#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
PLEKHG5	57449	broad.mit.edu	37	1	6534204	6534204	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:6534204C>G	ENST00000400915.3	-	8	694	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E154Q|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E223Q|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E154Q|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E233Q|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E154Q|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E231Q|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E191Q|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E154Q|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.E231Q|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E154Q|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E154Q	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	210					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)		ACCTTGCCCTCATCTCCAGGC	0.677																																						uc001ano.1		NaN																	0				liver(1)	1						c.(628-630)GAG>CAG		pleckstrin homology domain containing family G							30.0	31.0	31.0					1																	6534204		2202	4300	6502	SO:0001583	missense	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.chr1:6534204C>G	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.628G>C	1.37:g.6534204C>G	ENSP00000383706:p.Glu210Gln					PLEKHG5_uc001ann.1_Missense_Mutation_p.E191Q|PLEKHG5_uc001anq.1_Missense_Mutation_p.E231Q|PLEKHG5_uc001anp.1_Missense_Mutation_p.E231Q|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E223Q|PLEKHG5_uc001ank.1_Missense_Mutation_p.E154Q|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E154Q|PLEKHG5_uc001anl.1_Missense_Mutation_p.E154Q|PLEKHG5_uc001anm.1_Missense_Mutation_p.E154Q	p.E210Q	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)	8	729	-	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)	210					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.628G>C	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	c	23.9	4.471107	0.84533	.	.	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	0.71817	-0.56;-0.56;-0.56;-0.58;-0.44;-0.58;-0.56;-0.55;-0.6;-0.56;-0.57;-0.55	4.07	4.07	0.47477	.	0.139352	0.45867	D	0.000329	T	0.79522	0.4460	L	0.56769	1.78	0.53688	D	0.999977	D;P;D;D;D	0.67145	0.996;0.687;0.996;0.996;0.992	D;B;P;D;P	0.63703	0.917;0.432;0.765;0.917;0.828	T	0.81581	-0.0867	10	0.56958	D	0.05	-30.048	15.0237	0.71650	0.0:1.0:0.0:0.0	.	223;154;231;231;210	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	Q	231;154;154;210;231;191;154;154;223;154;60;233;154	ENSP00000366977:E231Q;ENSP00000344570:E154Q;ENSP00000383704:E154Q;ENSP00000383706:E210Q;ENSP00000366969:E231Q;ENSP00000366961:E191Q;ENSP00000366957:E154Q;ENSP00000366954:E154Q;ENSP00000441445:E223Q;ENSP00000366966:E154Q;ENSP00000439625:E233Q;ENSP00000437710:E154Q	ENSP00000344570:E154Q	E	-	1	0	PLEKHG5	6456791	0.993000	0.37304	0.995000	0.50966	0.891000	0.51852	3.139000	0.50577	2.103000	0.63969	0.500000	0.49745	GAG		0.677	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1		NM_020631		9	35	0	0	0	0.013537	0	9	35		
TARDBP	23435	broad.mit.edu	37	1	11082686	11082686	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:11082686C>G	ENST00000240185.3	+	6	1334	c.1220C>G	c.(1219-1221)tCt>tGt	p.S407C	TARDBP_ENST00000315091.3_Intron|TARDBP_ENST00000439080.2_Missense_Mutation_p.S291C	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	407	Gly-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGCATGGATTCTAAGTCTTCT	0.443																																						uc001art.2		NaN																	0				ovary(2)	2						c.(1219-1221)TCT>TGT		TAR DNA binding protein							79.0	87.0	84.0					1																	11082686		2202	4297	6499	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11082686C>G	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.1220C>G	1.37:g.11082686C>G	ENSP00000240185:p.Ser407Cys					TARDBP_uc010oap.1_Missense_Mutation_p.S291C	p.S407C	NM_007375	NP_031401	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	6	1354	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	407			Gly-rich.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.1220C>G	CCDS122.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942539	0.53079	.	.	ENSG00000120948	ENST00000240185;ENST00000439080	D;D	0.96802	-4.13;-4.13	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96430	0.8835	M	0.66939	2.045	0.80722	D	1	D;D	0.64830	0.994;0.983	P;B	0.48189	0.57;0.431	D	0.96725	0.9535	10	0.66056	D	0.02	-22.3981	19.3842	0.94550	0.0:1.0:0.0:0.0	.	291;407	B4DJ45;Q13148	.;TADBP_HUMAN	C	407;291	ENSP00000240185:S407C;ENSP00000404666:S291C	ENSP00000240185:S407C	S	+	2	0	TARDBP	11005273	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	7.171000	0.77595	2.644000	0.89710	0.655000	0.94253	TCT		0.443	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1		NM_007375		26	146	0	0	0	0.007835	0	26	146		
DNAJC16	23341	broad.mit.edu	37	1	15871058	15871058	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:15871058C>A	ENST00000375847.3	+	5	903	c.739C>A	c.(739-741)Cca>Aca	p.P247T	DNAJC16_ENST00000375838.1_Missense_Mutation_p.P247T|SCARNA21_ENST00000516057.1_RNA|DNAJC16_ENST00000375849.1_Missense_Mutation_p.P247T	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	247	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAGTCTTCTTCCAGGGAACTT	0.423																																						uc001aws.2		NaN																	0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(739-741)CCA>ACA		DnaJ (Hsp40) homolog, subfamily C, member 16							110.0	102.0	105.0					1																	15871058		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15871058C>A	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.739C>A	1.37:g.15871058C>A	ENSP00000365007:p.Pro247Thr					DNAJC16_uc001awr.1_Missense_Mutation_p.P247T|DNAJC16_uc001awt.2_5'UTR	p.P247T	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	5	859	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	247			Cytoplasmic (Potential).|Thioredoxin.		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.739C>A	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084589	0.94100	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.74315	1.03;-0.83;1.03	5.87	5.87	0.94306	Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.85762	0.5772	M	0.66939	2.045	0.43130	D	0.994864	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.85303	0.1074	10	0.56958	D	0.05	-17.197	19.1458	0.93467	0.0:1.0:0.0:0.0	.	247;247	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	T	247	ENSP00000365007:P247T;ENSP00000364998:P247T;ENSP00000365009:P247T	ENSP00000364998:P247T	P	+	1	0	DNAJC16	15743645	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.256000	0.78350	2.941000	0.99782	0.655000	0.94253	CCA		0.423	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1		NM_015291		19	89	1	0	3.7963e-18	0.00333	4.28924e-18	19	89		
DNAJC16	23341	broad.mit.edu	37	1	15890809	15890809	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:15890809C>G	ENST00000375847.3	+	11	1717	c.1553C>G	c.(1552-1554)tCt>tGt	p.S518C	DNAJC16_ENST00000375838.1_Missense_Mutation_p.S518C|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.S518C|RP4-680D5.8_ENST00000606186.1_RNA	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	518					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TACTCTGCTTCTGACTACATC	0.433																																						uc001aws.2		NaN																	0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(1552-1554)TCT>TGT		DnaJ (Hsp40) homolog, subfamily C, member 16							158.0	148.0	151.0					1																	15890809		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15890809C>G	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1553C>G	1.37:g.15890809C>G	ENSP00000365007:p.Ser518Cys					DNAJC16_uc001awr.1_Missense_Mutation_p.S518C|DNAJC16_uc001awt.2_Missense_Mutation_p.S206C|DNAJC16_uc001awu.2_RNA	p.S518C	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	11	1673	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	518			Cytoplasmic (Potential).		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.1553C>G	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081271	0.20309	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.18338	2.22;2.22;2.22	6.14	2.24	0.28232	.	0.698869	0.16049	N	0.232055	T	0.13586	0.0329	L	0.47716	1.5	0.09310	N	1	P;B	0.40875	0.731;0.429	B;B	0.38562	0.276;0.276	T	0.13656	-1.0501	10	0.39692	T	0.17	-3.1908	5.2919	0.15731	0.0:0.476:0.2583:0.2656	.	518;518	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	C	518	ENSP00000365007:S518C;ENSP00000364998:S518C;ENSP00000365009:S518C	ENSP00000364998:S518C	S	+	2	0	DNAJC16	15763396	0.027000	0.19231	0.449000	0.26957	0.382000	0.30200	1.070000	0.30653	0.180000	0.19960	-0.132000	0.14878	TCT		0.433	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1		NM_015291		28	130	0	0	0	0.004289	0	28	130		
KDM1A	23028	broad.mit.edu	37	1	23395118	23395118	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:23395118C>T	ENST00000356634.3	+	9	1343	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Silent_p.F422F|KDM1A_ENST00000542151.1_Silent_p.F422F	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	398	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|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)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AACTAGACTTCAATGTCCTCA	0.398																																						uc001bgi.2		NaN																	0				ovary(1)|lung(1)	2						c.(1192-1194)TTC>TTT		lysine-specific histone demethylase 1 isoform b							102.0	86.0	91.0					1																	23395118		2203	4300	6503	SO:0001819	synonymous_variant	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23395118C>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1194C>T	1.37:g.23395118C>T						KDM1A_uc001bgj.2_Silent_p.F422F	p.F398F	NM_015013	NP_055828	O60341	KDM1A_HUMAN			9	1343	+			398			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	c.1194C>T	CCDS30627.1																																																																																				0.398	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3		NM_015013		18	28	0	0	0	0.007413	0	18	28		
GJB3	2707	broad.mit.edu	37	1	35250591	35250591	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:35250591C>T	ENST00000373366.2	+	2	843	c.228C>T	c.(226-228)ctC>ctT	p.L76L	GJB3_ENST00000373362.3_Silent_p.L76L|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	76					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACATCCGCCTCTGGGCCCTGC	0.622																																						uc001bxx.2		NaN																	0					0						c.(226-228)CTC>CTT		connexin 31							140.0	111.0	121.0					1																	35250591		2203	4300	6503	SO:0001819	synonymous_variant	2707				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35250591C>T	BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.228C>T	1.37:g.35250591C>T						GJB3_uc001bxy.2_Silent_p.L76L|GJB3_uc001bxz.3_Silent_p.L76L|uc010ohs.1_RNA	p.L76L	NM_024009	NP_076872	O75712	CXB3_HUMAN			2	843	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	76			Helical; (Potential).		B2R790|Q2TAZ8	Silent	SNP	ENST00000373366.2	37	c.228C>T	CCDS384.1																																																																																				0.622	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1		NM_024009		12	22	0	0	0	0.010729	0	12	22		
ZMYM4	9202	broad.mit.edu	37	1	35885249	35885249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:35885249G>C	ENST00000314607.6	+	30	4698	c.4618G>C	c.(4618-4620)Gaa>Caa	p.E1540Q	ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1451Q	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1540					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCCAAATCTGAAGACTCTGA	0.423																																						uc001byt.2		NaN																	0				large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(4618-4620)GAA>CAA		zinc finger protein 262							89.0	82.0	85.0					1																	35885249		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35885249G>C	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4618G>C	1.37:g.35885249G>C	ENSP00000322915:p.Glu1540Gln					ZMYM4_uc009vuu.2_Missense_Mutation_p.E1508Q|ZMYM4_uc001byu.2_Missense_Mutation_p.E1216Q|ZMYM4_uc009vuv.2_Missense_Mutation_p.E1279Q	p.E1540Q	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			30	4698	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1540					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.4618G>C	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.90|16.90	3.248917|3.248917	0.59103|0.59103	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.26810|.	1.71;1.78|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.295679|.	0.42294|.	D|.	0.000733|.	T|.	0.69663|.	0.3136|.	L|L	0.42245|0.42245	1.32|1.32	0.39353|0.39353	D|D	0.96579|0.96579	D|.	0.53745|.	0.962|.	D|.	0.63033|.	0.91|.	T|.	0.63341|.	-0.6659|.	10|.	0.62326|.	D|.	0.03|.	-14.6776|-14.6776	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1540|.	Q5VZL5|.	ZMYM4_HUMAN|.	Q|S	1540;1451|1198	ENSP00000322915:E1540Q;ENSP00000362394:E1451Q|.	ENSP00000322915:E1540Q|.	E|X	+|+	1|2	0|2	ZMYM4|ZMYM4	35657836|35657836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.716000|6.716000	0.74702|0.74702	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.423	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3		NM_005095		12	32	0	0	0	0.001855	0	12	32		
MTF1	4520	broad.mit.edu	37	1	38304297	38304297	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:38304297C>T	ENST00000373036.4	-	4	919	c.779G>A	c.(778-780)cGg>cAg	p.R260Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	260					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R260Q(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAAGACCTACCGAAATGGCTT	0.403																																						uc001cce.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|pancreas(1)	2						c.(778-780)CGG>CAG		metal-regulatory transcription factor 1							135.0	116.0	122.0					1																	38304297		2203	4300	6503	SO:0001630	splice_region_variant	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38304297C>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.779+1G>A	1.37:g.38304297C>T						MTF1_uc009vvj.1_5'UTR	p.R260Q	NM_005955	NP_005946	Q14872	MTF1_HUMAN			4	920	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	260			C2H2-type 5.		B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.779G>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039451	0.93630	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.14391	2.51	5.07	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	N	0.11201	0.11	0.53688	D	0.999975	D	0.76494	0.999	D	0.68192	0.956	T	0.27262	-1.0079	9	.	.	.	.	18.8206	0.92096	0.0:1.0:0.0:0.0	.	260	Q14872	MTF1_HUMAN	Q	260;128	ENSP00000362127:R260Q	.	R	-	2	0	MTF1	38076884	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.922000	0.70036	2.509000	0.84616	0.563000	0.77884	CGG		0.403	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2		NM_005955	Missense_Mutation	11	62	0	0	0	0.00245	0	11	62		
CAP1	10487	broad.mit.edu	37	1	40529930	40529930	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:40529930C>G	ENST00000372797.3	+	5	887	c.326C>G	c.(325-327)tCa>tGa	p.S109*	CAP1_ENST00000340450.3_Nonsense_Mutation_p.S108*|CAP1_ENST00000372805.3_Nonsense_Mutation_p.S109*|CAP1_ENST00000372798.1_Nonsense_Mutation_p.S108*|CAP1_ENST00000372792.2_Nonsense_Mutation_p.S109*|CAP1_ENST00000372802.1_Nonsense_Mutation_p.S108*	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q13114	TRAF3_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	0					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCACCCATCTCAGAGCAGATC	0.448																																						uc001cfa.3		NaN																	0				ovary(1)	1						c.(325-327)TCA>TGA		adenylyl cyclase-associated protein							121.0	107.0	111.0					1																	40529930		1891	4104	5995	SO:0001587	stop_gained	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40529930C>G	L12168	CCDS41309.1	1p34.3	2010-07-13			ENSG00000131236	ENSG00000131236			20040	protein-coding gene	gene with protein product						1406678, 8761950	Standard	NM_006367		Approved	CAP	uc001cey.4	Q01518	OTTHUMG00000004493	ENST00000372797.3:c.326C>G	1.37:g.40529930C>G	ENSP00000361883:p.Ser109*					CAP1_uc001cey.3_Nonsense_Mutation_p.S109*|CAP1_uc001cez.3_Nonsense_Mutation_p.S109*|CAP1_uc009vvz.2_Nonsense_Mutation_p.S109*|CAP1_uc010oje.1_Intron	p.S109*	NM_006367	NP_006358	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		5	555	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	109					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Nonsense_Mutation	SNP	ENST00000372797.3	37	c.326C>G	CCDS41309.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967047	0.92855	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000449311;ENST00000421589;ENST00000414281;ENST00000420216;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000435719;ENST00000427843;ENST00000424977;ENST00000417287	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.0081	18.3615	0.90376	0.0:1.0:0.0:0.0	.	.	.	.	X	109;108;109;109;109;109;109;86;108;108;109;108;109;109;109	.	ENSP00000344832:S108X	S	+	2	0	CAP1	40302517	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	6.039000	0.70972	2.579000	0.87056	0.650000	0.86243	TCA		0.448	CAP1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000013109.1		NM_006367		21	66	0	0	0	0.003954	0	21	66		
TSPAN1	10103	broad.mit.edu	37	1	46651197	46651197	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:46651197C>G	ENST00000372003.1	+	9	1182	c.718C>G	c.(718-720)Cta>Gta	p.L240V		NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	240					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				GTACTGCAATCTACAATAAGT	0.542																																						uc001cpd.2		NaN																	0				ovary(1)	1						c.(718-720)CTA>GTA		tetraspan 1							200.0	163.0	176.0					1																	46651197		2203	4300	6503	SO:0001583	missense	10103					integral to membrane|lysosomal membrane		g.chr1:46651197C>G	BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.718C>G	1.37:g.46651197C>G	ENSP00000361072:p.Leu240Val					TSPAN1_uc009vyd.1_Missense_Mutation_p.L240V	p.L240V	NM_005727	NP_005718	O60635	TSN1_HUMAN			9	1182	+	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)	240			Cytoplasmic (Potential).		D3DQ14|O60745|Q5VST0	Missense_Mutation	SNP	ENST00000372003.1	37	c.718C>G	CCDS530.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867875	0.32977	.	.	ENSG00000117472	ENST00000372003	T	0.37411	1.2	5.36	-0.447	0.12234	.	.	.	.	.	T	0.30978	0.0782	L	0.61387	1.9	0.48395	D	0.999649	B	0.33919	0.432	B	0.37047	0.24	T	0.05241	-1.0897	9	0.30078	T	0.28	.	5.2614	0.15576	0.3993:0.4621:0.0:0.1386	.	240	O60635	TSN1_HUMAN	V	240	ENSP00000361072:L240V	ENSP00000361072:L240V	L	+	1	2	TSPAN1	46423784	0.000000	0.05858	0.587000	0.28692	0.648000	0.38561	-0.152000	0.10159	-0.364000	0.08088	0.462000	0.41574	CTA		0.542	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020135.1		NM_005727		46	236	0	0	0	0.01441	0	46	236		
CC2D1B	200014	broad.mit.edu	37	1	52824767	52824767	+	Missense_Mutation	SNP	C	C	G	rs144724390	byFrequency	TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:52824767C>G	ENST00000371586.2	-	11	1327	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.E397Q	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	397						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						ATGCCCGCCTCGCGGTACTTG	0.632																																						uc001ctq.1		NaN																	0				ovary(2)	2						c.(1189-1191)GAG>CAG		coiled-coil and C2 domain containing 1B							32.0	32.0	32.0					1																	52824767		2201	4296	6497	SO:0001583	missense	200014							g.chr1:52824767C>G	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1189G>C	1.37:g.52824767C>G	ENSP00000360642:p.Glu397Gln					CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Missense_Mutation_p.E88Q	p.E397Q	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			11	1327	-			397					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.1189G>C	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	9.880	1.201385	0.22121	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.29917	1.55;1.55	4.69	4.69	0.59074	Domain of unknown function DM14 (1);	0.289988	0.33110	N	0.005268	T	0.28896	0.0717	M	0.61703	1.905	0.80722	D	1	P;P	0.48016	0.841;0.904	B;P	0.45099	0.24;0.469	T	0.05616	-1.0874	10	0.14656	T	0.56	-20.4741	5.8983	0.18951	0.1919:0.7129:0.0:0.0952	.	183;397	Q5T0G1;Q5T0F9	.;C2D1B_HUMAN	Q	397;397;311	ENSP00000360642:E397Q;ENSP00000284376:E397Q	ENSP00000284376:E397Q	E	-	1	0	CC2D1B	52597355	0.731000	0.28111	0.899000	0.35326	0.063000	0.16089	1.301000	0.33447	2.434000	0.82447	0.561000	0.74099	GAG		0.632	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1		NM_032449		8	37	0	0	0	0.006214	0	8	37		
CC2D1B	200014	broad.mit.edu	37	1	52825538	52825538	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:52825538C>G	ENST00000371586.2	-	8	919	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_Intron|CC2D1B_ENST00000284376.3_Missense_Mutation_p.E261Q	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	261	Pro-rich.					nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						AGGCTGGTCTCAGGTTGGGAG	0.572																																						uc001ctq.1		NaN																	0				ovary(2)	2						c.(781-783)GAG>CAG		coiled-coil and C2 domain containing 1B							29.0	30.0	30.0					1																	52825538		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52825538C>G	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.781G>C	1.37:g.52825538C>G	ENSP00000360642:p.Glu261Gln					CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_5'UTR	p.E261Q	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			8	919	-			261			Pro-rich.		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.781G>C	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846491	0.32606	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.26957	1.7;1.7	5.13	2.21	0.28008	.	0.818506	0.10909	N	0.620825	T	0.21062	0.0507	L	0.52759	1.655	0.46927	D	0.999251	P	0.37781	0.608	B	0.34722	0.188	T	0.04946	-1.0916	10	0.33940	T	0.23	-13.0245	7.1094	0.25382	0.0:0.6461:0.0:0.3539	.	261	Q5T0F9	C2D1B_HUMAN	Q	261;261;175	ENSP00000360642:E261Q;ENSP00000284376:E261Q	ENSP00000284376:E261Q	E	-	1	0	CC2D1B	52598126	0.207000	0.23482	0.639000	0.29394	0.956000	0.61745	0.325000	0.19628	0.748000	0.32831	0.655000	0.94253	GAG		0.572	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1		NM_032449		3	19	0	0	0	0.009096	0	3	19		
AK4	205	broad.mit.edu	37	1	65684501	65684501	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:65684501C>G	ENST00000327299.7	+	3	535	c.330C>G	c.(328-330)atC>atG	p.I110M	AK4_ENST00000546702.1_Missense_Mutation_p.I58M|AK4_ENST00000395334.2_Missense_Mutation_p.I110M|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000545314.1_Missense_Mutation_p.I110M	NM_013410.3	NP_037542.1			adenylate kinase 4											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						ATCTAGTGATCAGTTTGAATA	0.433																																						uc001dby.2		NaN																	0					0						c.(328-330)ATC>ATG		adenylate kinase 3-like 1 isoform 7							66.0	66.0	66.0					1																	65684501		2203	4297	6500	SO:0001583	missense	205					mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding	g.chr1:65684501C>G	AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"""Adenylate kinases"""	363	protein-coding gene	gene with protein product		103030	"""adenylate kinase 3"", ""adenylate kinase 3-like 1"""	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.330C>G	1.37:g.65684501C>G	ENSP00000322175:p.Ile110Met					AK3L1_uc009wan.2_Missense_Mutation_p.I58M|AK3L1_uc001dbz.2_Missense_Mutation_p.I110M|AK3L1_uc001dca.2_Missense_Mutation_p.I110M	p.I110M	NM_203464	NP_982289	P27144	KAD4_HUMAN			4	577	+			110						Missense_Mutation	SNP	ENST00000327299.7	37	c.330C>G	CCDS629.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547548	0.45383	.	.	ENSG00000162433	ENST00000545314;ENST00000546702;ENST00000395334;ENST00000327299	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.78	3.87	0.44632	.	0.189984	0.56097	D	0.000034	D	0.85252	0.5654	M	0.83223	2.63	0.58432	D	0.999997	D	0.71674	0.998	D	0.74023	0.982	D	0.85982	0.1483	10	0.52906	T	0.07	-15.4376	8.9903	0.36019	0.1471:0.774:0.0:0.0789	.	110	P27144	KAD4_HUMAN	M	110;58;110;110	ENSP00000445912:I110M;ENSP00000448458:I58M;ENSP00000378743:I110M;ENSP00000322175:I110M	ENSP00000322175:I110M	I	+	3	3	AK4	65457089	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	1.107000	0.31110	1.389000	0.46526	-0.140000	0.14226	ATC		0.433	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025040.2		NM_013410		5	47	0	0	0	0.004482	0	5	47		
ERICH3	127254	broad.mit.edu	37	1	75065450	75065450	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:75065450G>A	ENST00000326665.5	-	11	1873	c.1655C>T	c.(1654-1656)cCa>cTa	p.P552L	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.P355L	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		552	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACGGGCATCTGGTGCCTTCTG	0.408																																						uc001dgg.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1654-1656)CCA>CTA		hypothetical protein LOC127254							279.0	253.0	262.0					1																	75065450		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75065450G>A																												ENST00000326665.5:c.1655C>T	1.37:g.75065450G>A	ENSP00000322609:p.Pro552Leu					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.P346L	p.P552L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			11	1874	-			552			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1655C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.896332	0.00522	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.15834	2.84;2.39	5.96	2.89	0.33648	.	.	.	.	.	T	0.03608	0.0103	L	0.29908	0.895	0.09310	N	1	B;B	0.18461	0.004;0.028	B;B	0.16722	0.006;0.016	T	0.43491	-0.9388	9	0.19147	T	0.46	0.5063	7.5585	0.27837	0.2605:0.1323:0.6072:0.0	.	355;552	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	L	552;355	ENSP00000322609:P552L;ENSP00000398581:P355L	ENSP00000322609:P552L	P	-	2	0	C1orf173	74838038	0.296000	0.24398	0.592000	0.28758	0.002000	0.02628	0.206000	0.17375	0.858000	0.35431	0.650000	0.86243	CCA		0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1				43	102	0	0	0	0.009718	0	43	102		
