314666.6	+	25	3314	c.3181C>T	c.(3181-3183)Ccc>Tcc	p.P1061S	PFAS_ENST00000545834.1_Missense_Mutation_p.P637S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1061					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCAAGGTGGTCCCAGCCCCCG	0.607																																						uc002gkr.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(3181-3183)CCC>TCC		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						76.0	86.0	83.0					17																	8170695		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8170695C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3181C>T	17.37:g.8170695C>T	ENSP00000313490:p.Pro1061Ser					PFAS_uc010vuv.1_Missense_Mutation_p.P637S|PFAS_uc002gks.2_Missense_Mutation_p.P140S	p.P1061S	NM_012393	NP_036525	O15067	PUR4_HUMAN			25	3322	+			1061					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.3181C>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	1.234	-0.623298	0.03636	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.27557	1.66;2.4	5.57	5.57	0.84162	.	0.129861	0.52532	D	0.000065	T	0.19644	0.0472	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13818	-1.0495	10	0.54805	T	0.06	-16.7514	12.0444	0.53471	0.1724:0.8276:0.0:0.0	.	1061;1061	A8K8N7;O15067	.;PUR4_HUMAN	S	637;1061;470	ENSP00000441706:P637S;ENSP00000313490:P1061S	ENSP00000313490:P1061S	P	+	1	0	PFAS	8111420	0.745000	0.28261	0.174000	0.22961	0.729000	0.41735	2.109000	0.41863	2.617000	0.88574	0.563000	0.77884	CCC		0.607	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			70	110	0	0	0	0	70	110				
ZNF18	7566	broad.mit.edu	37	17	11895778	11895778	+	Silent	SNP	G	G	A	rs548673219		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:11895778G>A	ENST00000322748.3	-	4	973	c.369C>T	c.(367-369)ccC>ccT	p.P123P	ZNF18_ENST00000454073.3_Silent_p.P123P|ZNF18_ENST00000580306.2_Silent_p.P123P	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	123	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACAGTCTCTGGGGGTCCCCCT	0.532																																						uc002gng.1		NA																	0				central_nervous_system(1)	1						c.(367-369)CCC>CCT		zinc finger protein 18							71.0	64.0	66.0					17																	11895778		2203	4300	6503	SO:0001819	synonymous_variant	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11895778G>A	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.369C>T	17.37:g.11895778G>A						ZNF18_uc002gnh.1_Silent_p.P123P|ZNF18_uc002gni.1_Silent_p.P123P	p.P123P	NM_144680	NP_653281	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	4	974	-			123			SCAN box.		Q5QHQ3|Q8IYC4|Q8NAH6	Silent	SNP	ENST00000322748.3	37	c.369C>T	CCDS32568.1																																																																																				0.532	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		25	33	0	0	0	0	25	33				
USP22	23326	broad.mit.edu	37	17	20924462	20924462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:20924462C>T	ENST00000261497.4	-	3	585	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	USP22_ENST00000537526.2_Missense_Mutation_p.A116T|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	128					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TCCTCCTTGGCGATTATTTCC	0.483																																						uc002gym.3		NA																	0				lung(1)	1						c.(382-384)GCC>ACC		ubiquitin thiolesterase 22							87.0	89.0	88.0					17																	20924462		2009	4176	6185	SO:0001583	missense	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20924462C>T	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.382G>A	17.37:g.20924462C>T	ENSP00000261497:p.Ala128Thr					USP22_uc002gyn.3_Missense_Mutation_p.A116T|USP22_uc002gyl.3_Missense_Mutation_p.A23T	p.A128T	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN			3	586	-			128					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	ENST00000261497.4	37	c.382G>A	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	c	12.91	2.079228	0.36662	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.09723	2.95;2.96	4.44	4.44	0.53790	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.15739	0.0379	L	0.58810	1.83	0.58432	D	0.999994	D;P	0.55800	0.973;0.955	P;B	0.45310	0.476;0.284	T	0.10543	-1.0625	10	0.22109	T	0.4	.	17.0541	0.86529	0.0:1.0:0.0:0.0	.	116;128	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	T	196;116;128	ENSP00000440950:A116T;ENSP00000261497:A128T	ENSP00000261497:A128T	A	-	1	0	USP22	20865054	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	5.128000	0.64733	1.991000	0.58162	0.563000	0.77884	GCC		0.483	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			18	28	0	0	0	0	18	28				
MAP2K3	5606	broad.mit.edu	37	17	21215472	21215472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:21215472C>T	ENST00000342679.4	+	10	1042	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	MAP2K3_ENST00000361818.5_Missense_Mutation_p.R236W|MAP2K3_ENST00000316920.6_Missense_Mutation_p.R236W	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GGCCATCCTGCGGTTCCCTTA	0.677																																						uc002gys.2		NA																	0					0						c.(793-795)CGG>TGG		mitogen-activated protein kinase kinase 3							61.0	60.0	61.0					17																	21215472		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21215472C>T	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.793C>T	17.37:g.21215472C>T	ENSP00000345083:p.Arg265Trp					MAP2K3_uc002gyt.2_Missense_Mutation_p.R236W|MAP2K3_uc002gyu.2_Missense_Mutation_p.R236W	p.R265W	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	10	1058	+			265			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.793C>T	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418630	0.62622	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.68025	-0.3;-0.3	5.84	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000015	D	0.84115	0.5401	M	0.88906	2.99	0.52501	D	0.999958	D	0.89917	1.0	D	0.70227	0.968	D	0.87774	0.2607	10	0.87932	D	0	-27.9416	16.2125	0.82170	0.1341:0.8659:0.0:0.0	.	265	P46734	MP2K3_HUMAN	W	265;236;236;269	ENSP00000345083:R265W;ENSP00000355081:R236W	ENSP00000319139:R269W	R	+	1	2	MAP2K3	21156065	0.784000	0.28713	0.329000	0.25429	0.682000	0.39822	1.782000	0.38654	1.420000	0.47138	0.655000	0.94253	CGG		0.677	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		4	48	0	0	0	0	4	48				
MYO19	80179	broad.mit.edu	37	17	34863298	34863298	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:34863298G>C	ENST00000431794.3	-	16	1929	c.1407C>G	c.(1405-1407)aaC>aaG	p.N469K	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	469	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AACAGGGCTGGTTGTCCTGGT	0.542																																						uc010wcy.1		NA																	0				ovary(1)	1						c.(1405-1407)AAC>AAG		myosin XIX isoform 2							137.0	121.0	126.0					17																	34863298		1568	3582	5150	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34863298G>C	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1407C>G	17.37:g.34863298G>C	ENSP00000409936:p.Asn469Lys					MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA	p.N469K	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	17	2399	-		Breast(25;0.00957)|Ovarian(249;0.17)	469			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1407C>G	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119871	0.77323	.	.	ENSG00000141140	ENST00000415126;ENST00000431794	D	0.96365	-3.99	5.76	4.6	0.57074	Myosin head, motor domain (3);	.	.	.	.	D	0.98626	0.9540	H	0.97940	4.11	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	D	0.98452	1.0592	9	0.87932	D	0	.	10.7733	0.46336	0.1608:0.0:0.8392:0.0	.	469	Q96H55	MYO19_HUMAN	K	204;469	ENSP00000409936:N469K	ENSP00000397134:N204K	N	-	3	2	MYO19	31937411	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.169000	0.58223	2.728000	0.93425	0.655000	0.94253	AAC		0.542	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		39	32	0	0	0	0	39	32				
PNMT	5409	broad.mit.edu	37	17	37826489	37826489	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:37826489G>A	ENST00000269582.2	+	3	1014	c.696G>A	c.(694-696)gtG>gtA	p.V232V	PNMT_ENST00000394246.1_Silent_p.V134V	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	232					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGACGGTGGTGCCAGTGTCTG	0.662																																						uc002hsi.1		NA																	0				ovary(1)	1						c.(694-696)GTG>GTA		phenylethanolamine N-methyltransferase							50.0	29.0	36.0					17																	37826489		2203	4299	6502	SO:0001819	synonymous_variant	5409				catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity	g.chr17:37826489G>A		CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.696G>A	17.37:g.37826489G>A							p.V232V	NM_002686	NP_002677	P11086	PNMT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	918	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		232						Silent	SNP	ENST00000269582.2	37	c.696G>A	CCDS11343.1																																																																																				0.662	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256923.2	NM_002686		9	4	0	0	0	0	9	4				
ERBB2	2064	broad.mit.edu	37	17	37865676	37865676	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:37865676C>T	ENST00000269571.5	+	4	704	c.545C>T	c.(544-546)aCa>aTa	p.T182I	ERBB2_ENST00000578199.1_Missense_Mutation_p.T152I|ERBB2_ENST00000540147.1_Missense_Mutation_p.T152I|ERBB2_ENST00000540042.1_Missense_Mutation_p.T152I|ERBB2_ENST00000541774.1_Missense_Mutation_p.T167I|ERBB2_ENST00000584450.1_Missense_Mutation_p.T182I|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.T152I|ERBB2_ENST00000406381.2_Missense_Mutation_p.T152I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	182					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CTGGCTCTCACACTGATAGAC	0.562		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(544-546)ACA>ATA		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						130.0	106.0	114.0					17																	37865676		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37865676C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.545C>T	17.37:g.37865676C>T	ENSP00000269571:p.Thr182Ile	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.T152I|ERBB2_uc010cwa.2_Missense_Mutation_p.T167I|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.T182I|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.T152I|ERBB2_uc002hsn.1_Missense_Mutation_p.T182I	p.T182I	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	4	783	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	182			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.545C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872506	0.51695	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	5.28	-9.56	0.00566	.	.	.	.	.	T	0.68201	0.2975	L	0.35793	1.09	0.09310	N	1	B;B;B;B	0.24576	0.106;0.065;0.009;0.084	B;B;B;B	0.24974	0.057;0.022;0.007;0.047	T	0.53858	-0.8379	9	0.35671	T	0.21	.	6.4607	0.21954	0.3963:0.1627:0.0:0.4411	.	152;167;182;182	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	I	152;167;182;152;152	ENSP00000385185:T152I;ENSP00000446466:T167I;ENSP00000269571:T182I;ENSP00000443562:T152I;ENSP00000446382:T152I	ENSP00000269571:T182I	T	+	2	0	ERBB2	35119202	0.000000	0.05858	0.000000	0.03702	0.788000	0.44548	-2.224000	0.01213	-2.175000	0.00771	0.462000	0.41574	ACA		0.562	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			14	36	0	0	0	0	14	36				
TMUB2	79089	broad.mit.edu	37	17	42266692	42266692	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:42266692C>T	ENST00000587989.1	+	3	491	c.338C>T	c.(337-339)gCg>gTg	p.A113V	TMUB2_ENST00000590235.1_Intron|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000319511.6_Missense_Mutation_p.A93V|TMUB2_ENST00000538716.2_Missense_Mutation_p.A113V|ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000357984.3_Missense_Mutation_p.A93V|TMUB2_ENST00000446571.3_Intron|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.A93V|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000589856.1_Missense_Mutation_p.A93V			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	113						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTGAAGAGGCGGGTGAAGGT	0.612																																						uc002ifo.2		NA																	0				lung(1)	1						c.(337-339)GCG>GTG		transmembrane and ubiquitin-like domain							55.0	61.0	59.0					17																	42266692		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42266692C>T		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.338C>T	17.37:g.42266692C>T	ENSP00000466971:p.Ala113Val					C17orf65_uc002ifn.2_5'Flank|TMUB2_uc002ifp.2_Missense_Mutation_p.A93V|TMUB2_uc010wiu.1_Intron|TMUB2_uc002ifq.2_Missense_Mutation_p.A113V|TMUB2_uc002ifr.2_Intron|TMUB2_uc002ifs.2_Intron|TMUB2_uc002ift.2_Missense_Mutation_p.A93V|TMUB2_uc002ifu.2_Intron|TMUB2_uc002ifv.2_Missense_Mutation_p.A93V|TMUB2_uc002ifw.1_Missense_Mutation_p.A93V|TMUB2_uc002ifx.2_Intron|TMUB2_uc002ify.2_Intron	p.A113V	NM_001076674	NP_001070142	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	495	+		Breast(137;0.00765)|Prostate(33;0.0181)	113					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.338C>T	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461258	0.26248	.	.	ENSG00000168591	ENST00000357984;ENST00000538716;ENST00000319511	T;T;T	0.46451	0.87;0.87;0.87	3.83	2.86	0.33363	.	0.544268	0.17721	N	0.164243	T	0.28167	0.0695	L	0.29908	0.895	0.21915	N	0.999473	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.15549	-1.0433	10	0.45353	T	0.12	.	7.3998	0.26956	0.0:0.7287:0.1719:0.0994	.	93;113	Q71RG4-3;Q71RG4	.;TMUB2_HUMAN	V	93;113;93	ENSP00000350672:A93V;ENSP00000444565:A113V;ENSP00000313214:A93V	ENSP00000313214:A93V	A	+	2	0	TMUB2	39622218	0.221000	0.23642	0.871000	0.34182	0.878000	0.50629	0.177000	0.16801	1.173000	0.42796	0.561000	0.74099	GCG		0.612	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		3	54	0	0	0	0	3	54				
EFTUD2	9343	broad.mit.edu	37	17	42940103	42940103	+	Missense_Mutation	SNP	G	G	A	rs376157050		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:42940103G>A	ENST00000426333.2	-	16	1882	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	EFTUD2_ENST00000591382.1_Missense_Mutation_p.R529C|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R519C|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R494C	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	529					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ATCCAAAGGCGGCCCACGGTG	0.597																																					Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2		NA																	0				ovary(1)	1						c.(1585-1587)CGC>TGC		elongation factor Tu GTP binding domain		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	64.0	52.0	56.0		1480,1585	6.2	1.0	17		56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EFTUD2	NM_001142605.1,NM_004247.3	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	494/938,529/973	42940103	1,13005	2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42940103G>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1585C>T	17.37:g.42940103G>A	ENSP00000392094:p.Arg529Cys					EFTUD2_uc010wje.1_Missense_Mutation_p.R494C|EFTUD2_uc010wjf.1_Missense_Mutation_p.R519C	p.R529C	NM_004247	NP_004238	Q15029	U5S1_HUMAN			16	1846	-		Prostate(33;0.109)	529					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1585C>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714428	0.89112	0.0	1.16E-4	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.65549	-0.16;-0.16	6.16	6.16	0.99307	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.959	D	0.86991	0.2110	10	0.87932	D	0	-8.4033	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	519;529	B4DMC0;Q15029	.;U5S1_HUMAN	C	529;519;494	ENSP00000392094:R529C;ENSP00000385873:R494C	ENSP00000262414:R519C	R	-	1	0	EFTUD2	40295629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.137000	0.71710	2.937000	0.99478	0.650000	0.86243	CGC		0.597	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		3	24	0	0	0	0	3	24				
ERN1	2081	broad.mit.edu	37	17	62126509	62126509	+	Silent	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:62126509A>T	ENST00000433197.3	-	18	2402	c.2307T>A	c.(2305-2307)tcT>tcA	p.S769S		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGCTGCCCTCAGAGATTACGT	0.557																																						uc002jdz.2		NA																	0		p.S769F(1)		central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						c.(2305-2307)TCT>TCA		endoplasmic reticulum to nucleus signalling 1							47.0	52.0	50.0					17																	62126509		2003	4185	6188	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62126509A>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2307T>A	17.37:g.62126509A>T							p.S769S	NM_001433	NP_001424	O75460	ERN1_HUMAN			18	2420	-			769		S -> F (in a glioblastoma multiforme sample; somatic mutation).	Cytoplasmic (Potential).|Protein kinase.			Silent	SNP	ENST00000433197.3	37	c.2307T>A	CCDS45762.1																																																																																				0.557	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		18	23	0	0	0	0	18	23				
CACNG4	27092	broad.mit.edu	37	17	65026643	65026643	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:65026643C>A	ENST00000262138.3	+	4	509	c.507C>A	c.(505-507)gaC>gaA	p.D169E	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	169					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ACCCGAGTGACAAGCGGGACG	0.547																																						uc002jft.1		NA																	0				central_nervous_system(1)	1						c.(505-507)GAC>GAA		voltage-dependent calcium channel gamma-4							133.0	127.0	129.0					17																	65026643		2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026643C>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.507C>A	17.37:g.65026643C>A	ENSP00000262138:p.Asp169Glu						p.D169E	NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	522	+	all_cancers(12;9.86e-11)		169			Extracellular (Potential).		B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.507C>A	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078410	0.55753	.	.	ENSG00000075461	ENST00000262138	D	0.88664	-2.41	4.9	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.89266	0.6666	L	0.57536	1.79	0.58432	D	0.999999	D	0.60160	0.987	P	0.55824	0.785	D	0.85706	0.1316	10	0.10636	T	0.68	-21.7329	12.0337	0.53412	0.0:0.8575:0.0:0.1425	.	169	Q9UBN1	CCG4_HUMAN	E	169	ENSP00000262138:D169E	ENSP00000262138:D169E	D	+	3	2	CACNG4	62457105	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.003000	0.49505	2.285000	0.76669	0.556000	0.70494	GAC		0.547	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		35	72	1	0	2.68e-12	3.12e-12	35	72				
ZACN	353174	broad.mit.edu	37	17	74077642	74077642	+	Missense_Mutation	SNP	C	C	T	rs140656208	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:74077642C>T	ENST00000334586.5	+	7	769	c.686C>T	c.(685-687)aCg>aTg	p.T229M	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	229	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTGAAGAACACGGCGCTCAAG	0.662													c|||	2	0.000399361	0.0	0.0	5008	,	,		17336	0.0		0.002	False		,,,				2504	0.0					uc002jqn.2		NA																	0					0						c.(685-687)ACG>ATG		zinc activated ligand-gated ion channel		C	,,,,,MET/THR	2,4404	4.2+/-10.8	0,2,2201	92.0	87.0	89.0		,,,,,686	3.6	0.9	17	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	utr-3,utr-3,utr-3,utr-3,utr-3,missense	EXOC7,ZACN	NM_001013839.2,NM_001145297.2,NM_001145298.2,NM_001145299.2,NM_015219.3,NM_180990.3	,,,,,81	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,,,,,probably-damaging	,,,,,229/413	74077642	4,13002	2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077642C>T	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.686C>T	17.37:g.74077642C>T	ENSP00000334854:p.Thr229Met					ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	p.T229M	NM_180990	NP_851321	Q401N2	ZACN_HUMAN			7	769	+			229			Extracellular (Potential).|Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.686C>T	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	15.86	2.957021	0.53293	4.54E-4	2.33E-4	ENSG00000186919	ENST00000334586	T	0.61274	0.12	4.62	3.64	0.41730	Neurotransmitter-gated ion-channel ligand-binding (1);	0.542611	0.18058	N	0.153031	T	0.63212	0.2492	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.63677	-0.6583	10	0.59425	D	0.04	-5.2013	11.4348	0.50062	0.1808:0.8192:0.0:0.0	.	229	Q401N2	ZACN_HUMAN	M	229	ENSP00000334854:T229M	ENSP00000334854:T229M	T	+	2	0	ZACN	71589237	0.968000	0.33430	0.873000	0.34254	0.495000	0.33615	2.300000	0.43620	1.163000	0.42636	0.500000	0.49745	ACG		0.662	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		30	83	0	0	0	0	30	83				
CCDC57	284001	broad.mit.edu	37	17	80121141	80121141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:80121141C>T	ENST00000389641.4	-	13	2011	c.1975G>A	c.(1975-1977)Gca>Aca	p.A659T	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.A659T|RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000392343.3_Missense_Mutation_p.A659T			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	659										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTCCTGAGTGCCAGTCCAGAG	0.587																																						uc002kdz.1		NA																	0				ovary(2)	2						c.(1975-1977)GCA>ACA		coiled-coil domain containing 57							120.0	125.0	123.0					17																	80121141		2020	4179	6199	SO:0001583	missense	284001							g.chr17:80121141C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1975G>A	17.37:g.80121141C>T	ENSP00000374292:p.Ala659Thr					CCDC57_uc002kdx.1_Missense_Mutation_p.A659T|CCDC57_uc010dik.1_Missense_Mutation_p.A167T	p.A659T	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		14	2330	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		659					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1975G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.61|10.61	1.397727|1.397727	0.25205|0.25205	.|.	.|.	ENSG00000176155|ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343|ENST00000419322	T;T;T|.	0.28895|.	2.82;2.82;1.59|.	2.86|2.86	1.86|1.86	0.25419|0.25419	.|.	0.365829|.	0.19690|.	N|.	0.108294|.	T|T	0.43211|0.43211	0.1237|0.1237	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	0.999999|0.999999	B;D|.	0.61080|.	0.017;0.989|.	B;P|.	0.55923|.	0.025;0.787|.	T|T	0.30208|0.30208	-0.9986|-0.9986	10|5	0.42905|.	T|.	0.14|.	-7.9333|-7.9333	7.0932|7.0932	0.25295|0.25295	0.2692:0.7308:0.0:0.0|0.2692:0.7308:0.0:0.0	.|.	659;659|.	Q2TAC2-2;Q2TAC2|.	.;CCD57_HUMAN|.	T|D	659;659;167;659|4	ENSP00000374292:A659T;ENSP00000376158:A659T;ENSP00000376154:A659T|.	ENSP00000315967:A167T|.	A|G	-|-	1|2	0|0	CCDC57|CCDC57	77714430|77714430	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.026000|0.026000	0.11368|0.11368	0.839000|0.839000	0.27586|0.27586	0.752000|0.752000	0.32923|0.32923	0.557000|0.557000	0.71058|0.71058	GCA|GGC		0.587	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		4	119	0	0	0	0	4	119				
ZNF750	79755	broad.mit.edu	37	17	80790065	80790065	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:80790065T>A	ENST00000269394.3	-	2	1099	c.266A>T	c.(265-267)aAg>aTg	p.K89M	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	89					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGCGACAGACTTGGAAGAGGC	0.557																																						uc002kga.2		NA																	0				central_nervous_system(1)	1						c.(265-267)AAG>ATG		zinc finger protein 750							110.0	94.0	100.0					17																	80790065		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80790065T>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.266A>T	17.37:g.80790065T>A	ENSP00000269394:p.Lys89Met					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.K89M	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	577	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	89					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.266A>T	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728320	0.30593	.	.	ENSG00000141579	ENST00000269394	T	0.28454	1.61	5.86	2.36	0.29203	.	0.382752	0.25566	N	0.029794	T	0.43322	0.1242	M	0.71581	2.175	0.25450	N	0.988016	D	0.76494	0.999	D	0.65443	0.935	T	0.36744	-0.9735	9	.	.	.	-17.9559	1.3558	0.02182	0.1424:0.1648:0.148:0.5448	.	89	Q32MQ0	ZN750_HUMAN	M	89	ENSP00000269394:K89M	.	K	-	2	0	ZNF750	78383354	0.988000	0.35896	0.021000	0.16686	0.006000	0.05464	2.036000	0.41165	0.120000	0.18254	-0.256000	0.11100	AAG		0.557	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		22	52	0	0	0	0	22	52				