ZZZ3	26009	broad.mit.edu	37	1	78034131	78034131	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:78034131G>C	ENST00000370801.3	-	13	2827	c.2352C>G	c.(2350-2352)atC>atG	p.I784M	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.I290M	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	784					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCCTATACATGATAGGAATAC	0.269																																						uc001dhq.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(2350-2352)ATC>ATG		zinc finger, ZZ-type containing 3							46.0	48.0	47.0					1																	78034131		2202	4297	6499	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78034131G>C	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2352C>G	1.37:g.78034131G>C	ENSP00000359837:p.Ile784Met					ZZZ3_uc001dhr.2_Missense_Mutation_p.I290M|ZZZ3_uc001dhp.2_Missense_Mutation_p.I783M	p.I784M	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			13	2828	-			784					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2352C>G	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	8.748	0.920544	0.17982	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.51	-8.27	0.01017	.	0.208500	0.49305	D	0.000158	T	0.06690	0.0171	N	0.16478	0.41	0.22081	N	0.999379	B;B;B	0.11235	0.0;0.001;0.004	B;B;B	0.14023	0.003;0.003;0.01	T	0.22452	-1.0216	9	0.31617	T	0.26	.	7.9063	0.29763	0.5563:0.0:0.2171:0.2266	.	290;784;783	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	M	784;290	.	ENSP00000359834:I290M	I	-	3	3	ZZZ3	77806719	0.008000	0.16893	0.321000	0.25320	0.886000	0.51366	-0.326000	0.07965	-1.241000	0.02526	-0.780000	0.03373	ATC		0.269	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1		NM_015534		12	11	0	0	0	0.010729	0	12	11		
USP33	23032	broad.mit.edu	37	1	78187599	78187599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:78187599G>A	ENST00000370793.1	-	15	2013	c.1667C>T	c.(1666-1668)tCa>tTa	p.S556L	USP33_ENST00000370792.3_Intron|USP33_ENST00000370794.3_Missense_Mutation_p.S525L|USP33_ENST00000357428.1_Missense_Mutation_p.S556L	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	556	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AGGGACACATGAGACAACAAA	0.373																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NaN																	0				lung(2)|ovary(1)	3						c.(1666-1668)TCA>TTA		ubiquitin specific protease 33 isoform 1							54.0	54.0	54.0					1																	78187599		2202	4300	6502	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78187599G>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1667C>T	1.37:g.78187599G>A	ENSP00000359829:p.Ser556Leu					USP33_uc001dhs.2_Missense_Mutation_p.S277L|USP33_uc001dhu.2_Missense_Mutation_p.S525L|USP33_uc001dhv.2_Missense_Mutation_p.S361L|USP33_uc001dhw.2_Intron	p.S556L	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			15	2014	-			556					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.1667C>T	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.245983|4.245983	0.80024|0.80024	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428	.|T;T;T	.|0.11277	.|2.8;2.79;2.79	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.382516	.|0.24312	.|N	.|0.039623	T|T	0.11623|0.11623	0.0283|0.0283	L|L	0.53617|0.53617	1.68|1.68	0.37554|0.37554	D|D	0.918796|0.918796	.|P;P	.|0.46020	.|0.843;0.871	.|P;P	.|0.54100	.|0.57;0.742	T|T	0.10590|0.10590	-1.0623|-1.0623	5|10	.|0.20046	.|T	.|0.44	.|.	13.85|13.85	0.63489|0.63489	0.0:0.0:0.8472:0.1528|0.0:0.0:0.8472:0.1528	.|.	.|525;556	.|Q8TEY7-2;Q8TEY7	.|.;UBP33_HUMAN	Y|L	161|525;556;556	.|ENSP00000359830:S525L;ENSP00000359829:S556L;ENSP00000350009:S556L	.|ENSP00000350009:S556L	H|S	-|-	1|2	0|0	USP33|USP33	77960187|77960187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.757000|1.757000	0.38400|0.38400	2.546000|2.546000	0.85860|0.85860	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.373	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2		NM_015017		14	29	0	0	0	0.003163	0	14	29		
LPAR3	23566	broad.mit.edu	37	1	85279670	85279670	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:85279670C>G	ENST00000440886.1	-	2	959	c.921G>C	c.(919-921)atG>atC	p.M307I	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.M307I			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	307					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AGCAGCAGATCATCTTCTTCA	0.547																																						uc001dkl.2		NaN																	0				lung(3)|ovary(2)	5						c.(919-921)ATG>ATC		lysophosphatidic acid receptor 3							123.0	112.0	116.0					1																	85279670		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85279670C>G	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.921G>C	1.37:g.85279670C>G	ENSP00000395389:p.Met307Ile					LPAR3_uc009wcj.1_Missense_Mutation_p.M307I	p.M307I	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			2	960	-			307			Cytoplasmic (Potential).		A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.921G>C	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488573	0.12641	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.35789	1.29;1.29	5.65	5.65	0.86999	.	0.045586	0.85682	D	0.000000	T	0.10895	0.0266	L	0.27053	0.805	0.41639	D	0.989068	P	0.35844	0.524	B	0.28849	0.095	T	0.06267	-1.0836	10	0.02654	T	1	.	18.7052	0.91635	0.0:1.0:0.0:0.0	.	307	Q9UBY5	LPAR3_HUMAN	I	307	ENSP00000395389:M307I;ENSP00000359643:M307I	ENSP00000359643:M307I	M	-	3	0	LPAR3	85052258	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.186000	0.42593	2.667000	0.90743	0.650000	0.86243	ATG		0.547	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1		NM_012152		16	64	0	0	0	0.007413	0	16	64		
SH3GLB1	51100	broad.mit.edu	37	1	87208005	87208005	+	Silent	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:87208005C>A	ENST00000370558.4	+	8	1200	c.876C>A	c.(874-876)atC>atA	p.I292I	SH3GLB1_ENST00000535010.1_Silent_p.I192I|SH3GLB1_ENST00000482504.1_Silent_p.I313I	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	292					'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		GCCTAGTAATCACCTCTCCTT	0.438																																						uc001dlw.2		NaN																	0					0						c.(874-876)ATC>ATA		SH3-containing protein SH3GLB1							159.0	135.0	143.0					1																	87208005		2203	4300	6503	SO:0001819	synonymous_variant	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87208005C>A	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.876C>A	1.37:g.87208005C>A						SH3GLB1_uc001dlx.2_Silent_p.I313I|SH3GLB1_uc001dly.2_Silent_p.I321I|SH3GLB1_uc001dlz.2_Silent_p.I192I	p.I292I	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	8	1202	+		Lung NSC(277;0.209)	292					B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Silent	SNP	ENST00000370558.4	37	c.876C>A	CCDS710.1																																																																																				0.438	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2		NM_016009		36	47	1	0	1.30015e-28	0.004878	1.51295e-28	36	47		
LRRC8D	55144	broad.mit.edu	37	1	90400866	90400866	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:90400866G>C	ENST00000337338.5	+	3	2646	c.2239G>C	c.(2239-2241)Gaa>Caa	p.E747Q	LRRC8D_ENST00000394593.3_Missense_Mutation_p.E747Q	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	747					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GATTCCAATAGAAATAGGATT	0.373																																						uc001dnm.2		NaN																	0				ovary(2)	2						c.(2239-2241)GAA>CAA		leucine rich repeat containing 8 family, member							86.0	88.0	87.0					1																	90400866		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90400866G>C	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2239G>C	1.37:g.90400866G>C	ENSP00000338887:p.Glu747Gln					LRRC8D_uc001dnn.2_Missense_Mutation_p.E747Q	p.E747Q	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2664	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	747			LRR 10.		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.2239G>C	CCDS726.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606190	0.66445	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.35236	1.32;1.32	6.07	6.07	0.98685	.	0.053759	0.64402	D	0.000001	T	0.56819	0.2011	M	0.80332	2.49	0.80722	D	1	D	0.56287	0.975	P	0.62649	0.905	T	0.53739	-0.8396	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	747	Q7L1W4	LRC8D_HUMAN	Q	747	ENSP00000338887:E747Q;ENSP00000378093:E747Q	.	E	+	1	0	LRRC8D	90173454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	GAA		0.373	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2		NM_018103		19	73	0	0	0	0.007413	0	19	73		
BARHL2	343472	broad.mit.edu	37	1	91182500	91182500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:91182500G>A	ENST00000370445.4	-	1	294	c.253C>T	c.(253-255)Cat>Tat	p.H85Y		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	85					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AGGTGGTGATGATGCTGGGTC	0.657																																					GBM(199;3561 4100 22440)	uc001dns.2		NaN																	0				ovary(1)	1						c.(253-255)CAT>TAT		BarH-like homeobox 2							19.0	23.0	21.0					1																	91182500		2202	4300	6502	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91182500G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.253C>T	1.37:g.91182500G>A	ENSP00000359474:p.His85Tyr						p.H85Y	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	295	-		all_lung(203;0.0263)|Lung SC(238;0.128)	85					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.253C>T	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639584	0.67244	.	.	ENSG00000143032	ENST00000370445	T	0.22539	1.95	5.92	5.92	0.95590	.	0.104543	0.64402	D	0.000006	T	0.06735	0.0172	N	0.14661	0.345	0.46823	D	0.999218	B	0.33073	0.396	B	0.26310	0.068	T	0.18398	-1.0338	10	0.36615	T	0.2	.	17.0542	0.86529	0.0:0.0:1.0:0.0	.	85	Q9NY43	BARH2_HUMAN	Y	85	ENSP00000359474:H85Y	ENSP00000359474:H85Y	H	-	1	0	BARHL2	90955088	1.000000	0.71417	0.995000	0.50966	0.836000	0.47400	8.599000	0.90856	2.810000	0.96702	0.650000	0.86243	CAT		0.657	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2				10	16	0	0	0	0.008291	0	10	16		
GCLM	2730	broad.mit.edu	37	1	94360257	94360257	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:94360257G>A	ENST00000370238.3	-	6	814	c.568C>T	c.(568-570)Ctt>Ttt	p.L190F	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	190					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	CAGGAGGCAAGATTAACTTGG	0.323																																						uc001dqg.1		NaN																	0				ovary(1)	1						c.(568-570)CTT>TTT		glutamate-cysteine ligase regulatory protein	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						137.0	133.0	134.0					1																	94360257		2203	4300	6503	SO:0001583	missense	2730				glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding	g.chr1:94360257G>A	L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"""gamma-glutamylcysteine synthetase"""	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.568C>T	1.37:g.94360257G>A	ENSP00000359258:p.Leu190Phe						p.L190F	NM_002061	NP_002052	P48507	GSH0_HUMAN		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	6	861	-		all_lung(203;0.000815)|Lung NSC(277;0.00363)	190					A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Missense_Mutation	SNP	ENST00000370238.3	37	c.568C>T	CCDS746.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702674	0.88924	.	.	ENSG00000023909	ENST00000370238	T	0.22945	1.93	5.85	4.94	0.65067	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.31752	-0.9932	10	0.37606	T	0.19	.	15.1137	0.72380	0.0678:0.0:0.9322:0.0	.	190	P48507	GSH0_HUMAN	F	190	ENSP00000359258:L190F	ENSP00000359258:L190F	L	-	1	0	GCLM	94132845	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.026000	0.57232	1.486000	0.48398	0.585000	0.79938	CTT		0.323	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1		NM_002061		51	87	0	0	0	0.01441	0	51	87		
CSDE1	7812	broad.mit.edu	37	1	115262243	115262243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:115262243G>A	ENST00000358528.4	-	18	2599	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*	CSDE1_ENST00000530886.1_Nonsense_Mutation_p.Q595*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.Q694*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.Q740*|CSDE1_ENST00000483407.1_5'Flank|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.Q725*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.Q694*|NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000438362.2_Nonsense_Mutation_p.Q771*	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	725	CSD 9.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGTGCGCTGATTAAGAATC	0.448																																						uc001efk.2		NaN																	0				ovary(1)	1						c.(2173-2175)CAG>TAG		upstream of NRAS isoform 1							151.0	152.0	151.0					1																	115262243		2203	4300	6503	SO:0001587	stop_gained	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115262243G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.2173C>T	1.37:g.115262243G>A	ENSP00000351329:p.Gln725*					NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Nonsense_Mutation_p.Q771*|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Nonsense_Mutation_p.Q694*|CSDE1_uc001efm.2_Nonsense_Mutation_p.Q740*|CSDE1_uc009wgv.2_Nonsense_Mutation_p.Q725*|CSDE1_uc001efn.2_Nonsense_Mutation_p.Q694*	p.Q725*	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	2639	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	725			CSD 9.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Nonsense_Mutation	SNP	ENST00000358528.4	37	c.2173C>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	44	11.066209	0.99511	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	6.17	6.17	0.99709	.	0.106321	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-2.0288	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	694;771;725;694;595;740;725	.	ENSP00000261443:Q694X	Q	-	1	0	CSDE1	115063766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.405000	0.97313	2.941000	0.99782	0.655000	0.94253	CAG		0.448	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1		NM_007158		24	101	0	0	0	0.005443	0	24	101		
NBPF10	100132406	broad.mit.edu	37	1	145301812	145301812	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:145301812G>A	ENST00000369339.3	+	4	521	c.268G>A	c.(268-270)Gag>Aag	p.E90K	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.E90K|NBPF10_ENST00000342960.5_Missense_Mutation_p.E361K			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	361						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAAGCAAGCTGAGGAGCTCAG	0.522																																						uc001end.3		NaN																	0					0						c.(1081-1083)GAG>AAG		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145301812G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.268G>A	1.37:g.145301812G>A	ENSP00000358345:p.Glu90Lys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E361K|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.E90K	p.E361K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	7	1116	+	all_hematologic(923;0.032)		361					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.1081G>A		.	.	.	.	.	.	.	.	.	.	.	12.02	1.812926	0.32053	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.09073	3.02;4.08	0.616	0.616	0.17613	.	.	.	.	.	T	0.05044	0.0135	L	0.58428	1.81	0.09310	N	1	P;P	0.42203	0.773;0.593	B;P	0.45577	0.407;0.486	T	0.29579	-1.0007	8	0.59425	D	0.04	.	.	.	.	.	90;90	A8MQ30;Q86T75-2	.;.	K	286;90;90;361	ENSP00000358344:E90K;ENSP00000345684:E361K	ENSP00000345684:E361K	E	+	1	0	NBPF10	144013169	0.000000	0.05858	0.007000	0.13788	0.020000	0.10135	-0.865000	0.04250	0.608000	0.30000	0.162000	0.16502	GAG		0.522	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3		NM_001039703		9	179	0	0	0	0.003954	0	9	179		
FMO5	2330	broad.mit.edu	37	1	146672879	146672879	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:146672879G>C	ENST00000254090.4	-	7	1426	c.1038C>G	c.(1036-1038)gtC>gtG	p.V346V	RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Silent_p.V346V|FMO5_ENST00000369272.3_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	346						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TCTTGTTTTTGACCACTTTGA	0.443																																						uc001epi.2		NaN																	0				ovary(3)	3						c.(1036-1038)GTC>GTG		flavin containing monooxygenase 5 isoform 1							115.0	112.0	113.0					1																	146672879		2203	4300	6503	SO:0001819	synonymous_variant	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146672879G>C	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1038C>G	1.37:g.146672879G>C						FMO5_uc001eph.3_Silent_p.V346V|FMO5_uc001epj.2_Intron	p.V346V	NM_001461	NP_001452	P49326	FMO5_HUMAN			7	1427	-	all_hematologic(923;0.0487)		346					B2RBG1|C9JJD1|Q8IV22	Silent	SNP	ENST00000254090.4	37	c.1038C>G	CCDS926.1																																																																																				0.443	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2		NM_001461		6	68	0	0	0	0.001984	0	6	68		
BCL9	607	broad.mit.edu	37	1	147092562	147092562	+	Silent	SNP	G	G	A	rs370283874		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:147092562G>A	ENST00000234739.3	+	8	3341	c.2601G>A	c.(2599-2601)acG>acA	p.T867T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	867	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGTCTCCCACGATGCACCAAG	0.637			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NaN		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(2599-2601)ACG>ACA		B-cell CLL/lymphoma 9		G		0,4406		0,0,2203	65.0	65.0	65.0		2601	-10.7	0.1	1		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BCL9	NM_004326.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		867/1427	147092562	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092562G>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2601G>A	1.37:g.147092562G>A						BCL9_uc010ozr.1_Silent_p.T793T	p.T867T	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	3341	+	all_hematologic(923;0.115)		867			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.2601G>A	CCDS30833.1																																																																																				0.637	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1		NM_004326		23	97	0	0	0	0.003954	0	23	97		
HORMAD1	84072	broad.mit.edu	37	1	150687152	150687152	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:150687152G>A	ENST00000361824.2	-	4	286	c.181C>T	c.(181-183)Ctt>Ttt	p.L61F	HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000322343.7_Missense_Mutation_p.L61F|HORMAD1_ENST00000368993.2_Missense_Mutation_p.L61F|HORMAD1_ENST00000368995.4_Intron	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	61	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGACACAAAGATCTAAACAC	0.274																																						uc001evk.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(181-183)CTT>TTT		HORMA domain containing 1							40.0	38.0	39.0					1																	150687152		2200	4278	6478	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150687152G>A	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.181C>T	1.37:g.150687152G>A	ENSP00000355167:p.Leu61Phe					HORMAD1_uc001evl.1_Missense_Mutation_p.L61F|HORMAD1_uc001evm.1_Intron	p.L61F	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		4	287	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		61			HORMA.		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.181C>T	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174286	0.38413	.	.	ENSG00000143452	ENST00000368993;ENST00000322343;ENST00000361824	T;T;T	0.37915	1.2;1.17;1.2	4.86	1.87	0.25490	DNA-binding HORMA (4);	0.206674	0.41097	D	0.000954	T	0.28732	0.0712	M	0.86502	2.82	0.39552	D	0.968991	B;B	0.18610	0.019;0.029	B;B	0.27887	0.037;0.084	T	0.16928	-1.0386	10	0.42905	T	0.14	-2.1831	12.0235	0.53356	0.0:0.0:0.3956:0.6043	.	61;61	Q86X24-2;Q86X24	.;HORM1_HUMAN	F	61	ENSP00000357989:L61F;ENSP00000326489:L61F;ENSP00000355167:L61F	ENSP00000326489:L61F	L	-	1	0	HORMAD1	148953776	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.079000	0.30766	0.220000	0.20860	0.563000	0.77884	CTT		0.274	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1		NM_032132		14	59	0	0	0	0.007413	0	14	59		
SETDB1	9869	broad.mit.edu	37	1	150923439	150923439	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:150923439G>C	ENST00000271640.5	+	13	2276	c.2086G>C	c.(2086-2088)Gag>Cag	p.E696Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.E696Q|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	696					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGTCAATGAGATTGACAC	0.468																																						uc001evu.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2086-2088)GAG>CAG		SET domain, bifurcated 1 isoform 1							95.0	96.0	95.0					1																	150923439		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150923439G>C	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2086G>C	1.37:g.150923439G>C	ENSP00000271640:p.Glu696Gln					SETDB1_uc009wmf.2_Missense_Mutation_p.E697Q|SETDB1_uc001evv.2_Missense_Mutation_p.E696Q|SETDB1_uc009wmg.1_Missense_Mutation_p.E696Q	p.E696Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	2276	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		696					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2086G>C	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827127	0.71143	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.90504	-2.68;-2.68;-2.68	5.66	5.66	0.87406	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.107759	0.64402	D	0.000003	D	0.94341	0.8181	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.87578	0.998;0.991;0.995	D	0.94410	0.7631	10	0.72032	D	0.01	.	18.744	0.91785	0.0:0.0:1.0:0.0	.	696;696;696	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	Q	696	ENSP00000271640:E696Q;ENSP00000357965:E696Q;ENSP00000432348:E696Q	ENSP00000271640:E696Q	E	+	1	0	SETDB1	149190063	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	9.807000	0.99171	2.656000	0.90262	0.655000	0.94253	GAG		0.468	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2				16	75	0	0	0	0.00333	0	16	75		
PRUNE	58497	broad.mit.edu	37	1	151001306	151001306	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:151001306C>G	ENST00000271620.3	+	7	975	c.819C>G	c.(817-819)ttC>ttG	p.F273L	PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368936.1_Missense_Mutation_p.F91L|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368934.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	273						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCATGCTTTCTGCCAGGCTC	0.478																																						uc001ewh.1		NaN																	0				ovary(1)	1						c.(817-819)TTC>TTG		prune							180.0	151.0	161.0					1																	151001306		2203	4300	6503	SO:0001583	missense	58497					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding	g.chr1:151001306C>G	U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.819C>G	1.37:g.151001306C>G	ENSP00000271620:p.Phe273Leu					PRUNE_uc001ewi.1_Missense_Mutation_p.F91L|PRUNE_uc010pco.1_Missense_Mutation_p.F41L|PRUNE_uc001ewj.1_Intron|PRUNE_uc001ewk.1_Intron	p.F273L	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	955	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		273					B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	ENST00000271620.3	37	c.819C>G	CCDS977.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625187	0.66901	.	.	ENSG00000143363	ENST00000450884;ENST00000271620;ENST00000302413;ENST00000368936	T;T	0.40476	1.26;1.03	5.12	4.22	0.49857	DHHA2 (1);	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	L	0.52573	1.65	0.80722	D	1	P	0.36086	0.536	B	0.34489	0.184	T	0.14559	-1.0468	10	0.72032	D	0.01	-16.0871	11.3928	0.49824	0.0:0.9126:0.0:0.0874	.	273	Q86TP1	PRUNE_HUMAN	L	91;273;206;91	ENSP00000271620:F273L;ENSP00000357932:F91L	ENSP00000271620:F273L	F	+	3	2	PRUNE	149267930	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.195000	0.51013	1.395000	0.46643	-0.199000	0.12753	TTC		0.478	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1		NM_021222		16	109	0	0	0	0.010504	0	16	109		
TCHH	7062	broad.mit.edu	37	1	152081239	152081239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:152081239C>G	ENST00000368804.1	-	2	4453	c.4454G>C	c.(4453-4455)aGa>aCa	p.R1485T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1485	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGAATTTTCTGTCACGCTC	0.552																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4453-4455)AGA>ACA		trichohyalin							97.0	96.0	96.0					1																	152081239		1896	4106	6002	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081239C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4454G>C	1.37:g.152081239C>G	ENSP00000357794:p.Arg1485Thr					TCHH_uc009wne.1_Missense_Mutation_p.R1485T	p.R1485T	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4454	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1485			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4454G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	7.591	0.670721	0.14776	.	.	ENSG00000159450	ENST00000368804	T	0.04809	3.55	3.51	-1.31	0.09230	.	.	.	.	.	T	0.01835	0.0058	M	0.69823	2.125	0.09310	N	1	P	0.47409	0.895	B	0.41332	0.354	T	0.42531	-0.9446	9	0.23891	T	0.37	.	4.5818	0.12262	0.0:0.5042:0.1623:0.3335	.	1485	Q07283	TRHY_HUMAN	T	1485	ENSP00000357794:R1485T	ENSP00000357794:R1485T	R	-	2	0	TCHH	150347863	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.121000	0.15667	-0.111000	0.12001	0.195000	0.17529	AGA		0.552	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		44	147	0	0	0	0.01441	0	44	147		
INTS3	65123	broad.mit.edu	37	1	153713793	153713793	+	Silent	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:153713793C>A	ENST00000318967.2	+	3	835	c.267C>A	c.(265-267)atC>atA	p.I89I	INTS3_ENST00000456435.1_5'UTR|INTS3_ENST00000435409.2_Silent_p.I89I	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	89					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATGAAGAAATCTGCCTGGGCC	0.493																																						uc009wom.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(265-267)ATC>ATA		integrator complex subunit 3							135.0	136.0	135.0					1																	153713793		2203	4300	6503	SO:0001819	synonymous_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153713793C>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.267C>A	1.37:g.153713793C>A						INTS3_uc001fct.2_Silent_p.I89I|INTS3_uc001fcu.2_Translation_Start_Site|INTS3_uc001fcv.2_Translation_Start_Site	p.I89I	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	488	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		89					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	c.267C>A	CCDS1052.1																																																																																				0.493	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2		NM_023015		18	169	1	0	5.35047e-06	0.00333	5.57022e-06	18	169		
KCNN3	3782	broad.mit.edu	37	1	154841844	154841844	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:154841844G>C	ENST00000271915.4	-	1	912	c.597C>G	c.(595-597)atC>atG	p.I199M	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	204					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TCTCGGCCTCGATGAGGTTCC	0.637																																						uc001ffp.2		NaN																	0				lung(1)	1						c.(595-597)ATC>ATG		small conductance calcium-activated potassium							45.0	47.0	46.0					1																	154841844		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154841844G>C	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.597C>G	1.37:g.154841844G>C	ENSP00000271915:p.Ile199Met					KCNN3_uc009wox.1_Missense_Mutation_p.I199M	p.I199M	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	911	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		204					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.597C>G	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822909	0.32237	.	.	ENSG00000143603	ENST00000271915	D	0.95518	-3.73	4.75	-2.49	0.06403	.	0.000000	0.44483	D	0.000450	D	0.83977	0.5371	N	0.08118	0	0.80722	D	1	D;D	0.62365	0.991;0.976	P;P	0.53760	0.734;0.612	T	0.80754	-0.1241	10	0.34782	T	0.22	-24.1517	4.4068	0.11413	0.3266:0.0:0.416:0.2574	.	205;204	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	M	199	ENSP00000271915:I199M	ENSP00000271915:I199M	I	-	3	3	KCNN3	153108468	0.000000	0.05858	0.993000	0.49108	0.989000	0.77384	-2.487000	0.00977	-0.243000	0.09653	-0.314000	0.08810	ATC		0.637	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3		NM_002249		7	61	0	0	0	0.004482	0	7	61		
PAQR6	79957	broad.mit.edu	37	1	156215947	156215947	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:156215947G>A	ENST00000292291.5	-	3	304	c.146C>T	c.(145-147)aCg>aTg	p.T49M	PAQR6_ENST00000335852.1_De_novo_Start_InFrame|PAQR6_ENST00000540423.1_Missense_Mutation_p.T46M|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_Missense_Mutation_p.T25M|PAQR6_ENST00000356983.2_De_novo_Start_InFrame	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	49						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GATGTTGACCGTCTCGTTGGT	0.647																																					GBM(16;219 398 12385 32425 38531)	uc001fnu.1		NaN																	0					0						c.(145-147)ACG>ATG		progestin and adipoQ receptor family member VI							87.0	76.0	80.0					1																	156215947		2203	4300	6503	SO:0001583	missense	79957					integral to membrane	receptor activity	g.chr1:156215947G>A	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.146C>T	1.37:g.156215947G>A	ENSP00000292291:p.Thr49Met					PAQR6_uc010phf.1_Translation_Start_Site|PAQR6_uc001fny.1_Translation_Start_Site|PAQR6_uc001fnv.1_Missense_Mutation_p.T25M|PAQR6_uc010phg.1_Missense_Mutation_p.T46M|PAQR6_uc001fnx.1_Translation_Start_Site|PAQR6_uc001fnw.1_Translation_Start_Site|PAQR6_uc001fnz.1_Translation_Start_Site|PAQR6_uc010phh.1_Missense_Mutation_p.T49M|PAQR6_uc001foa.1_Translation_Start_Site|PAQR6_uc001fob.1_RNA	p.T49M	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN			3	216	-	Hepatocellular(266;0.158)		49			Cytoplasmic (Potential).		B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.146C>T	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238593	0.95240	.	.	ENSG00000160781	ENST00000292291;ENST00000368270;ENST00000540423	T;T;T	0.35789	1.29;1.29;1.29	5.61	5.61	0.85477	.	.	.	.	.	T	0.64929	0.2643	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73113	-0.4085	9	0.87932	D	0	-16.8742	18.2012	0.89839	0.0:0.0:1.0:0.0	.	46;49	B7Z9R9;Q6TCH4	.;PAQR6_HUMAN	M	49;25;46	ENSP00000292291:T49M;ENSP00000357253:T25M;ENSP00000443167:T46M	ENSP00000292291:T49M	T	-	2	0	PAQR6	154482571	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.713000	0.98740	2.643000	0.89663	0.462000	0.41574	ACG		0.647	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2		NM_024897		23	43	0	0	0	0.004656	0	23	43		
SMG5	23381	broad.mit.edu	37	1	156237348	156237348	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:156237348C>G	ENST00000361813.5	-	10	1174	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'UTR	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	344					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TATCCACTCTCATACTCCTCC	0.527																																						uc001foc.3		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1030-1032)GAG>CAG		SMG5 homolog nonsense mediated mRNA decay							148.0	130.0	136.0					1																	156237348		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156237348C>G	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1030G>C	1.37:g.156237348C>G	ENSP00000355261:p.Glu344Gln					SMG5_uc009wrv.2_5'Flank	p.E344Q	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			10	1179	-	Hepatocellular(266;0.158)		344					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.1030G>C	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093018	0.76756	.	.	ENSG00000198952	ENST00000361813	T	0.33216	1.42	5.74	5.74	0.90152	.	0.150972	0.64402	D	0.000014	T	0.17323	0.0416	L	0.43923	1.385	0.80722	D	1	B	0.30068	0.267	B	0.26202	0.067	T	0.02037	-1.1225	10	0.33141	T	0.24	-6.1178	18.5012	0.90882	0.0:1.0:0.0:0.0	.	344	Q9UPR3	SMG5_HUMAN	Q	344	ENSP00000355261:E344Q	ENSP00000355261:E344Q	E	-	1	0	SMG5	154503972	0.999000	0.42202	0.996000	0.52242	0.981000	0.71138	5.134000	0.64770	2.717000	0.92951	0.655000	0.94253	GAG		0.527	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1		NM_015327		9	91	0	0	0	0.010729	0	9	91		
C1orf61	10485	broad.mit.edu	37	1	156386657	156386657	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:156386657C>G	ENST00000368243.1	-	3	92		c.e3-1			NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61							nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					TTTTTACATTCTGAAACAAAT	0.388																																						uc001fou.1		NaN																	0				skin(1)	1						c.e3-1		transcriptional activator of the c-fos promoter							69.0	69.0	69.0					1																	156386657		2203	4300	6503	SO:0001630	splice_region_variant	10485					nucleus		g.chr1:156386657C>G		CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.25-1G>C	1.37:g.156386657C>G						C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron|C1orf61_uc001foy.1_Intron		NM_006365	NP_006356	Q13536	CROC4_HUMAN			3	93	-	Hepatocellular(266;0.158)							B1ALL5|B1ALL8	Splice_Site	SNP	ENST00000368243.1	37	c.-24_splice	CCDS1142.1																																																																																				0.388	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075988.1		NM_006365	Intron	13	35	0	0	0	0.00245	0	13	35		
BCAN	63827	broad.mit.edu	37	1	156617355	156617355	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:156617355G>A	ENST00000329117.5	+	4	858	c.522G>A	c.(520-522)ggG>ggA	p.G174G	RP11-284F21.10_ENST00000605886.1_RNA|BCAN_ENST00000361588.5_Silent_p.G174G|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	174	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTTTCTGGGGCCCAGGAGG	0.642																																						uc001fpp.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(520-522)GGG>GGA		brevican isoform 1							51.0	54.0	53.0					1																	156617355		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617355G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.522G>A	1.37:g.156617355G>A						BCAN_uc001fpo.2_Silent_p.G174G	p.G174G	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			4	858	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		174			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.522G>A	CCDS1149.1																																																																																				0.642	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2		NM_021948		13	35	0	0	0	0.004007	0	13	35		
NES	10763	broad.mit.edu	37	1	156640696	156640696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:156640696G>A	ENST00000368223.3	-	4	3416	c.3284C>T	c.(3283-3285)gCg>gTg	p.A1095V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1095	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAGCTCCCGCAGCAGACTC	0.662																																						uc001fpq.2		NaN																	0				ovary(6)	6						c.(3283-3285)GCG>GTG		nestin							20.0	24.0	23.0					1																	156640696		2198	4292	6490	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640696G>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3284C>T	1.37:g.156640696G>A	ENSP00000357206:p.Ala1095Val						p.A1095V	NM_006617	NP_006608	P48681	NEST_HUMAN			4	3417	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1095			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3284C>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.224030	0.01530	.	.	ENSG00000132688	ENST00000368223	D	0.85702	-2.02	3.45	-6.9	0.01655	.	.	.	.	.	T	0.35008	0.0917	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34825	-0.9813	9	0.02654	T	1	.	7.7323	0.28793	0.1437:0.1104:0.6362:0.1097	.	1095	P48681	NEST_HUMAN	V	1095	ENSP00000357206:A1095V	ENSP00000357206:A1095V	A	-	2	0	NES	154907320	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-4.371000	0.00244	-2.247000	0.00703	-1.298000	0.01336	GCG		0.662	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617		17	44	0	0	0	0.00499	0	17	44		
OR6K6	128371	broad.mit.edu	37	1	158724899	158724899	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:158724899G>A	ENST00000368144.2	+	1	390	c.294G>A	c.(292-294)gaG>gaA	p.E98E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTCCTGGAGATCTGCTATA	0.483																																						uc001fsw.1		NaN																	0				skin(1)	1						c.(292-294)GAG>GAA		olfactory receptor, family 6, subfamily K,							139.0	139.0	139.0					1																	158724899		2203	4300	6503	SO:0001819	synonymous_variant	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158724899G>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.294G>A	1.37:g.158724899G>A							p.E98E	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	294	+	all_hematologic(112;0.0378)		98			Helical; Name=2; (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	ENST00000368144.2	37	c.294G>A	CCDS30904.1																																																																																				0.483	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2		NM_001005184		58	177	0	0	0	0.01441	0	58	177		
ATP1A2	477	broad.mit.edu	37	1	160098495	160098495	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:160098495G>A	ENST00000361216.3	+	9	1160	c.1071G>A	c.(1069-1071)aaG>aaA	p.K357K	ATP1A2_ENST00000392233.3_Silent_p.K357K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	357					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGGTGAAGAACCTGGAGG	0.592																																						uc001fvc.2		NaN																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(1069-1071)AAG>AAA		Na+/K+ -ATPase alpha 2 subunit proprotein							108.0	96.0	100.0					1																	160098495		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098495G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1071G>A	1.37:g.160098495G>A						ATP1A2_uc001fvb.2_Silent_p.K357K|ATP1A2_uc010piz.1_Silent_p.K202K|ATP1A2_uc001fvd.2_Silent_p.K93K|ATP1A2_uc009wtg.1_Silent_p.K45K	p.K357K	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1203	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		357			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1071G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526708	0.27299	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.65322	0.2680	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64909	-0.6296	4	.	.	.	.	16.9484	0.86236	0.0:0.0:1.0:0.0	.	.	.	.	K	68	.	.	R	+	2	0	ATP1A2	158365119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.935000	0.87658	2.359000	0.80004	0.561000	0.74099	AGA		0.592	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2		NM_000702		29	97	0	0	0	0.003755	0	29	97		
RXRG	6258	broad.mit.edu	37	1	165370572	165370572	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:165370572G>C	ENST00000359842.5	-	10	1622	c.1320C>G	c.(1318-1320)ttC>ttG	p.F440L		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	440	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CGATGAGCTTGAAGAAGAAGA	0.597																																						uc001gda.2		NaN																	0					0						c.(1318-1320)TTC>TTG		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						107.0	101.0	103.0					1																	165370572		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165370572G>C	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1320C>G	1.37:g.165370572G>C	ENSP00000352900:p.Phe440Leu						p.F440L	NM_006917	NP_008848	P48443	RXRG_HUMAN			10	1620	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		440			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.1320C>G	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343430	0.82022	.	.	ENSG00000143171	ENST00000359842	T	0.68765	-0.35	4.62	4.62	0.57501	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	L	0.41356	1.27	0.58432	D	0.999995	D	0.60160	0.987	D	0.67725	0.953	T	0.72590	-0.4247	9	0.59425	D	0.04	.	16.1865	0.81959	0.0:0.0:1.0:0.0	.	440	P48443	RXRG_HUMAN	L	440	ENSP00000352900:F440L	ENSP00000352900:F440L	F	-	3	2	RXRG	163637196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.172000	0.58243	2.377000	0.81083	0.555000	0.69702	TTC		0.597	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2		NM_006917		49	98	0	0	0	0.01441	0	49	98		
DPT	1805	broad.mit.edu	37	1	168665804	168665804	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:168665804C>T	ENST00000367817.3	-	4	678	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	197					cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TTTGCAAATTCACAGTCGTAT	0.473																																						uc001gfp.2		NaN																	0				ovary(1)	1						c.(589-591)GAA>AAA		dermatopontin precursor							96.0	89.0	91.0					1																	168665804		2203	4300	6503	SO:0001583	missense	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168665804C>T	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.589G>A	1.37:g.168665804C>T	ENSP00000356791:p.Glu197Lys						p.E197K	NM_001937	NP_001928	Q07507	DERM_HUMAN			4	605	-	all_hematologic(923;0.208)		197					A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.589G>A	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637731	0.67130	.	.	ENSG00000143196	ENST00000367817	T	0.45668	0.89	5.64	5.64	0.86602	.	0.152021	0.56097	D	0.000023	T	0.23688	0.0573	L	0.47716	1.5	0.37996	D	0.934077	B	0.28291	0.206	B	0.28139	0.086	T	0.07635	-1.0762	9	0.30854	T	0.27	-16.9711	14.7374	0.69424	0.0:0.8545:0.1455:0.0	.	197	Q07507	DERM_HUMAN	K	197	ENSP00000356791:E197K	ENSP00000356791:E197K	E	-	1	0	DPT	166932428	0.988000	0.35896	0.995000	0.50966	0.944000	0.59088	2.167000	0.42415	2.653000	0.90120	0.655000	0.94253	GAA		0.473	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1		NM_001937		9	61	0	0	0	0.008291	0	9	61		
KIFAP3	22920	broad.mit.edu	37	1	169930298	169930298	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:169930298C>G	ENST00000361580.2	-	18	2289	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	KIFAP3_ENST00000540905.1_Missense_Mutation_p.E390Q|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E610Q|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E644Q|RN7SL269P_ENST00000467795.2_RNA|KIFAP3_ENST00000367765.1_Missense_Mutation_p.E648Q	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	688					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.E688K(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGACGACTCTCTACCATCTCC	0.408																																						uc001ggv.2		NaN																	1	Substitution - Missense(1)		skin(1)	skin(1)	1						c.(2062-2064)GAG>CAG		kinesin-associated protein 3							147.0	133.0	138.0					1																	169930298		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169930298C>G	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.2062G>C	1.37:g.169930298C>G	ENSP00000354560:p.Glu688Gln					KIFAP3_uc010plx.1_Missense_Mutation_p.E390Q	p.E688Q	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			18	2333	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		688					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.2062G>C	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060599	0.93846	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.28	5.28	0.74379	.	0.047350	0.85682	D	0.000000	T	0.62233	0.2411	M	0.77313	2.365	0.80722	D	1	P	0.48834	0.916	P	0.54856	0.762	T	0.63554	-0.6611	9	.	.	.	-18.5495	18.5872	0.91194	0.0:1.0:0.0:0.0	.	688	Q92845	KIFA3_HUMAN	Q	688;648;644;390;610	ENSP00000354560:E688Q;ENSP00000356739:E648Q;ENSP00000356741:E644Q;ENSP00000442712:E390Q;ENSP00000444622:E610Q	.	E	-	1	0	KIFAP3	168196922	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.372000	0.79612	2.481000	0.83766	0.454000	0.30748	GAG		0.408	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1		NM_014970		63	83	0	0	0	0.01441	0	63	83		
PRRX1	5396	broad.mit.edu	37	1	170633362	170633362	+	Start_Codon_SNP	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:170633362G>A	ENST00000239461.6	+	1	316	c.3G>A	c.(1-3)atG>atA	p.M1I	PRRX1_ENST00000367760.3_Start_Codon_SNP_p.M1I|PRRX1_ENST00000497230.2_Start_Codon_SNP_p.M1I	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	1					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGAGACCATGACCTCCAGCT	0.657																																						uc001ghf.2		NaN																	0				ovary(1)	1						c.(1-3)ATG>ATA		paired mesoderm homeobox 1 isoform pmx-1b							20.0	24.0	23.0					1																	170633362		2201	4299	6500	SO:0001582	initiator_codon_variant	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170633362G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.3G>A	1.37:g.170633362G>A	ENSP00000239461:p.Met1Ile					PRRX1_uc001ghe.2_Missense_Mutation_p.M1I	p.M1I	NM_022716	NP_073207	P54821	PRRX1_HUMAN			1	50	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		1					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.3G>A	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318632	0.60524	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230	D;D;D	0.91464	-2.8;-2.85;-2.78	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.83995	0.5375	.	.	.	0.80722	D	1	B;B	0.16396	0.01;0.017	B;B	0.16722	0.007;0.016	T	0.83295	-0.0031	9	0.87932	D	0	.	16.4302	0.83840	0.0:0.0:1.0:0.0	.	1;1	P54821;P54821-2	PRRX1_HUMAN;.	I	1	ENSP00000356734:M1I;ENSP00000239461:M1I;ENSP00000450762:M1I	ENSP00000239461:M1I	M	+	3	0	PRRX1	168899986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.518000	0.90559	2.447000	0.82792	0.555000	0.69702	ATG		0.657	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3		NM_006902	Missense_Mutation	4	13	0	0	0	0.009096	0	4	13		
LHX4	89884	broad.mit.edu	37	1	180241097	180241097	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:180241097C>G	ENST00000263726.2	+	5	978	c.734C>G	c.(733-735)tCt>tGt	p.S245C	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	245					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						AAGGAGAGCTCTGCAGAGGAC	0.617																																						uc001goe.1		NaN																	0				ovary(1)	1						c.(733-735)TCT>TGT		LIM homeobox protein 4							70.0	80.0	76.0					1																	180241097		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180241097C>G	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.734C>G	1.37:g.180241097C>G	ENSP00000263726:p.Ser245Cys					uc001gof.1_RNA	p.S245C	NM_033343	NP_203129	Q969G2	LHX4_HUMAN			5	957	+			245					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.734C>G	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988272	0.93106	.	.	ENSG00000121454	ENST00000263726	D	0.89343	-2.5	5.59	5.59	0.84812	.	0.060130	0.64402	D	0.000001	D	0.88108	0.6348	L	0.44542	1.39	0.80722	D	1	P	0.51351	0.944	P	0.45913	0.497	D	0.88906	0.3356	10	0.56958	D	0.05	.	18.3679	0.90398	0.0:1.0:0.0:0.0	.	245	Q969G2	LHX4_HUMAN	C	245	ENSP00000263726:S245C	ENSP00000263726:S245C	S	+	2	0	LHX4	178507720	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	5.768000	0.68858	2.631000	0.89168	0.561000	0.74099	TCT		0.617	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2		NM_033343		5	44	0	0	0	0.001984	0	5	44		
BRINP3	339479	broad.mit.edu	37	1	190195374	190195374	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:190195374A>T	ENST00000367462.3	-	6	1030	c.799T>A	c.(799-801)Tca>Aca	p.S267T	BRINP3_ENST00000534846.1_Missense_Mutation_p.S165T|BRINP3_ENST00000463404.1_5'Flank	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	267					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TCTCCCTCTGAATTGCAAGCA	0.438																																						uc001gse.1		NaN																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(799-801)TCA>ACA		family with sequence similarity 5, member C							92.0	84.0	87.0					1																	190195374		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190195374A>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.799T>A	1.37:g.190195374A>T	ENSP00000356432:p.Ser267Thr					FAM5C_uc010pot.1_Missense_Mutation_p.S165T	p.S267T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			6	1031	-	Prostate(682;0.198)		267					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.799T>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943614	0.53079	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.22336	2.21;1.96	5.68	5.68	0.88126	.	0.152498	0.46758	D	0.000276	T	0.22742	0.0549	L	0.49126	1.545	0.36914	D	0.891025	P;B	0.35612	0.512;0.378	B;B	0.35353	0.201;0.099	T	0.15235	-1.0444	10	0.54805	T	0.06	.	13.8851	0.63704	1.0:0.0:0.0:0.0	.	165;267	B7Z260;Q76B58	.;FAM5C_HUMAN	T	267;165	ENSP00000356432:S267T;ENSP00000438022:S165T	ENSP00000356432:S267T	S	-	1	0	FAM5C	188461997	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.237000	0.65360	2.155000	0.67459	0.460000	0.39030	TCA		0.438	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1		NM_199051		19	60	0	0	0	0.00333	0	19	60		
ADIPOR1	51094	broad.mit.edu	37	1	202920093	202920093	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:202920093C>G	ENST00000340990.5	-	2	404	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.E36Q|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.E36Q	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	36					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)			TTGCCCTTCTCTTCTAGCAGG	0.527																																						uc001gyq.3		NaN																	0					0						c.(106-108)GAG>CAG		adiponectin receptor 1							171.0	157.0	162.0					1																	202920093		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202920093C>G		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.106G>C	1.37:g.202920093C>G	ENSP00000341785:p.Glu36Gln					ADIPOR1_uc010pqd.1_5'Flank|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Missense_Mutation_p.E36Q	p.E36Q	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		2	373	-			36			Cytoplasmic (Potential).		B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.106G>C	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010282	0.54361	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07	5.96	5.06	0.68205	.	0.096519	0.64402	D	0.000001	D	0.91284	0.7252	N	0.19112	0.55	0.53688	D	0.999972	B	0.31100	0.308	B	0.29524	0.103	D	0.89028	0.3440	10	0.20519	T	0.43	.	13.9573	0.64157	0.0:0.9267:0.0:0.0733	.	36	Q96A54	ADR1_HUMAN	Q	36	ENSP00000341785:E36Q;ENSP00000395469:E36Q;ENSP00000402178:E36Q;ENSP00000356223:E36Q;ENSP00000392946:E36Q	ENSP00000341785:E36Q	E	-	1	0	ADIPOR1	201186716	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	6.271000	0.72569	1.530000	0.49136	-0.140000	0.14226	GAG		0.527	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2		NM_015999		16	148	0	0	0	0.006122	0	16	148		
CHIT1	1118	broad.mit.edu	37	1	203192738	203192738	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:203192738G>C	ENST00000367229.1	-	5	399	c.365C>G	c.(364-366)tCg>tGg	p.S122W	CHIT1_ENST00000535569.1_Missense_Mutation_p.S113W|CHIT1_ENST00000255427.3_Missense_Mutation_p.S103W|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	122					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CCTGATGGCCGAGTTGACAAA	0.577																																						uc001gzn.2		NaN																	0					0						c.(364-366)TCG>TGG		chitotriosidase precursor							154.0	139.0	145.0					1																	203192738		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192738G>C	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.365C>G	1.37:g.203192738G>C	ENSP00000356198:p.Ser122Trp					FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.S113W	p.S122W	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			5	461	-			122					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.365C>G	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409982	0.62399	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.12255	2.7;2.7;2.7	5.0	2.13	0.27403	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.40728	N	0.001025	T	0.48804	0.1520	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54754	-0.8246	10	0.87932	D	0	-7.7588	8.5449	0.33415	0.2538:0.0:0.7462:0.0	.	113;122	G5EA51;Q13231	.;CHIT1_HUMAN	W	122;103;113	ENSP00000356198:S122W;ENSP00000255427:S103W;ENSP00000438078:S113W	ENSP00000255427:S103W	S	-	2	0	CHIT1	201459361	1.000000	0.71417	0.002000	0.10522	0.064000	0.16182	6.815000	0.75242	0.160000	0.19432	0.643000	0.83706	TCG		0.577	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2		NM_003465		22	180	0	0	0	0.005443	0	22	180		