WDR7	23335	broad.mit.edu	37	18	54385258	54385258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr18:54385258C>T	ENST00000254442.3	+	13	1853	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.R548*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	548					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCTAAGTTTGCGAGAGAAAAA	0.408																																						uc002lgk.1		NA																	0				ovary(2)|skin(1)	3						c.(1642-1644)CGA>TGA		rabconnectin-3 beta isoform 1							154.0	141.0	146.0					18																	54385258		2203	4300	6503	SO:0001587	stop_gained	23335							g.chr18:54385258C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1642C>T	18.37:g.54385258C>T	ENSP00000254442:p.Arg548*					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Nonsense_Mutation_p.R548*	p.R548*	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	13	1853	+			548					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Nonsense_Mutation	SNP	ENST00000254442.3	37	c.1642C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	41	8.588056	0.98875	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	.	.	.	5.59	2.41	0.29592	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	16.5403	0.84383	0.2457:0.7543:0.0:0.0	.	.	.	.	X	548	.	ENSP00000254442:R548X	R	+	1	2	WDR7	52536256	0.983000	0.35010	0.997000	0.53966	0.998000	0.95712	0.234000	0.17930	0.686000	0.31488	0.655000	0.94253	CGA		0.408	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			21	35	0	0	0	0	21	35				
AP3D1	8943	broad.mit.edu	37	19	2121212	2121212	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:2121212G>A	ENST00000345016.5	-	13	1431	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	AP3D1_ENST00000355272.6_Silent_p.I400I|AP3D1_ENST00000350812.6_Silent_p.I231I|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000356926.4_Silent_p.I309I	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	400					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGTCAATGATCTTGGTGA	0.582																																						uc002luz.2		NA																	0					0						c.(1198-1200)ATC>ATT		adaptor-related protein complex 3, delta 1							187.0	206.0	200.0					19																	2121212		2168	4272	6440	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2121212G>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1200C>T	19.37:g.2121212G>A						AP3D1_uc002luy.2_Silent_p.I309I|AP3D1_uc002lva.2_Silent_p.I400I	p.I400I	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1423	-		Hepatocellular(1079;0.137)	400			HEAT 8.		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.1200C>T	CCDS42459.1																																																																																				0.582	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			26	26	0	0	0	0	26	26				
PIN1	5300	broad.mit.edu	37	19	9959816	9959816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:9959816G>A	ENST00000247970.4	+	4	455	c.433G>A	c.(433-435)Gag>Aag	p.E145K	PIN1_ENST00000588695.1_Missense_Mutation_p.E145K|PIN1_ENST00000380889.6_3'UTR|AC008752.3_ENST00000582439.1_RNA	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	145	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)			skin(3)	3						GCGGACGGGGGAGATGAGCGG	0.687																																						uc002mml.1		NA																	0				skin(1)	1						c.(433-435)GAG>AAG		protein (peptidyl-prolyl cis/trans isomerase)							55.0	49.0	51.0					19																	9959816		2203	4300	6503	SO:0001583	missense	5300				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding	g.chr19:9959816G>A		CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"""			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.433G>A	19.37:g.9959816G>A	ENSP00000247970:p.Glu145Lys					PIN1_uc002mmm.1_3'UTR|PIN1_uc002mmn.1_RNA	p.E145K	NM_006221	NP_006212	Q13526	PIN1_HUMAN			4	455	+			145			PpiC.		A8K4V9|Q53X75	Missense_Mutation	SNP	ENST00000247970.4	37	c.433G>A	CCDS12220.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681221	0.88542	.	.	ENSG00000127445	ENST00000247970;ENST00000380889	T	0.51325	0.71	4.09	4.09	0.47781	Peptidyl-prolyl cis-trans isomerase, PpiC-type (2);	0.222285	0.36665	N	0.002476	T	0.56396	0.1982	M	0.71206	2.165	0.58432	D	0.999997	B	0.32862	0.387	P	0.44921	0.464	T	0.57159	-0.7859	9	.	.	.	-25.3397	13.9228	0.63942	0.0:0.0:1.0:0.0	.	145	Q13526	PIN1_HUMAN	K	145;16	ENSP00000247970:E145K	.	E	+	1	0	PIN1	9820816	1.000000	0.71417	0.999000	0.59377	0.704000	0.40688	5.844000	0.69430	2.125000	0.65367	0.555000	0.69702	GAG		0.687	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451107.1			11	22	0	0	0	0	11	22				
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:10600447G>A	ENST00000171111.5	-	4	1955	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470C|KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.R470C(3)|p.R470S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TAAAGGAGACGATTGAGGACA	0.557																																						uc002moq.1		NA																	4	Substitution - Missense(4)		lung(4)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1408-1410)CGT>TGT		kelch-like ECH-associated protein 1							74.0	61.0	65.0					19																	10600447		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600447G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1408C>T	19.37:g.10600447G>A	ENSP00000171111:p.Arg470Cys					KEAP1_uc002mop.1_Missense_Mutation_p.R188C|KEAP1_uc002mor.1_Missense_Mutation_p.R470C	p.R470C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		4	1564	-			470			Kelch 3.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1408C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867320	0.32977	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.77877	-1.13;-1.13	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.055235	0.64402	D	0.000001	T	0.77598	0.4154	M	0.74647	2.275	0.80722	D	1	P	0.40083	0.702	B	0.39217	0.294	T	0.80473	-0.1367	10	0.72032	D	0.01	.	12.5198	0.56052	0.0:0.0:0.8334:0.1666	.	470	Q14145	KEAP1_HUMAN	C	470	ENSP00000171111:R470C;ENSP00000377245:R470C	ENSP00000171111:R470C	R	-	1	0	KEAP1	10461447	1.000000	0.71417	0.997000	0.53966	0.153000	0.21895	1.138000	0.31491	2.752000	0.94435	0.558000	0.71614	CGT		0.557	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		16	13	0	0	0	0	16	13				
SLC27A1	376497	broad.mit.edu	37	19	17597588	17597588	+	Silent	SNP	C	C	T	rs531250354		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:17597588C>T	ENST00000252595.7	+	2	481	c.384C>T	c.(382-384)ggC>ggT	p.G128G	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.G128G|SLC27A1_ENST00000598424.1_5'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	128					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCGCGCCGGGCGACGTGGTGG	0.697																																						uc002ngu.1		NA																	0					0						c.(382-384)GGC>GGT		solute carrier family 27, member 1							17.0	17.0	17.0					19																	17597588		2195	4294	6489	SO:0001819	synonymous_variant	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17597588C>T	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.384C>T	19.37:g.17597588C>T						SLC27A1_uc002ngt.1_Intron|SLC27A1_uc010xpp.1_5'UTR	p.G128G	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN			2	434	+			128			Cytoplasmic (Potential).		A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	c.384C>T	CCDS32953.1																																																																																				0.697	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		6	9	0	0	0	0	6	9				
ZNF100	163227	broad.mit.edu	37	19	21948566	21948566	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:21948566C>T	ENST00000358296.6	-	2	224	c.26G>A	c.(25-27)tGt>tAt	p.C9Y	ZNF100_ENST00000596452.1_5'UTR	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	9					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CTTGAGAGGACACATTCCATA	0.468																																						uc002nqi.2		NA																	0					0						c.(25-27)TGT>TAT		zinc finger protein 100							80.0	87.0	85.0					19																	21948566		2189	4299	6488	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21948566C>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.26G>A	19.37:g.21948566C>T	ENSP00000351042:p.Cys9Tyr						p.C9Y	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			2	225	-			9					Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.26G>A	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.869706	0.00063	.	.	ENSG00000197020	ENST00000358296	T	0.04809	3.55	0.461	-0.71	0.11234	.	.	.	.	.	T	0.01627	0.0052	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	8	0.02654	T	1	.	.	.	.	.	9	Q8IYN0	ZN100_HUMAN	Y	9	ENSP00000351042:C9Y	ENSP00000351042:C9Y	C	-	2	0	ZNF100	21740406	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-1.326000	0.02685	-0.326000	0.08564	0.298000	0.19748	TGT		0.468	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		17	45	0	0	0	0	17	45				
ZNF208	7757	broad.mit.edu	37	19	22155123	22155123	+	Missense_Mutation	SNP	T	T	G	rs376009484		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:22155123T>G	ENST00000397126.4	-	4	2861	c.2713A>C	c.(2713-2715)Act>Cct	p.T905P	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	905					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATGTTTAGTAAGGATGGAG	0.378																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(2413-2415)ACT>CCT		zinc finger protein 208							52.0	56.0	55.0					19																	22155123		2099	4233	6332	SO:0001583	missense	7757							g.chr19:22155123T>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2713A>C	19.37:g.22155123T>G	ENSP00000380315:p.Thr905Pro					ZNF208_uc002nqo.1_Intron	p.T805P	NM_007153	NP_009084					5	2562	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2413A>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496703	0.26861	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.19394	2.15	2.9	-5.81	0.02340	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27349	0.0671	.	.	.	0.09310	N	1	D	0.63880	0.993	D	0.68943	0.961	T	0.10800	-1.0614	8	0.31617	T	0.26	.	3.2933	0.06957	0.411:0.2112:0.0:0.3778	.	805	O43345	ZN208_HUMAN	P	905;805	ENSP00000380315:T905P	ENSP00000380315:T905P	T	-	1	0	ZNF208	21946963	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.412000	0.02476	-1.111000	0.02988	0.240000	0.17902	ACT		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		8	28	0	0	0	0	8	28				
ZFP30	22835	broad.mit.edu	37	19	38127001	38127001	+	Silent	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:38127001C>G	ENST00000351218.2	-	6	998	c.441G>C	c.(439-441)ctG>ctC	p.L147L	ZFP30_ENST00000514101.2_Silent_p.L147L|ZFP30_ENST00000392144.1_Silent_p.L147L|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	147					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)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCTGATACAGAGGAAGAG	0.393																																						uc002ogv.1		NA																	0					0						c.(439-441)CTG>CTC		zinc finger protein 30 homolog							105.0	112.0	110.0					19																	38127001		2199	4300	6499	SO:0001819	synonymous_variant	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38127001C>G	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.441G>C	19.37:g.38127001C>G						ZFP30_uc002ogw.1_Silent_p.L147L|ZFP30_uc002ogx.1_Silent_p.L147L|ZFP30_uc010xtt.1_Silent_p.L146L	p.L147L	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	957	-			147					Q58EY8	Silent	SNP	ENST00000351218.2	37	c.441G>C	CCDS33005.1																																																																																				0.393	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		22	150	0	0	0	0	22	150				
NUMBL	9253	broad.mit.edu	37	19	41188693	41188693	+	Silent	SNP	G	G	A	rs376443919		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:41188693G>A	ENST00000252891.4	-	5	506	c.339C>T	c.(337-339)tcC>tcT	p.S113S	NUMBL_ENST00000598779.1_Silent_p.S72S|NUMBL_ENST00000540131.1_Silent_p.S72S|NUMBL_ENST00000599594.1_5'Flank	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)		p.S113S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGACTTCACGGACTTTCGGC	0.652																																						uc002oon.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	lung(3)|ovary(1)|breast(1)	5						c.(337-339)TCC>TCT		numb homolog (Drosophila)-like		G		1,4405	2.1+/-5.4	0,1,2202	97.0	88.0	91.0		339	-7.9	0.9	19		91	0,8600		0,0,4300	no	coding-synonymous	NUMBL	NM_004756.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		113/610	41188693	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41188693G>A	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.339C>T	19.37:g.41188693G>A						NUMBL_uc010xvq.1_Silent_p.S72S|NUMBL_uc002ooo.2_Silent_p.S113S|NUMBL_uc010xvr.1_Silent_p.S72S	p.S113S	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		5	507	-			113			PID.		Q7Z4J9	Silent	SNP	ENST00000252891.4	37	c.339C>T	CCDS12561.1																																																																																				0.652	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		17	133	0	0	0	0	17	133				
ARHGAP35	2909	broad.mit.edu	37	19	47423172	47423172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:47423172C>T	ENST00000404338.3	+	1	1240	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	414	FF 2.			Q -> A (in Ref. 5; AAF80386 and 6; AAA58618). {ECO:0000305}.	axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CCCTGCAGAGCAGCTATACGA	0.468																																						uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(1240-1242)CAG>TAG		glucocorticoid receptor DNA binding factor 1							121.0	115.0	117.0					19																	47423172		1914	4113	6027	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423172C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1240C>T	19.37:g.47423172C>T	ENSP00000385720:p.Gln414*						p.Q414*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	1240	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	414	Q -> A (in Ref. 1; AAF80386 and 6; AAA58618).		FF 2.		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.1240C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	36	5.758349	0.96898	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	6.03	6.03	0.97812	.	0.294620	0.38058	N	0.001828	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.9564	14.8832	0.70547	0.0:0.8567:0.1433:0.0	.	.	.	.	X	414	.	ENSP00000324820:Q414X	Q	+	1	0	ARHGAP35	52115012	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.357000	0.34090	2.861000	0.98227	0.655000	0.94253	CAG		0.468	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		73	30	0	0	0	0	73	30				
KDELR1	10945	broad.mit.edu	37	19	48887692	48887692	+	Silent	SNP	C	C	T	rs202051456		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:48887692C>T	ENST00000330720.2	-	4	593	c.399G>A	c.(397-399)ccG>ccA	p.P133P	KDELR1_ENST00000597017.1_Silent_p.P71P	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	133					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TGAACAGCTGCGGCAAGATGG	0.582																																						uc002pjb.1		NA																	0					0						c.(397-399)CCG>CCA		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum		C		0,4406		0,0,2203	46.0	41.0	43.0		399	-5.9	1.0	19		43	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KDELR1	NM_006801.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		133/213	48887692	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10945				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	g.chr19:48887692C>T	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.399G>A	19.37:g.48887692C>T						KDELR1_uc002pja.1_Silent_p.P71P	p.P133P	NM_006801	NP_006792	P24390	ERD21_HUMAN		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	4	594	-		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)	133			Helical; (Potential).		B2R6N4|Q54A39|Q8NBW7	Silent	SNP	ENST00000330720.2	37	c.399G>A	CCDS12718.1																																																																																				0.582	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1			10	8	0	0	0	0	10	8				
KLK4	9622	broad.mit.edu	37	19	51411651	51411651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:51411651G>T	ENST00000324041.1	-	4	575	c.576C>A	c.(574-576)tgC>tgA	p.C192*	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Intron	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	192	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CTCCGCCGGCGCAGAACATGC	0.622																																						uc002pua.1		NA																	0					0						c.(574-576)TGC>TGA		kallikrein-related peptidase 4 preproprotein							108.0	93.0	98.0					19																	51411651		2203	4300	6503	SO:0001587	stop_gained	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51411651G>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.576C>A	19.37:g.51411651G>T	ENSP00000326159:p.Cys192*					KLK4_uc002pty.1_Intron|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Nonsense_Mutation_p.C97*|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_3'UTR|KLK4_uc002pud.1_Nonsense_Mutation_p.C97*	p.C192*	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	4	576	-		all_neural(266;0.026)	192			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Nonsense_Mutation	SNP	ENST00000324041.1	37	c.576C>A	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	g	14.01	2.406748	0.42715	.	.	ENSG00000167749	ENST00000324041	.	.	.	3.68	-5.5	0.02576	.	0.000000	0.39210	N	0.001435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.116	0.25416	0.6949:0.0:0.1647:0.1404	.	.	.	.	X	192	.	ENSP00000326159:C192X	C	-	3	2	KLK4	56103463	0.845000	0.29573	0.071000	0.20095	0.006000	0.05464	-0.338000	0.07842	-0.918000	0.03808	-0.378000	0.06908	TGC		0.622	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		56	52	1	0	6.31e-27	7.68e-27	56	52				
ZNF320	162967	broad.mit.edu	37	19	53384345	53384345	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:53384345T>A	ENST00000595635.1	-	8	1535	c.1034A>T	c.(1033-1035)gAa>gTa	p.E345V	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.E345V	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CCTATGTCTTTCAAGATGTGA	0.428																																						uc002qag.2		NA																	0					0						c.(1033-1035)GAA>GTA		zinc finger protein 320							102.0	98.0	99.0					19																	53384345		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384345T>A	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1034A>T	19.37:g.53384345T>A	ENSP00000473091:p.Glu345Val					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.E291V|ZNF320_uc002qai.2_Missense_Mutation_p.E345V	p.E345V	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1225	-			345			C2H2-type 7.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1034A>T	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	3.308	-0.141396	0.06669	.	.	ENSG00000182986	ENST00000391781	T	0.08008	3.14	1.8	-3.61	0.04556	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.16656	0.425	0.09310	N	1	B	0.23185	0.081	B	0.26094	0.066	T	0.39210	-0.9625	9	0.36615	T	0.2	.	3.4323	0.07433	0.3386:0.0:0.2807:0.3807	.	345	A2RRD8	ZN320_HUMAN	V	345	ENSP00000375660:E345V	ENSP00000375660:E345V	E	-	2	0	ZNF320	58076157	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.908000	0.01587	-1.777000	0.01283	-1.078000	0.02229	GAA		0.428	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		66	25	0	0	0	0	66	25				
TMEM150B	284417	broad.mit.edu	37	19	55831420	55831420	+	Missense_Mutation	SNP	A	A	T	rs373133465		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:55831420A>T	ENST00000326652.4	-	6	493	c.311T>A	c.(310-312)gTa>gAa	p.V104E	TMEM150B_ENST00000438693.1_Missense_Mutation_p.V104E	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	104						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						GAAATTGCCTACCACGGAGGT	0.617																																						uc010esw.1		NA																	0					0						c.(310-312)GTA>GAA		transmembrane protein 150B precursor							59.0	59.0	59.0					19																	55831420		1932	4126	6058	SO:0001583	missense	284417					integral to membrane		g.chr19:55831420A>T	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.311T>A	19.37:g.55831420A>T	ENSP00000320757:p.Val104Glu					TMEM150B_uc010yfu.1_Missense_Mutation_p.V104E|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA|TMEM150B_uc002qki.2_Missense_Mutation_p.V104E	p.V104E	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN			6	484	-			104			Helical; (Potential).		B7ZW71	Missense_Mutation	SNP	ENST00000326652.4	37	c.311T>A	CCDS42629.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.141976	0.57044	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	T;T	0.54675	0.56;0.56	5.03	4.01	0.46588	.	0.070231	0.56097	D	0.000040	T	0.73225	0.3560	M	0.89785	3.06	0.58432	D	0.999995	D	0.76494	0.999	D	0.72338	0.977	T	0.74996	-0.3473	10	0.87932	D	0	-21.7017	7.6211	0.28185	0.9013:0.0:0.0987:0.0	.	104	A6NC51	T150B_HUMAN	E	104	ENSP00000320757:V104E;ENSP00000412658:V104E	ENSP00000320757:V104E	V	-	2	0	TMEM150B	60523232	0.999000	0.42202	0.357000	0.25798	0.554000	0.35429	5.226000	0.65299	0.883000	0.36040	0.459000	0.35465	GTA		0.617	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		63	12	0	0	0	0	63	12				
ZSCAN1	284312	broad.mit.edu	37	19	58565249	58565249	+	Missense_Mutation	SNP	C	C	T	rs372351161		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:58565249C>T	ENST00000282326.1	+	6	1304	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	353					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAAAGCCCCCCGGAGCAAGGG	0.662																																						uc002qrc.1		NA																	0				ovary(2)	2						c.(1057-1059)CGG>TGG		zinc finger and SCAN domain containing 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	36.0	36.0	36.0		1057	1.4	0.0	19		36	0,8600		0,0,4300	no	missense	ZSCAN1	NM_182572.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	353/409	58565249	1,13005	2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565249C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.1057C>T	19.37:g.58565249C>T	ENSP00000282326:p.Arg353Trp						p.R353W	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1304	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	353					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.1057C>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805443	0.31961	2.27E-4	0.0	ENSG00000152467	ENST00000282326	T	0.04551	3.6	1.38	1.38	0.22167	.	.	.	.	.	T	0.04272	0.0118	N	0.08118	0	0.09310	N	0.999999	D	0.64830	0.994	P	0.52598	0.703	T	0.42732	-0.9434	9	0.66056	D	0.02	.	4.8248	0.13410	0.3619:0.6381:0.0:0.0	.	353	Q8NBB4	ZSCA1_HUMAN	W	353	ENSP00000282326:R353W	ENSP00000282326:R353W	R	+	1	2	ZSCAN1	63257061	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-2.614000	0.00883	1.063000	0.40649	0.491000	0.48974	CGG		0.662	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		27	11	0	0	0	0	27	11				
ASAP2	8853	broad.mit.edu	37	2	9528612	9528612	+	Missense_Mutation	SNP	G	G	C	rs374864722		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:9528612G>C	ENST00000281419.3	+	22	2660	c.2320G>C	c.(2320-2322)Gcc>Ccc	p.A774P	ASAP2_ENST00000315273.4_Missense_Mutation_p.A774P|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	774	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCCACCTCCCGCCCAGCCTGC	0.587																																						uc002qzh.2		NA																	0					0						c.(2320-2322)GCC>CCC		ArfGAP with SH3 domain, ankyrin repeat and PH							26.0	32.0	30.0					2																	9528612		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9528612G>C	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2320G>C	2.37:g.9528612G>C	ENSP00000281419:p.Ala774Pro					ASAP2_uc002qzi.2_Missense_Mutation_p.A774P	p.A774P	NM_003887	NP_003878	O43150	ASAP2_HUMAN			22	2660	+			774			Pro-rich.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.2320G>C	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	6.013	0.370825	0.11409	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.57907	0.43;0.37	5.58	-11.2	0.00127	.	2.572710	0.00687	N	0.000719	T	0.23965	0.0580	N	0.04880	-0.145	0.09310	N	1	B;B	0.26195	0.144;0.065	B;B	0.23852	0.049;0.032	T	0.05451	-1.0884	10	0.17832	T	0.49	.	8.1707	0.31254	0.3428:0.0:0.4581:0.1991	.	774;774	O43150-2;O43150	.;ASAP2_HUMAN	P	774	ENSP00000281419:A774P;ENSP00000316404:A774P	ENSP00000281419:A774P	A	+	1	0	ASAP2	9446063	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.927000	0.03984	-1.701000	0.01413	-1.191000	0.01696	GCC		0.587	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		4	23	0	0	0	0	4	23				
LRRTM1	347730	broad.mit.edu	37	2	80530203	80530203	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:80530203C>T	ENST00000295057.3	-	2	1398	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V248M|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	248					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGCTGACCACAATGGCCACC	0.592										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(742-744)GTG>ATG		leucine rich repeat transmembrane neuronal 1							92.0	88.0	89.0					2																	80530203		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530203C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.742G>A	2.37:g.80530203C>T	ENSP00000295057:p.Val248Met	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.V248M	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1012	-			248			LRR 7.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.742G>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616900	0.46736	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.80566	-1.39;-1.39	5.26	5.26	0.73747	.	0.070910	0.56097	U	0.000036	D	0.82375	0.5023	L	0.37630	1.12	0.58432	D	0.999999	D	0.61697	0.99	P	0.55455	0.776	T	0.81072	-0.1098	9	.	.	.	.	18.8459	0.92205	0.0:1.0:0.0:0.0	.	248	Q86UE6	LRRT1_HUMAN	M	248	ENSP00000295057:V248M;ENSP00000386646:V248M	.	V	-	1	0	LRRTM1	80383714	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	4.024000	0.57218	2.416000	0.81992	0.655000	0.94253	GTG		0.592	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		18	55	0	0	0	0	18	55				
PROM2	150696	broad.mit.edu	37	2	95947688	95947688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:95947688G>A	ENST00000317620.9	+	13	1700	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	PROM2_ENST00000542147.1_Missense_Mutation_p.G523R|PROM2_ENST00000317668.4_Missense_Mutation_p.G523R|PROM2_ENST00000403131.2_Missense_Mutation_p.G523R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	523					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGACACCCCAGGGAACCTGCC	0.627																																						uc002suh.1		NA																	0				ovary(1)	1						c.(1567-1569)GGG>AGG		prominin 2 precursor							98.0	93.0	95.0					2																	95947688		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95947688G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1567G>A	2.37:g.95947688G>A	ENSP00000318270:p.Gly523Arg					PROM2_uc002sui.2_Missense_Mutation_p.G523R|PROM2_uc002suj.2_Missense_Mutation_p.G177R|PROM2_uc002suk.2_Missense_Mutation_p.G523R|PROM2_uc002sul.2_Missense_Mutation_p.G49R|PROM2_uc002sum.2_RNA	p.G523R	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			13	1700	+			523			Extracellular (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1567G>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338345	0.60963	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.18	5.18	0.71444	.	0.382686	0.25747	N	0.028565	T	0.60483	0.2272	M	0.74881	2.28	0.46298	D	0.998974	D	0.62365	0.991	D	0.65010	0.931	T	0.57112	-0.7867	10	0.24483	T	0.36	-21.2777	14.2585	0.66067	0.0:0.0:1.0:0.0	.	523	Q8N271	PROM2_HUMAN	R	523	ENSP00000385716:G523R;ENSP00000318520:G523R;ENSP00000318270:G523R;ENSP00000442542:G523R	ENSP00000318270:G523R	G	+	1	0	PROM2	95311415	1.000000	0.71417	0.957000	0.39632	0.903000	0.53119	5.944000	0.70219	2.430000	0.82344	0.555000	0.69702	GGG		0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		19	39	0	0	0	0	19	39				
ITPRIPL1	150771	broad.mit.edu	37	2	96993685	96993685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:96993685C>T	ENST00000439118.2	+	3	1567	c.1316C>T	c.(1315-1317)gCa>gTa	p.A439V	ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.A447V|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.A431V|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.A431V	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	439						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCCATGGAGCATCCCGCCCC	0.562																																						uc002svx.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1315-1317)GCA>GTA		inositol 1,4,5-triphosphate receptor interacting							106.0	105.0	105.0					2																	96993685		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96993685C>T		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1316C>T	2.37:g.96993685C>T	ENSP00000389308:p.Ala439Val					ITPRIPL1_uc010yuk.1_Missense_Mutation_p.A431V|ITPRIPL1_uc002svy.2_Missense_Mutation_p.A447V|ITPRIPL1_uc010yul.1_Missense_Mutation_p.A431V	p.A439V	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	1651	+			439			Cytoplasmic (Potential).		F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.1316C>T	CCDS46360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.911|5.911	0.352110|0.352110	0.11182|0.11182	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887|ENST00000420728	T;T;T;T|.	0.08370|.	3.1;3.1;3.1;3.1|.	5.38|5.38	3.4|3.4	0.38934|0.38934	.|.	0.404899|.	0.18166|.	N|.	0.149621|.	T|T	0.22820|0.22820	0.0551|0.0551	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|.	0.18968|.	0.026;0.032|.	B;B|.	0.22386|.	0.023;0.039|.	T|T	0.15122|0.15122	-1.0448|-1.0448	10|5	0.38643|.	T|.	0.18|.	-2.0966|-2.0966	3.6748|3.6748	0.08287|0.08287	0.2223:0.6068:0.0:0.1709|0.2223:0.6068:0.0:0.1709	.|.	447;439|.	Q6GPH6-2;Q6GPH6|.	.;IPIL1_HUMAN|.	V|Y	431;439;447;431|471	ENSP00000439566:A431V;ENSP00000389308:A439V;ENSP00000355121:A447V;ENSP00000438212:A431V|.	ENSP00000355121:A447V|.	A|H	+|+	2|1	0|0	ITPRIPL1|ITPRIPL1	96357412|96357412	0.876000|0.876000	0.30132|0.30132	0.485000|0.485000	0.27403|0.27403	0.288000|0.288000	0.27193|0.27193	1.120000|1.120000	0.31271|0.31271	1.464000|1.464000	0.47987|0.47987	0.655000|0.655000	0.94253|0.94253	GCA|CAT		0.562	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		42	67	0	0	0	0	42	67				
RAB3GAP1	22930	broad.mit.edu	37	2	135911438	135911438	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:135911438G>A	ENST00000264158.8	+	19	2324	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A717T|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A761T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	761					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TACACGGGAAGCAGAAAAGGT	0.418																																						uc002tuj.2		NA																	0				ovary(1)|skin(1)	2						c.(2281-2283)GCA>ACA		RAB3 GTPase-activating protein							78.0	76.0	77.0					2																	135911438		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135911438G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2281G>A	2.37:g.135911438G>A	ENSP00000264158:p.Ala761Thr					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.A761T|RAB3GAP1_uc010fng.2_Missense_Mutation_p.A586T|RAB3GAP1_uc010fnh.1_RNA	p.A761T	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	19	2306	+			761					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2281G>A	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511793	0.96402	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.57907	0.38;0.37;0.38	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83299	-0.0029	10	0.87932	D	0	-18.6849	19.5144	0.95157	0.0:0.0:1.0:0.0	.	761;761	C9J837;Q15042	.;RB3GP_HUMAN	T	761;717;761	ENSP00000264158:A761T;ENSP00000444306:A717T;ENSP00000411418:A761T	ENSP00000264158:A761T	A	+	1	0	RAB3GAP1	135627908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.817000	0.99352	2.618000	0.88619	0.655000	0.94253	GCA		0.418	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		5	36	0	0	0	0	5	36				
ZEB2	9839	broad.mit.edu	37	2	145187516	145187516	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:145187516C>T	ENST00000558170.2	-	3	1335	c.151G>A	c.(151-153)Ggt>Agt	p.G51S	ZEB2_ENST00000409487.3_Missense_Mutation_p.G51S|ZEB2_ENST00000303660.4_Missense_Mutation_p.G51S|ZEB2_ENST00000539609.3_Missense_Mutation_p.G51S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	51					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGGCAATACCGTCATCCTCA	0.502																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(151-153)GGT>AGT		zinc finger homeobox 1b							140.0	109.0	119.0					2																	145187516		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145187516C>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.151G>A	2.37:g.145187516C>T	ENSP00000454157:p.Gly51Ser					ZEB2_uc002tvv.2_Missense_Mutation_p.G46S|ZEB2_uc010zbm.1_Missense_Mutation_p.G46S|ZEB2_uc010fnp.2_Missense_Mutation_p.G46S|ZEB2_uc010fnq.1_Missense_Mutation_p.G80S|ZEB2_uc002tvw.2_Missense_Mutation_p.G46S	p.G51S	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	3	631	-			51					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.151G>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	5.440	0.266247	0.10294	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861;ENST00000409211;ENST00000435831;ENST00000444559	T;T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.7	4.82	0.62117	.	0.263257	0.38663	N	0.001605	T	0.46560	0.1399	N	0.01705	-0.755	0.20873	N	0.999833	B;B;B;B;B	0.34241	0.042;0.004;0.444;0.004;0.004	B;B;B;B;B	0.18263	0.01;0.005;0.021;0.003;0.003	T	0.51340	-0.8718	10	0.02654	T	1	-5.8275	9.323	0.37975	0.0:0.7689:0.0:0.2311	.	51;51;51;51;51	F5H814;B7Z2P2;E7ESP8;A0JP08;O60315	.;.;.;.;ZEB2_HUMAN	S	46;51;51;51;51;51;51;51;51	ENSP00000443792:G51S;ENSP00000302501:G51S;ENSP00000386854:G51S;ENSP00000395496:G51S;ENSP00000376601:G51S;ENSP00000387256:G51S;ENSP00000400993:G51S;ENSP00000399451:G51S	ENSP00000302501:G51S	G	-	1	0	ZEB2	144903986	0.996000	0.38824	0.880000	0.34516	0.956000	0.61745	0.987000	0.29603	1.382000	0.46385	0.650000	0.86243	GGT		0.502	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		12	79	0	0	0	0	12	79				
SSFA2	6744	broad.mit.edu	37	2	182783567	182783567	+	Missense_Mutation	SNP	G	G	A	rs369300058		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:182783567G>A	ENST00000431877.2	+	13	3130	c.2951G>A	c.(2950-2952)cGt>cAt	p.R984H	SSFA2_ENST00000409136.1_Missense_Mutation_p.R493H|SSFA2_ENST00000320370.7_Missense_Mutation_p.R984H|SSFA2_ENST00000409001.1_Missense_Mutation_p.R984H|SSFA2_ENST00000428267.2_Missense_Mutation_p.R831H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	984						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCAATGCTGCGTCAGCAAACC	0.383																																						uc002uoi.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2950-2952)CGT>CAT		sperm specific antigen 2 isoform 1		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	66.0	68.0	67.0		2951,2951	5.2	1.0	2		67	0,8600		0,0,4300	no	missense,missense	SSFA2	NM_001130445.1,NM_006751.5	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	984/1260,984/1257	182783567	1,13005	2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182783567G>A	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2951G>A	2.37:g.182783567G>A	ENSP00000388731:p.Arg984His					SSFA2_uc002uoh.2_Missense_Mutation_p.R984H|SSFA2_uc002uoj.2_Missense_Mutation_p.R984H|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.R831H|SSFA2_uc002uol.2_Missense_Mutation_p.R831H|SSFA2_uc002uom.2_Missense_Mutation_p.R452H	p.R984H	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		13	3273	+			984			Potential.		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2951G>A	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739764	0.89573	2.27E-4	0.0	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	6.11	5.24	0.73138	.	0.099651	0.64402	D	0.000001	T	0.60599	0.2281	M	0.74881	2.28	0.52501	D	0.999954	P;D;P;P;P	0.89917	0.76;1.0;0.76;0.76;0.76	B;D;B;B;B	0.79108	0.105;0.992;0.147;0.147;0.147	T	0.64491	-0.6395	10	0.56958	D	0.05	-14.705	15.4263	0.75055	0.0661:0.0:0.9339:0.0	.	831;493;984;984;984	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	H	984;984;984;831;493	ENSP00000388731:R984H;ENSP00000314669:R984H;ENSP00000387319:R984H;ENSP00000409867:R831H;ENSP00000386916:R493H	ENSP00000314669:R984H	R	+	2	0	SSFA2	182491812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.252000	0.89840	1.605000	0.50152	0.655000	0.94253	CGT		0.383	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		19	64	0	0	0	0	19	64				
KIF1A	547	broad.mit.edu	37	2	241706365	241706365	+	Missense_Mutation	SNP	C	C	T	rs373891682		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:241706365C>T	ENST00000320389.7	-	18	1782	c.1624G>A	c.(1624-1626)Gtc>Atc	p.V542I	KIF1A_ENST00000498729.2_Missense_Mutation_p.V551I	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	542	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCGGAAGACGCAGTGCTCC	0.637																																						uc002vzy.2		NA																	0				lung(1)	1						c.(1624-1626)GTC>ATC		axonal transport of synaptic vesicles		C	ILE/VAL	1,4311		0,1,2155	39.0	45.0	43.0		1624	-0.1	0.6	2		43	0,8486		0,0,4243	no	missense	KIF1A	NM_004321.5	29	0,1,6398	TT,TC,CC		0.0,0.0232,0.0078	benign	542/1691	241706365	1,12797	2156	4243	6399	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241706365C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1624G>A	2.37:g.241706365C>T	ENSP00000322791:p.Val542Ile					KIF1A_uc010fzk.2_Missense_Mutation_p.V551I|KIF1A_uc002vzz.1_Missense_Mutation_p.V551I	p.V542I	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	18	1770	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	542			FHA.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1624G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	2.795	-0.250394	0.05867	2.32E-4	0.0	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.86769	-2.17;-2.17;-2.17	3.78	-0.0951	0.13642	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.424839	0.23729	N	0.045145	T	0.61677	0.2366	N	0.03224	-0.385	0.21897	N	0.999488	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.54510	-0.8283	10	0.02654	T	1	.	5.435	0.16476	0.0:0.2169:0.2203:0.5628	.	551;551;542	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	I	542;551;551;551	ENSP00000322791:V542I;ENSP00000438388:V551I;ENSP00000384231:V551I	ENSP00000322791:V542I	V	-	1	0	KIF1A	241355038	0.783000	0.28701	0.597000	0.28824	0.846000	0.48090	0.474000	0.22148	0.028000	0.15324	0.298000	0.19748	GTC		0.637	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		4	8	0	0	0	0	4	8				
SUN5	140732	broad.mit.edu	37	20	31583478	31583478	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:31583478T>A	ENST00000356173.3	-	8	573	c.481A>T	c.(481-483)Agc>Tgc	p.S161C	SUN5_ENST00000375523.3_Missense_Mutation_p.S136C	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	161					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGGTTCATGCTACCTCGGAGG	0.493																																						uc002wyi.2		NA																	0				skin(1)	1						c.(481-483)AGC>TGC		sperm associated antigen 4-like							279.0	232.0	248.0					20																	31583478		2203	4300	6503	SO:0001583	missense	140732				spermatogenesis			g.chr20:31583478T>A	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.481A>T	20.37:g.31583478T>A	ENSP00000348496:p.Ser161Cys						p.S161C	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			8	574	-			161			Potential.		A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.481A>T	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582159	0.65992	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.12879	2.64;2.65	5.95	3.51	0.40186	.	0.550760	0.17976	N	0.155716	T	0.16171	0.0389	L	0.43152	1.355	0.52501	D	0.999958	D	0.55800	0.973	P	0.46975	0.533	T	0.01757	-1.1280	10	0.62326	D	0.03	-20.846	10.9175	0.47146	0.0:0.0:0.3142:0.6858	.	161	Q8TC36	SUN5_HUMAN	C	161;136	ENSP00000348496:S161C;ENSP00000364673:S136C	ENSP00000348496:S161C	S	-	1	0	SUN5	31047139	0.851000	0.29673	0.985000	0.45067	0.916000	0.54674	0.886000	0.28241	1.056000	0.40484	0.533000	0.62120	AGC		0.493	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		44	246	0	0	0	0	44	246				
ZHX3	23051	broad.mit.edu	37	20	39832157	39832157	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:39832157G>A	ENST00000309060.3	-	4	1815	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	ZHX3_ENST00000560361.1_Missense_Mutation_p.T467M|ZHX3_ENST00000559234.1_Missense_Mutation_p.T467M|ZHX3_ENST00000432768.2_Missense_Mutation_p.T467M|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.T467M|ZHX3_ENST00000544979.2_Missense_Mutation_p.T467M|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	467	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CACAGCTGACGTTGTATTTGA	0.542																																						uc002xjs.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1399-1401)ACG>ATG		zinc fingers and homeoboxes 3							69.0	54.0	59.0					20																	39832157		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832157G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1400C>T	20.37:g.39832157G>A	ENSP00000312222:p.Thr467Met					ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.T467M|ZHX3_uc002xjt.1_Missense_Mutation_p.T467M|ZHX3_uc002xju.1_Missense_Mutation_p.T467M|ZHX3_uc002xjv.1_Missense_Mutation_p.T467M|ZHX3_uc002xjw.1_Missense_Mutation_p.T467M|ZHX3_uc010ggg.1_Missense_Mutation_p.T467M	p.T467M	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN			3	1778	-		Myeloproliferative disorder(115;0.00425)	467			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.1400C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356126	0.41700	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.32272	1.46;2.9;2.9;2.69;1.46	5.93	5.93	0.95920	.	0.719210	0.13964	N	0.350629	T	0.29882	0.0747	N	0.08118	0	0.09310	N	0.999992	P;P;D	0.61080	0.698;0.865;0.989	B;B;P	0.50617	0.132;0.247;0.646	T	0.37641	-0.9697	10	0.42905	T	0.14	-2.0508	20.3437	0.98782	0.0:0.0:1.0:0.0	.	467;467;467	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	M	467;467;467;467;245;467	ENSP00000312222:T467M;ENSP00000362360:T467M;ENSP00000442290:T467M;ENSP00000443783:T467M;ENSP00000415498:T467M	ENSP00000312222:T467M	T	-	2	0	ZHX3	39265571	0.995000	0.38212	0.046000	0.18839	0.949000	0.60115	7.398000	0.79919	2.815000	0.96918	0.561000	0.74099	ACG		0.542	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		6	20	0	0	0	0	6	20				
DIDO1	11083	broad.mit.edu	37	20	61512534	61512534	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:61512534C>T	ENST00000266070.4	-	16	5099	c.4774G>A	c.(4774-4776)Gag>Aag	p.E1592K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1592K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1592					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCATCTCTCTCGGGCAGGGCA	0.711																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(4774-4776)GAG>AAG		death inducer-obliterator 1 isoform c							10.0	13.0	12.0					20																	61512534		2008	4022	6030	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512534C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4774G>A	20.37:g.61512534C>T	ENSP00000266070:p.Glu1592Lys					DIDO1_uc002yds.1_Missense_Mutation_p.E1592K	p.E1592K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5038	-	Breast(26;5.68e-08)		1592					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4774G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	6.036	0.374961	0.11409	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.07908	3.15;3.15	4.71	-9.43	0.00607	.	2.123750	0.03167	U	0.170221	T	0.02119	0.0066	N	0.03608	-0.345	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.37549	-0.9701	10	0.06365	T	0.9	0.1308	0.9525	0.01379	0.1817:0.2487:0.286:0.2835	.	1592	Q9BTC0	DIDO1_HUMAN	K	1592	ENSP00000266070:E1592K;ENSP00000378752:E1592K	ENSP00000266070:E1592K	E	-	1	0	DIDO1	60982979	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.503000	0.02277	-1.795000	0.01255	-0.137000	0.14449	GAG		0.711	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		13	15	0	0	0	0	13	15				
PWP2	5822	broad.mit.edu	37	21	45535281	45535281	+	Splice_Site	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr21:45535281G>A	ENST00000291576.7	+	6	733		c.e6+1			NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CAGCCTGGACGTATGTCCCTT	0.602																																						uc002zeb.2		NA																	0				pancreas(1)	1						c.e6+1		PWP2 periodic tryptophan protein homolog							141.0	138.0	139.0					21																	45535281		2203	4300	6503	SO:0001630	splice_region_variant	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45535281G>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.606+1G>A	21.37:g.45535281G>A							p.D202_splice	NM_005049	NP_005040	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	6	696	+								B2RAG8|Q96A77	Splice_Site	SNP	ENST00000291576.7	37	c.606_splice	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100254	0.37048	.	.	ENSG00000241945	ENST00000291576;ENST00000456705	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1005	0.86648	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PWP2	44359709	1.000000	0.71417	0.365000	0.25901	0.163000	0.22366	9.480000	0.97931	2.223000	0.72356	0.655000	0.94253	.		0.602	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049	Intron	28	84	0	0	0	0	28	84				
C21orf58	54058	broad.mit.edu	37	21	47737166	47737166	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr21:47737166C>A	ENST00000291691.7	-	3	1462	c.326G>T	c.(325-327)cGg>cTg	p.R109L	C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397685.4_Missense_Mutation_p.R26L	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	109										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CACGTTCTGCCGTTCTTGCTC	0.597																																						uc002zjf.2		NA																	0				pancreas(1)	1						c.(325-327)CGG>CTG		hypothetical protein LOC54058							61.0	47.0	52.0					21																	47737166		2200	4300	6500	SO:0001583	missense	54058							g.chr21:47737166C>A		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.326G>T	21.37:g.47737166C>A	ENSP00000291691:p.Arg109Leu					C21orf58_uc002ziz.2_Missense_Mutation_p.R26L|C21orf58_uc002zja.2_5'UTR|C21orf58_uc011afw.1_Missense_Mutation_p.R26L|C21orf58_uc002zjc.2_5'UTR|C21orf58_uc011afx.1_5'UTR|C21orf58_uc010gqj.1_RNA|C21orf58_uc002zjg.1_RNA	p.R109L	NM_058180	NP_478060	P58505	CU058_HUMAN		Colorectal(79;0.239)	4	1460	-	Breast(49;0.112)		109					B3KPI1	Missense_Mutation	SNP	ENST00000291691.7	37	c.326G>T	CCDS13735.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659868	0.47572	.	.	ENSG00000160298	ENST00000417060;ENST00000291691;ENST00000397685	T;T;T	0.21031	2.03;2.03;2.03	4.61	3.73	0.42828	.	0.081599	0.46442	D	0.000294	T	0.38480	0.1042	L	0.60455	1.87	0.42249	D	0.991964	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.16719	-1.0393	10	0.72032	D	0.01	-15.2934	9.0187	0.36186	0.0:0.8958:0.0:0.1042	.	109;109	P58505;P58505-2	CU058_HUMAN;.	L	71;109;26	ENSP00000402356:R71L;ENSP00000291691:R109L;ENSP00000380801:R26L	ENSP00000291691:R109L	R	-	2	0	C21orf58	46561594	0.994000	0.37717	0.916000	0.36221	0.221000	0.24807	1.903000	0.39858	1.071000	0.40834	-0.140000	0.14226	CGG		0.597	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180		10	9	1	0	0.000673444	0.000700932	10	9				
EP300	2033	broad.mit.edu	37	22	41566521	41566521	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr22:41566521G>C	ENST00000263253.7	+	27	5617	c.4398G>C	c.(4396-4398)tgG>tgC	p.W1466C	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1466	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCAGGAATGGTACAAAAAAA	0.473			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4396-4398)TGG>TGC		E1A binding protein p300							127.0	108.0	115.0					22																	41566521		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566521G>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4398G>C	22.37:g.41566521G>C	ENSP00000263253:p.Trp1466Cys						p.W1466C	NM_001429	NP_001420	Q09472	EP300_HUMAN			27	4793	+			1466					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4398G>C	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984625	0.74474	.	.	ENSG00000100393	ENST00000263253	D	0.99748	-6.62	5.5	5.5	0.81552	.	0.000000	0.43260	D	0.000597	D	0.99792	0.9912	H	0.94345	3.525	0.80722	D	1	D	0.63880	0.993	D	0.63597	0.916	D	0.97204	0.9866	10	0.87932	D	0	-4.1369	19.4004	0.94627	0.0:0.0:1.0:0.0	.	1466	Q09472	EP300_HUMAN	C	1466	ENSP00000263253:W1466C	ENSP00000263253:W1466C	W	+	3	0	EP300	39896467	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.760000	0.98935	2.577000	0.86979	0.655000	0.94253	TGG		0.473	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		30	50	0	0	0	0	30	50				
PKDREJ	10343	broad.mit.edu	37	22	46654890	46654890	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr22:46654890T>C	ENST00000253255.5	-	1	4329	c.4330A>G	c.(4330-4332)Ata>Gta	p.I1444V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1444					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAAAAGTTATTAATAATTGC	0.378																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(4330-4332)ATA>GTA		receptor for egg jelly-like protein precursor							69.0	67.0	68.0					22																	46654890		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654890T>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4330A>G	22.37:g.46654890T>C	ENSP00000253255:p.Ile1444Val						p.I1444V	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4330	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1444			Helical; (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4330A>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304213	0.23736	.	.	ENSG00000130943	ENST00000253255	T	0.49139	0.79	4.91	-0.305	0.12784	.	0.203980	0.32802	N	0.005621	T	0.34221	0.0890	L	0.53780	1.695	0.09310	N	1	B	0.28900	0.227	B	0.24848	0.056	T	0.14448	-1.0472	10	0.34782	T	0.22	-19.659	5.6785	0.17761	0.0:0.1599:0.2878:0.5523	.	1444	Q9NTG1	PKDRE_HUMAN	V	1444	ENSP00000253255:I1444V	ENSP00000253255:I1444V	I	-	1	0	PKDREJ	45033554	0.041000	0.20044	0.001000	0.08648	0.981000	0.71138	0.180000	0.16860	-0.005000	0.14395	0.459000	0.35465	ATA		0.378	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		17	55	0	0	0	0	17	55				