ATP2B4	493	broad.mit.edu	37	1	203680026	203680026	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:203680026G>A	ENST00000357681.5	+	12	2944	c.1821G>A	c.(1819-1821)cgG>cgA	p.R607R	ATP2B4_ENST00000391954.2_Silent_p.R607R|ATP2B4_ENST00000367218.3_Silent_p.R607R|ATP2B4_ENST00000341360.2_Silent_p.R607R|ATP2B4_ENST00000367219.3_Silent_p.R595R	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	607					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCTGGACCGGAAAGGGGAAG	0.502																																						uc001gzw.2		NaN																	0				ovary(2)|skin(1)	3						c.(1819-1821)CGG>CGA		plasma membrane calcium ATPase 4 isoform 4b							62.0	50.0	54.0					1																	203680026		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203680026G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1821G>A	1.37:g.203680026G>A						ATP2B4_uc001gzv.2_Silent_p.R607R|ATP2B4_uc009xaq.2_Silent_p.R607R	p.R607R	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	2705	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		607			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.1821G>A	CCDS1440.1																																																																																				0.502	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1		NM_001001396		15	24	0	0	0	0.003163	0	15	24		
REN	5972	broad.mit.edu	37	1	204135397	204135397	+	Missense_Mutation	SNP	G	G	A	rs115181548		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:204135397G>A	ENST00000272190.8	-	1	53	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	REN_ENST00000367195.2_Missense_Mutation_p.R9C	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	9					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGTCCCCAGCGAGGCATCCTT	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18665	0.0		0.0	False		,,,				2504	0.0					uc001haq.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(25-27)CGC>TGC		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						142.0	131.0	135.0					1																	204135397		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204135397G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.25C>T	1.37:g.204135397G>A	ENSP00000272190:p.Arg9Cys						p.R9C	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		1	69	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		9					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.25C>T	CCDS30981.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.871	1.198913	0.22121	.	.	ENSG00000143839	ENST00000367195;ENST00000272190	T;T	0.61859	0.07;0.07	4.24	2.35	0.29111	.	0.762410	0.12476	N	0.465577	T	0.32823	0.0842	N	0.08118	0	0.24703	N	0.993247	B	0.11235	0.004	B	0.04013	0.001	T	0.15292	-1.0442	10	0.37606	T	0.19	.	6.0567	0.19815	0.2295:0.0:0.7705:0.0	.	9	P00797	RENI_HUMAN	C	9	ENSP00000356163:R9C;ENSP00000272190:R9C	ENSP00000272190:R9C	R	-	1	0	REN	202402020	0.011000	0.17503	0.949000	0.38748	0.641000	0.38312	0.713000	0.25794	1.134000	0.42165	0.484000	0.47621	CGC		0.557	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1		NM_000537		13	78	0	0	0	0.003163	0	13	78		
SLC26A9	115019	broad.mit.edu	37	1	205896660	205896660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:205896660G>C	ENST00000367135.3	-	10	1288	c.1175C>G	c.(1174-1176)tCt>tGt	p.S392C	SLC26A9_ENST00000340781.4_Missense_Mutation_p.S392C|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S392C	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	392					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CAGAGTGACAGAAAGCGCACA	0.517																																						uc001hdq.2		NaN																	0				ovary(1)|skin(1)	2						c.(1174-1176)TCT>TGT		solute carrier family 26, member 9 isoform a							71.0	74.0	73.0					1																	205896660		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205896660G>C	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1175C>G	1.37:g.205896660G>C	ENSP00000356103:p.Ser392Cys					SLC26A9_uc001hdo.2_Missense_Mutation_p.S60C|SLC26A9_uc001hdp.2_Missense_Mutation_p.S392C	p.S392C	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		10	1289	-	Breast(84;0.201)		392			Helical; (Potential).		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.1175C>G	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576636	0.86645	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.94828	-3.53;-3.53;-3.53	5.09	5.09	0.68999	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	M	0.91354	3.2	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.72982	0.964;0.979	D	0.98760	1.0724	10	0.87932	D	0	.	18.4557	0.90720	0.0:0.0:1.0:0.0	.	392;392	Q7LBE3;B1AVM8	S26A9_HUMAN;.	C	392	ENSP00000341682:S392C;ENSP00000356103:S392C;ENSP00000356102:S392C	ENSP00000341682:S392C	S	-	2	0	SLC26A9	204163283	1.000000	0.71417	0.941000	0.38009	0.957000	0.61999	9.596000	0.98267	2.525000	0.85131	0.655000	0.94253	TCT		0.517	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1		NM_052934		11	45	0	0	0	0.010729	0	11	45		
DIEXF	27042	broad.mit.edu	37	1	210014333	210014333	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:210014333C>G	ENST00000491415.2	+	8	1475	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	473					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GACTTTCTGTCTTCTATCGAG	0.483																																						uc001hhr.1		NaN																	0					0						c.(1417-1419)TCT>TGT		digestive-organ expansion factor homolog							121.0	118.0	119.0					1																	210014333		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210014333C>G	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1418C>G	1.37:g.210014333C>G	ENSP00000419005:p.Ser473Cys					C1orf107_uc009xcu.1_Missense_Mutation_p.S188C	p.S473C	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	8	1494	+			473					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1418C>G	CCDS1493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.274678|4.274678	0.80580|0.80580	.|.	.|.	ENSG00000117597|ENSG00000117597	ENST00000457820|ENST00000491415	.|T	.|0.44482	.|0.92	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.110120	.|0.64402	.|D	.|0.000003	T|T	0.71409|0.71409	0.3336|0.3336	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.78383|0.78383	-0.2225|-0.2225	5|10	.|0.87932	.|D	.|0	-14.4719|-14.4719	17.1098|17.1098	0.86672|0.86672	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|473	.|Q68CQ4	.|DIEXF_HUMAN	V|C	154|473	.|ENSP00000419005:S473C	.|ENSP00000419005:S473C	L|S	+|+	1|2	0|0	DIEXF|DIEXF	208080956|208080956	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	7.642000|7.642000	0.83385|0.83385	2.461000|2.461000	0.83175|0.83175	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.483	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2		NM_014388		24	96	0	0	0	0.004656	0	24	96		
INTS7	25896	broad.mit.edu	37	1	212190334	212190334	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:212190334C>T	ENST00000366994.3	-	4	507	c.403G>A	c.(403-405)Gag>Aag	p.E135K	INTS7_ENST00000366992.3_Missense_Mutation_p.E135K|INTS7_ENST00000440600.2_Missense_Mutation_p.E86K|INTS7_ENST00000366993.3_Missense_Mutation_p.E135K|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	135					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTCTTCCTCTCAGGAATTATT	0.398																																						uc001hiw.1		NaN																	0					0						c.(403-405)GAG>AAG		integrator complex subunit 7							160.0	162.0	161.0					1																	212190334		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212190334C>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.403G>A	1.37:g.212190334C>T	ENSP00000355961:p.Glu135Lys					INTS7_uc009xdb.1_Missense_Mutation_p.E135K|INTS7_uc001hix.1_Missense_Mutation_p.E11K|INTS7_uc001hiy.1_Missense_Mutation_p.E135K|INTS7_uc010pta.1_Missense_Mutation_p.E86K	p.E135K	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	4	508	-			135					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.403G>A	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078517	0.94050	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.66995	-0.24;-0.24;-0.24;1.75	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.049351	0.85682	D	0.000000	T	0.71937	0.3399	M	0.71206	2.165	0.80722	D	1	P;P;P;P	0.40534	0.72;0.72;0.72;0.59	B;B;B;B	0.41202	0.35;0.275;0.275;0.275	T	0.74565	-0.3623	10	0.72032	D	0.01	-30.2603	20.5666	0.99351	0.0:1.0:0.0:0.0	.	86;135;135;135	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	K	135;135;135;86	ENSP00000355961:E135K;ENSP00000355960:E135K;ENSP00000355959:E135K;ENSP00000388908:E86K	ENSP00000355959:E135K	E	-	1	0	INTS7	210256957	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.412000	0.80091	2.854000	0.98071	0.655000	0.94253	GAG		0.398	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1		NM_015434		32	123	0	0	0	0.013114	0	32	123		
CENPF	1063	broad.mit.edu	37	1	214815002	214815002	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:214815002G>A	ENST00000366955.3	+	12	3489	c.3321G>A	c.(3319-3321)caG>caA	p.Q1107Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGACAGTGCAGCAAGCTCTGA	0.373																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NaN																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(3319-3321)CAG>CAA		centromere protein F							80.0	82.0	81.0					1																	214815002		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214815002G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3321G>A	1.37:g.214815002G>A							p.Q1107Q	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	3495	+			1107			Potential.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.3321G>A	CCDS31023.1																																																																																				0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343		3	115	0	0	0	0.000602	0	3	115		
TP53BP2	7159	broad.mit.edu	37	1	223983678	223983678	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:223983678C>T	ENST00000343537.7	-	13	2854	c.2563G>A	c.(2563-2565)Gaa>Aaa	p.E855K	TP53BP2_ENST00000391878.2_Missense_Mutation_p.E726K|TP53BP2_ENST00000391879.2_Missense_Mutation_p.E88K|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	849	Pro-rich.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTTGGTTCTTCTGGGTTATTC	0.547																																						uc010pvb.1		NaN																	0				ovary(2)|lung(1)	3						c.(2563-2565)GAA>AAA		tumor protein p53 binding protein, 2 isoform 1							135.0	134.0	135.0					1																	223983678		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223983678C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2563G>A	1.37:g.223983678C>T	ENSP00000341957:p.Glu855Lys					TP53BP2_uc001hod.2_Missense_Mutation_p.E726K|TP53BP2_uc010puz.1_Missense_Mutation_p.E88K|TP53BP2_uc010pva.1_Missense_Mutation_p.E494K	p.E855K	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2855	-			849			Pro-rich.		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.2563G>A	CCDS44319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.35|14.35	2.510131|2.510131	0.44660|0.44660	.|.	.|.	ENSG00000143514|ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879|ENST00000494100	T;T;T|.	0.50001|.	0.84;1.0;0.76|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.200164|.	0.51477|.	D|.	0.000088|.	T|T	0.74405|0.74405	0.3712|0.3712	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	P;P|.	0.39665|.	0.682;0.546|.	B;B|.	0.35182|.	0.197;0.09|.	T|T	0.71833|0.71833	-0.4473|-0.4473	10|5	0.48119|.	T|.	0.1|.	.|.	19.5118|19.5118	0.95144|0.95144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	855;849|.	B4DG66;Q13625|.	.;ASPP2_HUMAN|.	K|K	726;855;88|188	ENSP00000375750:E726K;ENSP00000341957:E855K;ENSP00000375751:E88K|.	ENSP00000341957:E855K|.	E|R	-|-	1|2	0|0	TP53BP2|TP53BP2	222050301|222050301	0.994000|0.994000	0.37717|0.37717	0.188000|0.188000	0.23233|0.23233	0.029000|0.029000	0.11900|0.11900	3.186000|3.186000	0.50942|0.50942	2.634000|2.634000	0.89283|0.89283	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.547	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3		NM_001031685, NM_005426		15	89	0	0	0	0.007413	0	15	89		
RYR2	6262	broad.mit.edu	37	1	237806646	237806646	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:237806646G>C	ENST00000366574.2	+	48	7558	c.7241G>C	c.(7240-7242)gGa>gCa	p.G2414A	RYR2_ENST00000542537.1_Missense_Mutation_p.G2398A|RYR2_ENST00000360064.6_Missense_Mutation_p.G2412A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2414	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCGGGAAGGGAGAAGCCATC	0.413																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7240-7242)GGA>GCA		cardiac muscle ryanodine receptor							197.0	186.0	189.0					1																	237806646		1876	4095	5971	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237806646G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7241G>C	1.37:g.237806646G>C	ENSP00000355533:p.Gly2414Ala						p.G2414A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7361	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2414			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7241G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398452	0.83120	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96745	-4.11;-4.11;-4.11	5.61	4.69	0.59074	.	0.000000	0.64402	D	0.000007	D	0.97929	0.9319	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98688	1.0695	10	0.72032	D	0.01	-11.7702	14.7	0.69150	0.07:0.0:0.93:0.0	.	2414	Q92736	RYR2_HUMAN	A	2414;2412;2398	ENSP00000355533:G2414A;ENSP00000353174:G2412A;ENSP00000443798:G2398A	ENSP00000353174:G2412A	G	+	2	0	RYR2	235873269	1.000000	0.71417	0.969000	0.41365	0.944000	0.59088	9.813000	0.99286	1.505000	0.48720	0.655000	0.94253	GGA		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		37	139	0	0	0	0.01441	0	37	139		
OR2L13	284521	broad.mit.edu	37	1	248263467	248263467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:248263467C>T	ENST00000358120.2	+	2	935	c.790C>T	c.(790-792)Ctc>Ttc	p.L264F	OR2L13_ENST00000366478.2_Missense_Mutation_p.L264F			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L264I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCCAGGAATCTCCGCTCACC	0.468																																						uc001ids.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(790-792)CTC>TTC		olfactory receptor, family 2, subfamily L,							119.0	118.0	118.0					1																	248263467		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263467C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.790C>T	1.37:g.248263467C>T	ENSP00000350836:p.Leu264Phe						p.L264F	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	1127	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		264			Extracellular (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.790C>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	0.219	-1.030068	0.02045	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00123	8.7;8.7	4.21	-0.155	0.13395	GPCR, rhodopsin-like superfamily (1);	0.207905	0.22233	N	0.062800	T	0.00109	0.0003	L	0.60455	1.87	0.09310	N	1	B	0.12013	0.005	B	0.21546	0.035	T	0.43798	-0.9369	10	0.30854	T	0.27	.	1.1183	0.01719	0.2503:0.3243:0.2543:0.171	.	264	Q8N349	OR2LD_HUMAN	F	264	ENSP00000355434:L264F;ENSP00000350836:L264F	ENSP00000350836:L264F	L	+	1	0	OR2L13	246330090	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	-0.896000	0.04114	0.081000	0.16988	-0.749000	0.03505	CTC		0.468	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1		NM_175911		37	88	0	0	0	0.011902	0	37	88		
ZNF672	79894	broad.mit.edu	37	1	249142668	249142668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:249142668G>C	ENST00000306562.3	+	4	1941	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGAGTGCGCAGAGTGCGGCAA	0.682																																						uc001iex.2		NaN																	0					0						c.(1195-1197)GAG>CAG		zinc finger protein 672							17.0	16.0	16.0					1																	249142668		2194	4292	6486	SO:0001583	missense	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142668G>C	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.1195G>C	1.37:g.249142668G>C	ENSP00000421915:p.Glu399Gln						p.E399Q	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1890	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	399			C2H2-type 14.		Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	c.1195G>C	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	G	3.244	-0.154822	0.06544	.	.	ENSG00000171161	ENST00000306562	T	0.07444	3.19	3.63	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.215131	0.23127	N	0.051630	T	0.04815	0.0130	N	0.21324	0.655	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.42275	-0.9461	9	.	.	.	.	6.2301	0.20730	0.1115:0.1916:0.6969:0.0	.	399	Q499Z4	ZN672_HUMAN	Q	399	ENSP00000421915:E399Q	.	E	+	1	0	ZNF672	247109291	0.000000	0.05858	0.064000	0.19789	0.445000	0.32107	-0.017000	0.12590	0.318000	0.23185	0.561000	0.74099	GAG		0.682	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2		NM_024836		6	10	0	0	0	0.001168	0	6	10		
ANKRD16	54522	broad.mit.edu	37	10	5925115	5925115	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:5925115C>T	ENST00000380094.5	-	5	1246	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	ANKRD16_ENST00000380092.4_Missense_Mutation_p.E235K|ANKRD16_ENST00000191063.8_Missense_Mutation_p.E235K	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	235										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						AGGCTGTCTTCTGCTGAAAGG	0.542																																						uc010qat.1		NaN																	0					0						c.(703-705)GAA>AAA		ankyrin repeat domain 16 isoform a							62.0	50.0	54.0					10																	5925115		2203	4300	6503	SO:0001583	missense	54522							g.chr10:5925115C>T	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.703G>A	10.37:g.5925115C>T	ENSP00000369436:p.Glu235Lys					ANKRD16_uc009xie.2_Missense_Mutation_p.E235K|ANKRD16_uc009xif.2_Missense_Mutation_p.E235K|ANKRD16_uc001iiq.2_Missense_Mutation_p.E235K	p.E235K	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN			5	1246	-			235					A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	c.703G>A	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	C	1.216	-0.628263	0.03610	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.62941	-0.01;-0.01;-0.01	5.03	0.181	0.15073	Ankyrin repeat-containing domain (4);	1.036540	0.07568	N	0.918124	T	0.28034	0.0691	N	0.02802	-0.49	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.11329	0.006;0.004;0.001	T	0.30238	-0.9985	10	0.02654	T	1	-2.7064	2.7817	0.05362	0.1206:0.4376:0.2553:0.1866	.	235;235;235	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	K	235	ENSP00000369436:E235K;ENSP00000369434:E235K;ENSP00000352361:E235K	ENSP00000352361:E235K	E	-	1	0	ANKRD16	5965121	0.000000	0.05858	0.001000	0.08648	0.637000	0.38172	0.254000	0.18314	0.207000	0.20607	0.558000	0.71614	GAA		0.542	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2		XM_166138		6	31	0	0	0	0.006214	0	6	31		
FBXO18	84893	broad.mit.edu	37	10	5945065	5945065	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:5945065C>A	ENST00000362091.4	+	2	199	c.84C>A	c.(82-84)ttC>ttA	p.F28L	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000379999.5_Missense_Mutation_p.F79L	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	28					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCCAGCCCTTCGGTCAAAGAT	0.488																																						uc001iis.2		NaN																	0				ovary(2)|skin(1)	3						c.(82-84)TTC>TTA		F-box only protein, helicase, 18 isoform 2							97.0	87.0	90.0					10																	5945065		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5945065C>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.84C>A	10.37:g.5945065C>A	ENSP00000355415:p.Phe28Leu					FBXO18_uc001iir.2_5'UTR|FBXO18_uc009xig.2_5'UTR|FBXO18_uc001iit.2_Missense_Mutation_p.F79L	p.F28L	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			2	179	+			28					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.84C>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	2.752	-0.259874	0.05791	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.29	1.83	0.25207	.	0.354105	0.32134	N	0.006526	T	0.39145	0.1067	L	0.37630	1.12	0.80722	D	1	B;B	0.18741	0.03;0.006	B;B	0.10450	0.005;0.002	T	0.11518	-1.0584	9	0.29301	T	0.29	-21.8501	3.9557	0.09388	0.1376:0.569:0.1203:0.1731	.	79;28	Q8NFZ0-2;Q8NFZ0	.;FBX18_HUMAN	L	28;79	.	ENSP00000355415:F28L	F	+	3	2	FBXO18	5985071	0.498000	0.26075	0.776000	0.31678	0.022000	0.10575	0.777000	0.26718	0.533000	0.28675	-1.058000	0.02302	TTC		0.488	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1		NM_032807		26	40	1	0	1.99505e-19	0.012213	2.28062e-19	26	40		
TRDMT1	1787	broad.mit.edu	37	10	17195630	17195630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:17195630C>G	ENST00000377799.3	-	10	998	c.951G>C	c.(949-951)gaG>gaC	p.E317D	TRDMT1_ENST00000412821.3_Missense_Mutation_p.E293D|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.E236D|TRDMT1_ENST00000488990.1_Missense_Mutation_p.E194D|TRDMT1_ENST00000351358.4_Missense_Mutation_p.E271D|TRDMT1_ENST00000377766.5_3'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	317	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TGTAGATATTCTCAACCTGTA	0.333																																						uc001iop.2		NaN																	0				ovary(1)	1						c.(949-951)GAG>GAC		tRNA aspartic acid methyltransferase 1 isoform							98.0	94.0	96.0					10																	17195630		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17195630C>G	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.951G>C	10.37:g.17195630C>G	ENSP00000367030:p.Glu317Asp					TRDMT1_uc001ioq.2_Missense_Mutation_p.E293D|TRDMT1_uc001ior.2_Missense_Mutation_p.E271D|TRDMT1_uc001ios.2_Missense_Mutation_p.E246D|TRDMT1_uc009xjt.2_Missense_Mutation_p.E236D|TRDMT1_uc010qcc.1_Missense_Mutation_p.E246D|TRDMT1_uc010qcd.1_Missense_Mutation_p.E194D	p.E317D	NM_004412	NP_004403	O14717	TRDMT_HUMAN			10	999	-			317					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	c.951G>C	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	C	7.669	0.686535	0.14973	.	.	ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000488990	T;T;T;T;T	0.64618	1.27;1.27;1.27;1.27;-0.11	5.62	-0.525	0.11917	.	0.101544	0.64402	D	0.000003	T	0.42630	0.1211	N	0.16266	0.395	0.80722	D	1	B;B;P;P;B;B	0.39131	0.228;0.002;0.641;0.661;0.004;0.005	B;B;B;B;B;B	0.43680	0.024;0.007;0.427;0.272;0.004;0.01	T	0.09975	-1.0650	10	0.27082	T	0.32	-21.8887	5.9366	0.19169	0.1415:0.2857:0.0:0.5727	.	194;246;236;271;293;317	B7Z8H2;B7Z1Y7;E7EMI8;O14717-3;O14717-2;O14717	.;.;.;.;.;TRDMT_HUMAN	D	317;293;271;236;194	ENSP00000367030:E317D;ENSP00000409354:E293D;ENSP00000324328:E271D;ENSP00000412256:E236D;ENSP00000419625:E194D	ENSP00000324328:E271D	E	-	3	2	TRDMT1	17235636	0.000000	0.05858	0.071000	0.20095	0.278000	0.26855	-0.311000	0.08124	-0.062000	0.13088	-0.145000	0.13849	GAG		0.333	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3		NM_004412		4	18	0	0	0	0.001168	0	4	18		
MLLT10	8028	broad.mit.edu	37	10	21962735	21962735	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:21962735C>G	ENST00000307729.7	+	11	1686	c.1508C>G	c.(1507-1509)tCt>tGt	p.S503C	MLLT10_ENST00000446906.2_Missense_Mutation_p.S503C|MLLT10_ENST00000377072.3_Missense_Mutation_p.S503C|MLLT10_ENST00000377059.3_Missense_Mutation_p.S503C			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	503	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCAACATCATCTGTAGCATCA	0.433			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2		NaN		Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		0				lung(1)|skin(1)	2						c.(1507-1509)TCT>TGT		myeloid/lymphoid or mixed-lineage leukemia							94.0	93.0	93.0					10																	21962735		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962735C>G	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1508C>G	10.37:g.21962735C>G	ENSP00000307411:p.Ser503Cys					MLLT10_uc001iqt.2_Missense_Mutation_p.S503C|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S503C|MLLT10_uc001ira.2_Translation_Start_Site|MLLT10_uc001irb.2_RNA|MLLT10_uc001iqz.2_Missense_Mutation_p.S258C	p.S503C	NM_004641	NP_004632	P55197	AF10_HUMAN			11	1856	+			503			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1508C>G	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.54|17.54	3.414113|3.414113	0.62511|0.62511	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000420525|ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	.|T;T;T;T	.|0.18174	.|2.32;2.23;2.23;2.23	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.472817	.|0.24087	.|N	.|0.041679	T|T	0.41488|0.41488	0.1161|0.1161	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.89917	.|0.999;0.999;0.997;1.0	.|D;D;D;D	.|0.81914	.|0.994;0.993;0.981;0.995	T|T	0.13388|0.13388	-1.0511|-1.0511	5|10	.|0.66056	.|D	.|0.02	.|.	19.4007|19.4007	0.94629|0.94629	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|349;503;503;503	.|F5H541;E9PBP4;Q5VX90;P55197	.|.;.;.;AF10_HUMAN	V|C	77|503;503;503;349;503;146;145	.|ENSP00000366272:S503C;ENSP00000401406:S503C;ENSP00000307411:S503C;ENSP00000366258:S503C	.|ENSP00000307411:S503C	L|S	+|+	1|2	2|0	MLLT10|MLLT10	22002741|22002741	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	6.223000|6.223000	0.72257|0.72257	2.600000|2.600000	0.87896|0.87896	0.585000|0.585000	0.79938|0.79938	CTG|TCT		0.433	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1				27	76	0	0	0	0.008361	0	27	76		