SUMF1	285362	broad.mit.edu	37	3	4494724	4494724	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:4494724T>C	ENST00000272902.5	-	2	315	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	SUMF1_ENST00000405420.2_Missense_Mutation_p.I94V|SUMF1_ENST00000383843.5_Missense_Mutation_p.I94V|SUMF1_ENST00000458465.2_Missense_Mutation_p.I94V|SUMF1_ENST00000534863.1_Missense_Mutation_p.I94V	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	94					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CCAGCAGGGATGGGGACCATC	0.488																																						uc003bpz.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(280-282)ATC>GTC		sulfatase modifying factor 1 isoform 1							64.0	51.0	56.0					3																	4494724		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4494724T>C	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.280A>G	3.37:g.4494724T>C	ENSP00000272902:p.Ile94Val					SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.I94V|SUMF1_uc010hby.1_Missense_Mutation_p.I94V|SUMF1_uc011ast.1_Missense_Mutation_p.I94V	p.I94V	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	2	305	-		Melanoma(143;0.068)|Colorectal(144;0.233)	94					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.280A>G	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783351	0.49891	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44	4.94	4.94	0.65067	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.113856	0.64402	D	0.000012	D	0.93713	0.7991	L	0.41492	1.28	0.53005	D	0.999961	P;B;P;B	0.38129	0.619;0.199;0.484;0.237	P;B;B;B	0.48952	0.596;0.135;0.268;0.213	D	0.92930	0.6363	10	0.38643	T	0.18	-7.8381	13.7471	0.62881	0.0:0.0:0.0:1.0	.	94;94;94;94	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	V	94	ENSP00000440421:I94V;ENSP00000272902:I94V;ENSP00000373355:I94V;ENSP00000410060:I94V;ENSP00000384977:I94V	ENSP00000272902:I94V	I	-	1	0	SUMF1	4469724	1.000000	0.71417	0.998000	0.56505	0.439000	0.31926	2.688000	0.46984	2.081000	0.62600	0.528000	0.53228	ATC		0.488	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		5	11	0	0	0	0	5	11				
CX3CR1	1524	broad.mit.edu	37	3	39307562	39307562	+	Missense_Mutation	SNP	C	C	T	rs3732380	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:39307562C>T	ENST00000541347.1	-	2	678	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	CX3CR1_ENST00000542107.1_Missense_Mutation_p.V147I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.V147I|CX3CR1_ENST00000358309.3_Missense_Mutation_p.V179I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	147			V -> I (in dbSNP:rs3732380).		cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTGATGGTGACGCCATGCTGC	0.527													C|||	19	0.00379393	0.0	0.0	5008	,	,		19397	0.0188		0.0	False		,,,				2504	0.0					uc003cjl.2		NA																	0				lung(3)	3						c.(439-441)GTC>ATC		chemokine (C-X3-C motif) receptor 1		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	4,4182		0,4,2089	87.0	90.0	89.0		439,439,535,439	4.9	1.0	3	dbSNP_107	89	0,8438		0,0,4219	yes	missense,missense,missense,missense	CX3CR1	NM_001171171.1,NM_001171172.1,NM_001171174.1,NM_001337.3	29,29,29,29	0,4,6308	TT,TC,CC		0.0,0.0956,0.0317	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	147/356,147/356,179/388,147/356	39307562	4,12620	2093	4219	6312	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307562C>T	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.439G>A	3.37:g.39307562C>T	ENSP00000439140:p.Val147Ile						p.V147I	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	531	-			147			Helical; Name=4; (Potential).		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.439G>A	CCDS43069.1	12	0.005494505494505495	0	0.0	0	0.0	12	0.02097902097902098	0	0.0	C	17.19	3.326017	0.60743	9.56E-4	0.0	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107;ENST00000435290	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.76	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.262527	0.37761	N	0.001949	T	0.12178	0.0296	N	0.26042	0.785	0.25352	N	0.98885	B	0.16166	0.016	B	0.16722	0.016	T	0.10314	-1.0635	10	0.29301	T	0.29	.	7.9108	0.29789	0.0:0.7616:0.0:0.2384	rs3732380;rs52790904;rs3732380	147	P49238	CX3C1_HUMAN	I	147;155;179;147;147;147	ENSP00000382166:V147I;ENSP00000351059:V179I;ENSP00000439140:V147I;ENSP00000444928:V147I;ENSP00000394960:V147I	ENSP00000351059:V179I	V	-	1	0	CX3CR1	39282566	0.000000	0.05858	0.997000	0.53966	0.928000	0.56348	0.186000	0.16978	1.442000	0.47568	0.655000	0.94253	GTC		0.527	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		4	48	0	0	0	0	4	48				
BSN	8927	broad.mit.edu	37	3	49689861	49689861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:49689861C>T	ENST00000296452.4	+	5	2986	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	958					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGTCTGGACCGGGAGCCTGA	0.622																																						uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2872-2874)CGG>TGG		bassoon protein							53.0	54.0	54.0					3																	49689861		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689861C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2872C>T	3.37:g.49689861C>T	ENSP00000296452:p.Arg958Trp						p.R958W	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	2986	+			958					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2872C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903810	0.33628	.	.	ENSG00000164061	ENST00000296452	T	0.21191	2.02	5.03	3.01	0.34805	.	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	M	0.64997	1.995	0.33702	D	0.614669	D	0.89917	1.0	D	0.81914	0.995	T	0.56739	-0.7929	10	0.87932	D	0	-16.9951	11.2061	0.48771	0.6118:0.3882:0.0:0.0	.	958	Q9UPA5	BSN_HUMAN	W	958	ENSP00000296452:R958W	ENSP00000296452:R958W	R	+	1	2	BSN	49664865	0.999000	0.42202	1.000000	0.80357	0.963000	0.63663	0.717000	0.25851	1.093000	0.41377	0.561000	0.74099	CGG		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		43	14	0	0	0	0	43	14				
DNAH1	25981	broad.mit.edu	37	3	52383302	52383302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:52383302C>G	ENST00000420323.2	+	14	2653	c.2392C>G	c.(2392-2394)Ccc>Gcc	p.P798A		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	798	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCTCGCTGCCCAGCAGCAT	0.592																																						uc011bef.1		NA																	0				large_intestine(3)	3						c.(2392-2394)CCC>GCC		dynein, axonemal, heavy chain 1							69.0	76.0	74.0					3																	52383302		2099	4231	6330	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52383302C>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2392C>G	3.37:g.52383302C>G	ENSP00000401514:p.Pro798Ala					DNAH1_uc003ddt.1_Missense_Mutation_p.P798A	p.P798A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	14	2653	+			798			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.2392C>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955919	0.92726	.	.	ENSG00000114841	ENST00000420323	T	0.25579	1.79	5.54	5.54	0.83059	.	0.000000	0.50627	D	0.000117	T	0.60117	0.2244	M	0.88031	2.925	0.58432	D	0.999999	D;D	0.89917	1.0;0.993	D;D	0.97110	1.0;0.963	T	0.64639	-0.6360	10	0.49607	T	0.09	.	19.5023	0.95100	0.0:1.0:0.0:0.0	.	798;798	C9JXH6;Q9P2D7-3	.;.	A	798	ENSP00000401514:P798A	ENSP00000401514:P798A	P	+	1	0	DNAH1	52358342	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.944000	0.75940	2.616000	0.88540	0.655000	0.94253	CCC		0.592	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		20	8	0	0	0	0	20	8				
FAM208A	23272	broad.mit.edu	37	3	56667140	56667140	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:56667140C>T	ENST00000493960.2	-	18	3689	c.3679G>A	c.(3679-3681)Gtc>Atc	p.V1227I	FAM208A_ENST00000355628.5_Missense_Mutation_p.V1166I|FAM208A_ENST00000431842.2_Missense_Mutation_p.V790I	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1227							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTTTTCTGGACGTCTTTCATG	0.328																																						uc003did.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3496-3498)GTC>ATC		retinoblastoma-associated protein 140 isoform b							62.0	66.0	65.0					3																	56667140		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56667140C>T	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3679G>A	3.37:g.56667140C>T	ENSP00000417509:p.Val1227Ile					C3orf63_uc003dib.3_Missense_Mutation_p.V285I|C3orf63_uc003dic.3_Missense_Mutation_p.V790I|C3orf63_uc003die.3_Missense_Mutation_p.V1227I	p.V1166I	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	17	3597	-			1227					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.3496G>A	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337911	0.81911	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.19394	2.15;2.35;2.32	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000009	T	0.49457	0.1558	M	0.71581	2.175	0.49798	D	0.999829	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;D;D	0.87578	0.998;0.988;0.996;0.979	T	0.45175	-0.9279	10	0.72032	D	0.01	-6.2993	20.0172	0.97481	0.0:1.0:0.0:0.0	.	1227;1166;790;1227	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	I	790;1227;1166	ENSP00000399410:V790I;ENSP00000417509:V1227I;ENSP00000347845:V1166I	ENSP00000347845:V1166I	V	-	1	0	C3orf63	56642180	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.345000	0.65987	2.814000	0.96858	0.585000	0.79938	GTC		0.328	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		30	18	0	0	0	0	30	18				
IMPG2	50939	broad.mit.edu	37	3	101038496	101038496	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:101038496A>T	ENST00000193391.7	-	2	453	c.266T>A	c.(265-267)gTg>gAg	p.V89E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	89					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GCAGATTTTCACTCCATTAGG	0.433																																						uc003duq.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(265-267)GTG>GAG		interphotoreceptor matrix proteoglycan 2							155.0	151.0	153.0					3																	101038496		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101038496A>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.266T>A	3.37:g.101038496A>T	ENSP00000193391:p.Val89Glu					IMPG2_uc011bhe.1_5'UTR	p.V89E	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			2	469	-			89			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.266T>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377100	0.82682	.	.	ENSG00000081148	ENST00000193391	D	0.82526	-1.62	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000003	D	0.90954	0.7156	M	0.79693	2.465	0.49915	D	0.999839	D	0.89917	1.0	D	0.85130	0.997	D	0.92159	0.5734	10	0.87932	D	0	-11.8121	14.0272	0.64592	1.0:0.0:0.0:0.0	.	89	Q9BZV3	IMPG2_HUMAN	E	89	ENSP00000193391:V89E	ENSP00000193391:V89E	V	-	2	0	IMPG2	102521186	1.000000	0.71417	0.963000	0.40424	0.929000	0.56500	6.648000	0.74359	2.056000	0.61249	0.460000	0.39030	GTG		0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			67	30	0	0	0	0	67	30				
CBLB	868	broad.mit.edu	37	3	105456100	105456100	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:105456100T>C	ENST00000264122.4	-	8	1307	c.986A>G	c.(985-987)tAt>tGt	p.Y329C	CBLB_ENST00000405772.1_Missense_Mutation_p.Y329C|CBLB_ENST00000394027.3_Missense_Mutation_p.Y351C|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.Y329C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	329	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGGATAAAGATAACTGAATTT	0.279			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NA		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(985-987)TAT>TGT		Cas-Br-M (murine) ecotropic retroviral							76.0	78.0	77.0					3																	105456100		2199	4278	6477	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105456100T>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.986A>G	3.37:g.105456100T>C	ENSP00000264122:p.Tyr329Cys					CBLB_uc011bhi.1_Missense_Mutation_p.Y351C|CBLB_uc003dwd.1_Missense_Mutation_p.Y329C|CBLB_uc003dwe.1_Missense_Mutation_p.Y329C|CBLB_uc011bhj.1_RNA	p.Y329C	NM_170662	NP_733762	Q13191	CBLB_HUMAN			8	1308	-			329			Cbl-PTB.|SH2-like.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.986A>G	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793958	0.70452	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.26	5.26	0.73747	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.91112	0.7202	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92393	0.5923	10	0.87932	D	0	-20.3501	15.1431	0.72626	0.0:0.0:0.0:1.0	.	351;329;329	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	C	329;351;329;329	ENSP00000264122:Y329C;ENSP00000377595:Y351C;ENSP00000384816:Y329C;ENSP00000384938:Y329C	ENSP00000264122:Y329C	Y	-	2	0	CBLB	106938790	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.646000	0.83445	2.106000	0.64143	0.477000	0.44152	TAT		0.279	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		25	15	0	0	0	0	25	15				
PLCH1	23007	broad.mit.edu	37	3	155199373	155199373	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:155199373G>T	ENST00000340059.7	-	23	4465	c.4466C>A	c.(4465-4467)cCt>cAt	p.P1489H	PLCH1_ENST00000414191.1_Missense_Mutation_p.P1451H|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1451H|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.P1451H	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1489					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGATTTGCAAGGACTAGGCAG	0.468																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(4465-4467)CCT>CAT		phospholipase C eta 1 isoform a							89.0	87.0	88.0					3																	155199373		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199373G>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4466C>A	3.37:g.155199373G>T	ENSP00000345988:p.Pro1489His					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.P1451H	p.P1489H	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4743	-			1489					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4466C>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209733	0.79240	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.26373	1.74;1.75;1.74;1.74	5.02	5.02	0.67125	.	0.306698	0.35235	N	0.003341	T	0.51295	0.1666	M	0.65498	2.005	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.972	T	0.55392	-0.8148	10	0.87932	D	0	.	18.3374	0.90293	0.0:0.0:1.0:0.0	.	1451;1489	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	H	1451;1489;1451;1451	ENSP00000417502:P1451H;ENSP00000345988:P1489H;ENSP00000335469:P1451H;ENSP00000412977:P1451H	ENSP00000335469:P1451H	P	-	2	0	PLCH1	156682067	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	9.200000	0.95010	2.311000	0.77944	0.650000	0.86243	CCT		0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		13	59	1	0	6.32e-08	7.07e-08	13	59				
SLITRK3	22865	broad.mit.edu	37	3	164906141	164906141	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:164906141C>A	ENST00000475390.1	-	2	2921	c.2478G>T	c.(2476-2478)caG>caT	p.Q826H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Q826H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	826					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGGTGTTAAGCTGGGAGCTGG	0.547										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(2476-2478)CAG>CAT		slit and trk like 3 protein precursor							106.0	106.0	106.0					3																	164906141		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906141C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2478G>T	3.37:g.164906141C>A	ENSP00000420091:p.Gln826His	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.Q826H	p.Q826H	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2922	-			826			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2478G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141623	0.21205	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.56776	0.44;0.44	5.33	3.37	0.38596	.	0.000000	0.35838	N	0.002945	T	0.52354	0.1729	N	0.19112	0.55	0.42799	D	0.993926	D	0.61697	0.99	D	0.70487	0.969	T	0.55554	-0.8123	10	0.66056	D	0.02	-14.283	7.5581	0.27835	0.0:0.7348:0.0:0.2652	.	826	O94933	SLIK3_HUMAN	H	826	ENSP00000420091:Q826H;ENSP00000241274:Q826H	ENSP00000241274:Q826H	Q	-	3	2	SLITRK3	166388835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.272000	0.43373	1.457000	0.47850	0.655000	0.94253	CAG		0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		39	73	1	0	6.03e-08	6.76e-08	39	73				
SLITRK3	22865	broad.mit.edu	37	3	164906887	164906887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:164906887C>T	ENST00000475390.1	-	2	2175	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E578K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	578	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.E578K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGATGGTTTCGATCCACTGT	0.517										HNSCC(40;0.11)																												uc003fej.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1732-1734)GAA>AAA		slit and trk like 3 protein precursor							103.0	92.0	96.0					3																	164906887		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906887C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1732G>A	3.37:g.164906887C>T	ENSP00000420091:p.Glu578Lys	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.E578K	p.E578K	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2176	-			578			LRRCT 2.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1732G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294359	0.81025	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.50813	0.73;0.73	5.7	5.7	0.88788	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.38548	N	0.001659	T	0.54481	0.1861	M	0.67569	2.06	0.80722	D	1	D	0.56968	0.978	P	0.45099	0.469	T	0.58758	-0.7580	10	0.54805	T	0.06	-11.0287	19.7967	0.96487	0.0:1.0:0.0:0.0	.	578	O94933	SLIK3_HUMAN	K	578	ENSP00000420091:E578K;ENSP00000241274:E578K	ENSP00000241274:E578K	E	-	1	0	SLITRK3	166389581	1.000000	0.71417	0.951000	0.38953	0.996000	0.88848	7.772000	0.85439	2.836000	0.97738	0.655000	0.94253	GAA		0.517	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		6	69	0	0	0	0	6	69				
MECOM	2122	broad.mit.edu	37	3	168838896	168838896	+	Silent	SNP	C	C	A	rs185054275	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:168838896C>A	ENST00000464456.1	-	6	1716	c.516G>T	c.(514-516)tcG>tcT	p.S172S	MECOM_ENST00000460814.1_Silent_p.S172S|MECOM_ENST00000392736.3_Silent_p.S172S|MECOM_ENST00000494292.1_Silent_p.S360S|MECOM_ENST00000472280.1_Silent_p.S173S|MECOM_ENST00000433243.2_Silent_p.S173S|MECOM_ENST00000264674.3_Silent_p.S237S|MECOM_ENST00000468789.1_Silent_p.S172S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGAGGCCCGACGAAGTGGCAA	0.552																																						uc003ffi.3		NA																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(514-516)TCG>TCT		MDS1 and EVI1 complex locus isoform b							183.0	164.0	171.0					3																	168838896		2203	4300	6503	SO:0001819	synonymous_variant	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168838896C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.516G>T	3.37:g.168838896C>A						MECOM_uc010hwk.1_Silent_p.S195S|MECOM_uc003ffj.3_Silent_p.S237S|MECOM_uc011bpi.1_Silent_p.S173S|MECOM_uc003ffn.3_Silent_p.S172S|MECOM_uc003ffk.2_Silent_p.S172S|MECOM_uc003ffl.2_Silent_p.S332S|MECOM_uc011bpj.1_Silent_p.S360S|MECOM_uc011bpk.1_Silent_p.S162S|MECOM_uc010hwn.2_Silent_p.S360S	p.S172S	NM_005241	NP_005232	Q03112	EVI1_HUMAN			6	785	-			172			C2H2-type 5.|Interaction with MAPK9, SMAD3 and probably SUV39H1.		Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.516G>T	CCDS54669.1																																																																																				0.552	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		19	39	1	0	5.04e-11	5.82e-11	19	39				
GABRB1	2560	broad.mit.edu	37	4	47428009	47428009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:47428009G>T	ENST00000295454.3	+	9	1691	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	GABRB1_ENST00000538619.1_Missense_Mutation_p.V397F	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	467					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTAATGTCGTCTATTGGCT	0.418																																						uc003gxh.2		NA																	0				ovary(2)	2						c.(1399-1401)GTC>TTC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						96.0	92.0	93.0					4																	47428009		2202	4299	6501	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47428009G>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1399G>T	4.37:g.47428009G>T	ENSP00000295454:p.Val467Phe					GABRB1_uc011bze.1_Missense_Mutation_p.V397F	p.V467F	NM_000812	NP_000803	P18505	GBRB1_HUMAN			9	1773	+			467			Helical; (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1399G>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202767	0.22121	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.84516	-1.86;-1.86	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.164709	0.39985	N	0.001201	D	0.88202	0.6373	L	0.42581	1.335	0.58432	D	0.999998	B;D	0.60160	0.014;0.987	B;P	0.60473	0.078;0.875	D	0.84609	0.0677	10	0.22706	T	0.39	-19.0431	19.2334	0.93849	0.0:0.0:1.0:0.0	.	397;467	F5GXV5;P18505	.;GBRB1_HUMAN	F	467;397	ENSP00000295454:V467F;ENSP00000440330:V397F	ENSP00000295454:V467F	V	+	1	0	GABRB1	47122766	1.000000	0.71417	0.998000	0.56505	0.154000	0.21943	7.637000	0.83313	2.781000	0.95711	0.650000	0.86243	GTC		0.418	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			46	27	1	0	8.05e-23	9.67e-23	46	27				
PF4V1	5197	broad.mit.edu	37	4	74719102	74719102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:74719102G>A	ENST00000226524.3	+	1	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	8					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCCAGGTCCCGCCTCACCCGC	0.652																																						uc003hhg.1		NA																	0					0						c.(22-24)CGC>CAC		platelet factor 4 variant 1							27.0	27.0	27.0					4																	74719102		2203	4298	6501	SO:0001583	missense	5197				immune response	extracellular region	chemokine activity|heparin binding	g.chr4:74719102G>A	M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.23G>A	4.37:g.74719102G>A	ENSP00000226524:p.Arg8His						p.R8H	NM_002620	NP_002611	P10720	PF4V_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	90	+	Breast(15;0.00102)		8					A1L4S0	Missense_Mutation	SNP	ENST00000226524.3	37	c.23G>A	CCDS3561.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781874	0.31502	.	.	ENSG00000109272	ENST00000226524	.	.	.	2.86	2.0	0.26442	.	34.971900	0.00166	N	0.000000	T	0.17746	0.0426	N	0.08118	0	0.09310	N	1	D	0.56287	0.975	B	0.38880	0.284	T	0.28299	-1.0048	9	0.56958	D	0.05	.	7.8167	0.29263	0.0:0.2578:0.7422:0.0	.	8	P10720	PF4V_HUMAN	H	8	.	ENSP00000226524:R8H	R	+	2	0	PF4V1	74937966	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.177000	0.16801	0.742000	0.32697	0.655000	0.94253	CGC		0.652	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252495.1			3	11	0	0	0	0	3	11				
SCLT1	132320	broad.mit.edu	37	4	130014244	130014244	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:130014244G>C	ENST00000281142.5	-	1	518	c.15C>G	c.(13-15)atC>atG	p.I5M	SCLT1_ENST00000439369.2_Missense_Mutation_p.I5M|C4orf33_ENST00000281146.5_5'Flank|SCLT1_ENST00000434680.1_Missense_Mutation_p.I5M|SCLT1_ENST00000511426.1_Missense_Mutation_p.I5M|SCLT1_ENST00000503401.1_Intron|SCLT1_ENST00000506368.1_Missense_Mutation_p.I5M|SCLT1_ENST00000503215.1_De_novo_Start_InFrame|C4orf33_ENST00000502887.1_5'Flank	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	5					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCAGAAAGTCGATTTCTGCAG	0.383																																						uc003igp.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(13-15)ATC>ATG		sodium channel associated protein 1							138.0	131.0	133.0					4																	130014244		2202	4299	6501	SO:0001583	missense	132320					centrosome		g.chr4:130014244G>C	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.15C>G	4.37:g.130014244G>C	ENSP00000281142:p.Ile5Met					C4orf33_uc010ioc.1_5'Flank|C4orf33_uc003igu.3_5'Flank|SCLT1_uc003igq.2_Missense_Mutation_p.I5M|SCLT1_uc010iob.1_Missense_Mutation_p.I5M|SCLT1_uc003igr.2_Missense_Mutation_p.I5M|SCLT1_uc003igs.2_Intron|SCLT1_uc003igt.3_Missense_Mutation_p.I5M	p.I5M	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			1	521	-			5					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.15C>G	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255174	0.22965	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000506368;ENST00000511426	T	0.50001	0.76	4.07	1.16	0.20824	.	0.865612	0.09859	N	0.746497	T	0.29817	0.0745	L	0.29908	0.895	0.26088	N	0.980998	B;B;B;B;B	0.34372	0.064;0.451;0.425;0.113;0.113	B;B;B;B;B	0.31614	0.018;0.097;0.133;0.027;0.027	T	0.16305	-1.0407	9	.	.	.	2.5638	4.5063	0.11889	0.2256:0.182:0.5924:0.0	.	5;5;5;5;5	Q96NL6-3;Q96NL6-4;D6RBA6;Q96NL6-2;Q96NL6	.;.;.;.;SCLT1_HUMAN	M	5	ENSP00000281142:I5M	.	I	-	3	3	SCLT1	130233694	0.998000	0.40836	0.938000	0.37757	0.013000	0.08279	0.708000	0.25719	0.080000	0.16959	0.555000	0.69702	ATC		0.383	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		29	15	0	0	0	0	29	15				
SLC7A11	23657	broad.mit.edu	37	4	139103507	139103507	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:139103507T>C	ENST00000280612.5	-	9	1339	c.1060A>G	c.(1060-1062)Atc>Gtc	p.I354V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	354					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ATGGAGAGGATTTCTGGAAGG	0.393																																						uc011chb.1		NA																	0				skin(1)	1						c.(1060-1062)ATC>GTC		solute carrier family 7, (cationic amino acid	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						97.0	98.0	98.0					4																	139103507		2203	4300	6503	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139103507T>C	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1060A>G	4.37:g.139103507T>C	ENSP00000280612:p.Ile354Val						p.I354V	NM_014331	NP_055146	Q9UPY5	XCT_HUMAN			9	1340	-	all_hematologic(180;0.166)		354			Cytoplasmic (Potential).		A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.1060A>G	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438676	0.43326	.	.	ENSG00000151012	ENST00000280612	D	0.89552	-2.53	5.47	5.47	0.80525	Amino acid permease domain (1);	0.050899	0.85682	D	0.000000	T	0.81361	0.4806	N	0.20445	0.575	0.38551	D	0.949462	B	0.19331	0.035	B	0.24006	0.05	T	0.77256	-0.2655	10	0.14656	T	0.56	.	15.5898	0.76517	0.0:0.0:0.0:1.0	.	354	Q9UPY5	XCT_HUMAN	V	354	ENSP00000280612:I354V	ENSP00000280612:I354V	I	-	1	0	SLC7A11	139322957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.238000	0.51352	2.078000	0.62432	0.528000	0.53228	ATC		0.393	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			16	8	0	0	0	0	16	8				
PRSS48	345062	broad.mit.edu	37	4	152212572	152212572	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:152212572G>C	ENST00000455694.2	+	5	956	c.954G>C	c.(952-954)gaG>gaC	p.E318D	PRSS48_ENST00000441586.2_Missense_Mutation_p.E175D|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	318						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GCTGGGAAGAGAATGCATGGA	0.473																																						uc011cif.1		NA																	0				large_intestine(1)	1						c.(952-954)GAG>GAC		epidermis-specific serine protease-like protein							72.0	62.0	65.0					4																	152212572		1939	4145	6084	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152212572G>C	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.954G>C	4.37:g.152212572G>C	ENSP00000401328:p.Glu318Asp					PRSS48_uc011cig.1_Missense_Mutation_p.E175D	p.E318D	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN			5	954	+			318					Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.954G>C	CCDS47145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.61|10.61	1.399489|1.399489	0.25291|0.25291	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000455694;ENST00000441586|ENST00000530477	D;D|.	0.91686|.	-2.37;-2.89|.	4.09|4.09	2.3|2.3	0.28687|0.28687	.|.	.|.	.|.	.|.	.|.	T|T	0.21307|0.21307	0.0513|0.0513	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.11235|.	0.004;0.004|.	B;B|.	0.08055|.	0.003;0.002|.	T|T	0.20538|0.20538	-1.0272|-1.0272	9|5	0.15952|.	T|.	0.53|.	.|.	4.5951|4.5951	0.12325|0.12325	0.1125:0.0:0.6688:0.2186|0.1125:0.0:0.6688:0.2186	.|.	175;318|.	Q7RTY5-3;Q7RTY5|.	.;PRS48_HUMAN|.	D|T	318;175|297	ENSP00000401328:E318D;ENSP00000401420:E175D|.	ENSP00000401420:E175D|.	E|R	+|+	3|2	2|0	PRSS48|PRSS48	152432022|152432022	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.302000|0.302000	0.27658|0.27658	0.465000|0.465000	0.22004|0.22004	0.653000|0.653000	0.30826|0.30826	0.313000|0.313000	0.20887|0.20887	GAG|AGA		0.473	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		16	6	0	0	0	0	16	6				
FSTL5	56884	broad.mit.edu	37	4	162307172	162307172	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:162307172G>A	ENST00000306100.5	-	16	2707	c.2271C>T	c.(2269-2271)taC>taT	p.Y757Y	FSTL5_ENST00000427802.2_Silent_p.Y747Y|FSTL5_ENST00000379164.4_Silent_p.Y756Y|FSTL5_ENST00000536695.1_Silent_p.Y756Y|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	757						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAACTACCGTAGATGTTAT	0.418																																						uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(2269-2271)TAC>TAT		follistatin-like 5 isoform a							101.0	96.0	98.0					4																	162307172		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162307172G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2271C>T	4.37:g.162307172G>A						FSTL5_uc003iqi.2_Silent_p.Y756Y|FSTL5_uc010iqv.2_Silent_p.Y747Y|uc010iqu.1_RNA	p.Y757Y	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2707	-	all_hematologic(180;0.24)		757					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.2271C>T	CCDS3802.1																																																																																				0.418	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		4	69	0	0	0	0	4	69				
FAT1	2195	broad.mit.edu	37	4	187524462	187524463	+	Nonsense_Mutation	DNP	CC	CC	AA	rs374604751	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:187524462_187524463CC>AA	ENST00000441802.2	-	19	11426_11427	c.11217_11218GG>TT	c.(11215-11220)gcGGga>gcTTga	p.G3740*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3740					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGTCCAGTCCCGCGCAGAGTT	0.465										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(11215-11220)GCGGGA>GCTTGA		FAT tumor suppressor 1 precursor																																				SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187524462_187524463CC>AA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11217_11218delinsAA	4.37:g.187524462_187524463delinsAA	ENSP00000406229:p.Gly3740*	HNSCC(5;0.00058)					p.G3740*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			19	11405_11406	-			3740			Extracellular (Potential).			Nonsense_Mutation	DNP	ENST00000441802.2	37	c.11217_11218GG>TT	CCDS47177.1																																																																																				0.465	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		17	8	0	0	0	0	17	8				
TRIML2	205860	broad.mit.edu	37	4	189022227	189022227	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:189022227A>G	ENST00000512729.1	-	3	687	c.313T>C	c.(313-315)Ttc>Ctc	p.F105L	TRIML2_ENST00000536972.1_Missense_Mutation_p.F155L|TRIML2_ENST00000326754.3_Missense_Mutation_p.F105L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	105					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATTTCCTGGAACATCTCCTCT	0.398																																						uc003izl.2		NA																	0				central_nervous_system(2)	2						c.(313-315)TTC>CTC		tripartite motif family-like 2							116.0	108.0	110.0					4																	189022227		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189022227A>G	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.313T>C	4.37:g.189022227A>G	ENSP00000422581:p.Phe105Leu					TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.F155L|TRIML2_uc011clf.1_Missense_Mutation_p.F155L	p.F105L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	3	349	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	105			Potential.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.313T>C	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	A	3.751	-0.051545	0.07362	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.58652	3.61;0.32;3.96	4.57	2.17	0.27698	.	1.294480	0.05511	N	0.560225	T	0.41073	0.1143	L	0.34521	1.04	0.09310	N	1	B;P;B	0.35328	0.392;0.495;0.005	B;B;B	0.28465	0.064;0.09;0.004	T	0.22417	-1.0217	10	0.20046	T	0.44	.	5.3665	0.16117	0.7474:0.0:0.2526:0.0	.	155;105;105	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	L	105;105;155	ENSP00000422581:F105L;ENSP00000317498:F105L;ENSP00000441236:F155L	ENSP00000317498:F105L	F	-	1	0	TRIML2	189259221	0.025000	0.19082	0.008000	0.14137	0.002000	0.02628	0.415000	0.21181	0.506000	0.28125	-0.256000	0.11100	TTC		0.398	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		11	15	0	0	0	0	11	15				
CDH9	1007	broad.mit.edu	37	5	26885873	26885873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:26885873G>A	ENST00000231021.4	-	11	1904	c.1732C>T	c.(1732-1734)Caa>Taa	p.Q578*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	578	Cadherin 5. {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)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGCTGCTTTGAATTGGATAA	0.458																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1732-1734)CAA>TAA		cadherin 9, type 2 preproprotein							77.0	66.0	70.0					5																	26885873		2203	4300	6503	SO:0001587	stop_gained	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885873G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1732C>T	5.37:g.26885873G>A	ENSP00000231021:p.Gln578*					CDH9_uc011cnv.1_Nonsense_Mutation_p.Q171*	p.Q578*	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	1901	-			578			Extracellular (Potential).|Cadherin 5.		Q3B7I5	Nonsense_Mutation	SNP	ENST00000231021.4	37	c.1732C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	41	8.755605	0.98941	.	.	ENSG00000113100	ENST00000231021	.	.	.	5.89	5.89	0.94794	.	0.105878	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.82	0.92092	0.0:0.0:1.0:0.0	.	.	.	.	X	578	.	.	Q	-	1	0	CDH9	26921630	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	9.820000	0.99359	2.797000	0.96272	0.563000	0.77884	CAA		0.458	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		5	24	0	0	0	0	5	24				
MAST4	375449	broad.mit.edu	37	5	66426148	66426148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:66426148G>A	ENST00000403625.2	+	15	2151	c.1856G>A	c.(1855-1857)cGg>cAg	p.R619Q	MAST4_ENST00000403666.1_Missense_Mutation_p.R430Q|MAST4_ENST00000405643.1_Missense_Mutation_p.R440Q|MAST4_ENST00000404260.3_Missense_Mutation_p.R622Q|MAST4_ENST00000261569.7_Missense_Mutation_p.R425Q	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	622	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTTGTGGAGCGGGATATCCTG	0.458																																						uc003jut.1		NA																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(1288-1290)CGG>CAG		microtubule associated serine/threonine kinase							108.0	113.0	111.0					5																	66426148		2164	4283	6447	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66426148G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1856G>A	5.37:g.66426148G>A	ENSP00000385727:p.Arg619Gln					MAST4_uc003juu.1_Missense_Mutation_p.R440Q|MAST4_uc011cra.1_Missense_Mutation_p.R413Q|MAST4_uc003juv.2_Missense_Mutation_p.R425Q|MAST4_uc003juw.2_Missense_Mutation_p.R425Q	p.R430Q	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	14	1357	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	622			Protein kinase.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.1289G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	36	5.616444	0.96649	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	L	0.53561	1.675	0.58432	D	0.999997	D;D;D;D	0.89917	0.996;1.0;1.0;0.995	D;D;D;D	0.97110	0.973;1.0;1.0;0.963	T	0.49351	-0.8949	10	0.87932	D	0	-17.7527	18.9218	0.92528	0.0:0.0:1.0:0.0	.	440;622;425;430	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	Q	622;619;430;440;440;425;425	ENSP00000385048:R622Q;ENSP00000385727:R619Q;ENSP00000384313:R430Q;ENSP00000384099:R440Q;ENSP00000261569:R425Q	ENSP00000261569:R425Q	R	+	2	0	MAST4	66461904	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.869000	0.99810	2.525000	0.85131	0.650000	0.86243	CGG		0.458	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			20	19	0	0	0	0	20	19				
RAD50	10111	broad.mit.edu	37	5	131915147	131915147	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:131915147A>G	ENST00000265335.6	+	4	891	c.504A>G	c.(502-504)gaA>gaG	p.E168E	RAD50_ENST00000378823.3_Silent_p.E29E			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	168					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTAAGTGAAGGAAAGGCTT	0.348								Homologous recombination																														uc003kxi.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(502-504)GAA>GAG	Homologous_recombination	RAD50 homolog isoform 1							99.0	106.0	104.0					5																	131915147		2203	4300	6503	SO:0001819	synonymous_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131915147A>G	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.504A>G	5.37:g.131915147A>G						RAD50_uc003kxg.1_Silent_p.E69E|RAD50_uc003kxh.2_Silent_p.E29E	p.E168E	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	891	+		all_cancers(142;0.0368)|Breast(839;0.198)	168					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	c.504A>G	CCDS34233.1																																																																																				0.348	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		44	11	0	0	0	0	44	11				
PCDHA7	56141	broad.mit.edu	37	5	140215594	140215594	+	Silent	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:140215594G>T	ENST00000525929.1	+	1	1626	c.1626G>T	c.(1624-1626)gtG>gtT	p.V542V	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V542V|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	542	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(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGGCGTGCCGCCTCTGG	0.692																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(1624-1626)GTG>GTT		protocadherin alpha 7 isoform 1 precursor							75.0	83.0	80.0					5																	140215594		2202	4297	6499	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215594G>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1626G>T	5.37:g.140215594G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.V542V	p.V542V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1626	+			542			Cadherin 5.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.1626G>T	CCDS54918.1																																																																																				0.692	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		51	67	1	0	8.72e-27	1.06e-26	51	67				
PCDHB11	56125	broad.mit.edu	37	5	140580973	140580973	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:140580973C>T	ENST00000354757.3	+	1	1626	c.1626C>T	c.(1624-1626)agC>agT	p.S542S	PCDHB11_ENST00000536699.1_Silent_p.S177S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTTTGAGCAGCGAGGCGC	0.692																																						uc003liy.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1624-1626)AGC>AGT		protocadherin beta 11 precursor							29.0	40.0	36.0					5																	140580973		2201	4297	6498	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580973C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1626C>T	5.37:g.140580973C>T						PCDHB11_uc011daj.1_Silent_p.S177S	p.S542S	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1626	+			542			Extracellular (Potential).|Cadherin 5.		B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	c.1626C>T	CCDS4253.1																																																																																				0.692	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		31	21	0	0	0	0	31	21				
FOXF2	2295	broad.mit.edu	37	6	1395022	1395022	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:1395022C>T	ENST00000259806.1	+	2	1377	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	421					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTTTCCATCCCTCAGCTAGCG	0.507																																						uc003mtm.2		NA																	0					0						c.(1261-1263)CCC>CCT		forkhead box F2							224.0	191.0	202.0					6																	1395022		2203	4300	6503	SO:0001819	synonymous_variant	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1395022C>T	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.1263C>T	6.37:g.1395022C>T						FOXF2_uc003mtn.2_Intron	p.P421P	NM_001452	NP_001443	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	2	1377	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	421					Q5TGJ1|Q9UQ85	Silent	SNP	ENST00000259806.1	37	c.1263C>T	CCDS4472.1																																																																																				0.507	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			25	45	0	0	0	0	25	45				
CCHCR1	54535	broad.mit.edu	37	6	31113227	31113227	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:31113227C>G	ENST00000376266.5	-	12	1592	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D	CCHCR1_ENST00000451521.2_Missense_Mutation_p.E543D|CCHCR1_ENST00000396268.3_Missense_Mutation_p.E579D|CCHCR1_ENST00000396263.2_Intron	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	490					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AACTTCACCTCTCCTGGCGCA	0.557																																						uc003nsr.3		NA																	0				skin(1)	1						c.(1468-1470)GAG>GAC		coiled-coil alpha-helical rod protein 1 isoform							89.0	93.0	92.0					6																	31113227		2203	4300	6503	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31113227C>G	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1470G>C	6.37:g.31113227C>G	ENSP00000365442:p.Glu490Asp					CCHCR1_uc011dne.1_Missense_Mutation_p.E490D|CCHCR1_uc003nsq.3_Missense_Mutation_p.E543D|CCHCR1_uc003nsp.3_Missense_Mutation_p.E579D|CCHCR1_uc010jsk.1_Missense_Mutation_p.E490D	p.E490D	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			12	1593	-			490					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.1470G>C	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314514	0.40996	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000440185;ENST00000451521	T;T;T	0.05925	3.37;3.37;3.37	4.56	3.69	0.42338	.	0.151864	0.41396	D	0.000882	T	0.03477	0.0100	L	0.59436	1.845	0.29213	N	0.874447	P;B;P;B;P	0.42078	0.77;0.267;0.611;0.136;0.728	B;B;B;B;B	0.43508	0.422;0.081;0.257;0.081;0.297	T	0.33240	-0.9876	10	0.35671	T	0.21	-3.3004	8.7533	0.34631	0.0:0.8912:0.0:0.1088	.	490;490;490;543;579	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	D	579;490;490;543	ENSP00000379566:E579D;ENSP00000365442:E490D;ENSP00000401039:E543D	ENSP00000365442:E490D	E	-	3	2	CCHCR1	31221206	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	1.401000	0.34589	1.025000	0.39708	0.549000	0.68633	GAG		0.557	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		6	31	0	0	0	0	6	31				
FGD2	221472	broad.mit.edu	37	6	36993640	36993640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:36993640C>T	ENST00000274963.8	+	14	1702	c.1531C>T	c.(1531-1533)Ctc>Ttc	p.L511F		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	511					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCGAGTCTGCCTCCACTGCTA	0.622																																						uc010jwp.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						c.(1531-1533)CTC>TTC		FYVE, RhoGEF and PH domain containing 2							138.0	104.0	116.0					6																	36993640		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36993640C>T	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1531C>T	6.37:g.36993640C>T	ENSP00000274963:p.Leu511Phe					FGD2_uc003ong.2_Missense_Mutation_p.L233F|FGD2_uc011dtv.1_Missense_Mutation_p.L139F|FGD2_uc003onj.1_Missense_Mutation_p.L88F	p.L511F	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN			14	1702	+			511			FYVE-type.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1531C>T	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	C	4.250	0.045439	0.08196	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.71934	-0.61	5.2	-10.4	0.00318	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	1.031130	0.07757	N	0.949439	T	0.29556	0.0737	N	0.25332	0.735	0.18873	N	0.999983	B;B	0.06786	0.0;0.001	B;B	0.12156	0.001;0.007	T	0.33111	-0.9881	10	0.45353	T	0.12	-2.1037	9.9305	0.41519	0.085:0.579:0.2422:0.0938	.	511;88	Q7Z6J4;Q7Z6J4-2	FGD2_HUMAN;.	F	511;139	ENSP00000274963:L511F	ENSP00000274963:L511F	L	+	1	0	FGD2	37101618	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.306000	0.08178	-1.667000	0.01473	-0.440000	0.05779	CTC		0.622	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		36	7	0	0	0	0	36	7				
ZNF451	26036	broad.mit.edu	37	6	56997884	56997884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:56997884C>T	ENST00000370706.4	+	6	713	c.469C>T	c.(469-471)Cga>Tga	p.R157*	RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.R157*|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.R157*|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGTTCATTCCGAAGAGGAGG	0.393																																						uc003pdm.1		NA																	0				ovary(1)|pancreas(1)	2						c.(469-471)CGA>TGA		zinc finger protein 451 isoform 1							100.0	97.0	98.0					6																	56997884		2203	4300	6503	SO:0001587	stop_gained	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56997884C>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.469C>T	6.37:g.56997884C>T	ENSP00000359740:p.Arg157*					ZNF451_uc003pdl.2_Nonsense_Mutation_p.R157*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.R157*|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.R157*	p.R157*	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		6	693	+	Lung NSC(77;0.145)		157					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Nonsense_Mutation	SNP	ENST00000370706.4	37	c.469C>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506105	0.64410	.	.	ENSG00000112200	ENST00000515290;ENST00000510483;ENST00000370706;ENST00000357489;ENST00000491832	.	.	.	5.32	5.32	0.75619	.	0.281279	0.29791	N	0.011199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5148	8.5479	0.33433	0.1537:0.7676:0.0:0.0787	.	.	.	.	X	18;129;157;157;157	.	ENSP00000350083:R157X	R	+	1	2	ZNF451	57105843	0.995000	0.38212	1.000000	0.80357	0.318000	0.28184	3.489000	0.53237	2.637000	0.89404	0.650000	0.86243	CGA		0.393	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		15	44	0	0	0	0	15	44				
SH3BGRL2	83699	broad.mit.edu	37	6	80406206	80406206	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:80406206A>T	ENST00000369838.4	+	3	415	c.236A>T	c.(235-237)tAt>tTt	p.Y79F		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamate-rich protein like 2	79						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TTCTAGGATTATGACAGTTTT	0.308																																						uc003piz.1		NA																	0					0						c.(235-237)TAT>TTT		SH3 domain binding glutamic acid-rich protein							146.0	133.0	137.0					6																	80406206		2203	4300	6503	SO:0001583	missense	83699					nucleus	SH3 domain binding	g.chr6:80406206A>T	AJ297972	CCDS4991.1	6q14.1	2014-02-19	2014-02-19		ENSG00000198478	ENSG00000198478			15567	protein-coding gene	gene with protein product		615678	"""SH3 domain binding glutamic acid-rich protein like 2"""			12095696	Standard	NM_031469		Approved		uc003piz.1	Q9UJC5	OTTHUMG00000015081	ENST00000369838.4:c.236A>T	6.37:g.80406206A>T	ENSP00000358853:p.Tyr79Phe						p.Y79F	NM_031469	NP_113657	Q9UJC5	SH3L2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0278)	3	415	+		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)	79					A8MQU2|Q2VPC2|Q5VV96|Q6NSK8|Q6P9E8|Q7Z734|Q8IWD3|Q9BPY5	Missense_Mutation	SNP	ENST00000369838.4	37	c.236A>T	CCDS4991.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919912	0.73098	.	.	ENSG00000198478	ENST00000369838	T	0.76448	-1.02	5.71	5.71	0.89125	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	M	0.67517	2.055	0.54753	D	0.999985	P	0.45634	0.863	P	0.61328	0.887	T	0.81571	-0.0872	10	0.39692	T	0.17	-5.9	13.9375	0.64034	1.0:0.0:0.0:0.0	.	79	Q9UJC5	SH3L2_HUMAN	F	79	ENSP00000358853:Y79F	ENSP00000358853:Y79F	Y	+	2	0	SH3BGRL2	80462925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.903000	0.69877	2.179000	0.69175	0.528000	0.53228	TAT		0.308	SH3BGRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041309.1			42	19	0	0	0	0	42	19				
MCHR2	84539	broad.mit.edu	37	6	100382303	100382303	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:100382303C>A	ENST00000281806.2	-	5	992	c.678G>T	c.(676-678)gaG>gaT	p.E226D	MCHR2_ENST00000369212.2_Missense_Mutation_p.E226D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTTGATACATCTCCCAAGTAT	0.308																																						uc003pqh.1		NA																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(676-678)GAG>GAT		melanin-concentrating hormone receptor 2							117.0	120.0	119.0					6																	100382303		2203	4299	6502	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382303C>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.678G>T	6.37:g.100382303C>A	ENSP00000281806:p.Glu226Asp					MCHR2_uc003pqi.1_Missense_Mutation_p.E226D	p.E226D	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	993	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	226			Cytoplasmic (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.678G>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922551	0.33908	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.37584	1.19;1.19;1.19	5.11	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.269783	0.25981	N	0.027070	T	0.08223	0.0205	N	0.25647	0.755	0.27602	N	0.948924	B	0.06786	0.001	B	0.10450	0.005	T	0.38929	-0.9638	10	0.14252	T	0.57	.	10.5164	0.44892	0.1412:0.5865:0.2723:0.0	.	226	Q969V1	MCHR2_HUMAN	D	226	ENSP00000403490:E226D;ENSP00000281806:E226D;ENSP00000358214:E226D	ENSP00000281806:E226D	E	-	3	2	MCHR2	100489024	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.350000	0.34010	0.162000	0.19483	-0.181000	0.13052	GAG		0.308	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		14	54	1	0	1.58e-08	1.79e-08	14	54				