RBP3	5949	broad.mit.edu	37	10	48389845	48389845	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:48389845C>T	ENST00000224600.4	-	1	1146	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	345	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCACACGGTCCACCAGCGTG	0.637																																						uc001jez.2		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1033-1035)GAC>AAC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						41.0	40.0	40.0					10																	48389845		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389845C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1033G>A	10.37:g.48389845C>T	ENSP00000224600:p.Asp345Asn						p.D345N	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1147	-			345			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1033G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858750	0.71834	.	.	ENSG00000107618	ENST00000224600	T	0.66638	-0.22	5.43	4.5	0.54988	.	0.229558	0.42548	D	0.000697	D	0.84129	0.5404	M	0.91406	3.205	0.44477	D	0.997418	D	0.71674	0.998	D	0.78314	0.991	D	0.87123	0.2192	10	0.87932	D	0	-38.2856	12.4045	0.55432	0.0:0.9155:0.0:0.0845	.	345	P10745	RET3_HUMAN	N	345	ENSP00000224600:D345N	ENSP00000224600:D345N	D	-	1	0	RBP3	48009851	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	5.483000	0.66838	1.267000	0.44247	0.561000	0.74099	GAC		0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1		NM_002900		11	53	0	0	0	0.010729	0	11	53		
OGDHL	55753	broad.mit.edu	37	10	50966537	50966537	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:50966537G>A	ENST00000374103.4	-	2	187	c.102C>T	c.(100-102)tcC>tcT	p.S34S	OGDHL_ENST00000419399.1_Silent_p.S34S|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	34					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCGGTGGCCCGGAGGACCTGC	0.632																																						uc001jie.2		NaN																	0				pancreas(1)	1						c.(100-102)TCC>TCT		oxoglutarate dehydrogenase-like isoform a							47.0	48.0	47.0					10																	50966537		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50966537G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.102C>T	10.37:g.50966537G>A						OGDHL_uc009xog.2_Silent_p.S61S|OGDHL_uc010qgt.1_Silent_p.S34S|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_Intron	p.S34S	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			2	244	-			34					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.102C>T	CCDS7234.1																																																																																				0.632	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1		NM_018245		17	27	0	0	0	0.007413	0	17	27		
LRRTM3	347731	broad.mit.edu	37	10	68687370	68687370	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:68687370G>A	ENST00000361320.4	+	2	1274	c.696G>A	c.(694-696)caG>caA	p.Q232Q	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	232					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TCAGCCTTCAGAACCTTTACT	0.453																																						uc001jmz.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(694-696)CAG>CAA		leucine rich repeat transmembrane neuronal 3							85.0	86.0	86.0					10																	68687370		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68687370G>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.696G>A	10.37:g.68687370G>A						CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.Q232Q	p.Q232Q	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1246	+			232			Extracellular (Potential).|LRR 8.		A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.696G>A	CCDS7270.1																																																																																				0.453	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2		NM_178011		31	69	0	0	0	0.003271	0	31	69		
PALD1	27143	broad.mit.edu	37	10	72324122	72324122	+	Silent	SNP	G	G	A	rs200907930		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:72324122G>A	ENST00000263563.6	+	19	2533	c.2265G>A	c.(2263-2265)gcG>gcA	p.A755A		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	755						cytosol (GO:0005829)											TCCTCCAGGCGAAGGCAGCGA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		21771	0.001		0.0	False		,,,				2504	0.0					uc001jrd.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2263-2265)GCG>GCA		KIAA1274							65.0	64.0	64.0					10																	72324122		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72324122G>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.2265G>A	10.37:g.72324122G>A						KIAA1274_uc001jre.3_Silent_p.A46A	p.A755A	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			19	2546	+			755					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.2265G>A	CCDS31215.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	g	0.014	-1.590386	0.00864	.	.	ENSG00000107719	ENST00000426268	.	.	.	4.9	-8.42	0.00957	.	.	.	.	.	T	0.37293	0.0998	.	.	.	0.48901	D	0.999727	.	.	.	.	.	.	T	0.41928	-0.9481	4	.	.	.	-23.5025	4.0211	0.09665	0.3809:0.1619:0.3756:0.0816	.	.	.	.	K	136	.	.	E	+	1	0	KIAA1274	71994128	0.000000	0.05858	0.203000	0.23512	0.229000	0.25112	-3.931000	0.00332	-1.771000	0.01293	-2.963000	0.00082	GAA		0.617	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2		NM_014431		30	56	0	0	0	0.004878	0	30	56		
SLC29A3	55315	broad.mit.edu	37	10	73111520	73111520	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:73111520G>C	ENST00000373189.5	+	4	637	c.585G>C	c.(583-585)atG>atC	p.M195I	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	195					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTTTCCTATGAGGAACTCCC	0.577																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	uc001jrr.3		NaN																	0					0						c.(583-585)ATG>ATC		solute carrier family 29 (nucleoside							58.0	49.0	52.0					10																	73111520		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73111520G>C	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.585G>C	10.37:g.73111520G>C	ENSP00000362285:p.Met195Ile					SLC29A3_uc001jrs.3_Missense_Mutation_p.M195I|SLC29A3_uc010qjq.1_Missense_Mutation_p.M49I|SLC29A3_uc001jrt.3_Intron|SLC29A3_uc001jru.3_Missense_Mutation_p.M7I	p.M195I	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN			4	642	+			195			Cytoplasmic (Potential).		B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.585G>C	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739932	0.69304	.	.	ENSG00000198246	ENST00000373189	T	0.62498	0.02	5.83	5.83	0.93111	.	0.040310	0.85682	D	0.000000	T	0.70360	0.3215	M	0.72894	2.215	0.44424	D	0.997346	P	0.39003	0.654	P	0.45946	0.498	T	0.68364	-0.5428	9	0.33940	T	0.23	-53.1297	18.2887	0.90122	0.0:0.0:1.0:0.0	.	195	Q9BZD2	S29A3_HUMAN	I	195	ENSP00000362285:M195I	ENSP00000362285:M195I	M	+	3	0	SLC29A3	72781526	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	6.467000	0.73547	2.764000	0.94973	0.555000	0.69702	ATG		0.577	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1		NM_018344		10	17	0	0	0	0.00245	0	10	17		
CDH23	64072	broad.mit.edu	37	10	73464806	73464806	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:73464806A>G	ENST00000224721.6	+	24	2892	c.2887A>G	c.(2887-2889)Atc>Gtc	p.I963V	CDH23_ENST00000299366.7_Missense_Mutation_p.I1003V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	958	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCGAGCGCATCGCGGAGTA	0.677																																						uc001jrx.3		NaN																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(2872-2874)ATC>GTC		cadherin-like 23 isoform 1 precursor							40.0	43.0	42.0					10																	73464806		2087	4190	6277	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73464806A>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2887A>G	10.37:g.73464806A>G	ENSP00000224721:p.Ile963Val					CDH23_uc001jry.2_Missense_Mutation_p.I574V|CDH23_uc001jrz.2_Missense_Mutation_p.I574V	p.I958V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			24	3249	+			958			Cadherin 9.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.2872A>G		.	.	.	.	.	.	.	.	.	.	A	13.81	2.346863	0.41599	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.5	4.37	0.52481	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.31358	0.0794	N	0.11698	0.16	0.80722	D	1	B;B;B	0.28026	0.198;0.001;0.0	B;B;B	0.28011	0.085;0.001;0.003	T	0.06499	-1.0823	9	0.12430	T	0.62	.	11.0972	0.48152	0.9275:0.0:0.0725:0.0	.	958;961;958	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	V	963;958;958;961;961;475	.	ENSP00000224721:I963V	I	+	1	0	CDH23	73134812	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.345000	0.65987	0.928000	0.37168	0.459000	0.35465	ATC		0.677	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4		NM_052836		18	41	0	0	0	0.014323	0	18	41		
HPSE2	60495	broad.mit.edu	37	10	100249921	100249921	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:100249921C>G	ENST00000370552.3	-	10	1412	c.1353G>C	c.(1351-1353)ctG>ctC	p.L451L	HPSE2_ENST00000370549.1_Silent_p.L393L|HPSE2_ENST00000370546.1_Silent_p.L451L|HPSE2_ENST00000404542.1_Silent_p.L339L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	451					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TGGGGCCGATCAGGCGCTTGT	0.557																																						uc001kpn.1		NaN																	0				ovary(1)	1						c.(1351-1353)CTG>CTC		heparanase 2							82.0	83.0	83.0					10																	100249921		2203	4300	6503	SO:0001819	synonymous_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100249921C>G	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1353G>C	10.37:g.100249921C>G						HPSE2_uc009xwc.1_Silent_p.L441L|HPSE2_uc001kpo.1_Silent_p.L383L|HPSE2_uc009xwd.1_Silent_p.L329L	p.L451L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	10	1413	-			451					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	c.1353G>C	CCDS7477.1																																																																																				0.557	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1		NM_021828		42	67	0	0	0	0.01441	0	42	67		
MGEA5	10724	broad.mit.edu	37	10	103567511	103567511	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:103567511C>T	ENST00000361464.3	-	5	1023	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	MGEA5_ENST00000357797.5_Missense_Mutation_p.E210K|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.E210K|MGEA5_ENST00000439817.1_Missense_Mutation_p.E210K	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	210					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		AGGAAAGTTTCTGGCTCTCCT	0.393																																						uc001ktv.2		NaN																	0				ovary(2)|skin(1)	3						c.(628-630)GAA>AAA		meningioma expressed antigen 5 (hyaluronidase)							128.0	132.0	131.0					10																	103567511		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103567511C>T	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.628G>A	10.37:g.103567511C>T	ENSP00000354850:p.Glu210Lys					MGEA5_uc010qqe.1_Missense_Mutation_p.E210K|MGEA5_uc009xws.2_Missense_Mutation_p.E210K|MGEA5_uc001ktw.2_Missense_Mutation_p.E210K|MGEA5_uc009xwt.2_Missense_Mutation_p.E68K|MGEA5_uc010qqf.1_RNA	p.E210K	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	5	1071	-		Colorectal(252;0.207)	210					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.628G>A	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454753	0.63290	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.28666	1.62;1.61;1.62;1.6	5.35	5.35	0.76521	Glycoside hydrolase, superfamily (1);	0.044614	0.85682	D	0.000000	T	0.11750	0.0286	N	0.00783	-1.19	0.80722	D	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.15052	0.012;0.007;0.007;0.007	T	0.26189	-1.0110	10	0.08837	T	0.75	-21.558	19.4341	0.94783	0.0:1.0:0.0:0.0	.	210;210;210;210	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	K	210;210;210;210;158	ENSP00000409973:E210K;ENSP00000354850:E210K;ENSP00000350445:E210K;ENSP00000359112:E210K	ENSP00000350445:E210K	E	-	1	0	MGEA5	103557501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.720000	0.61944	2.674000	0.91012	0.591000	0.81541	GAA		0.393	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1		NM_012215		18	114	0	0	0	0.012319	0	18	114		
PPRC1	23082	broad.mit.edu	37	10	103906708	103906708	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:103906708G>C	ENST00000278070.2	+	9	3998	c.3959G>C	c.(3958-3960)cGa>cCa	p.R1320P	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R287P|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTGGGCTCCCGATGGAATGTC	0.607																																						uc001kum.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3958-3960)CGA>CCA		peroxisome proliferator-activated receptor							58.0	57.0	58.0					10																	103906708		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906708G>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3959G>C	10.37:g.103906708G>C	ENSP00000278070:p.Arg1320Pro					PPRC1_uc001kun.2_Missense_Mutation_p.R1200P|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	p.R1320P	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	3998	+		Colorectal(252;0.122)	1320					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3959G>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368465	0.82463	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.56275	0.77;0.47	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.965	T	0.74432	-0.3667	10	0.87932	D	0	.	19.7135	0.96105	0.0:0.0:1.0:0.0	.	1200;1320	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	P	1320;287	ENSP00000278070:R1320P;ENSP00000359029:R287P	ENSP00000278070:R1320P	R	+	2	0	PPRC1	103896698	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.433000	0.80362	2.665000	0.90641	0.462000	0.41574	CGA		0.607	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		11	42	0	0	0	0.010729	0	11	42		
PPRC1	23082	broad.mit.edu	37	10	103908426	103908426	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:103908426G>C	ENST00000278070.2	+	11	4631	c.4592G>C	c.(4591-4593)aGa>aCa	p.R1531T	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Missense_Mutation_p.R498T|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1267T	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1531	Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAAAGGCAAAGAGTGCTACAA	0.493																																						uc001kum.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4591-4593)AGA>ACA		peroxisome proliferator-activated receptor							181.0	164.0	170.0					10																	103908426		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908426G>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4592G>C	10.37:g.103908426G>C	ENSP00000278070:p.Arg1531Thr					PPRC1_uc001kun.2_Missense_Mutation_p.R1409T|PPRC1_uc010qqj.1_Missense_Mutation_p.R1267T|PPRC1_uc009xxa.2_RNA	p.R1531T	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	11	4631	+		Colorectal(252;0.122)	1531			Arg-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4592G>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	g	17.91	3.503953	0.64410	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.42900	1.73;0.96;1.33	5.43	4.51	0.55191	Nucleotide-binding, alpha-beta plait (1);	0.235249	0.51477	D	0.000081	T	0.46964	0.1420	L	0.27053	0.805	0.36715	D	0.880862	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69479	0.922;0.964;0.922	T	0.53989	-0.8360	10	0.66056	D	0.02	.	9.842	0.41004	0.2037:0.0:0.7963:0.0	.	1267;1409;1531	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	T	1531;1267;498	ENSP00000278070:R1531T;ENSP00000399743:R1267T;ENSP00000359029:R498T	ENSP00000278070:R1531T	R	+	2	0	PPRC1	103898416	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.255000	0.51484	2.704000	0.92352	0.549000	0.68633	AGA		0.493	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		41	104	0	0	0	0.01441	0	41	104		
PPRC1	23082	broad.mit.edu	37	10	103909067	103909067	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:103909067G>C	ENST00000278070.2	+	13	4911	c.4872G>C	c.(4870-4872)aaG>aaC	p.K1624N	PPRC1_ENST00000370012.1_Missense_Mutation_p.K591N|NOLC1_ENST00000605788.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.K1360N|NOLC1_ENST00000405356.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1624					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTTCTGCAAGAGGAGCTATT	0.557																																						uc001kum.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4870-4872)AAG>AAC		peroxisome proliferator-activated receptor							78.0	81.0	80.0					10																	103909067		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103909067G>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4872G>C	10.37:g.103909067G>C	ENSP00000278070:p.Lys1624Asn					PPRC1_uc001kun.2_Missense_Mutation_p.K1502N|PPRC1_uc010qqj.1_Missense_Mutation_p.K1360N|PPRC1_uc009xxa.2_RNA|NOLC1_uc001kuo.2_5'Flank|NOLC1_uc001kup.2_5'Flank|NOLC1_uc001kuq.2_5'Flank|NOLC1_uc009xxb.1_5'Flank|NOLC1_uc001kur.2_5'Flank	p.K1624N	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	13	4911	+		Colorectal(252;0.122)	1624					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4872G>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	g	14.22	2.470746	0.43942	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.38240	1.49;1.67;1.15	5.49	4.59	0.56863	.	0.146210	0.64402	D	0.000009	T	0.44912	0.1316	L	0.57536	1.79	0.26509	N	0.97462	P;P;P	0.50528	0.86;0.936;0.47	P;P;B	0.51487	0.671;0.543;0.18	T	0.41106	-0.9527	10	0.66056	D	0.02	.	11.3571	0.49621	0.1459:0.0:0.8541:0.0	.	1360;1502;1624	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	N	1624;1360;591	ENSP00000278070:K1624N;ENSP00000399743:K1360N;ENSP00000359029:K591N	ENSP00000278070:K1624N	K	+	3	2	PPRC1	103899057	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	0.488000	0.22371	1.322000	0.45245	0.442000	0.29010	AAG		0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		28	65	0	0	0	0.008361	0	28	65		
CALHM2	51063	broad.mit.edu	37	10	105207266	105207266	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:105207266G>C	ENST00000260743.5	-	4	1138	c.615C>G	c.(613-615)ctC>ctG	p.L205L	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'Flank|CALHM2_ENST00000369788.3_Silent_p.L205L	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	205					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						AGTAATGCTTGAGGCACTTGG	0.617																																						uc001kwz.2		NaN																	0				skin(1)	1						c.(613-615)CTC>CTG		calcium homeostasis modulator 2							44.0	43.0	44.0					10																	105207266		2203	4300	6503	SO:0001819	synonymous_variant	51063					integral to membrane		g.chr10:105207266G>C	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.615C>G	10.37:g.105207266G>C						CALHM2_uc001kxa.2_Silent_p.L205L|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Silent_p.L205L	p.L205L	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			3	1001	-			205			Helical; (Potential).		D3DR94|O95893|Q6ZUV9	Silent	SNP	ENST00000260743.5	37	c.615C>G	CCDS7549.1																																																																																				0.617	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1		NM_015916		3	38	0	0	0	0.009096	0	3	38		
COL17A1	1308	broad.mit.edu	37	10	105819447	105819447	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:105819447C>G	ENST00000353479.5	-	15	1461	c.1171G>C	c.(1171-1173)Gaa>Caa	p.E391Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.E391Q|COL17A1_ENST00000393211.3_Missense_Mutation_p.E391Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	391	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTTGCTTTTCTTTTTTTAGG	0.438																																						uc001kxr.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(1171-1173)GAA>CAA		alpha 1 type XVII collagen							177.0	164.0	168.0					10																	105819447		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105819447C>G	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1171G>C	10.37:g.105819447C>G	ENSP00000340937:p.Glu391Gln					COL17A1_uc010qqv.1_Missense_Mutation_p.E375Q	p.E391Q	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	15	1340	-		Colorectal(252;0.103)|Breast(234;0.122)	391			Cytoplasmic (Potential).|Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.1171G>C	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901380	0.72754	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	D;D;T	0.93133	-3.16;-3.17;0.31	5.6	5.6	0.85130	.	0.140221	0.32147	N	0.006504	D	0.95265	0.8464	M	0.61703	1.905	0.53688	D	0.999978	D;D	0.61080	0.989;0.981	P;P	0.55923	0.787;0.617	D	0.95400	0.8489	10	0.72032	D	0.01	-22.0358	19.2019	0.93714	0.0:1.0:0.0:0.0	.	391;391	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	Q	391;391;375;391	ENSP00000340937:E391Q;ENSP00000358748:E391Q;ENSP00000376905:E391Q	ENSP00000340937:E391Q	E	-	1	0	COL17A1	105809437	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.206000	0.65192	2.644000	0.89710	0.643000	0.83706	GAA		0.438	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1		NM_130778, NM_000494		19	38	0	0	0	0.014323	0	19	38		
SORCS3	22986	broad.mit.edu	37	10	107007054	107007054	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:107007054G>C	ENST00000369701.3	+	22	3297	c.3070G>C	c.(3070-3072)Gat>Cat	p.D1024H	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1024					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGGAGAAAAGATATTGGCAA	0.383																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NaN																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(3070-3072)GAT>CAT		VPS10 domain receptor protein SORCS 3 precursor							131.0	126.0	128.0					10																	107007054		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107007054G>C	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3070G>C	10.37:g.107007054G>C	ENSP00000358715:p.Asp1024His					SORCS3_uc010qqz.1_RNA	p.D1024H	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	22	3297	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1024			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3070G>C	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872351	0.91587	.	.	ENSG00000156395	ENST00000369701	T	0.21932	1.98	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.55604	-0.8115	9	.	.	.	.	19.7426	0.96238	0.0:0.0:1.0:0.0	.	1024	Q9UPU3	SORC3_HUMAN	H	1024	ENSP00000358715:D1024H	.	D	+	1	0	SORCS3	106997044	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.174000	0.94824	2.741000	0.93983	0.650000	0.86243	GAT		0.383	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1		NM_014978		24	46	0	0	0	0.009535	0	24	46		
FOXI2	399823	broad.mit.edu	37	10	129537070	129537070	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:129537070G>A	ENST00000388920.4	+	2	837	c.798G>A	c.(796-798)ctG>ctA	p.L266L		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	266					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CCGGGGGCCTGGCGGGCGACT	0.701																																					Esophageal Squamous(54;1038 1280 2528 31583)	uc009yas.2		NaN																	0					0						c.(796-798)CTG>CTA		forkhead box I2							7.0	9.0	8.0					10																	129537070		2157	4247	6404	SO:0001819	synonymous_variant	399823				epidermal cell fate specification|otic placode formation|pattern specification process|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 activator activity|transcription factor binding	g.chr10:129537070G>A	AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"""Forkhead boxes"""	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.798G>A	10.37:g.129537070G>A						uc009yar.1_5'Flank	p.L266L	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN			2	798	+		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)	266						Silent	SNP	ENST00000388920.4	37	c.798G>A	CCDS7655.2																																																																																				0.701	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2		NM_207426		4	3	0	0	0	0.001168	0	4	3		
INPP5A	3632	broad.mit.edu	37	10	134459392	134459392	+	Silent	SNP	G	G	A	rs375941297		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:134459392G>A	ENST00000368594.3	+	3	415	c.138G>A	c.(136-138)ccG>ccA	p.P46P	INPP5A_ENST00000368593.3_Silent_p.P46P	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	46					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CACACAAGCCGCACTTCATGG	0.612																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2		NaN																	0				skin(1)	1						c.(136-138)CCG>CCA		inositol polyphosphate-5-phosphatase A		G		1,4405	2.1+/-5.4	0,1,2202	143.0	86.0	105.0		138	-8.6	0.8	10		105	0,8600		0,0,4300	no	coding-synonymous	INPP5A	NM_005539.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		46/413	134459392	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134459392G>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.138G>A	10.37:g.134459392G>A						INPP5A_uc001llo.1_Silent_p.P46P|INPP5A_uc001llq.2_5'UTR	p.P46P	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	3	386	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	46					D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	c.138G>A	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	10.77	1.445134	0.25987	2.27E-4	0.0	ENSG00000068383	ENST00000342652	.	.	.	4.31	-8.63	0.00878	.	.	.	.	.	T	0.33352	0.0860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39742	-0.9599	4	.	.	.	-3.1627	1.242	0.01965	0.217:0.3512:0.1513:0.2806	.	.	.	.	T	18	.	.	A	+	1	0	INPP5A	134309382	0.047000	0.20315	0.799000	0.32177	0.987000	0.75469	-1.093000	0.03362	-1.661000	0.01484	-0.137000	0.14449	GCA		0.612	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1		NM_005539		20	34	0	0	0	0.007291	0	20	34		