LAMA2	3908	broad.mit.edu	37	6	129637295	129637295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:129637295G>A	ENST00000421865.2	+	27	4086	c.4037G>A	c.(4036-4038)gGa>gAa	p.G1346E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1346	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTACTTATGGAAATTTCATG	0.343																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(4036-4038)GGA>GAA		laminin alpha 2 subunit isoform a precursor							57.0	63.0	61.0					6																	129637295		2203	4298	6501	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129637295G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4037G>A	6.37:g.129637295G>A	ENSP00000400365:p.Gly1346Glu					LAMA2_uc003qbo.2_Missense_Mutation_p.G1346E	p.G1346E	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	27	4142	+			1346			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4037G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685956	0.88639	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.36520	1.25	5.65	5.65	0.86999	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57946	-0.7723	10	0.48119	T	0.1	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	1346;1346	A6NF00;P24043	.;LAMA2_HUMAN	E	1346	ENSP00000400365:G1346E	ENSP00000346769:G1346E	G	+	2	0	LAMA2	129678988	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.174000	0.94824	2.827000	0.97445	0.650000	0.86243	GGA		0.343	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			14	15	0	0	0	0	14	15				
TMEM184A	202915	broad.mit.edu	37	7	1590490	1590490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:1590490G>T	ENST00000297477.5	-	3	664	c.348C>A	c.(346-348)taC>taA	p.Y116*		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	116					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		AGTAGACGTAGTACTGGTGGT	0.642																																						uc003skv.3		NA																	0					0						c.(346-348)TAC>TAA		transmembrane protein 184A							84.0	91.0	88.0					7																	1590490		2203	4300	6503	SO:0001587	stop_gained	202915					integral to membrane		g.chr7:1590490G>T		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.348C>A	7.37:g.1590490G>T	ENSP00000297477:p.Tyr116*					TMEM184A_uc003skt.3_5'UTR|TMEM184A_uc003skw.3_5'UTR	p.Y116*	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	3	665	-		Ovarian(82;0.0253)	116					Q8TBQ6	Nonsense_Mutation	SNP	ENST00000297477.5	37	c.348C>A	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489481	0.96323	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	.	.	.	5.03	4.04	0.47022	.	0.140869	0.49305	U	0.000154	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6651	13.0217	0.58791	0.0853:0.0:0.9147:0.0	.	.	.	.	X	116	.	ENSP00000297477:Y116X	Y	-	3	2	TMEM184A	1557016	1.000000	0.71417	0.953000	0.39169	0.807000	0.45602	3.254000	0.51477	0.953000	0.37825	0.407000	0.27541	TAC		0.642	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		33	20	1	0	7.64e-26	9.22e-26	33	20				
GLCCI1	113263	broad.mit.edu	37	7	8126118	8126118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:8126118G>A	ENST00000223145.5	+	8	2151	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	532						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCTCCTGCAGGAACTGCAGGG	0.547																																						uc003srk.2		NA																	0					0						c.(1594-1596)GAA>AAA		glucocorticoid induced transcript 1							113.0	129.0	124.0					7																	8126118		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8126118G>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1594G>A	7.37:g.8126118G>A	ENSP00000223145:p.Glu532Lys						p.E532K	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2153	+		Ovarian(82;0.0608)	532					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1594G>A	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503232	0.26949	.	.	ENSG00000106415	ENST00000223145	.	.	.	5.32	4.43	0.53597	.	0.591385	0.18777	N	0.131426	T	0.53610	0.1807	L	0.36672	1.1	0.42114	D	0.991396	B	0.15930	0.015	B	0.15870	0.014	T	0.49881	-0.8892	9	0.33940	T	0.23	-17.2494	15.7756	0.78214	0.0:0.0:0.8627:0.1373	.	532	Q86VQ1	GLCI1_HUMAN	K	532	.	ENSP00000223145:E532K	E	+	1	0	GLCCI1	8092643	1.000000	0.71417	0.973000	0.42090	0.165000	0.22458	4.736000	0.62059	1.602000	0.50124	0.655000	0.94253	GAA		0.547	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		49	152	0	0	0	0	49	152				
MPP6	51678	broad.mit.edu	37	7	24705286	24705286	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:24705286G>A	ENST00000222644.5	+	7	1113	c.863G>A	c.(862-864)aGa>aAa	p.R288K	MPP6_ENST00000409761.1_Missense_Mutation_p.R176K|MPP6_ENST00000396475.2_Missense_Mutation_p.R288K			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GCATTTGTTAGAAGAGACTGG	0.413																																						uc003swx.2		NA																	0					0						c.(862-864)AGA>AAA		membrane protein, palmitoylated 6							106.0	102.0	104.0					7																	24705286		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24705286G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.863G>A	7.37:g.24705286G>A	ENSP00000222644:p.Arg288Lys					MPP6_uc003swy.2_Missense_Mutation_p.R288K|MPP6_uc010kur.2_5'Flank	p.R288K	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			8	1162	+			288					B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.863G>A	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418505	0.25552	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.16	5.16	0.70880	Src homology-3 domain (1);	0.000000	0.56097	D	0.000032	T	0.65770	0.2723	N	0.02830	-0.485	0.58432	D	0.99999	B	0.06786	0.001	B	0.09377	0.004	T	0.61559	-0.7038	10	0.17832	T	0.49	.	18.6501	0.91428	0.0:0.0:1.0:0.0	.	288	Q9NZW5	MPP6_HUMAN	K	288;176;288;288	ENSP00000222644:R288K;ENSP00000386262:R176K;ENSP00000379737:R288K;ENSP00000391020:R288K	ENSP00000222644:R288K	R	+	2	0	MPP6	24671811	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.444000	0.97578	2.392000	0.81423	0.591000	0.81541	AGA		0.413	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			23	17	0	0	0	0	23	17				
GPR141	353345	broad.mit.edu	37	7	37780320	37780320	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:37780320A>G	ENST00000447769.1	+	4	614	c.325A>G	c.(325-327)Atc>Gtc	p.I109V	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.I109V|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTATGTGGTGATCCTGGTCAC	0.483																																						uc003tfm.1		NA																	0				ovary(3)	3						c.(325-327)ATC>GTC		G protein-coupled receptor 141							128.0	114.0	119.0					7																	37780320		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780320A>G	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.325A>G	7.37:g.37780320A>G	ENSP00000390410:p.Ile109Val					uc003tfl.2_Intron	p.I109V	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	325	+			109			Helical; Name=3; (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.325A>G	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583048	0.65992	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.80566	-1.39;-1.39	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.121727	0.53938	D	0.000046	D	0.86694	0.5994	M	0.74881	2.28	0.80722	D	1	D	0.67145	0.996	D	0.63381	0.914	D	0.87690	0.2553	10	0.72032	D	0.01	-32.7888	9.5332	0.39207	0.8427:0.0:0.0:0.1573	.	109	Q7Z602	GP141_HUMAN	V	109	ENSP00000390410:I109V;ENSP00000334540:I109V	ENSP00000334540:I109V	I	+	1	0	GPR141	37746845	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.607000	0.67648	2.037000	0.60232	0.528000	0.53228	ATC		0.483	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		17	58	0	0	0	0	17	58				
MAGI2	9863	broad.mit.edu	37	7	78636417	78636417	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:78636417C>T	ENST00000354212.4	-	2	660	c.407G>A	c.(406-408)cGc>cAc	p.R136H	MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H|MAGI2-AS2_ENST00000411616.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	136	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGCACCGTGCGGAGGTAGAG	0.373																																						uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(406-408)CGC>CAC		membrane associated guanylate kinase, WW and PDZ							149.0	130.0	137.0					7																	78636417		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78636417C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.407G>A	7.37:g.78636417C>T	ENSP00000346151:p.Arg136His					MAGI2_uc003ugy.2_Missense_Mutation_p.R136H	p.R136H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			2	661	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	136			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.407G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367062	0.61513	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.41758	0.99;0.99;0.99	5.29	5.29	0.74685	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.53400	0.1794	L	0.31926	0.97	0.80722	D	1	D;D	0.89917	0.958;1.0	P;D	0.91635	0.493;0.999	T	0.42481	-0.9449	9	0.21540	T	0.41	.	17.9199	0.88963	0.0:1.0:0.0:0.0	.	136;136	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	H	136	ENSP00000405766:R136H;ENSP00000346151:R136H;ENSP00000428389:R136H	ENSP00000346151:R136H	R	-	2	0	MAGI2	78474353	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.683000	0.84093	2.470000	0.83445	0.637000	0.83480	CGC		0.373	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		63	41	0	0	0	0	63	41				
CCDC132	55610	broad.mit.edu	37	7	92979233	92979234	+	Missense_Mutation	DNP	TA	TA	GT			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:92979233_92979234TA>GT	ENST00000305866.5	+	25	2479_2480	c.2351_2352TA>GT	c.(2350-2352)gTA>gGT	p.V784G	CCDC132_ENST00000535481.1_Missense_Mutation_p.V504G|CCDC132_ENST00000541136.1_Nonstop_Mutation_p.*594V|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.V754G	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	784						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTGGATTGTAGCTGGTAAAG	0.342																																						uc003umo.2		NA																	0					0						c.(2350-2352)GTA>GGT		coiled-coil domain containing 132 isoform a																																				SO:0001583	missense	55610							g.chr7:92979233_92979234TA>GT	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	Exception_encountered	7.37:g.92979233_92979234delinsGT	ENSP00000307666:p.Val784Gly					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.V754G|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.V504G	p.V784G	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		25	2479_2480	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		784					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	DNP	ENST00000305866.5	37	c.2351_2352TA>GT	CCDS43617.1																																																																																				0.342	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		16	88	0	0	0	0	16	88				
ASB4	51666	broad.mit.edu	37	7	95157520	95157520	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:95157520G>C	ENST00000325885.5	+	3	954	c.883G>C	c.(883-885)Gtc>Ctc	p.V295L	ASB4_ENST00000428113.1_Missense_Mutation_p.V295L	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	295					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CGTGCTGAAGGTCACCTCCGT	0.572											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kij.1		NA																	0				central_nervous_system(1)	1						c.(883-885)GTC>CTC		ankyrin repeat and SOCS box-containing protein 4							87.0	62.0	70.0					7																	95157520		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95157520G>C	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.883G>C	7.37:g.95157520G>C	ENSP00000321388:p.Val295Leu		OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_uc003unx.2_Missense_Mutation_p.V295L	p.V295L	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	883	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		295					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.883G>C	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732580	0.89482	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.51071	0.72;0.72	4.94	4.94	0.65067	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	L	0.53729	1.69	0.80722	D	1	D;D	0.76494	0.972;0.999	P;D	0.76071	0.621;0.987	T	0.53648	-0.8409	10	0.12103	T	0.63	-17.4141	19.0642	0.93103	0.0:0.0:1.0:0.0	.	295;295	Q9Y574;Q14D68	ASB4_HUMAN;.	L	295	ENSP00000321388:V295L;ENSP00000397070:V295L	ENSP00000321388:V295L	V	+	1	0	ASB4	94995456	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.533000	0.73829	2.689000	0.91719	0.462000	0.41574	GTC		0.572	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		9	51	0	0	0	0	9	51				
TMEM130	222865	broad.mit.edu	37	7	98446238	98446238	+	Silent	SNP	G	G	T	rs142570247		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:98446238G>T	ENST00000416379.2	-	7	1091	c.1087C>A	c.(1087-1089)Cgg>Agg	p.R363R	TMEM130_ENST00000339375.4_Silent_p.R363R|TMEM130_ENST00000345589.4_Silent_p.R261R|TMEM130_ENST00000474857.1_5'Flank|TMEM130_ENST00000546258.1_Silent_p.R344R|TMEM130_ENST00000450876.1_Silent_p.R279R			Q8N3G9	TM130_HUMAN	transmembrane protein 130	363						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R363W(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGCATTCCGCAGGGTCATG	0.517																																						uc003upo.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(1087-1089)CGG>AGG		transmembrane protein 130 isoform a							165.0	144.0	151.0					7																	98446238		2203	4300	6503	SO:0001819	synonymous_variant	222865					Golgi membrane|integral to membrane		g.chr7:98446238G>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.1087C>A	7.37:g.98446238G>T						TMEM130_uc011kiq.1_Silent_p.R344R|TMEM130_uc011kir.1_Silent_p.R363R|TMEM130_uc003upn.2_Silent_p.R261R	p.R363R	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	1276	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		363			Cytoplasmic (Potential).		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	c.1087C>A	CCDS47650.1																																																																																				0.517	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		55	29	1	0	8.89e-47	1.09e-46	55	29				
CYP3A5	1577	broad.mit.edu	37	7	99258197	99258197	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:99258197A>G	ENST00000222982.4	-	10	1050	c.951T>C	c.(949-951)acT>acC	p.T317T	CYP3A5_ENST00000343703.5_Silent_p.T307T|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	317					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GTTCATATAAAGTGAAGGAAA	0.473																																						uc003urq.2		NA																	0					0						c.(949-951)ACT>ACC		cytochrome P450, family 3, subfamily A,	Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)						96.0	88.0	91.0					7																	99258197		2203	4300	6503	SO:0001819	synonymous_variant	1577				alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99258197A>G	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.951T>C	7.37:g.99258197A>G						ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.T137T|CYP3A5_uc003urr.2_Silent_p.T204T|CYP3A5_uc011kiy.1_Silent_p.T307T|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.T317T	NM_000777	NP_000768	P20815	CP3A5_HUMAN			10	1038	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		317					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	ENST00000222982.4	37	c.951T>C	CCDS5672.1																																																																																				0.473	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			17	105	0	0	0	0	17	105				
GIGYF1	64599	broad.mit.edu	37	7	100285665	100285665	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:100285665T>G	ENST00000275732.5	-	2	1313	c.104A>C	c.(103-105)aAg>aCg	p.K35T	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	35					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTCAGCCAGCTTGTATTTGGG	0.642																																						uc003uwg.1		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(103-105)AAG>ACG		PERQ amino acid rich, with GYF domain 1							93.0	89.0	90.0					7																	100285665		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100285665T>G	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.104A>C	7.37:g.100285665T>G	ENSP00000275732:p.Lys35Thr						p.K35T	NM_022574	NP_072096	O75420	PERQ1_HUMAN			2	1113	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		35					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.104A>C	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	24.5	4.537565	0.85917	.	.	ENSG00000146830	ENST00000275732	D	0.85013	-1.93	5.53	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.90676	0.7075	M	0.78637	2.42	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	D	0.90856	0.4735	10	0.66056	D	0.02	-30.6927	8.9564	0.35820	0.0:0.0869:0.0:0.9131	.	35	O75420	PERQ1_HUMAN	T	35	ENSP00000275732:K35T	ENSP00000275732:K35T	K	-	2	0	GIGYF1	100123601	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.767000	0.68850	2.099000	0.63709	0.460000	0.39030	AAG		0.642	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		26	95	0	0	0	0	26	95				
PIK3CG	5294	broad.mit.edu	37	7	106523581	106523581	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:106523581C>T	ENST00000359195.3	+	8	3043	c.2733C>T	c.(2731-2733)ctC>ctT	p.L911L	PIK3CG_ENST00000440650.2_Silent_p.L911L|PIK3CG_ENST00000496166.1_Silent_p.L911L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	911	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATCACTGGCTCAAAGAAAAAT	0.428																																						uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(2731-2733)CTC>CTT		phosphoinositide-3-kinase, catalytic, gamma							115.0	112.0	113.0					7																	106523581		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106523581C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2733C>T	7.37:g.106523581C>T						PIK3CG_uc003vdu.2_Silent_p.L911L|PIK3CG_uc003vdw.2_Silent_p.L911L	p.L911L	NM_002649	NP_002640	P48736	PK3CG_HUMAN			8	2818	+			911			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2733C>T	CCDS5739.1																																																																																				0.428	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			5	153	0	0	0	0	5	153				
THAP5	168451	broad.mit.edu	37	7	108205290	108205290	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:108205290G>C	ENST00000415914.3	-	3	686	c.533C>G	c.(532-534)tCt>tGt	p.S178C	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.S136C|THAP5_ENST00000438865.1_3'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	178					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTCCAAGGTAGATTCTGGTTT	0.348																																						uc003vfm.2		NA																	0					0						c.(532-534)TCT>TGT		THAP domain containing 5 isoform 1							52.0	49.0	50.0					7																	108205290		2200	4298	6498	SO:0001583	missense	168451				cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	g.chr7:108205290G>C	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.533C>G	7.37:g.108205290G>C	ENSP00000400500:p.Ser178Cys					THAP5_uc003vfl.2_Missense_Mutation_p.S136C	p.S178C	NM_001130475	NP_001123947	Q7Z6K1	THAP5_HUMAN			3	687	-			178						Missense_Mutation	SNP	ENST00000415914.3	37	c.533C>G	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	G	9.083	0.999724	0.19121	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.96940	-4.18;-2.8	4.6	3.71	0.42584	.	.	.	.	.	D	0.91081	0.7193	N	0.17082	0.46	0.34283	D	0.682426	B	0.13594	0.008	B	0.14578	0.011	D	0.88211	0.2890	8	.	.	.	.	14.0095	0.64486	0.0:0.1528:0.8472:0.0	.	178	Q7Z6K1	THAP5_HUMAN	C	178;136	ENSP00000400500:S178C;ENSP00000322440:S136C	.	S	-	2	0	THAP5	107992526	0.886000	0.30341	0.005000	0.12908	0.790000	0.44656	3.468000	0.53086	1.048000	0.40298	0.650000	0.86243	TCT		0.348	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		6	24	0	0	0	0	6	24				
SLC13A1	6561	broad.mit.edu	37	7	122808429	122808429	+	Splice_Site	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:122808429T>A	ENST00000194130.2	-	6	698	c.659A>T	c.(658-660)aAg>aTg	p.K220M	SLC13A1_ENST00000539873.1_Splice_Site_p.K156M	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTTATGTACCTTTTCCAACTC	0.254																																						uc003vkm.2		NA																	0				ovary(2)	2						c.(658-660)AAG>ATG		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						37.0	41.0	40.0					7																	122808429		2190	4279	6469	SO:0001630	splice_region_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122808429T>A		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.660+1A>T	7.37:g.122808429T>A						SLC13A1_uc010lks.2_Translation_Start_Site	p.K220M	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			6	684	-			220					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.659A>T	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	T	8.972	0.973089	0.18736	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.68479	-0.33;1.52	5.15	3.99	0.46301	.	0.622471	0.17036	N	0.189534	T	0.52041	0.1710	L	0.27053	0.805	0.37587	D	0.92002	B	0.12013	0.005	B	0.17433	0.018	T	0.50550	-0.8815	10	0.42905	T	0.14	.	9.3941	0.38392	0.1589:0.0:0.0:0.8411	.	220	Q9BZW2	S13A1_HUMAN	M	220;156	ENSP00000194130:K220M;ENSP00000441309:K156M	ENSP00000194130:K220M	K	-	2	0	SLC13A1	122595665	1.000000	0.71417	0.997000	0.53966	0.198000	0.23893	2.612000	0.46343	0.898000	0.36418	-0.457000	0.05445	AAG		0.254	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	Missense_Mutation	11	9	0	0	0	0	11	9				
MGAM	8972	broad.mit.edu	37	7	141734603	141734603	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:141734603C>A	ENST00000549489.2	+	16	2016	c.1921C>A	c.(1921-1923)Cct>Act	p.P641T	MGAM_ENST00000475668.2_Missense_Mutation_p.P641T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	641	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGGTCCATCCCTGGCGTGCT	0.507																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(1921-1923)CCT>ACT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						83.0	79.0	80.0					7																	141734603		1959	4164	6123	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141734603C>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1921C>A	7.37:g.141734603C>A	ENSP00000447378:p.Pro641Thr						p.P641T	NM_004668	NP_004659	O43451	MGA_HUMAN			16	1975	+	Melanoma(164;0.0272)		641			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.1921C>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	8.407	0.843298	0.16963	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91577	-2.87	5.38	4.48	0.54585	Glycoside hydrolase, superfamily (1);	0.118536	0.38326	N	0.001731	D	0.86764	0.6011	L	0.48174	1.505	0.40086	D	0.976199	P	0.42296	0.775	B	0.43508	0.422	D	0.84668	0.0710	10	0.02654	T	1	.	14.9043	0.70706	0.0:0.8557:0.1443:0.0	.	641	O43451	MGA_HUMAN	T	641;641;518	ENSP00000447378:P641T	ENSP00000316431:P518T	P	+	1	0	MGAM	141381072	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	3.773000	0.55333	1.446000	0.47643	0.655000	0.94253	CCT		0.507	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			23	24	1	0	3.29e-13	3.84e-13	23	24				
UBXN2B	137886	broad.mit.edu	37	8	59352288	59352288	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:59352288G>A	ENST00000399598.2	+	6	752	c.630G>A	c.(628-630)ttG>ttA	p.L210L		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	210						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						AACCTAGATTGAGGTTCAAGG	0.378																																						uc003xtl.2		NA																	0				ovary(2)	2						c.(628-630)TTG>TTA		UBX domain protein 2B							90.0	84.0	86.0					8																	59352288		1839	4077	5916	SO:0001819	synonymous_variant	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59352288G>A	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.630G>A	8.37:g.59352288G>A							p.L210L	NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN			6	752	+			210					B3KWZ3	Silent	SNP	ENST00000399598.2	37	c.630G>A	CCDS43741.1																																																																																				0.378	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		6	65	0	0	0	0	6	65				