MUC6	4588	broad.mit.edu	37	11	1028937	1028937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:1028937C>T	ENST00000421673.2	-	12	1455	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	469	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGACCACCTCGTCCTGAGAG	0.627																																						uc001lsw.2		NaN																	0				ovary(1)	1						c.(1405-1407)GAG>AAG		mucin 6, gastric							89.0	100.0	96.0					11																	1028937		2113	4236	6349	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028937C>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1405G>A	11.37:g.1028937C>T	ENSP00000406861:p.Glu469Lys						p.E469K	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1456	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	469			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1405G>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575118	0.28092	.	.	ENSG00000184956	ENST00000421673	T	0.57595	0.39	4.19	3.25	0.37280	von Willebrand factor, type D domain (3);	0.000000	0.30920	U	0.008617	T	0.30572	0.0769	N	0.12746	0.255	0.09310	N	1	P	0.51537	0.946	B	0.41174	0.349	T	0.14090	-1.0485	10	0.38643	T	0.18	.	9.0422	0.36325	0.0:0.8949:0.0:0.1051	.	469	Q6W4X9	MUC6_HUMAN	K	469	ENSP00000406861:E469K	ENSP00000406861:E469K	E	-	1	0	MUC6	1018937	0.057000	0.20700	0.509000	0.27700	0.133000	0.20885	2.177000	0.42509	2.075000	0.62263	0.313000	0.20887	GAG		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540		33	49	0	0	0	0.013114	0	33	49		
HIPK3	10114	broad.mit.edu	37	11	33370177	33370177	+	Nonsense_Mutation	SNP	C	C	T	rs150770633		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:33370177C>T	ENST00000303296.4	+	13	2784	c.2479C>T	c.(2479-2481)Cag>Tag	p.Q827*	HIPK3_ENST00000456517.1_Nonsense_Mutation_p.Q806*|HIPK3_ENST00000525975.1_Nonsense_Mutation_p.Q806*|HIPK3_ENST00000379016.3_Nonsense_Mutation_p.Q806*	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	827	Interaction with AR. {ECO:0000250}.|Interaction with FAS. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ACAGGACAATCAGAACTCAGA	0.378																																						uc001mul.1		NaN																	0				large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(2479-2481)CAG>TAG		homeodomain interacting protein kinase 3 isoform							77.0	76.0	77.0					11																	33370177		2202	4298	6500	SO:0001587	stop_gained	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33370177C>T	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2479C>T	11.37:g.33370177C>T	ENSP00000304226:p.Gln827*					HIPK3_uc001mum.1_Nonsense_Mutation_p.Q806*|HIPK3_uc009yjv.1_Nonsense_Mutation_p.Q806*	p.Q827*	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			13	2749	+			827			Interaction with FAS (By similarity).|Interaction with AR (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Nonsense_Mutation	SNP	ENST00000303296.4	37	c.2479C>T	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119070	0.94385	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	.	.	.	6.05	6.05	0.98169	.	0.371676	0.26193	N	0.025784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	.	.	.	X	806;827;806;806	.	ENSP00000304226:Q827X	Q	+	1	0	HIPK3	33326753	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	3.103000	0.50298	2.866000	0.98385	0.650000	0.86243	CAG		0.378	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1		NM_005734		36	42	0	0	0	0.00623	0	36	42		
OR5M8	219484	broad.mit.edu	37	11	56258214	56258214	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:56258214G>A	ENST00000327216.2	-	1	657	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TACATATGATGAAGAGAGAAA	0.433																																						uc001nix.1		NaN																	0				central_nervous_system(1)	1						c.(631-633)TTC>TTT		olfactory receptor, family 5, subfamily M,							55.0	57.0	56.0					11																	56258214		2201	4296	6497	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258214G>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.633C>T	11.37:g.56258214G>A							p.F211F	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	633	-	Esophageal squamous(21;0.00352)		211			Helical; Name=5; (Potential).		B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.633C>T	CCDS31533.1																																																																																				0.433	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1		NM_001005282		8	69	0	0	0	0.004482	0	8	69		
GLYATL1	92292	broad.mit.edu	37	11	58711103	58711103	+	5'UTR	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:58711103G>A	ENST00000317391.4	+	0	262				GLYATL1_ENST00000300079.5_Missense_Mutation_p.V38M|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1							mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ggatccaattgtgtccattga	0.478																																						uc001nnf.2		NaN																	0				ovary(1)	1						c.(-80--76)TTGTG>TTATG		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						73.0	65.0	68.0					11																	58711103		2201	4295	6496	SO:0001623	5_prime_UTR_variant	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58711103G>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.-79G>A	11.37:g.58711103G>A						uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.V38M|GLYATL1_uc001nni.1_Translation_Start_Site|GLYATL1_uc001nnj.1_Translation_Start_Site				Q969I3	GLYL1_HUMAN			3	298	+								A6NDT0|Q7Z510|Q8NAW8	Translation_Start_Site	SNP	ENST00000317391.4	37	c.-78G>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	0.754	-0.771800	0.02951	.	.	ENSG00000166840	ENST00000526351;ENST00000300079	T;T	0.52983	0.64;2.0	0.113	0.113	0.14631	.	.	.	.	.	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	B	0.33964	0.434	B	0.31390	0.129	T	0.19647	-1.0299	8	0.13108	T	0.6	.	.	.	.	.	38	Q969I3-2	.	M	30;38	ENSP00000434652:V30M;ENSP00000300079:V38M	ENSP00000300079:V38M	V	+	1	0	GLYATL1	58467679	0.008000	0.16893	0.009000	0.14445	0.009000	0.06853	0.251000	0.18257	0.183000	0.20059	0.186000	0.17326	GTG		0.478	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1		NM_080661		9	56	0	0	0	0.010729	0	9	56		
TCN1	6947	broad.mit.edu	37	11	59623355	59623355	+	Missense_Mutation	SNP	G	G	C	rs146250932	byFrequency	TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:59623355G>C	ENST00000257264.3	-	6	1028	c.924C>G	c.(922-924)tgC>tgG	p.C308W	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	308	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGCAGAGACGCAAGAAGAGT	0.443																																						uc001noj.2		NaN																	0				ovary(2)	2						c.(922-924)TGC>TGG		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						113.0	112.0	113.0					11																	59623355		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59623355G>C	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.924C>G	11.37:g.59623355G>C	ENSP00000257264:p.Cys308Trp						p.C308W	NM_001062	NP_001053	P20061	TCO1_HUMAN			6	1022	-		all_epithelial(135;0.198)	308					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.924C>G	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	g	14.22	2.469250	0.43839	.	.	ENSG00000134827	ENST00000257264	T	0.52983	0.64	4.83	2.35	0.29111	.	0.519912	0.16168	N	0.226457	T	0.62853	0.2462	M	0.79258	2.445	0.26870	N	0.967763	D	0.89917	1.0	D	0.79108	0.992	T	0.50750	-0.8791	10	0.45353	T	0.12	.	5.7723	0.18259	0.7819:0.0:0.2181:0.0	.	308	P20061	TCO1_HUMAN	W	308	ENSP00000257264:C308W	ENSP00000257264:C308W	C	-	3	2	TCN1	59379931	0.005000	0.15991	0.369000	0.25952	0.289000	0.27227	-0.253000	0.08794	0.683000	0.31428	-0.451000	0.05528	TGC		0.443	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1		NM_001062		20	66	0	0	0	0.004656	0	20	66		
EML3	256364	broad.mit.edu	37	11	62378418	62378418	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:62378418G>A	ENST00000394773.2	-	4	806	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	EML3_ENST00000494176.2_Missense_Mutation_p.R139W|EML3_ENST00000531557.1_5'UTR|EML3_ENST00000438258.1_5'Flank|ROM1_ENST00000534093.1_5'Flank|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.R168W|EML3_ENST00000529309.1_Missense_Mutation_p.R167W	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	167						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCTTCTGCCGAGGCCGCTCT	0.612																																						uc001ntu.1		NaN																	0				ovary(1)	1						c.(499-501)CGG>TGG		echinoderm microtubule associated protein like							42.0	44.0	43.0					11																	62378418		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62378418G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.499C>T	11.37:g.62378418G>A	ENSP00000378254:p.Arg167Trp					EML3_uc001ntr.1_Missense_Mutation_p.R139W|EML3_uc001nts.1_Missense_Mutation_p.R139W|EML3_uc001ntt.1_Missense_Mutation_p.R51W|EML3_uc010rly.1_Missense_Mutation_p.R167W|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank	p.R167W	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN			4	807	-			167					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.499C>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.35|18.35	3.605165|3.605165	0.66445|0.66445	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T|.	0.15372|.	2.43;2.43;2.43;2.43|.	5.08|5.08	3.11|3.11	0.35812|0.35812	.|.	0.000000|.	0.53938|.	D|.	0.000060|.	T|T	0.36413|0.36413	0.0966|0.0966	N|N	0.24115|0.24115	0.695|0.695	0.32147|0.32147	N|N	0.584748|0.584748	D;D;D;D|.	0.89917|.	0.999;0.999;1.0;1.0|.	D;P;D;D|.	0.83275|.	0.983;0.853;0.973;0.996|.	T|T	0.42015|0.42015	-0.9476|-0.9476	10|5	0.87932|.	D|.	0|.	-12.4175|-12.4175	10.1691|10.1691	0.42900|0.42900	0.0:0.0:0.6229:0.3771|0.0:0.0:0.6229:0.3771	.|.	167;167;168;139|.	Q32P44-2;Q32P44;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.|.	W|L	167;168;139;167|161	ENSP00000378254:R167W;ENSP00000278845:R168W;ENSP00000435064:R139W;ENSP00000434513:R167W|.	ENSP00000278845:R168W|.	R|S	-|-	1|2	2|0	EML3|EML3	62134994|62134994	0.994000|0.994000	0.37717|0.37717	0.950000|0.950000	0.38849|0.38849	0.967000|0.967000	0.64934|0.64934	2.163000|2.163000	0.42377|0.42377	0.477000|0.477000	0.27464|0.27464	0.313000|0.313000	0.20887|0.20887	CGG|TCG		0.612	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1		NM_153265		12	74	0	0	0	0.003163	0	12	74		
GANAB	23193	broad.mit.edu	37	11	62398090	62398090	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:62398090C>G	ENST00000356638.3	-	11	1385	c.1369G>C	c.(1369-1371)Gct>Cct	p.A457P	GANAB_ENST00000346178.4_Missense_Mutation_p.A479P|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_Missense_Mutation_p.A360P|GANAB_ENST00000534779.1_Missense_Mutation_p.A365P	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	457					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CTCTTAGAAGCCAAGCGCTCA	0.537																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1369-1371)GCT>CCT		neutral alpha-glucosidase AB isoform 2							65.0	65.0	65.0					11																	62398090		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62398090C>G	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1369G>C	11.37:g.62398090C>G	ENSP00000349053:p.Ala457Pro					GANAB_uc001nua.2_Missense_Mutation_p.A479P|GANAB_uc001nuc.2_Missense_Mutation_p.A360P|GANAB_uc010rma.1_Missense_Mutation_p.A365P|GANAB_uc010rmb.1_Missense_Mutation_p.A343P	p.A457P	NM_198334	NP_938148	Q14697	GANAB_HUMAN			11	1402	-			457					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.1369G>C	CCDS8026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.06|16.06	3.015165|3.015165	0.54468|0.54468	.|.	.|.	ENSG00000089597|ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933|ENST00000540002	D;D;D;D|.	0.92911|.	-3.13;-3.13;-3.13;-3.13|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Glycoside hydrolase, superfamily (1);|.	0.437153|.	0.25645|.	N|.	0.029253|.	T|T	0.79598|0.79598	0.4473|0.4473	M|M	0.90870|0.90870	3.155|3.155	0.38065|0.38065	D|D	0.936204|0.936204	P;P;P;P|.	0.52842|.	0.956;0.956;0.952;0.941|.	P;P;P;P|.	0.62649|.	0.905;0.905;0.905;0.847|.	D|D	0.84336|0.84336	0.0524|0.0524	10|5	0.30854|.	T|.	0.27|.	-23.6718|-23.6718	10.0508|10.0508	0.42214|0.42214	0.0:0.9118:0.0:0.0882|0.0:0.9118:0.0:0.0882	.|.	343;365;457;479|.	B4DIW2;E9PKU7;Q14697;Q14697-2|.	.;.;GANAB_HUMAN;.|.	P|A	479;457;365;360|42	ENSP00000340466:A479P;ENSP00000349053:A457P;ENSP00000435306:A365P;ENSP00000442962:A360P|.	ENSP00000340466:A479P|.	A|G	-|-	1|2	0|0	GANAB|GANAB	62154666|62154666	0.009000|0.009000	0.17119|0.17119	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	0.248000|0.248000	0.18198|0.18198	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334		4	45	0	0	0	0.009096	0	4	45		
GANAB	23193	broad.mit.edu	37	11	62398117	62398117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:62398117G>A	ENST00000356638.3	-	11	1358	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*	GANAB_ENST00000346178.4_Nonsense_Mutation_p.Q470*|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_Nonsense_Mutation_p.Q351*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.Q356*	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	448					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GTGCGGGGCTGAGGGAAGCGA	0.547																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1342-1344)CAG>TAG		neutral alpha-glucosidase AB isoform 2							75.0	73.0	74.0					11																	62398117		2202	4299	6501	SO:0001587	stop_gained	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62398117G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1342C>T	11.37:g.62398117G>A	ENSP00000349053:p.Gln448*					GANAB_uc001nua.2_Nonsense_Mutation_p.Q470*|GANAB_uc001nuc.2_Nonsense_Mutation_p.Q351*|GANAB_uc010rma.1_Nonsense_Mutation_p.Q356*|GANAB_uc010rmb.1_Nonsense_Mutation_p.Q334*	p.Q448*	NM_198334	NP_938148	Q14697	GANAB_HUMAN			11	1375	-			448					A6NC20|Q8WTS9|Q9P0X0	Nonsense_Mutation	SNP	ENST00000356638.3	37	c.1342C>T	CCDS8026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.830156|5.830156	0.96996|0.96996	.|.	.|.	ENSG00000089597|ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933|ENST00000540002	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.505382|.	0.22522|.	N|.	0.058955|.	.|T	.|0.56615	.|0.1997	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63646	.|-0.6590	.|3	0.62326|.	D|.	0.03|.	-10.535|-10.535	11.6511|11.6511	0.51290|0.51290	0.0:0.0:0.8233:0.1767|0.0:0.0:0.8233:0.1767	.|.	.|.	.|.	.|.	X|L	470;448;356;351|33	.|.	ENSP00000340466:Q470X|.	Q|S	-|-	1|2	0|0	GANAB|GANAB	62154693|62154693	0.021000|0.021000	0.18746|0.18746	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.261000|0.261000	0.18442|0.18442	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334		11	58	0	0	0	0.001855	0	11	58		
INTS5	80789	broad.mit.edu	37	11	62416959	62416959	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:62416959G>A	ENST00000330574.2	-	2	645	c.593C>T	c.(592-594)tCg>tTg	p.S198L	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	198					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AATGAGAGCCGAGAGGCACTG	0.532																																						uc001nud.2		NaN																	0				ovary(2)	2						c.(592-594)TCG>TTG		integrator complex subunit 5							134.0	119.0	124.0					11																	62416959		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416959G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.593C>T	11.37:g.62416959G>A	ENSP00000327889:p.Ser198Leu					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.S198L	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	646	-			198					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.593C>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426981	0.83667	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.67	4.67	0.58626	.	0.073973	0.56097	D	0.000035	T	0.56630	0.1998	L	0.50333	1.59	0.46901	D	0.999247	D	0.53619	0.961	P	0.45506	0.483	T	0.63143	-0.6703	9	0.62326	D	0.03	.	15.1127	0.72372	0.0:0.0:1.0:0.0	.	198	Q6P9B9	INT5_HUMAN	L	198	.	ENSP00000327889:S198L	S	-	2	0	INTS5	62173535	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	9.194000	0.94962	2.437000	0.82529	0.650000	0.86243	TCG		0.532	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1		NM_030628		31	102	0	0	0	0.003755	0	31	102		
CDCA5	113130	broad.mit.edu	37	11	64846584	64846584	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:64846584C>G	ENST00000275517.3	-	6	926	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	CDCA5_ENST00000404147.3_Missense_Mutation_p.E307Q	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	252					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCATCTCATTCAACCAGGAGA	0.572																																						uc001ocp.2		NaN																	0					0						c.(754-756)GAA>CAA		cell division cycle associated 5							77.0	57.0	64.0					11																	64846584		2201	4297	6498	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64846584C>G	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.754G>C	11.37:g.64846584C>G	ENSP00000275517:p.Glu252Gln						p.E252Q	NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN			6	919	-			252					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.754G>C	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706597	0.68615	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.71579	-0.58;-0.09	5.42	5.42	0.78866	.	0.539757	0.18498	N	0.139446	T	0.75466	0.3853	L	0.29908	0.895	0.32626	N	0.522597	D	0.71674	0.998	P	0.61940	0.896	T	0.80647	-0.1289	10	0.72032	D	0.01	.	16.7337	0.85442	0.0:1.0:0.0:0.0	.	252	Q96FF9	CDCA5_HUMAN	Q	252;307	ENSP00000275517:E252Q;ENSP00000385711:E307Q	ENSP00000275517:E252Q	E	-	1	0	CDCA5	64603160	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.468000	0.60162	2.539000	0.85634	0.650000	0.86243	GAA		0.572	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1		NM_080668		14	29	0	0	0	0.010504	0	14	29		
CAPN1	823	broad.mit.edu	37	11	64981715	64981715	+	IGR	SNP	C	C	G	rs376669253		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:64981715C>G	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CGTCCACCATCGTGATGGAGG	0.657																																						uc010roc.1		NaN																	0				central_nervous_system(1)	1						c.(364-366)ATC>ATG		solute carrier family 22, member 20							14.0	17.0	16.0					11																	64981715		1992	4158	6150	SO:0001628	intergenic_variant	440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64981715C>G	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981715C>G						SLC22A20_uc010rob.1_Missense_Mutation_p.I122M	p.I122M	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN			1	369	+			122			Extracellular (Potential).		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.366C>G	CCDS44644.1																																																																																				0.657	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1				4	12	0	0	0	0.009096	0	4	12		
SF3B2	10992	broad.mit.edu	37	11	65824372	65824372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:65824372C>T	ENST00000322535.6	+	6	662	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	SF3B2_ENST00000528302.1_Missense_Mutation_p.R188W	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	205					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCAGTCCCTCGGCCCCCACA	0.587																																						uc001ogy.1		NaN																	0				ovary(2)|breast(1)	3						c.(613-615)CGG>TGG		splicing factor 3B subunit 2							59.0	55.0	56.0					11																	65824372		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65824372C>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.613C>T	11.37:g.65824372C>T	ENSP00000318861:p.Arg205Trp					SF3B2_uc001ogx.1_Missense_Mutation_p.R204W	p.R205W	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			6	653	+			205					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.613C>T	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171057	0.78452	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000530322	.	.	.	5.97	5.06	0.68205	.	0.460361	0.23479	N	0.047732	T	0.29458	0.0734	N	0.19112	0.55	0.34125	D	0.664567	D;D	0.56287	0.975;0.975	B;B	0.40659	0.336;0.336	T	0.49744	-0.8907	9	0.87932	D	0	-20.5296	12.7769	0.57453	0.1631:0.8369:0.0:0.0	.	205;204	Q13435;E9PJ04	SF3B2_HUMAN;.	W	188;205;204;204;200	.	ENSP00000318861:R205W	R	+	1	2	SF3B2	65580948	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.499000	0.22546	1.510000	0.48803	0.655000	0.94253	CGG		0.587	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2				17	66	0	0	0	0.012319	0	17	66		
CLCF1	23529	broad.mit.edu	37	11	67134963	67134963	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:67134963C>G	ENST00000312438.7	-	2	348	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Missense_Mutation_p.E41Q|CLCF1_ENST00000528474.1_Missense_Mutation_p.E41Q	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	51					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AGTTGGTGCTCCAGGTAGCGG	0.602																																						uc001okq.2		NaN																	0					0						c.(151-153)GAG>CAG		cardiotrophin-like cytokine factor 1 precursor							154.0	133.0	140.0					11																	67134963		2200	4295	6495	SO:0001583	missense	23529				B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr11:67134963C>G	BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"""B-cell stimulating factor 3"", ""cold-induced sweating syndrome 2"", ""novel neurotrophin-1"""	607672	"""CRLF1 associated cytokine-like factor 1"""			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.151G>C	11.37:g.67134963C>G	ENSP00000309338:p.Glu51Gln					LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Missense_Mutation_p.E41Q	p.E51Q	NM_013246	NP_037378	Q9UBD9	CLCF1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.39e-06)		2	347	-			51					B4DNT4|Q6NZA4	Missense_Mutation	SNP	ENST00000312438.7	37	c.151G>C	CCDS31617.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810036	0.32053	.	.	ENSG00000175505	ENST00000312438;ENST00000533438;ENST00000528474	T;T;T	0.35789	1.29;1.29;1.29	5.43	5.43	0.79202	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	N	0.11927	0.2	0.46078	D	0.998859	D	0.76494	0.999	D	0.83275	0.996	T	0.54536	-0.8279	10	0.87932	D	0	-16.4524	19.226	0.93817	0.0:1.0:0.0:0.0	.	51	Q9UBD9	CLCF1_HUMAN	Q	51;41;41	ENSP00000309338:E51Q;ENSP00000434122:E41Q;ENSP00000432553:E41Q	ENSP00000309338:E51Q	E	-	1	0	CLCF1	66891539	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.562000	0.73960	2.728000	0.93425	0.591000	0.81541	GAG		0.602	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1		NM_013246		37	97	0	0	0	0.00874	0	37	97		
SHANK2	22941	broad.mit.edu	37	11	70332669	70332669	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:70332669G>A	ENST00000423696.2	-	15	2628	c.2592C>T	c.(2590-2592)ctC>ctT	p.L864L	SHANK2_ENST00000409161.1_Silent_p.L647L|SHANK2_ENST00000338508.4_Silent_p.L1244L|SHANK2_ENST00000449833.2_Silent_p.L648L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	864					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGGTTTGTTGAGGTCGGCCT	0.632																																						uc001oqc.2		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3727-3729)CTC>CTT		SH3 and multiple ankyrin repeat domains 2							77.0	86.0	83.0					11																	70332669		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332669G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2592C>T	11.37:g.70332669G>A						SHANK2_uc010rqn.1_Silent_p.L655L|SHANK2_uc001opz.2_Silent_p.L648L|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.L1243L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3807	-			864					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3729C>T																																																																																					0.632	SHANK2-203	KNOWN	basic	protein_coding	protein_coding			NM_012309		8	97	0	0	0	0.008291	0	8	97		
ARAP1	116985	broad.mit.edu	37	11	72437906	72437906	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:72437906G>A	ENST00000393609.3	-	3	470	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	ARAP1_ENST00000359373.5_Missense_Mutation_p.R90C|ARAP1_ENST00000455638.2_Missense_Mutation_p.R90C	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	90					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						GGTGGTGAGCGGAAGATGTGG	0.726																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NaN																	0				skin(1)	1						c.(268-270)CGC>TGC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							10.0	14.0	12.0					11																	72437906		1992	4092	6084	SO:0001583	missense	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.chr11:72437906G>A	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.268C>T	11.37:g.72437906G>A	ENSP00000377233:p.Arg90Cys					ARAP1_uc001osv.2_Missense_Mutation_p.R90C	p.R90C	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			3	457	-			90					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.268C>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.563146	0.65538	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393609	T;T;T	0.07800	3.16;3.16;3.17	4.7	3.78	0.43462	.	0.186569	0.30879	N	0.008685	T	0.14614	0.0353	N	0.19112	0.55	0.42926	D	0.994302	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.959	T	0.04621	-1.0938	10	0.66056	D	0.02	.	11.892	0.52635	0.0862:0.0:0.9138:0.0	.	90;90	Q96P48-3;Q96P48	.;ARAP1_HUMAN	C	90	ENSP00000352332:R90C;ENSP00000390461:R90C;ENSP00000377233:R90C	ENSP00000352332:R90C	R	-	1	0	ARAP1	72115554	1.000000	0.71417	0.989000	0.46669	0.743000	0.42351	5.478000	0.66806	1.202000	0.43218	0.555000	0.69702	CGC		0.726	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		NM_001040118		3	14	0	0	0	0.009096	0	3	14		