CSPP1	79848	broad.mit.edu	37	8	68076024	68076024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:68076024C>T	ENST00000262210.5	+	21	2717	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	CSPP1_ENST00000412460.1_Missense_Mutation_p.R551C|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	931					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAATCAGCTCCGTGCAGAAGG	0.383																																						uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(2791-2793)CGT>TGT		centrosome spindle pole associated protein 1							80.0	82.0	81.0					8																	68076024		1886	4103	5989	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68076024C>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2686C>T	8.37:g.68076024C>T	ENSP00000262210:p.Arg896Cys					CSPP1_uc003xxj.2_Missense_Mutation_p.R896C|CSPP1_uc003xxk.2_Missense_Mutation_p.R551C|CSPP1_uc010lyw.2_5'Flank	p.R931C	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		23	2822	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	931			Potential.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2791C>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.505545	0.85282	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.47528	0.84;0.85;0.85	4.99	4.99	0.66335	.	0.070422	0.53938	D	0.000044	T	0.68118	0.2966	M	0.70275	2.135	0.49483	D	0.999799	D;D;D	0.89917	0.992;1.0;1.0	P;D;D	0.85130	0.748;0.997;0.997	T	0.71527	-0.4566	10	0.87932	D	0	-11.6818	16.2046	0.82114	0.0:1.0:0.0:0.0	.	551;896;931	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	C	896;931;551;551	ENSP00000262210:R896C;ENSP00000415782:R551C;ENSP00000430092:R551C	ENSP00000262210:R896C	R	+	1	0	CSPP1	68238578	0.995000	0.38212	0.995000	0.50966	0.954000	0.61252	4.179000	0.58290	2.599000	0.87857	0.586000	0.80456	CGT		0.383	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		11	27	0	0	0	0	11	27				
GDAP1	54332	broad.mit.edu	37	8	75276509	75276509	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:75276509G>A	ENST00000220822.7	+	6	1064	c.984G>A	c.(982-984)ttG>ttA	p.L328L	GDAP1_ENST00000434412.2_Silent_p.L260L|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	328	Required for mitochondrial localization.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TGGTTGGTTTGCTTGCAGGAG	0.433																																						uc003yah.2		NA																	0					0						c.(982-984)TTG>TTA		ganglioside-induced differentiation-associated							80.0	84.0	83.0					8																	75276509		2203	4300	6503	SO:0001819	synonymous_variant	54332					cytoplasm		g.chr8:75276509G>A		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.984G>A	8.37:g.75276509G>A						GDAP1_uc011lfj.1_Silent_p.L213L|GDAP1_uc003yai.2_Silent_p.L260L	p.L328L	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		6	1063	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	328					A8K957|E7FJF3|E7FJF4	Silent	SNP	ENST00000220822.7	37	c.984G>A	CCDS34911.1																																																																																				0.433	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		21	46	0	0	0	0	21	46				
ZNF572	137209	broad.mit.edu	37	8	125990080	125990080	+	Missense_Mutation	SNP	G	G	A	rs181412708	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:125990080G>A	ENST00000319286.5	+	3	1724	c.1570G>A	c.(1570-1572)Gtc>Atc	p.V524I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCATTTTCCGTCTCAAATTC	0.428										HNSCC(60;0.17)			G|||	2	0.000399361	0.0	0.0	5008	,	,		20181	0.001		0.0	False		,,,				2504	0.001					uc003yrr.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1570-1572)GTC>ATC		zinc finger protein 572		G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	48.0	55.0	52.0		1570	3.2	0.1	8		52	0,8600		0,0,4300	yes	missense	ZNF572	NM_152412.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	524/530	125990080	3,13003	2203	4300	6503	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125990080G>A	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1570G>A	8.37:g.125990080G>A	ENSP00000319305:p.Val524Ile	HNSCC(60;0.17)					p.V524I	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1725	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		524					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.1570G>A	CCDS6354.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.147	0.212663	0.09757	6.81E-4	0.0	ENSG00000180938	ENST00000319286	T	0.08370	3.1	5.0	3.17	0.36434	.	0.222121	0.23039	N	0.052627	T	0.04861	0.0131	N	0.19112	0.55	0.09310	N	0.999993	B	0.21147	0.052	B	0.13407	0.009	T	0.42155	-0.9468	10	0.21540	T	0.41	0.2118	6.8513	0.24016	0.0923:0.3451:0.5626:0.0	.	524	Q7Z3I7	ZN572_HUMAN	I	524	ENSP00000319305:V524I	ENSP00000319305:V524I	V	+	1	0	ZNF572	126059261	0.001000	0.12720	0.112000	0.21494	0.007000	0.05969	0.704000	0.25661	0.672000	0.31204	0.563000	0.77884	GTC		0.428	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		39	49	0	0	0	0	39	49				
TSTA3	7264	broad.mit.edu	37	8	144697068	144697068	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:144697068C>A	ENST00000425753.2	-	4	382	c.279G>T	c.(277-279)atG>atT	p.M93I	TSTA3_ENST00000529064.1_Missense_Mutation_p.M93I	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	93					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGTTGTCGTTCATGTGCACGT	0.607																																						uc003yza.2		NA																	0				pancreas(1)	1						c.(277-279)ATG>ATT		tissue specific transplantation antigen P35B	NADH(DB00157)						117.0	94.0	102.0					8																	144697068		2203	4300	6503	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144697068C>A	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.279G>T	8.37:g.144697068C>A	ENSP00000398803:p.Met93Ile					TSTA3_uc003yzb.2_Missense_Mutation_p.M93I|TSTA3_uc011lko.1_Missense_Mutation_p.M93I	p.M93I	NM_003313	NP_003304	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		4	315	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		93					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.279G>T	CCDS6408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.825|1.825	-0.471369|-0.471369	0.04445|0.04445	.|.	.|.	ENSG00000104522|ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817;ENST00000526290|ENST00000527006	D;D;D;D;D|.	0.92397|.	-3.03;-3.03;-3.03;-3.03;-3.03|.	5.03|5.03	4.16|4.16	0.48862|0.48862	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);|.	0.048056|.	0.85682|.	N|.	0.000000|.	T|.	0.08358|.	0.0208|.	N|N	0.00275|0.00275	-1.725|-1.725	0.24671|0.24671	N|N	0.993416|0.993416	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.15578|.	-1.0432|.	10|.	0.02654|.	T|.	1|.	-22.5442|-22.5442	14.4009|14.4009	0.67044|0.67044	0.0:0.1493:0.8507:0.0|0.0:0.1493:0.8507:0.0	.|.	93;93|.	B4DZW9;Q13630|.	.;FCL_HUMAN|.	I|L	93|126	ENSP00000435386:M93I;ENSP00000398803:M93I;ENSP00000431587:M93I;ENSP00000437012:M93I;ENSP00000433331:M93I|.	ENSP00000398803:M93I|.	M|X	-|-	3|2	0|2	TSTA3|TSTA3	144768211|144768211	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.559000|0.559000	0.35586|0.35586	2.601000|2.601000	0.46249|0.46249	1.128000|1.128000	0.42052|0.42052	-0.370000|-0.370000	0.07254|0.07254	ATG|TGA		0.607	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		21	62	1	0	5.45e-15	6.43e-15	21	62				
ZNF707	286075	broad.mit.edu	37	8	144776666	144776666	+	Missense_Mutation	SNP	G	G	A	rs534396047		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:144776666G>A	ENST00000532205.1	+	8	1981	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	ZNF707_ENST00000358656.4_Missense_Mutation_p.R361Q|ZNF707_ENST00000532158.1_Missense_Mutation_p.R361Q|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000454097.1_Missense_Mutation_p.R361Q|ZNF707_ENST00000418203.2_Missense_Mutation_p.R361Q			Q96C28	ZN707_HUMAN	zinc finger protein 707	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCTTCACGCGGCATCAGAGG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16058	0.0		0.0	False		,,,				2504	0.001					uc003yze.3		NA																	0				breast(1)	1						c.(1081-1083)CGG>CAG		zinc finger protein 707							23.0	26.0	25.0					8																	144776666		2105	4217	6322	SO:0001583	missense	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776666G>A	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.1082G>A	8.37:g.144776666G>A	ENSP00000436212:p.Arg361Gln					ZNF707_uc010mfh.2_Missense_Mutation_p.R361Q|ZNF707_uc010mfi.2_Missense_Mutation_p.R361Q|ZNF707_uc003yzf.3_Missense_Mutation_p.R361Q|ZNF707_uc003yzh.3_Missense_Mutation_p.R288Q|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank	p.R361Q	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	1397	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		361			C2H2-type 7.		A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	37	c.1082G>A	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	G	4.286	0.052269	0.08291	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	2.63	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54431	0.1858	L	0.51853	1.615	0.09310	N	1	B;D	0.69078	0.229;0.997	B;P	0.58620	0.094;0.842	T	0.42865	-0.9426	8	.	.	.	-18.5601	2.8166	0.05457	0.1596:0.0:0.5603:0.2801	.	286;361	B4DV46;Q96C28	.;ZN707_HUMAN	Q	361	ENSP00000409029:R361Q;ENSP00000351482:R361Q;ENSP00000436250:R361Q;ENSP00000436212:R361Q;ENSP00000413215:R361Q	.	R	+	2	0	ZNF707	144848654	0.000000	0.05858	0.010000	0.14722	0.193000	0.23685	-0.489000	0.06490	1.469000	0.48083	0.552000	0.68991	CGG		0.647	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		25	16	0	0	0	0	25	16				
HAUS6	54801	broad.mit.edu	37	9	19063008	19063008	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063008C>G	ENST00000380502.3	-	14	2094	c.1627G>C	c.(1627-1629)Gag>Cag	p.E543Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E407Q|SCARNA8_ENST00000515924.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	543					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.E543K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTCTCACCTCTTCTACCAGA	0.413																																						uc003znk.2		NA																	1	Substitution - Missense(1)	p.E543K(1)	ovary(1)	ovary(2)	2						c.(1627-1629)GAG>CAG		HAUS augmin-like complex, subunit 6							164.0	149.0	154.0					9																	19063008		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19063008C>G	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1627G>C	9.37:g.19063008C>G	ENSP00000369871:p.Glu543Gln					HAUS6_uc011lmz.1_Missense_Mutation_p.E263Q|HAUS6_uc003znl.1_Missense_Mutation_p.E407Q|HAUS6_uc003znm.1_Missense_Mutation_p.E298Q	p.E543Q	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			14	1880	-			543					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1627G>C	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351857	0.24512	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.46451	1.95;2.01;0.87	5.54	5.54	0.83059	.	0.101103	0.64402	N	0.000002	T	0.52517	0.1739	L	0.36672	1.1	0.37209	D	0.904728	B;B;D;B	0.89917	0.312;0.312;1.0;0.312	B;B;D;B	0.87578	0.103;0.044;0.998;0.103	T	0.47071	-0.9145	10	0.14252	T	0.57	-7.6635	16.2177	0.82239	0.0:1.0:0.0:0.0	.	508;543;407;543	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	Q	543;407;59	ENSP00000369871:E543Q;ENSP00000369865:E407Q;ENSP00000409615:E59Q	ENSP00000369865:E407Q	E	-	1	0	HAUS6	19053008	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	2.950000	0.49081	2.606000	0.88127	0.563000	0.77884	GAG		0.413	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		43	138	0	0	0	0	43	138				
HAUS6	54801	broad.mit.edu	37	9	19063029	19063029	+	Missense_Mutation	SNP	C	C	G	rs34304297		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063029C>G	ENST00000380502.3	-	14	2073	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E400Q|SCARNA8_ENST00000515924.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	536					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATCTTGCTCTTTTTGAAAT	0.388																																						uc003znk.2		NA																	0				ovary(2)	2						c.(1606-1608)GAG>CAG		HAUS augmin-like complex, subunit 6							181.0	166.0	171.0					9																	19063029		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19063029C>G	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1606G>C	9.37:g.19063029C>G	ENSP00000369871:p.Glu536Gln					HAUS6_uc011lmz.1_Missense_Mutation_p.E256Q|HAUS6_uc003znl.1_Missense_Mutation_p.E400Q|HAUS6_uc003znm.1_Missense_Mutation_p.E291Q	p.E536Q	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			14	1859	-			536					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1606G>C	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368885	0.61624	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.58210	1.61;1.6;0.35	5.6	5.6	0.85130	.	0.242975	0.43747	D	0.000525	T	0.72269	0.3439	M	0.76574	2.34	0.36738	D	0.882092	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.79108	0.943;0.929;0.992;0.943	T	0.77088	-0.2717	10	0.49607	T	0.09	-12.9608	16.3629	0.83275	0.0:1.0:0.0:0.0	.	501;536;400;536	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	Q	536;400;52	ENSP00000369871:E536Q;ENSP00000369865:E400Q;ENSP00000409615:E52Q	ENSP00000369865:E400Q	E	-	1	0	HAUS6	19053029	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	4.571000	0.60879	2.641000	0.89580	0.563000	0.77884	GAG		0.388	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		57	159	0	0	0	0	57	159				
HAUS6	54801	broad.mit.edu	37	9	19063104	19063104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063104C>T	ENST00000380502.3	-	14	1998	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	HAUS6_ENST00000380496.1_Missense_Mutation_p.D375N|SCARNA8_ENST00000515924.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	511					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTGCAACATCTGATAATGGA	0.368																																						uc003znk.2		NA																	0				ovary(2)	2						c.(1531-1533)GAT>AAT		HAUS augmin-like complex, subunit 6							115.0	105.0	109.0					9																	19063104		2203	4298	6501	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19063104C>T	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1531G>A	9.37:g.19063104C>T	ENSP00000369871:p.Asp511Asn					HAUS6_uc011lmz.1_Missense_Mutation_p.D231N|HAUS6_uc003znl.1_Missense_Mutation_p.D375N|HAUS6_uc003znm.1_Missense_Mutation_p.D266N	p.D511N	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			14	1784	-			511					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1531G>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	4.417	0.077027	0.08485	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.47528	1.91;1.91;0.84	5.69	-4.49	0.03504	.	1.386540	0.04603	N	0.398871	T	0.25568	0.0622	N	0.13043	0.29	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.15607	-1.0431	10	0.15952	T	0.53	-0.0242	6.7602	0.23536	0.2192:0.626:0.0:0.1548	.	476;511;375;511	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	N	511;375;27	ENSP00000369871:D511N;ENSP00000369865:D375N;ENSP00000409615:D27N	ENSP00000369865:D375N	D	-	1	0	HAUS6	19053104	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.412000	0.07132	-0.570000	0.06022	0.563000	0.77884	GAT		0.368	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		60	114	0	0	0	0	60	114				
UBAP2	55833	broad.mit.edu	37	9	33943473	33943473	+	Missense_Mutation	SNP	G	G	T	rs147087482		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:33943473G>T	ENST00000379238.1	-	15	1777	c.1660C>A	c.(1660-1662)Cca>Aca	p.P554T	UBAP2_ENST00000539807.1_Missense_Mutation_p.P309T|UBAP2_ENST00000379225.1_Missense_Mutation_p.P187T|UBAP2_ENST00000449054.1_Missense_Mutation_p.P554T|UBAP2_ENST00000360802.1_Missense_Mutation_p.P554T|UBAP2_ENST00000418786.2_Missense_Mutation_p.P501T|UBAP2_ENST00000379239.4_Missense_Mutation_p.P287T					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCACTGCTTGGAGCTGATCCA	0.408																																						uc003ztq.1		NA																	0				ovary(3)	3						c.(1660-1662)CCA>ACA		ubiquitin associated protein 2							89.0	86.0	87.0					9																	33943473		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33943473G>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1660C>A	9.37:g.33943473G>T	ENSP00000368540:p.Pro554Thr					UBAP2_uc011loc.1_Missense_Mutation_p.P463T|UBAP2_uc011lod.1_Missense_Mutation_p.P287T|UBAP2_uc011loe.1_Missense_Mutation_p.P309T|UBAP2_uc011lof.1_Missense_Mutation_p.P479T|UBAP2_uc011log.1_Missense_Mutation_p.P500T|UBAP2_uc003ztr.2_Missense_Mutation_p.P426T|UBAP2_uc003zts.2_Missense_Mutation_p.P187T	p.P554T	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	15	1773	-			554						Missense_Mutation	SNP	ENST00000379238.1	37	c.1660C>A	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705930	0.30232	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.24350	2.73;2.73;2.73;2.46;2.49;2.18;1.86	5.63	-1.54	0.08584	.	0.751400	0.13428	N	0.388624	T	0.10637	0.0260	N	0.20986	0.625	0.21220	N	0.999752	B;B;B;B;B;B;B;B	0.21753	0.001;0.06;0.001;0.001;0.001;0.001;0.036;0.041	B;B;B;B;B;B;B;B	0.19148	0.003;0.016;0.003;0.003;0.003;0.002;0.007;0.024	T	0.28964	-1.0027	10	0.14656	T	0.56	-2.1106	0.5714	0.00696	0.2771:0.2975:0.2199:0.2056	.	501;479;309;287;463;187;479;554	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	T	554;554;554;463;287;309;501;187	ENSP00000368540:P554T;ENSP00000416932:P554T;ENSP00000354039:P554T;ENSP00000368541:P287T;ENSP00000439329:P309T;ENSP00000404436:P501T;ENSP00000368527:P187T	ENSP00000354039:P554T	P	-	1	0	UBAP2	33933473	0.781000	0.28676	0.299000	0.25016	0.974000	0.67602	0.034000	0.13776	-0.176000	0.10707	0.655000	0.94253	CCA		0.408	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		17	67	1	0	3.71e-20	4.43e-20	17	67				
PAX5	5079	broad.mit.edu	37	9	37020768	37020768	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:37020768A>C	ENST00000358127.4	-	2	151	c.77T>G	c.(76-78)gTt>gGt	p.V26G	PAX5_ENST00000377847.2_Missense_Mutation_p.V26G|PAX5_ENST00000377852.2_Missense_Mutation_p.V26G|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Missense_Mutation_p.V26G|PAX5_ENST00000414447.1_Missense_Mutation_p.V26G|PAX5_ENST00000377853.2_Missense_Mutation_p.V26G|PAX5_ENST00000446742.1_Missense_Mutation_p.V26G|PAX5_ENST00000523241.1_Missense_Mutation_p.V26G|PAX5_ENST00000520281.1_Missense_Mutation_p.V26G|PAX5_ENST00000522003.1_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	26	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		V -> G. {ECO:0000269|PubMed:24013638}.		humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(41)|p.V26G(3)|p.V26fs*49(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ATTCACAAAAACCCCCCCAAG	0.527			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1		NA		Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	45	Unknown(41)|Substitution - Missense(3)|Insertion - Frameshift(1)	p.?(31)|p.V26G(3)|p.V26fs*49(1)	haematopoietic_and_lymphoid_tissue(44)|central_nervous_system(1)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(76-78)GTT>GGT		paired box 5							103.0	95.0	98.0					9																	37020768		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37020768A>C		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.77T>G	9.37:g.37020768A>C	ENSP00000350844:p.Val26Gly					PAX5_uc011lpw.1_Missense_Mutation_p.V26G|PAX5_uc011lpx.1_Missense_Mutation_p.V26G|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.V26G|PAX5_uc011lpz.1_Missense_Mutation_p.V26G|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.V26G|PAX5_uc010mlp.1_Missense_Mutation_p.V26G|PAX5_uc011lqc.1_Missense_Mutation_p.V26G|PAX5_uc010mlr.1_Missense_Mutation_p.V26G|PAX5_uc011lqd.1_Missense_Mutation_p.V25G|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	p.V26G	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	2	525	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	26			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.77T>G	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660881	0.88154	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D	0.99660	-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32	5.59	5.59	0.84812	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	M	0.90082	3.085	0.80722	D	1	P;D;D;D;D;D;D;D;D;D	0.89917	0.947;0.994;1.0;0.996;0.994;0.978;0.997;0.993;0.994;0.994	P;D;D;D;D;P;D;P;D;D	0.91635	0.826;0.983;0.999;0.968;0.983;0.818;0.974;0.775;0.983;0.983	D	0.97590	1.0116	10	0.87932	D	0	.	15.7627	0.78101	1.0:0.0:0.0:0.0	.	25;26;26;26;26;26;26;26;26;26	C0KTF2;C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;.;PAX5_HUMAN	G	26	ENSP00000350844:V26G;ENSP00000367084:V26G;ENSP00000367083:V26G;ENSP00000429637:V26G;ENSP00000429291:V26G;ENSP00000430773:V26G;ENSP00000404687:V26G;ENSP00000412188:V26G;ENSP00000367078:V26G	ENSP00000350844:V26G	V	-	2	0	PAX5	37010768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.310000	0.96267	2.120000	0.65058	0.533000	0.62120	GTT		0.527	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			9	73	0	0	0	0	9	73				
TRPM3	80036	broad.mit.edu	37	9	73164503	73164503	+	Missense_Mutation	SNP	C	C	A	rs139956868		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:73164503C>A	ENST00000377111.2	-	24	3869	c.3626G>T	c.(3625-3627)cGg>cTg	p.R1209L	TRPM3_ENST00000360823.2_Missense_Mutation_p.R1071L|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1213L|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1071L|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1068L|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1236L|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1081L|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1068L|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1068L|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1081L|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1058L|TRPM3_ENST00000377110.3_Missense_Mutation_p.R1209L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1234					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAGTTGAACCGATCATCCTT	0.423																																						uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(3625-3627)CGG>CTG		transient receptor potential cation channel,							190.0	146.0	161.0					9																	73164503		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73164503C>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3626G>T	9.37:g.73164503C>A	ENSP00000366315:p.Arg1209Leu					TRPM3_uc004ahu.2_Missense_Mutation_p.R1051L|TRPM3_uc004ahv.2_Missense_Mutation_p.R1011L|TRPM3_uc004ahw.2_Missense_Mutation_p.R1081L|TRPM3_uc004ahx.2_Missense_Mutation_p.R1068L|TRPM3_uc004ahy.2_Missense_Mutation_p.R1071L|TRPM3_uc004ahz.2_Missense_Mutation_p.R1058L|TRPM3_uc004aia.2_Missense_Mutation_p.R1056L|TRPM3_uc004aib.2_Missense_Mutation_p.R1046L|TRPM3_uc004aic.2_Missense_Mutation_p.R1209L	p.R1209L	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			24	3870	-			1234			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3626G>T		.	.	.	.	.	.	.	.	.	.	C	15.68	2.904763	0.52333	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	6.16	5.27	0.74061	.	0.068976	0.64402	D	0.000020	T	0.40743	0.1129	N	0.25647	0.755	0.40346	D	0.979087	B;B;D;B;B;D;B;P	0.60575	0.05;0.009;0.988;0.04;0.0;0.965;0.429;0.951	B;B;P;B;B;P;B;P	0.62740	0.123;0.023;0.906;0.044;0.003;0.761;0.123;0.6	T	0.34254	-0.9836	10	0.48119	T	0.1	-5.0689	15.5798	0.76425	0.0:0.9345:0.0:0.0655	.	1209;1209;1199;1213;1071;1068;1181;1068	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	L	1209;1209;1081;1071;1068;1213;1068;1068;1081;1071;1236	ENSP00000366315:R1209L;ENSP00000366314:R1209L;ENSP00000366310:R1081L;ENSP00000354066:R1071L;ENSP00000366309:R1068L;ENSP00000350140:R1213L;ENSP00000386127:R1068L;ENSP00000379581:R1068L;ENSP00000379587:R1081L;ENSP00000350791:R1071L;ENSP00000389542:R1236L	ENSP00000350140:R1213L	R	-	2	0	TRPM3	72354323	0.050000	0.20438	0.991000	0.47740	0.765000	0.43378	1.896000	0.39789	1.623000	0.50342	0.650000	0.86243	CGG		0.423	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		30	27	1	0	2.61e-14	3.07e-14	30	27				
OR1N2	138882	broad.mit.edu	37	9	125316085	125316085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:125316085G>A	ENST00000373688.2	+	1	695	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCATGTAAACGAGCTGATGAT	0.517																																						uc011lyx.1		NA																	0				ovary(2)|skin(2)	4						c.(637-639)GAG>AAG		olfactory receptor, family 1, subfamily N,							249.0	227.0	235.0					9																	125316085		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316085G>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.637G>A	9.37:g.125316085G>A	ENSP00000362792:p.Glu213Lys						p.E213K	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			1	637	+			213			Extracellular (Potential).		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.637G>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395492	0.25205	.	.	ENSG00000171501	ENST00000373688	T	0.00207	8.55	4.41	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.639543	0.13465	N	0.385832	T	0.00178	0.0005	L	0.48642	1.525	0.26607	N	0.972902	B	0.22414	0.069	B	0.17433	0.018	T	0.12578	-1.0542	10	0.44086	T	0.13	.	8.5464	0.33424	0.0838:0.2889:0.6272:0.0	.	213	Q8NGR9	OR1N2_HUMAN	K	213	ENSP00000362792:E213K	ENSP00000362792:E213K	E	+	1	0	OR1N2	124355906	0.000000	0.05858	0.338000	0.25549	0.322000	0.28314	0.047000	0.14056	0.474000	0.27392	-0.149000	0.13747	GAG		0.517	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			92	61	0	0	0	0	92	61				
PDCL	5082	broad.mit.edu	37	9	125585430	125585430	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:125585430C>G	ENST00000259467.4	-	3	384	c.219G>C	c.(217-219)gaG>gaC	p.E73D		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	73					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TCTGCTCTGTCTCCAACTGCT	0.537																																						uc004bmz.1		NA																	0					0						c.(217-219)GAG>GAC		phosducin-like							195.0	175.0	182.0					9																	125585430		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125585430C>G	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.219G>C	9.37:g.125585430C>G	ENSP00000259467:p.Glu73Asp					PDCL_uc004bna.2_Missense_Mutation_p.E73D	p.E73D	NM_005388	NP_005379	Q13371	PHLP_HUMAN			3	315	-			73					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.219G>C	CCDS6845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.311408|4.311408	0.81358|0.81358	.|.	.|.	ENSG00000136940|ENSG00000136940	ENST00000436632;ENST00000394285|ENST00000259467	.|T	.|0.56444	.|0.46	5.98|5.98	3.18|3.18	0.36537|0.36537	.|Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63931|0.63931	0.2553|0.2553	M|M	0.73962|0.73962	2.25|2.25	0.54753|0.54753	D|D	0.999982|0.999982	.|D;D	.|0.54601	.|0.967;0.967	.|P;P	.|0.58391	.|0.838;0.838	T|T	0.65088|0.65088	-0.6253|-0.6253	5|10	.|0.66056	.|D	.|0.02	-33.6325|-33.6325	8.1551|8.1551	0.31165|0.31165	0.0:0.7025:0.0:0.2975|0.0:0.7025:0.0:0.2975	.|.	.|73;73	.|Q4VXB6;Q13371	.|.;PHLP_HUMAN	H|D	40;62|73	.|ENSP00000259467:E73D	.|ENSP00000259467:E73D	D|E	-|-	1|3	0|2	PDCL|PDCL	124625251|124625251	0.986000|0.986000	0.35501|0.35501	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.284000|0.284000	0.18864|0.18864	0.879000|0.879000	0.35944|0.35944	0.563000|0.563000	0.77884|0.77884	GAC|GAG		0.537	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		29	124	0	0	0	0	29	124				
GAPVD1	26130	broad.mit.edu	37	9	128092450	128092450	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:128092450A>G	ENST00000495955.1	+	13	2416	c.2126A>G	c.(2125-2127)gAg>gGg	p.E709G	GAPVD1_ENST00000312123.9_Missense_Mutation_p.E688G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E709G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E709G|GAPVD1_ENST00000470056.1_Missense_Mutation_p.E709G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E709G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E688G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E709G			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	709					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCATATCAGAGACAACAAGT	0.433																																						uc010mwx.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2125-2127)GAG>GGG		GTPase activating protein and VPS9 domains 1							261.0	225.0	238.0					9																	128092450		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128092450A>G		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2126A>G	9.37:g.128092450A>G	ENSP00000419063:p.Glu709Gly					GAPVD1_uc011lzs.1_Missense_Mutation_p.E709G|GAPVD1_uc004bpp.2_Missense_Mutation_p.E709G|GAPVD1_uc004bpq.2_Missense_Mutation_p.E709G|GAPVD1_uc004bpr.2_Missense_Mutation_p.E688G|GAPVD1_uc004bps.2_Missense_Mutation_p.E709G|GAPVD1_uc010mwy.1_Missense_Mutation_p.E568G	p.E709G	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			13	2452	+			709					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2126A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.1|26.1	4.702394|4.702394	0.88924|0.88924	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	T;T;T;T;T;T;T;T;T|.	0.14766|.	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60077|0.60077	0.2241|0.2241	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.67145|.	0.989;0.981;0.989;0.989;0.989;0.996|.	D;D;D;D;D;D|.	0.75484|.	0.979;0.954;0.969;0.969;0.969;0.986|.	T|T	0.57631|0.57631	-0.7778|-0.7778	10|5	0.72032|.	D|.	0.01|.	.|.	14.2958|14.2958	0.66311|0.66311	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	709;709;709;688;709;709|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	G|G	709;709;709;709;688;709;709;709;688|572	ENSP00000419767:E709G;ENSP00000377665:E709G;ENSP00000377664:E709G;ENSP00000265956:E709G;ENSP00000377645:E688G;ENSP00000419063:E709G;ENSP00000418747:E709G;ENSP00000297933:E709G;ENSP00000309582:E688G|.	ENSP00000265956:E709G|.	E|R	+|+	2|1	0|2	GAPVD1|GAPVD1	127132271|127132271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	8.901000|8.901000	0.92560|0.92560	2.035000|2.035000	0.60131|0.60131	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.433	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			32	98	0	0	0	0	32	98				
PPP1R26	9858	broad.mit.edu	37	9	138376561	138376561	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:138376561G>A	ENST00000356818.2	+	4	754	c.205G>A	c.(205-207)Gca>Aca	p.A69T	PPP1R26_ENST00000605660.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A69T|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A69T	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	69					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TGAGCGCGCCGCACAGAGGGG	0.706																																						uc004cfr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(205-207)GCA>ACA		1A6/DRIM (down-regulated in metastasis)							23.0	28.0	26.0					9																	138376561		2201	4292	6493	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138376561G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.205G>A	9.37:g.138376561G>A	ENSP00000349274:p.Ala69Thr						p.A69T	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	754	+			69					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.205G>A	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	g	3.118	-0.181271	0.06380	.	.	ENSG00000196422	ENST00000356818;ENST00000401470	T;T	0.61510	0.1;0.1	5.22	-6.15	0.02105	.	0.818482	0.10476	N	0.670191	T	0.30070	0.0753	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.09377	0.004	T	0.37753	-0.9692	10	0.08179	T	0.78	0.1834	10.7556	0.46234	0.6756:0.2272:0.0972:0.0	.	69	Q5T8A7	PPR26_HUMAN	T	69	ENSP00000349274:A69T;ENSP00000385826:A69T	ENSP00000349274:A69T	A	+	1	0	KIAA0649	137516382	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.739000	0.04866	-1.256000	0.02478	-1.865000	0.00557	GCA		0.706	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		50	48	0	0	0	0	50	48				
CCNB3	85417	broad.mit.edu	37	X	50051787	50051787	+	Missense_Mutation	SNP	T	T	A	rs147712690	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:50051787T>A	ENST00000376042.1	+	6	916	c.618T>A	c.(616-618)ttT>ttA	p.F206L	CCNB3_ENST00000276014.7_Missense_Mutation_p.F206L|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	206					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATGATGCGTTTGTTATAGAGC	0.413																																						uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(616-618)TTT>TTA		cyclin B3 isoform 3							62.0	58.0	59.0					X																	50051787		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50051787T>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.618T>A	X.37:g.50051787T>A	ENSP00000365210:p.Phe206Leu					CCNB3_uc004doy.2_Missense_Mutation_p.F206L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.F206L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	916	+	Ovarian(276;0.236)		206					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.618T>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643267	0.29246	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.38722	1.12;1.12	3.82	3.82	0.43975	.	33.011800	0.00166	N	0.000001	T	0.43366	0.1244	L	0.46157	1.445	0.09310	N	1	P	0.51057	0.941	B	0.43728	0.429	T	0.31420	-0.9944	9	.	.	.	.	8.1002	0.30852	0.0:0.0:0.0:1.0	.	206	Q8WWL7	CCNB3_HUMAN	L	206	ENSP00000365210:F206L;ENSP00000276014:F206L	.	F	+	3	2	CCNB3	50068527	0.017000	0.18338	0.004000	0.12327	0.003000	0.03518	1.899000	0.39818	1.729000	0.51567	0.481000	0.45027	TTT		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			36	4	0	0	0	0	36	4				
NXF5	55998	broad.mit.edu	37	X	101092763	101092763	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:101092763T>A	ENST00000361708.2	-	14	1269	c.910A>T	c.(910-912)Aaa>Taa	p.K304*	NXF5_ENST00000537026.1_Nonsense_Mutation_p.K304*|NXF5_ENST00000473265.2_Nonsense_Mutation_p.K304*			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	304	NTF2; truncated.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CAGGGGTCTTTGAGAATTTTT	0.507																																						uc011mrk.1		NA																	0				central_nervous_system(1)	1						c.(910-912)AAA>TAA		nuclear RNA export factor 5							139.0	139.0	139.0					X																	101092763		2203	4300	6503	SO:0001587	stop_gained	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101092763T>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.910A>T	X.37:g.101092763T>A	ENSP00000355286:p.Lys304*					NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	p.K304*	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			14	1270	-			304			NTF2; truncated.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Nonsense_Mutation	SNP	ENST00000361708.2	37	c.910A>T		.	.	.	.	.	.	.	.	.	.	.	28.2	4.903434	0.92035	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	.	.	.	2.33	-0.422	0.12329	.	0.118844	0.56097	U	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1042	0.25354	0.0:0.0:0.4497:0.5503	.	.	.	.	X	304	.	ENSP00000263032:K304X	K	-	1	0	NXF5	100979419	1.000000	0.71417	0.001000	0.08648	0.015000	0.08874	3.405000	0.52630	-0.151000	0.11176	0.226000	0.17787	AAA		0.507	NXF5-201	KNOWN	basic	protein_coding	protein_coding				94	23	0	0	0	0	94	23				
ZMAT1	84460	broad.mit.edu	37	X	101139651	101139651	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:101139651A>T	ENST00000372782.3	-	7	795	c.748T>A	c.(748-750)Ttg>Atg	p.L250M	ZMAT1_ENST00000458570.1_Missense_Mutation_p.L79M|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L250M|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	250						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CGGGTTTCCAAAGAACTCTCT	0.443																																						uc004eim.2		NA																	0				ovary(1)	1						c.(235-237)TTG>ATG		zinc finger, matrin type 1 isoform 3							193.0	170.0	178.0					X																	101139651		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139651A>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.748T>A	X.37:g.101139651A>T	ENSP00000361868:p.Leu250Met					ZMAT1_uc011mrl.1_Missense_Mutation_p.L250M|ZMAT1_uc004ein.2_Missense_Mutation_p.L79M|ZMAT1_uc011mrm.1_Missense_Mutation_p.L79M	p.L79M	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	3733	-			79					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.235T>A	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	A	9.896	1.205590	0.22205	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.26810	2.27;2.27;1.71	4.37	-3.3	0.05003	.	1.421050	0.04699	N	0.415493	T	0.12774	0.0310	N	0.17474	0.49	0.09310	N	1	B	0.25312	0.123	B	0.20577	0.03	T	0.22871	-1.0204	10	0.14656	T	0.56	2.7449	5.642	0.17569	0.3887:0.3503:0.0:0.261	.	250	Q5H9K5	ZMAT1_HUMAN	M	250;250;79	ENSP00000361868:L250M;ENSP00000437529:L250M;ENSP00000413044:L79M	ENSP00000361868:L250M	L	-	1	2	ZMAT1	101026307	0.019000	0.18553	0.000000	0.03702	0.889000	0.51656	0.329000	0.19698	-0.733000	0.04850	0.437000	0.28790	TTG		0.443	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			39	53	0	0	0	0	39	53				
COL4A5	1287	broad.mit.edu	37	X	107865911	107865911	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:107865911G>A	ENST00000361603.2	+	33	3017	c.2773G>A	c.(2773-2775)Gat>Aat	p.D925N	COL4A5_ENST00000328300.6_Missense_Mutation_p.D925N	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	925	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTAGGTGATGATGGCTTGCA	0.413									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2773-2775)GAT>AAT		type IV collagen alpha 5 isoform 2 precursor							67.0	72.0	70.0					X																	107865911		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107865911G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2773G>A	X.37:g.107865911G>A	ENSP00000354505:p.Asp925Asn					COL4A5_uc011mso.1_Missense_Mutation_p.D925N|COL4A5_uc004eob.1_Missense_Mutation_p.D533N	p.D925N	NM_033380	NP_203699	P29400	CO4A5_HUMAN			33	2975	+			925			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.2773G>A	CCDS14543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.16|10.16	1.273374|1.273374	0.23221|0.23221	.|.	.|.	ENSG00000188153|ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186|ENST00000505728	D;D|.	0.95885|.	-3.2;-3.84|.	5.97|5.97	3.29|3.29	0.37713|0.37713	.|.	0.554792|.	0.20398|.	N|.	0.093114|.	T|T	0.42720|0.42720	0.1215|0.1215	L|L	0.27975|0.27975	0.815|0.815	0.36041|0.36041	D|D	0.840077|0.840077	B;B;B|.	0.11235|.	0.004;0.001;0.004|.	B;B;B|.	0.09377|.	0.004;0.003;0.004|.	T|T	0.40905|0.40905	-0.9538|-0.9538	10|5	0.12430|.	T|.	0.62|.	.|.	9.5376|9.5376	0.39231|0.39231	0.3111:0.0:0.6889:0.0|0.3111:0.0:0.6889:0.0	.|.	925;533;925|.	E7EVY4;Q49AM6;P29400|.	.;.;CO4A5_HUMAN|.	N|I	925|2	ENSP00000331902:D925N;ENSP00000354505:D925N|.	ENSP00000331902:D925N|.	D|M	+|+	1|3	0|0	COL4A5|COL4A5	107752567|107752567	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.806000|0.806000	0.45545|0.45545	0.879000|0.879000	0.28146|0.28146	0.269000|0.269000	0.21961|0.21961	-0.199000|-0.199000	0.12753|0.12753	GAT|ATG		0.413	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			19	40	0	0	0	0	19	40				
MTCP1	4515	broad.mit.edu	37	X	154294265	154294265	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:154294265C>T	ENST00000369476.3	-	2	600	c.21G>A	c.(19-21)ggG>ggA	p.G7G	MTCP1_ENST00000362018.2_Silent_p.G7G|CMC4_ENST00000369484.3_Intron|CMC4_ENST00000369479.1_5'Flank|MTCP1_ENST00000482244.1_Intron	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	7					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGGTGGAGCCCCCACATCCT	0.572			T	TRA@	T cell prolymphocytic leukemia																																	uc004fmz.2		NA		Dom	yes		X	Xq28	4515	T	mature T-cell proliferation 1			L	TRA@		T cell prolymphocytic leukemia		0				lung(1)	1						c.(19-21)GGG>GGA		mature T-cell proliferation 1							43.0	45.0	44.0					X																	154294265		1947	4130	6077	SO:0001819	synonymous_variant	4515				cell proliferation			g.chrX:154294265C>T		CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.21G>A	X.37:g.154294265C>T						MTCP1NB_uc004fmy.2_Intron	p.G7G	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN			2	647	-	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		7					Q5HYP2	Silent	SNP	ENST00000369476.3	37	c.21G>A	CCDS44027.1																																																																																				0.572	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025		11	16	0	0	0	0	11	16				
ADIPOR1	51094	broad.mit.edu	37	1	202920154	202920155	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:202920154_202920155insG	ENST00000340990.5	-	2	342_343	c.44_45insC	c.(43-45)gctfs	p.A15fs	ADIPOR1_ENST00000367254.3_Frame_Shift_Ins_p.A15fs|ADIPOR1_ENST00000436244.1_Frame_Shift_Ins_p.A15fs	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	15					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TACTGGCAGGAGCCCCATTCCC	0.559																																						uc001gyq.3		NA																	0					0						c.(43-45)GCTfs		adiponectin receptor 1																																				SO:0001589	frameshift_variant	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202920154_202920155insG		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.45dupC	1.37:g.202920155_202920155dupG	ENSP00000341785:p.Ala15fs					ADIPOR1_uc010pqd.1_5'Flank|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Frame_Shift_Ins_p.A15fs	p.A15fs	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		2	311_312	-			15			Cytoplasmic (Potential).		B3KMB0|Q53HS7|Q53YY6|Q9Y360	Frame_Shift_Ins	INS	ENST00000340990.5	37	c.44_45insC	CCDS1430.1																																																																																				0.559	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		10	121	NA	NA	NA	NA	10	121	---	---	---	---
ARAP1	116985	broad.mit.edu	37	11	72425238	72425238	+	Frame_Shift_Del	DEL	G	G	-	rs377222092		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:72425238delG	ENST00000393609.3	-	4	840	c.638delC	c.(637-639)ccgfs	p.P213fs	ARAP1_ENST00000393605.3_5'Flank|ARAP1_ENST00000359373.5_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000455638.2_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000334211.8_5'UTR	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	213					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGGTATCTCCGGGGGGCAGGG	0.652																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NA																	0				skin(1)	1						c.(637-639)CCGfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH							14.0	14.0	14.0					11																	72425238		1876	4096	5972	SO:0001589	frameshift_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72425238delG	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.638delC	11.37:g.72425238delG	ENSP00000377233:p.Pro213fs					ARAP1_uc001osv.2_Frame_Shift_Del_p.P213fs|ARAP1_uc001osr.2_5'Flank|ARAP1_uc001oss.2_5'UTR|ARAP1_uc009yth.2_5'UTR|ARAP1_uc010rre.1_5'UTR	p.P213fs	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			4	827	-			213					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Frame_Shift_Del	DEL	ENST00000393609.3	37	c.638delC	CCDS41687.1																																																																																				0.652	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		2	4	NA	NA	NA	NA	2	4	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22061049	22061054	+	In_Frame_Del	DEL	TAAAGT	TAAAGT	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:22061049_22061054delTAAAGT	ENST00000261201.4	-	9	1411_1416	c.1412_1417delACTTTA	c.(1411-1419)tactttatt>ttt	p.471_473YFI>F	ABCC9_ENST00000345162.2_In_Frame_Del_p.471_473YFI>F|ABCC9_ENST00000261200.4_In_Frame_Del_p.471_473YFI>F	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	471	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTTGTAGCAATAAAGTACTGAATTGG	0.364																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(1411-1419)TACTTTATT>TTT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001651	inframe_deletion	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22061049_22061054delTAAAGT	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1412_1417delACTTTA	12.37:g.22061049_22061054delTAAAGT	ENSP00000261201:p.Tyr471_Ile473delinsPhe					ABCC9_uc001rfh.2_In_Frame_Del_p.471_473YFI>F|ABCC9_uc001rfj.1_In_Frame_Del_p.471_473YFI>F	p.471_473YFI>F	NM_005691	NP_005682	O60706	ABCC9_HUMAN			9	1432_1437	-			471_473			ABC transmembrane type-1 1.|Helical; Name=9; (Potential).		O60707	In_Frame_Del	DEL	ENST00000261201.4	37	c.1412_1417delACTTTA	CCDS8694.1																																																																																				0.364	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		12	26	NA	NA	NA	NA	12	26	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49447085	49447086	+	Frame_Shift_Ins	INS	-	-	AC	rs375915416		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:49447085_49447086insAC	ENST00000301067.7	-	7	857_858	c.858_859insGT	c.(856-861)tctaagfs	p.K287fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	287	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACCAACATCTTAGAGTCATTCC	0.455																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(856-861)TCTAAGfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49447085_49447086insAC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.858_859insGT	12.37:g.49447085_49447086insAC	ENSP00000301067:p.Lys287fs	HNSCC(34;0.089)					p.S286fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			7	858_859	-			286_287			PHD-type 2.|RING-type 2; degenerate.|Cys-rich.		O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.858_859insGT	CCDS44873.1																																																																																				0.455	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			46	90	NA	NA	NA	NA	46	90	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74425155	74425155	+	Frame_Shift_Del	DEL	C	C	-	rs375977445		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:74425155delC	ENST00000361742.3	+	4	829	c.60delC	c.(58-60)tgcfs	p.C20fs	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000453268.2_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000445793.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000419208.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000435464.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000565540.1_Frame_Shift_Del_p.C20fs	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	20	LRRNT.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCGGATCATGCCCGGAGCCGT	0.617																																						uc002axd.2		NA																	0					0						c.(58-60)TGCfs		immunoglobulin superfamily containing							58.0	53.0	55.0					15																	74425155		2198	4297	6495	SO:0001589	frameshift_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425155delC		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.60delC	15.37:g.74425155delC	ENSP00000355402:p.Cys20fs					ISLR2_uc002axe.2_Frame_Shift_Del_p.C20fs|ISLR2_uc010bjg.2_Frame_Shift_Del_p.C20fs|ISLR2_uc010bjf.2_Frame_Shift_Del_p.C20fs	p.C20fs	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	829	+			20			Extracellular (Potential).|LRRNT.		A8K352|Q9P263	Frame_Shift_Del	DEL	ENST00000361742.3	37	c.60delC	CCDS10259.1																																																																																				0.617	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		18	49	NA	NA	NA	NA	18	49	---	---	---	---
SP100	6672	broad.mit.edu	37	2	231379989	231379990	+	Frame_Shift_Ins	INS	-	-	A	rs371571535		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:231379989_231379990insA	ENST00000264052.5	+	25	2629_2630	c.2274_2275insA	c.(2275-2277)aaafs	p.K759fs	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	759	Poly-Lys.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTAAAGGGGAGAAAAAAAAGAA	0.421																																						uc002vqt.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2272-2277)GAGAAAfs		nuclear antigen Sp100 isoform 2																																				SO:0001589	frameshift_variant	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231379989_231379990insA	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2282dupA	2.37:g.231379997_231379997dupA	ENSP00000264052:p.Lys759fs					SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	p.E758fs	NM_003113	NP_003104	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2415_2416	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	758_759			Poly-Lys.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Frame_Shift_Ins	INS	ENST00000264052.5	37	c.2274_2275insA	CCDS2477.1																																																																																				0.421	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		19	26	NA	NA	NA	NA	19	26	---	---	---	---
PLSCR1	5359	broad.mit.edu	37	3	146246596	146246597	+	Frame_Shift_Ins	INS	-	-	T	rs78850778|rs138630543	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:146246596_146246597insT	ENST00000342435.4	-	4	526_527	c.116_117insA	c.(115-117)tacfs	p.Y39fs	PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Frame_Shift_Ins_p.Y32fs	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	39	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GGGGCCCAGGGTAGCCACTATA	0.5																																						uc003evx.3		NA																	0				ovary(2)	2						c.(115-117)TACfs		phospholipid scramblase 1																																				SO:0001589	frameshift_variant	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146246596_146246597insT	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.117dupA	3.37:g.146246597_146246597dupT	ENSP00000345494:p.Tyr39fs					PLSCR1_uc003evy.3_Frame_Shift_Ins_p.Y32fs|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_Frame_Shift_Ins_p.Y39fs	p.Y39fs	NM_021105	NP_066928	O15162	PLS1_HUMAN			4	504_505	-			39			Cytoplasmic.		B2R8H8|B4DTE8	Frame_Shift_Ins	INS	ENST00000342435.4	37	c.116_117insA	CCDS3135.1																																																																																				0.500	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		11	65	NA	NA	NA	NA	11	65	---	---	---	---
ZNF775	285971	broad.mit.edu	37	7	150095175	150095176	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:150095175_150095176delGC	ENST00000329630.5	+	3	1713_1714	c.1606_1607delGC	c.(1606-1608)gcgfs	p.A536fs		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	536					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(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGGAGGAGGCGCGCTAGTGG	0.693																																						uc003whf.1		NA																	0					0						c.(1606-1608)GCGfs		zinc finger protein 775																																				SO:0001589	frameshift_variant	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150095175_150095176delGC	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1606_1607delGC	7.37:g.150095179_150095180delGC	ENSP00000330838:p.Ala536fs					LOC728743_uc003whg.2_5'Flank	p.A536fs	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1731_1732	+	Ovarian(565;0.183)|Melanoma(164;0.226)		536					Q8IY24	Frame_Shift_Del	DEL	ENST00000329630.5	37	c.1606_1607delGC	CCDS43678.1																																																																																				0.693	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		7	8	NA	NA	NA	NA	7	8	---	---	---	---