C2CD3	26005	broad.mit.edu	37	11	73814626	73814626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:73814626G>C	ENST00000334126.7	-	14	2356	c.2130C>G	c.(2128-2130)atC>atG	p.I710M	C2CD3_ENST00000313663.7_Missense_Mutation_p.I710M			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	710					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACTTAGTATTGATACCAGTGA	0.373																																						uc001ouu.2		NaN																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(2128-2130)ATC>ATG		C2 calcium-dependent domain containing 3							119.0	119.0	119.0					11																	73814626		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73814626G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2130C>G	11.37:g.73814626G>C	ENSP00000334379:p.Ile710Met						p.I710M	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			14	2357	-	Breast(11;4.16e-06)		710					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.2130C>G		.	.	.	.	.	.	.	.	.	.	G	6.963	0.547639	0.13312	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.10099	2.91;2.91	5.82	-0.25	0.13007	.	0.923564	0.09341	N	0.815430	T	0.08313	0.0207	L	0.40543	1.245	0.09310	N	1	B	0.32526	0.374	B	0.31547	0.132	T	0.35525	-0.9785	10	0.62326	D	0.03	-0.3769	3.4417	0.07466	0.226:0.1078:0.543:0.1232	.	710	Q4AC94-1	.	M	710	ENSP00000334379:I710M;ENSP00000323339:I710M	ENSP00000323339:I710M	I	-	3	3	C2CD3	73492274	0.000000	0.05858	0.015000	0.15790	0.086000	0.17979	0.105000	0.15333	0.053000	0.16036	-0.345000	0.07892	ATC		0.373	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015531		26	47	0	0	0	0.004656	0	26	47		
SERPINH1	871	broad.mit.edu	37	11	75282943	75282943	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:75282943G>C	ENST00000524558.1	+	5	2507	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	SERPINH1_ENST00000358171.3_Missense_Mutation_p.E358Q|SERPINH1_ENST00000525876.1_Missense_Mutation_p.E141Q|SERPINH1_ENST00000533603.1_Missense_Mutation_p.E358Q			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	358					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CACCGCCTTTGAGTTGGACAC	0.597																																						uc001owr.2		NaN																	0				ovary(2)	2						c.(1072-1074)GAG>CAG		serine (or cysteine) proteinase inhibitor, clade							57.0	46.0	50.0					11																	75282943		2200	4293	6493	SO:0001583	missense	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75282943G>C	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.1072G>C	11.37:g.75282943G>C	ENSP00000434412:p.Glu358Gln					SERPINH1_uc009yug.2_Missense_Mutation_p.E358Q|SERPINH1_uc001ows.2_Missense_Mutation_p.E358Q|SERPINH1_uc001owt.2_Missense_Mutation_p.E141Q	p.E358Q	NM_001235	NP_001226	P50454	SERPH_HUMAN			5	1301	+	Ovarian(111;0.11)		358					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	c.1072G>C	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292826	0.95546	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000421448;ENST00000524558;ENST00000525876	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	5.27	5.27	0.74061	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.95529	0.8547	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95832	0.8859	10	0.72032	D	0.01	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	358	P50454	SERPH_HUMAN	Q	358;358;337;358;141	ENSP00000434657:E358Q;ENSP00000350894:E358Q;ENSP00000434412:E358Q;ENSP00000433532:E141Q	ENSP00000350894:E358Q	E	+	1	0	SERPINH1	74960591	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.813000	0.99286	2.619000	0.88677	0.561000	0.74099	GAG		0.597	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1		NM_004353		17	27	0	0	0	0.014323	0	17	27		
GDPD4	220032	broad.mit.edu	37	11	76980082	76980082	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:76980082G>A	ENST00000376217.2	-	8	761	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	GDPD4_ENST00000315938.4_Missense_Mutation_p.L171F|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	171					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AAAAGGATAAGAAGAAAGGGT	0.438																																						uc001oyf.2		NaN																	0				skin(1)	1						c.(511-513)CTT>TTT		glycerophosphodiester phosphodiesterase domain							72.0	69.0	70.0					11																	76980082		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76980082G>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.511C>T	11.37:g.76980082G>A	ENSP00000365390:p.Leu171Phe						p.L171F	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			8	762	-			171			Helical; (Potential).		Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.511C>T		.	.	.	.	.	.	.	.	.	.	G	10.19	1.282042	0.23392	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.17213	2.29;2.34	5.07	-5.39	0.02664	.	0.743799	0.12727	N	0.444182	T	0.07954	0.0199	L	0.33485	1.01	0.09310	N	1	B	0.17268	0.021	B	0.16722	0.016	T	0.35968	-0.9767	10	0.19147	T	0.46	-4.2114	1.8429	0.03153	0.1438:0.1883:0.3093:0.3586	.	171	Q6W3E5-2	.	F	171	ENSP00000365390:L171F;ENSP00000320815:L171F	ENSP00000320815:L171F	L	-	1	0	GDPD4	76657730	0.000000	0.05858	0.000000	0.03702	0.794000	0.44872	-0.822000	0.04448	-0.867000	0.04063	0.655000	0.94253	CTT		0.438	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1		NM_182833		7	38	0	0	0	0.00308	0	7	38		
NARS2	79731	broad.mit.edu	37	11	78239958	78239958	+	Missense_Mutation	SNP	C	C	T	rs544657093		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:78239958C>T	ENST00000281038.5	-	6	994	c.619G>A	c.(619-621)Gag>Aag	p.E207K	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	207					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	AAATTCTCCTCAGGTACCTTA	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		18670	0.0		0.0	False		,,,				2504	0.001					uc001ozi.2		NaN																	0				ovary(2)	2						c.(619-621)GAG>AAG		asparaginyl-tRNA synthetase 2, mitochondrial	L-Asparagine(DB00174)						82.0	82.0	82.0					11																	78239958		2200	4292	6492	SO:0001583	missense	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78239958C>T	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.619G>A	11.37:g.78239958C>T	ENSP00000281038:p.Glu207Lys					NARS2_uc010rsq.1_5'UTR	p.E207K	NM_024678	NP_078954	Q96I59	SYNM_HUMAN			6	995	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		207					G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	c.619G>A	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	2.500	-0.315347	0.05422	.	.	ENSG00000137513	ENST00000281038	T	0.78364	-1.17	4.8	-0.346	0.12620	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.630213	0.17035	N	0.189567	T	0.53302	0.1788	N	0.17474	0.49	0.30969	N	0.722819	B	0.09022	0.002	B	0.09377	0.004	T	0.49072	-0.8977	10	0.02654	T	1	-0.9358	8.8018	0.34914	0.0:0.6086:0.0:0.3914	.	207	Q96I59	SYNM_HUMAN	K	207	ENSP00000281038:E207K	ENSP00000281038:E207K	E	-	1	0	NARS2	77917606	0.457000	0.25752	0.716000	0.30569	0.882000	0.50991	0.682000	0.25335	0.019000	0.15079	0.544000	0.68410	GAG		0.353	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2		NM_024678		35	75	0	0	0	0.006999	0	35	75		
EED	8726	broad.mit.edu	37	11	85961447	85961447	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:85961447C>G	ENST00000263360.6	+	2	910	c.224C>G	c.(223-225)tCa>tGa	p.S75*	EED_ENST00000351625.6_Nonsense_Mutation_p.S75*|EED_ENST00000327320.4_Nonsense_Mutation_p.S75*|EED_ENST00000528180.1_Nonsense_Mutation_p.S75*	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	75					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AAATGGAAGTCAAAGAAATGC	0.388																																						uc001pbp.2		NaN																	0				skin(1)|pancreas(1)	2						c.(223-225)TCA>TGA		embryonic ectoderm development isoform a							95.0	85.0	88.0					11																	85961447		2203	4299	6502	SO:0001587	stop_gained	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85961447C>G	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.224C>G	11.37:g.85961447C>G	ENSP00000263360:p.Ser75*					EED_uc010rtm.1_Nonsense_Mutation_p.S75*|EED_uc001pbq.2_Nonsense_Mutation_p.S75*|EED_uc001pbr.2_Nonsense_Mutation_p.S75*|EED_uc001pbs.2_Nonsense_Mutation_p.S75*	p.S75*	NM_003797	NP_003788	O75530	EED_HUMAN			2	681	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	75					A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Nonsense_Mutation	SNP	ENST00000263360.6	37	c.224C>G	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	C	44	10.570770	0.99429	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000537092	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2209	17.9322	0.89000	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	.	S	+	2	0	EED	85639095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.689000	0.84165	2.206000	0.71126	0.580000	0.79431	TCA		0.388	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1		NM_003797		31	72	0	0	0	0.013726	0	31	72		
NAALAD2	10003	broad.mit.edu	37	11	89896561	89896561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:89896561G>A	ENST00000534061.1	+	10	1389	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	NAALAD2_ENST00000525171.1_Missense_Mutation_p.E294K|NAALAD2_ENST00000321955.4_Missense_Mutation_p.E354K|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	387	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTTTGCAAGAAATTGCCCG	0.398																																						uc001pdf.3		NaN																	0				pancreas(1)|skin(1)	2						c.(1159-1161)GAA>AAA		N-acetylated alpha-linked acidic dipeptidase 2							110.0	116.0	114.0					11																	89896561		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89896561G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1159G>A	11.37:g.89896561G>A	ENSP00000432481:p.Glu387Lys					NAALAD2_uc009yvx.2_Missense_Mutation_p.E354K|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.E294K	p.E387K	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			10	1268	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	387			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1159G>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586038	0.86748	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171	T;T;T	0.58652	0.32;0.32;0.32	5.51	5.51	0.81932	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	D	0.84570	0.5501	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.89003	0.3423	9	.	.	.	-31.1501	19.3895	0.94574	0.0:0.0:1.0:0.0	.	387;294	Q9Y3Q0;E9PKX5	NALD2_HUMAN;.	K	387;354;294	ENSP00000432481:E387K;ENSP00000320083:E354K;ENSP00000435249:E294K	.	E	+	1	0	NAALAD2	89536209	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.831000	0.92068	2.746000	0.94184	0.591000	0.81541	GAA		0.398	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2		NM_005467		52	101	0	0	0	0.01441	0	52	101		
PIWIL4	143689	broad.mit.edu	37	11	94316613	94316613	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:94316613G>A	ENST00000299001.6	+	5	724		c.e5-1		RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTTTTCCCAGGTCACAGAGT	0.418																																						uc001pfa.2		NaN																	0				skin(1)	1						c.e5-1		piwi-like 4							175.0	177.0	176.0					11																	94316613		2201	4298	6499	SO:0001630	splice_region_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94316613G>A	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.514-1G>A	11.37:g.94316613G>A						PIWIL4_uc010rue.1_Splice_Site|PIWIL4_uc009ywk.1_Splice_Site	p.V172_splice	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			5	725	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)						B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Splice_Site	SNP	ENST00000299001.6	37	c.514_splice	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993436	0.54041	.	.	ENSG00000134627	ENST00000299001;ENST00000545603	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5154	0.84299	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIWIL4	93956261	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	7.762000	0.85270	2.890000	0.99128	0.650000	0.86243	.		0.418	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1		NM_152431	Intron	71	165	0	0	0	0.01441	0	71	165		
CASP5	838	broad.mit.edu	37	11	104871143	104871143	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:104871143G>A	ENST00000260315.3	-	6	796	c.797C>T	c.(796-798)tCt>tTt	p.S266F	CASP5_ENST00000418434.1_Missense_Mutation_p.S124F|CASP5_ENST00000393141.2_Missense_Mutation_p.S279F|CASP5_ENST00000526056.1_Missense_Mutation_p.S279F|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Missense_Mutation_p.S208F|CASP5_ENST00000531367.1_Missense_Mutation_p.S124F			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	266					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GATGCCATGAGACATGAGTAC	0.463																																						uc010rva.1		NaN																	0				ovary(2)|lung(1)	3						c.(796-798)TCT>TTT		caspase 5 isoform a precursor							135.0	122.0	127.0					11																	104871143		2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104871143G>A		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.797C>T	11.37:g.104871143G>A	ENSP00000260315:p.Ser266Phe					CASP5_uc010ruz.1_Missense_Mutation_p.S279F|CASP5_uc010rvb.1_Missense_Mutation_p.S208F|CASP5_uc010rvc.1_Missense_Mutation_p.S124F|CASP5_uc009yxh.2_Missense_Mutation_p.S48F|CASP5_uc010rvd.1_Missense_Mutation_p.S48F	p.S266F	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	6	829	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	266					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.797C>T	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	13.69	2.311705	0.40895	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7	4.21	3.3	0.37823	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	H	0.97707	4.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.71217	-0.4658	10	0.87932	D	0	.	9.8471	0.41034	0.1035:0.0:0.8965:0.0	.	124;208;266;279	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	F	279;124;266;208;279;124	ENSP00000376849:S279F;ENSP00000398130:S124F;ENSP00000260315:S266F;ENSP00000388365:S208F;ENSP00000436877:S279F;ENSP00000434471:S124F	ENSP00000260315:S266F	S	-	2	0	CASP5	104376353	1.000000	0.71417	0.998000	0.56505	0.098000	0.18820	6.085000	0.71343	0.902000	0.36520	0.205000	0.17691	TCT		0.463	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2		NM_004347		23	70	0	0	0	0.005443	0	23	70		
SLC35F2	54733	broad.mit.edu	37	11	107673745	107673745	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:107673745G>C	ENST00000525815.1	-	7	1341	c.921C>G	c.(919-921)ctC>ctG	p.L307L	SLC35F2_ENST00000265836.7_Silent_p.L159L|SLC35F2_ENST00000429869.1_Silent_p.L307L|SLC35F2_ENST00000375682.4_Silent_p.L260L|SLC35F2_ENST00000525071.1_Silent_p.L307L	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	307					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CAAACAGAAAGAGTCCAACAA	0.428																																						uc001pjq.2		NaN																	0				central_nervous_system(1)	1						c.(919-921)CTC>CTG		solute carrier family 35, member F2							84.0	81.0	82.0					11																	107673745		1927	4135	6062	SO:0001819	synonymous_variant	54733				transport	integral to membrane		g.chr11:107673745G>C		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.921C>G	11.37:g.107673745G>C						SLC35F2_uc010rvu.1_Silent_p.L159L	p.L307L	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	7	1342	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	307			Helical; (Potential).		Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Silent	SNP	ENST00000525815.1	37	c.921C>G	CCDS41709.1																																																																																				0.428	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1		NM_017515		18	42	0	0	0	0.010504	0	18	42		
NPAT	4863	broad.mit.edu	37	11	108044182	108044182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:108044182G>C	ENST00000278612.8	-	13	1634	c.1529C>G	c.(1528-1530)aCt>aGt	p.T510S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	510					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AACAAATGAAGTTATTGGTAT	0.363																																						uc001pjz.3		NaN																	0				ovary(2)	2						c.(1528-1530)ACT>AGT		nuclear protein,  ataxia-telangiectasia locus							107.0	102.0	103.0					11																	108044182		1851	4079	5930	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108044182G>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1529C>G	11.37:g.108044182G>C	ENSP00000278612:p.Thr510Ser					NPAT_uc001pka.2_Missense_Mutation_p.T305S	p.T510S	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	1631	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	510					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.1529C>G	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316424	0.23908	.	.	ENSG00000149308	ENST00000278612	T	0.31510	1.49	6.08	4.2	0.49525	.	0.547984	0.20093	N	0.099420	T	0.18635	0.0447	L	0.31294	0.92	0.18873	N	0.999984	B;B	0.17667	0.023;0.023	B;B	0.12156	0.007;0.007	T	0.12066	-1.0562	10	0.25751	T	0.34	-12.5215	4.8941	0.13742	0.153:0.2071:0.6399:0.0	.	510;510	B9EG70;Q14207	.;NPAT_HUMAN	S	510	ENSP00000278612:T510S	ENSP00000278612:T510S	T	-	2	0	NPAT	107549392	0.129000	0.22400	0.940000	0.37924	0.791000	0.44710	1.501000	0.35693	1.572000	0.49736	0.655000	0.94253	ACT		0.363	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2		NM_002519		43	91	0	0	0	0.01441	0	43	91		
SIK2	23235	broad.mit.edu	37	11	111594445	111594445	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:111594445C>G	ENST00000304987.3	+	15	2546	c.2373C>G	c.(2371-2373)ctC>ctG	p.L791L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	791					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GCCCTTTCCTCAGCCAGTACC	0.662																																						uc001plt.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(2371-2373)CTC>CTG		SNF1-like kinase 2							163.0	176.0	171.0					11																	111594445		2201	4297	6498	SO:0001819	synonymous_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111594445C>G	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2373C>G	11.37:g.111594445C>G							p.L791L	NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN			15	2491	+			791					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.2373C>G	CCDS8347.1																																																																																				0.662	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3		NM_015191		136	297	0	0	0	0.01441	0	136	297		
DSCAML1	57453	broad.mit.edu	37	11	117302289	117302289	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:117302289C>G	ENST00000321322.6	-	31	5516	c.5515G>C	c.(5515-5517)Gag>Cag	p.E1839Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1569Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1779					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGTCACTCTCAGTGACCGTG	0.632																																						uc001prh.1		NaN																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5515-5517)GAG>CAG		Down syndrome cell adhesion molecule like 1							77.0	73.0	75.0					11																	117302289		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117302289C>G		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5515G>C	11.37:g.117302289C>G	ENSP00000315465:p.Glu1839Gln						p.E1839Q	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	31	5517	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1779			Cytoplasmic (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5515G>C	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065977	0.93898	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.70282	-0.42;-0.47	5.06	5.06	0.68205	.	.	.	.	.	T	0.76263	0.3963	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79376	-0.1829	9	0.66056	D	0.02	.	18.2327	0.89939	0.0:1.0:0.0:0.0	.	1779	Q8TD84	DSCL1_HUMAN	Q	1569;1839;1546	ENSP00000434335:E1569Q;ENSP00000315465:E1839Q	ENSP00000315465:E1839Q	E	-	1	0	DSCAML1	116807499	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	7.617000	0.83032	2.639000	0.89480	0.655000	0.94253	GAG		0.632	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693		21	59	0	0	0	0.014323	0	21	59		
MPZL2	10205	broad.mit.edu	37	11	118128003	118128003	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:118128003C>G	ENST00000278937.2	-	5	738	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	MPZL2_ENST00000438295.2_Missense_Mutation_p.E204Q	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	204					anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ACCTTTTTCTCTTGGTTGAGC	0.388																																						uc001psn.2		NaN																	0				skin(1)	1						c.(610-612)GAG>CAG		myelin protein zero-like 2 precursor							134.0	130.0	132.0					11																	118128003		2200	4295	6495	SO:0001583	missense	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118128003C>G	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.610G>C	11.37:g.118128003C>G	ENSP00000278937:p.Glu204Gln					MPZL2_uc001pso.2_Missense_Mutation_p.E204Q	p.E204Q	NM_005797	NP_005788	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	5	751	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	204			Cytoplasmic (Potential).		A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	c.610G>C	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606640	0.46527	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.97529	-4.42;-4.42	4.97	4.97	0.65823	.	0.621958	0.17823	N	0.160819	D	0.93064	0.7792	N	0.24115	0.695	0.21878	N	0.999497	B	0.26445	0.149	B	0.24541	0.054	D	0.84716	0.0737	10	0.28530	T	0.3	.	14.4507	0.67382	0.0:1.0:0.0:0.0	.	204	O60487	MPZL2_HUMAN	Q	204	ENSP00000278937:E204Q;ENSP00000408362:E204Q	ENSP00000278937:E204Q	E	-	1	0	MPZL2	117633213	0.795000	0.28851	0.928000	0.36995	0.969000	0.65631	3.404000	0.52623	2.674000	0.91012	0.655000	0.94253	GAG		0.388	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1		NM_005797		12	84	0	0	0	0.001855	0	12	84		
CBL	867	broad.mit.edu	37	11	119167741	119167741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:119167741C>T	ENST00000264033.4	+	13	2526	c.2150C>T	c.(2149-2151)tCa>tTa	p.S717L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	717	Asp/Glu-rich (acidic).|Interaction with CD2AP.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCAGAGTTCACGGTAGGTT	0.507			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2		NaN		"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					0				haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(2149-2151)TCA>TTA		Cas-Br-M (murine) ecotropic retroviral							71.0	71.0	71.0					11																	119167741		2199	4295	6494	SO:0001583	missense	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119167741C>T	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2150C>T	11.37:g.119167741C>T	ENSP00000264033:p.Ser717Leu						p.S717L	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	13	2288	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	717			Interaction with CD2AP.|Asp/Glu-rich (acidic).		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.2150C>T	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010695	0.35511	.	.	ENSG00000110395	ENST00000264033	T	0.76839	-1.05	5.34	4.32	0.51571	.	1.153860	0.06184	N	0.680058	T	0.55016	0.1894	N	0.02247	-0.625	0.34824	D	0.738957	B	0.02656	0.0	B	0.01281	0.0	T	0.55186	-0.8180	10	0.33141	T	0.24	-32.8445	7.1797	0.25765	0.0:0.8141:0.0:0.1859	.	717	P22681	CBL_HUMAN	L	717	ENSP00000264033:S717L	ENSP00000264033:S717L	S	+	2	0	CBL	118672951	0.716000	0.27956	1.000000	0.80357	0.942000	0.58702	0.500000	0.22562	2.485000	0.83878	0.557000	0.71058	TCA		0.507	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4		NM_005188		40	71	0	0	0	0.01441	0	40	71		
NFRKB	4798	broad.mit.edu	37	11	129762708	129762708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:129762708C>G	ENST00000446488.3	-	2	140	c.37G>C	c.(37-39)Gaa>Caa	p.E13Q	NFRKB_ENST00000526940.1_Missense_Mutation_p.E13Q|NFRKB_ENST00000524794.1_Missense_Mutation_p.E26Q|NFRKB_ENST00000524746.1_Missense_Mutation_p.E13Q|NFRKB_ENST00000304521.5_Missense_Mutation_p.E13Q	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	13					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGACCAAGTTCCAGAGGATCT	0.517																																						uc001qfi.2		NaN																	0				ovary(3)	3						c.(37-39)GAA>CAA		nuclear factor related to kappaB binding protein							196.0	162.0	173.0					11																	129762708		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129762708C>G		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.37G>C	11.37:g.129762708C>G	ENSP00000400476:p.Glu13Gln					NFRKB_uc001qfg.2_Missense_Mutation_p.E26Q|NFRKB_uc001qfh.2_Missense_Mutation_p.E36Q|NFRKB_uc010sbw.1_Missense_Mutation_p.E13Q	p.E13Q	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	3	238	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	13					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.37G>C	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138655	0.77775	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755;ENST00000532225;ENST00000529319;ENST00000526940;ENST00000526884;ENST00000531318	.	.	.	5.24	5.24	0.73138	.	0.107742	0.64402	D	0.000008	T	0.64681	0.2620	L	0.51422	1.61	0.53688	D	0.999978	B;B;P;B	0.37330	0.247;0.247;0.59;0.361	B;B;B;B	0.42343	0.214;0.214;0.384;0.384	T	0.67245	-0.5719	9	0.56958	D	0.05	-14.7019	18.8739	0.92327	0.0:1.0:0.0:0.0	.	13;13;13;26	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	Q	13;13;26;13;13;13;13;13;13;13	.	ENSP00000303800:E13Q	E	-	1	0	NFRKB	129267918	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.974000	0.76122	2.458000	0.83093	0.585000	0.79938	GAA		0.517	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2		NM_006165		29	136	0	0	0	0.012213	0	29	136		
B4GALNT3	283358	broad.mit.edu	37	12	660168	660168	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:660168C>T	ENST00000266383.5	+	11	1091	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	360					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGATGGGCTTCCTCTGCAGCG	0.607																																						uc001qii.1		NaN																	0				ovary(1)|skin(1)	2						c.(1078-1080)CCT>TCT		beta							184.0	158.0	167.0					12																	660168		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:660168C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1078C>T	12.37:g.660168C>T	ENSP00000266383:p.Pro360Ser					B4GALNT3_uc001qij.1_Missense_Mutation_p.P262S|B4GALNT3_uc001qik.1_5'Flank	p.P360S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		11	1078	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		360			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1078C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313752	0.81358	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.72167	-0.63;-0.63	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.82692	0.5092	M	0.77313	2.365	0.54753	D	0.999987	D;P	0.89917	1.0;0.835	D;B	0.71414	0.973;0.195	D	0.83526	0.0088	10	0.54805	T	0.06	-9.3825	13.2672	0.60141	0.0:0.9244:0.0:0.0756	.	262;360	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	S	360;262	ENSP00000266383:P360S;ENSP00000322953:P262S	ENSP00000266383:P360S	P	+	1	0	B4GALNT3	530429	0.997000	0.39634	0.999000	0.59377	0.922000	0.55478	4.185000	0.58330	2.715000	0.92844	0.655000	0.94253	CCT		0.607	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2		NM_173593		31	69	0	0	0	0.005524	0	31	69		
DCP1B	196513	broad.mit.edu	37	12	2061674	2061674	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:2061674G>A	ENST00000280665.6	-	7	1511	c.1432C>T	c.(1432-1434)Cct>Tct	p.P478S	DCP1B_ENST00000540622.1_Missense_Mutation_p.P352S|DCP1B_ENST00000541700.1_5'Flank|DCP1B_ENST00000397173.4_Missense_Mutation_p.P376S	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	478					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GCGAGCACAGGAAACTTAGCG	0.512																																						uc001qjx.1		NaN																	0				skin(1)	1						c.(1432-1434)CCT>TCT		decapping enzyme Dcp1b							82.0	85.0	84.0					12																	2061674		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2061674G>A	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1432C>T	12.37:g.2061674G>A	ENSP00000280665:p.Pro478Ser					DCP1B_uc010sdy.1_Missense_Mutation_p.P376S	p.P478S	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	1512	-			478					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.1432C>T	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998503	0.54147	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.22539	1.95;2.0;2.01	4.73	4.73	0.59995	.	0.157563	0.42294	D	0.000721	T	0.24547	0.0595	M	0.61703	1.905	0.44227	D	0.997065	B;D	0.53619	0.061;0.961	B;B	0.41571	0.014;0.36	T	0.06303	-1.0834	10	0.26408	T	0.33	-18.1733	16.8627	0.86022	0.0:0.0:1.0:0.0	.	376;478	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	S	478;376;352	ENSP00000280665:P478S;ENSP00000380358:P376S;ENSP00000444374:P352S	ENSP00000280665:P478S	P	-	1	0	DCP1B	1931935	1.000000	0.71417	0.607000	0.28956	0.047000	0.14425	5.575000	0.67430	2.440000	0.82611	0.655000	0.94253	CCT		0.512	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1		NM_152640		17	35	0	0	0	0.00499	0	17	35		
LRP6	4040	broad.mit.edu	37	12	12318175	12318175	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:12318175G>T	ENST00000261349.4	-	8	1676	c.1600C>A	c.(1600-1602)Cac>Aac	p.H534N	LRP6_ENST00000543091.1_Missense_Mutation_p.H534N	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	534	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAAATATGTGAGGAATTTTG	0.398																																						uc001rah.3		NaN																	0				lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(1600-1602)CAC>AAC		low density lipoprotein receptor-related protein							144.0	148.0	146.0					12																	12318175		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12318175G>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1600C>A	12.37:g.12318175G>T	ENSP00000261349:p.His534Asn					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.H534N	p.H534N	NM_002336	NP_002327	O75581	LRP6_HUMAN			8	1742	-		Prostate(47;0.0865)	534			Beta-propeller 2.|Extracellular (Potential).|LDL-receptor class B 9.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1600C>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789730	0.90367	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91124	-2.79;-2.79	4.98	4.98	0.66077	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000004	D	0.95360	0.8494	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.91635	0.969;0.999	D	0.95734	0.8777	10	0.72032	D	0.01	.	18.607	0.91270	0.0:0.0:1.0:0.0	.	534;534	F5H7J9;O75581	.;LRP6_HUMAN	N	534	ENSP00000261349:H534N;ENSP00000442472:H534N	ENSP00000261349:H534N	H	-	1	0	LRP6	12209442	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.612000	0.98347	2.478000	0.83669	0.460000	0.39030	CAC		0.398	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1				58	126	1	0	4.97629e-18	0.01441	5.61156e-18	58	126		
PIK3C2G	5288	broad.mit.edu	37	12	18650568	18650568	+	Missense_Mutation	SNP	C	C	T	rs368805708		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:18650568C>T	ENST00000266497.5	+	20	2817	c.2779C>T	c.(2779-2781)Cgt>Tgt	p.R927C	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R968C|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R927C			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	927	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGATGATCTTCGTCAGGATAT	0.363																																						uc001rdt.2		NaN																	0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(2779-2781)CGT>TGT		phosphoinositide-3-kinase, class 2 gamma		C	CYS/ARG	0,3686		0,0,1843	101.0	96.0	97.0		2779	4.0	1.0	12		97	1,8169		0,1,4084	no	missense	PIK3C2G	NM_004570.4	180	0,1,5927	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	927/1446	18650568	1,11855	1843	4085	5928	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18650568C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2779C>T	12.37:g.18650568C>T	ENSP00000266497:p.Arg927Cys					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.R968C|PIK3C2G_uc010sic.1_Missense_Mutation_p.R746C	p.R927C	NM_004570	NP_004561	O75747	P3C2G_HUMAN			21	2895	+		Hepatocellular(102;0.194)	927			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2779C>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426566	0.62733	0.0	1.22E-4	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.88201	-2.35;-2.35;-2.35	4.04	4.04	0.47022	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.074816	0.53938	D	0.000051	D	0.96222	0.8768	H	0.96489	3.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97424	1.0011	10	0.87932	D	0	-13.663	16.4701	0.84109	0.0:1.0:0.0:0.0	.	967;968;927	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	C	927;927;968	ENSP00000404845:R927C;ENSP00000266497:R927C;ENSP00000445381:R968C	ENSP00000266497:R927C	R	+	1	0	PIK3C2G	18541835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.503000	0.53340	2.544000	0.85801	0.563000	0.77884	CGT		0.363	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1		NM_004570		8	41	0	0	0	0.013537	0	8	41		
SLCO1B1	10599	broad.mit.edu	37	12	21392046	21392046	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:21392046G>A	ENST00000256958.2	+	15	2095	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	667			E -> G (in dbSNP:rs55737008). {ECO:0000269|PubMed:11477075}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGTCATGGATGAAGCAAACTT	0.318																																						uc001req.3		NaN																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1999-2001)GAA>AAA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						46.0	51.0	49.0					12																	21392046		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21392046G>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1999G>A	12.37:g.21392046G>A	ENSP00000256958:p.Glu667Lys						p.E667K	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			15	2103	+			667			Cytoplasmic (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1999G>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172583	0.57584	.	.	ENSG00000134538	ENST00000256958	T	0.36878	1.23	3.17	3.17	0.36434	.	1.077740	0.07062	N	0.833975	T	0.32704	0.0838	L	0.54323	1.7	0.29581	N	0.849191	B	0.24618	0.107	B	0.22386	0.039	T	0.28744	-1.0034	10	0.11794	T	0.64	.	10.0727	0.42343	0.0:0.0:1.0:0.0	.	667	Q9Y6L6	SO1B1_HUMAN	K	667	ENSP00000256958:E667K	ENSP00000256958:E667K	E	+	1	0	SLCO1B1	21283313	0.993000	0.37304	0.959000	0.39883	0.758000	0.43043	3.322000	0.52007	2.068000	0.61886	0.313000	0.20887	GAA		0.318	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1		NM_006446		8	28	0	0	0	0.00308	0	8	28		
ABCC9	10060	broad.mit.edu	37	12	21958120	21958120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:21958120C>T	ENST00000261201.4	-	38	4637	c.4638G>A	c.(4636-4638)atG>atA	p.M1546I	ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Missense_Mutation_p.M1510I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1546	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.M1546I(1)		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)	ACTTGTTGGTCATCACCAAAG	0.438																																						uc001rfi.1		NaN																	1	Substitution - Missense(1)	p.R1546H(1)	lung(1)	ovary(4)|skin(2)	6						c.(4636-4638)ATG>ATA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						174.0	145.0	155.0					12																	21958120		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21958120C>T	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.4638G>A	12.37:g.21958120C>T	ENSP00000261201:p.Met1546Ile					ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.M1510I|ABCC9_uc001rfg.2_Intron	p.M1546I	NM_005691	NP_005682	O60706	ABCC9_HUMAN			38	4658	-			1546			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4638G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472587	0.63737	.	.	ENSG00000069431	ENST00000544039;ENST00000261201;ENST00000345162	D;D;D	0.91945	-2.79;-2.94;-2.92	5.96	5.08	0.68730	ABC transporter-like (1);	.	.	.	.	D	0.86389	0.5921	N	0.19112	0.55	0.33248	D	0.558092	B	0.13594	0.008	B	0.10450	0.005	D	0.86505	0.1806	9	0.87932	D	0	.	13.4726	0.61290	0.0:0.9282:0.0:0.0718	.	1546	O60706	ABCC9_HUMAN	I	1173;1546;1510	ENSP00000440521:M1173I;ENSP00000261201:M1546I;ENSP00000261202:M1510I	ENSP00000261201:M1546I	M	-	3	0	ABCC9	21849387	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.515000	0.67049	1.542000	0.49330	-0.136000	0.14681	ATG		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691		16	62	0	0	0	0.010504	0	16	62		
IRAK4	51135	broad.mit.edu	37	12	44176171	44176171	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:44176171G>C	ENST00000448290.2	+	9	1074	c.1003G>C	c.(1003-1005)Gct>Cct	p.A335P	IRAK4_ENST00000551736.1_Missense_Mutation_p.A335P|IRAK4_ENST00000440781.2_Missense_Mutation_p.A211P|IRAK4_ENST00000431837.1_Missense_Mutation_p.A211P	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CCTTGCACGGGCTTCTGAGAA	0.388																																						uc001rnu.3		NaN																	0					0						c.(1003-1005)GCT>CCT		interleukin-1 receptor-associated kinase 4							70.0	71.0	70.0					12																	44176171		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44176171G>C	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1003G>C	12.37:g.44176171G>C	ENSP00000390651:p.Ala335Pro					IRAK4_uc001rnt.3_Missense_Mutation_p.A335P|IRAK4_uc001rnx.3_Missense_Mutation_p.A211P|IRAK4_uc001rny.3_Missense_Mutation_p.A211P|IRAK4_uc010sky.1_Missense_Mutation_p.A211P|IRAK4_uc001rnv.3_Missense_Mutation_p.A211P|IRAK4_uc001rnw.3_Missense_Mutation_p.A211P	p.A335P	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	10	1133	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	335			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.1003G>C	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206331	0.79127	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.62	4.54	0.55810	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059721	0.64402	D	0.000003	T	0.50531	0.1621	N	0.12611	0.24	0.58432	D	0.999999	B	0.16166	0.016	B	0.22753	0.041	T	0.49447	-0.8939	10	0.46703	T	0.11	-23.9548	15.4214	0.75015	0.0779:0.0:0.9221:0.0	.	335	Q9NWZ3	IRAK4_HUMAN	P	211;211;335;335	ENSP00000408734:A211P;ENSP00000390327:A211P;ENSP00000390651:A335P;ENSP00000446490:A335P	ENSP00000390327:A211P	A	+	1	0	IRAK4	42462438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.250000	0.72435	2.637000	0.89404	0.585000	0.79938	GCT		0.388	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1				16	41	0	0	0	0.008871	0	16	41		
COL2A1	1280	broad.mit.edu	37	12	48375126	48375126	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:48375126C>T	ENST00000380518.3	-	37	2627	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.P752P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	821	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGACACTCACCGGAGCGCCAC	0.662																																						uc001rqu.2		NaN																	0				ovary(1)|skin(1)	2						c.(2461-2463)CCG>CCA		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						28.0	30.0	29.0					12																	48375126		2203	4299	6502	SO:0001630	splice_region_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48375126C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2463+1G>A	12.37:g.48375126C>T						COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.P752P	p.P821P	NM_001844	NP_001835	P02458	CO2A1_HUMAN			37	2644	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	821			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.2463G>A	CCDS41778.1																																																																																				0.662	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		NM_001844	Silent	8	16	0	0	0	0.010729	0	8	16		
KMT2D	8085	broad.mit.edu	37	12	49448457	49448457	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:49448457A>G	ENST00000301067.7	-	3	253	c.254T>C	c.(253-255)tTt>tCt	p.F85S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	85					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)										TGGCAACTCAAAGCGCCGTAG	0.622																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(253-255)TTT>TCT		myeloid/lymphoid or mixed-lineage leukemia 2							27.0	32.0	30.0					12																	49448457		1975	4142	6117	SO:0001583	missense	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.chr12:49448457A>G	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.254T>C	12.37:g.49448457A>G	ENSP00000301067:p.Phe85Ser	HNSCC(34;0.089)					p.F85S	NM_003482	NP_003473	O14686	MLL2_HUMAN			3	254	-			85					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.254T>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.408310	0.62399	.	.	ENSG00000167548	ENST00000301067;ENST00000547610	T	0.80824	-1.42	5.18	5.18	0.71444	.	.	.	.	.	T	0.73410	0.3583	N	0.24115	0.695	0.36411	D	0.863713	P	0.41366	0.747	B	0.42827	0.399	T	0.81462	-0.0922	9	0.87932	D	0	.	14.0193	0.64543	1.0:0.0:0.0:0.0	.	85	O14686	MLL2_HUMAN	S	85	ENSP00000301067:F85S	ENSP00000301067:F85S	F	-	2	0	MLL2	47734724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.732000	0.74790	1.936000	0.56123	0.455000	0.32223	TTT		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				3	10	0	0	0	0.004672	0	3	10		
KRT80	144501	broad.mit.edu	37	12	52574306	52574306	+	Silent	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:52574306G>T	ENST00000394815.2	-	4	754	c.657C>A	c.(655-657)atC>atA	p.I219I	KRT80_ENST00000313234.5_Silent_p.I219I	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	219	Coil 1B.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CCTGCTCATAGATGGTTTTCA	0.552																																					GBM(178;2309 2916 15678 35873)	uc001rzx.2		NaN																	0					0						c.(655-657)ATC>ATA		keratin 80 isoform a							150.0	153.0	152.0					12																	52574306		2203	4300	6503	SO:0001819	synonymous_variant	144501					keratin filament	structural molecule activity	g.chr12:52574306G>T	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.657C>A	12.37:g.52574306G>T						KRT80_uc001rzw.2_Silent_p.I254I|KRT80_uc001rzy.2_Silent_p.I219I	p.I219I	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	4	755	-			219			Coil 1B.|Rod.		Q6P1A5|Q7Z3Q0	Silent	SNP	ENST00000394815.2	37	c.657C>A	CCDS8821.2																																																																																				0.552	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1		NM_182507		36	158	1	0	4.67007e-22	0.00874	5.38073e-22	36	158		
KRT76	51350	broad.mit.edu	37	12	53165706	53165706	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:53165706G>C	ENST00000332411.2	-	6	1265	c.1212C>G	c.(1210-1212)ctC>ctG	p.L404L		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	404	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCATCCTGTTGAGCTCCATGA	0.547																																						uc001sax.2		NaN																	0				breast(1)|skin(1)	2						c.(1210-1212)CTC>CTG		keratin 76							140.0	123.0	129.0					12																	53165706		2203	4300	6503	SO:0001819	synonymous_variant	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53165706G>C	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1212C>G	12.37:g.53165706G>C							p.L404L	NM_015848	NP_056932	Q01546	K22O_HUMAN			6	1266	-			404			Rod.|Coil 2.		B4DRR3|Q7Z795	Silent	SNP	ENST00000332411.2	37	c.1212C>G	CCDS8838.1																																																																																				0.547	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1		NM_015848		44	91	0	0	0	0.01441	0	44	91		
PTPRB	5787	broad.mit.edu	37	12	70956762	70956762	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:70956762G>C	ENST00000261266.5	-	14	3405	c.3376C>G	c.(3376-3378)Ctc>Gtc	p.L1126V	PTPRB_ENST00000334414.6_Missense_Mutation_p.L1344V|PTPRB_ENST00000538708.1_Missense_Mutation_p.L1036V|PTPRB_ENST00000451516.2_Missense_Mutation_p.L1036V|PTPRB_ENST00000551525.1_Missense_Mutation_p.L1343V|PTPRB_ENST00000550358.1_Missense_Mutation_p.L1256V|PTPRB_ENST00000550857.1_Missense_Mutation_p.L1036V	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1126	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CTCTCCTGGAGATTCCCATCT	0.512																																						uc001swb.3		NaN																	0				lung(2)|skin(1)	3						c.(3376-3378)CTC>GTC		protein tyrosine phosphatase, receptor type, B							99.0	93.0	95.0					12																	70956762		1900	4121	6021	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70956762G>C	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.3376C>G	12.37:g.70956762G>C	ENSP00000261266:p.Leu1126Val					PTPRB_uc010sto.1_Missense_Mutation_p.L1036V|PTPRB_uc010stp.1_Missense_Mutation_p.L1036V|PTPRB_uc001swc.3_Missense_Mutation_p.L1344V|PTPRB_uc001swa.3_Missense_Mutation_p.L1256V|PTPRB_uc001swd.3_Missense_Mutation_p.L1343V|PTPRB_uc009zrr.1_Missense_Mutation_p.L1223V	p.L1126V	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)		14	3406	-	Renal(347;0.236)		1126			Fibronectin type-III 13.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3376C>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023104	0.75275	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.89	5.89	0.94794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.130224	0.52532	D	0.000064	T	0.67720	0.2923	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D;D;D;D	0.69078	0.993;0.993;0.996;0.962;0.997;0.997;0.968	D;D;D;D;D;D;D	0.73708	0.96;0.96;0.981;0.931;0.96;0.976;0.909	T	0.57831	-0.7743	10	0.13853	T	0.58	.	20.2361	0.98357	0.0:0.0:1.0:0.0	.	1036;1036;1223;1343;1344;1126;1256	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	V	1344;1036;1256;1036;1036;1126;1343;1223	ENSP00000334928:L1344V;ENSP00000393028:L1036V;ENSP00000448058:L1256V;ENSP00000438927:L1036V;ENSP00000447302:L1036V;ENSP00000261266:L1126V;ENSP00000448349:L1343V;ENSP00000446982:L1223V	ENSP00000261266:L1126V	L	-	1	0	PTPRB	69243029	1.000000	0.71417	0.975000	0.42487	0.753000	0.42808	6.091000	0.71406	2.791000	0.96007	0.591000	0.81541	CTC		0.512	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1				8	60	0	0	0	0.004482	0	8	60		
TBC1D15	64786	broad.mit.edu	37	12	72312286	72312286	+	Silent	SNP	C	C	T	rs141790587		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:72312286C>T	ENST00000550746.1	+	15	1672	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	TBC1D15_ENST00000485960.2_Silent_p.F519F|TBC1D15_ENST00000319106.8_Silent_p.F527F|TBC1D15_ENST00000393309.3_Silent_p.F290F	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	536	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAATCAGATTCAAAAGGGAAT	0.294																																						uc001swu.2		NaN																	0					0						c.(1672-1674)TTC>TTT		TBC1 domain family, member 15 isoform 1							167.0	178.0	174.0					12																	72312286		2203	4300	6503	SO:0001819	synonymous_variant	64786						protein binding|Rab GTPase activator activity	g.chr12:72312286C>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1608C>T	12.37:g.72312286C>T						TBC1D15_uc010stt.1_Silent_p.F527F|TBC1D15_uc001swv.2_Silent_p.F541F|TBC1D15_uc001sww.2_Silent_p.F290F	p.F558F	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN			15	1683	+			536			Rab-GAP TBC.		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Silent	SNP	ENST00000550746.1	37	c.1674C>T	CCDS31858.1																																																																																				0.294	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2		NM_022771		27	92	0	0	0	0.003271	0	27	92		
NAV3	89795	broad.mit.edu	37	12	78400995	78400995	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:78400995G>A	ENST00000397909.2	+	8	1850	c.1677G>A	c.(1675-1677)ggG>ggA	p.G559G	NAV3_ENST00000266692.7_Silent_p.G559G|NAV3_ENST00000228327.6_Silent_p.G559G|NAV3_ENST00000536525.2_Silent_p.G559G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	559						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTACCAAGGGGAGCCCTTCCC	0.483										HNSCC(70;0.22)																												uc001syp.2		NaN																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1675-1677)GGG>GGA		neuron navigator 3							77.0	77.0	77.0					12																	78400995		1903	4120	6023	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400995G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1677G>A	12.37:g.78400995G>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.G559G	p.G559G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1850	+			559					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.1677G>A																																																																																					0.483	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383		19	46	0	0	0	0.014323	0	19	46		
LRRIQ1	84125	broad.mit.edu	37	12	85450069	85450069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:85450069G>A	ENST00000393217.2	+	8	1559	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	500										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGTCAAGCAAGAAAGAAAATA	0.303																																						uc001tac.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1498-1500)GAA>AAA		leucine-rich repeats and IQ motif containing 1							29.0	32.0	31.0					12																	85450069		2165	4248	6413	SO:0001583	missense	84125							g.chr12:85450069G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1498G>A	12.37:g.85450069G>A	ENSP00000376910:p.Glu500Lys					LRRIQ1_uc001tab.1_Missense_Mutation_p.E500K|LRRIQ1_uc001taa.1_Missense_Mutation_p.E475K	p.E500K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1609	+			500					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.1498G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638960	0.29157	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.54866	0.55	4.74	1.56	0.23342	.	0.703054	0.14241	N	0.332054	T	0.34513	0.0900	L	0.27053	0.805	0.09310	N	1	B;B	0.20887	0.001;0.049	B;B	0.15052	0.003;0.012	T	0.17137	-1.0379	10	0.26408	T	0.33	.	7.8201	0.29282	0.2963:0.0:0.7037:0.0	.	500;475	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	500;475;500	ENSP00000376910:E500K	ENSP00000256007:E500K	E	+	1	0	LRRIQ1	83974200	0.000000	0.05858	0.005000	0.12908	0.168000	0.22595	0.588000	0.23924	0.434000	0.26340	0.591000	0.81541	GAA		0.303	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165		10	37	0	0	0	0.001855	0	10	37		
UTP20	27340	broad.mit.edu	37	12	101682793	101682793	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:101682793G>C	ENST00000261637.4	+	6	745	c.571G>C	c.(571-573)Gaa>Caa	p.E191Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	191					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTTTGCTGCTGAAAGTTTTAC	0.328																																						uc001tia.1		NaN																	0				ovary(2)|breast(2)	4						c.(571-573)GAA>CAA		down-regulated in metastasis							75.0	76.0	76.0					12																	101682793		2202	4300	6502	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101682793G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.571G>C	12.37:g.101682793G>C	ENSP00000261637:p.Glu191Gln					UTP20_uc009ztz.1_Missense_Mutation_p.E191Q	p.E191Q	NM_014503	NP_055318	O75691	UTP20_HUMAN			6	727	+			191			HEAT 1.		Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.571G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716976	0.89205	.	.	ENSG00000120800	ENST00000261637	T	0.48836	0.8	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	M	0.74258	2.255	0.80722	D	1	P	0.48589	0.912	P	0.49708	0.62	T	0.62599	-0.6820	10	0.45353	T	0.12	-7.2848	19.393	0.94592	0.0:0.0:1.0:0.0	.	191	O75691	UTP20_HUMAN	Q	191	ENSP00000261637:E191Q	ENSP00000261637:E191Q	E	+	1	0	UTP20	100206924	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.449000	0.97603	2.597000	0.87782	0.563000	0.77884	GAA		0.328	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		8	29	0	0	0	0.006214	0	8	29		
UTP20	27340	broad.mit.edu	37	12	101767377	101767377	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:101767377G>C	ENST00000261637.4	+	54	7137	c.6963G>C	c.(6961-6963)gaG>gaC	p.E2321D		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2321					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGCTCCATGAGAACTGCGGAA	0.478																																						uc001tia.1		NaN																	0				ovary(2)|breast(2)	4						c.(6961-6963)GAG>GAC		down-regulated in metastasis							92.0	86.0	88.0					12																	101767377		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101767377G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6963G>C	12.37:g.101767377G>C	ENSP00000261637:p.Glu2321Asp						p.E2321D	NM_014503	NP_055318	O75691	UTP20_HUMAN			54	7119	+			2321					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.6963G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042223	0.35989	.	.	ENSG00000120800	ENST00000261637	T	0.64438	-0.1	5.96	4.02	0.46733	Armadillo-type fold (1);	0.414508	0.28815	N	0.014045	T	0.48786	0.1519	L	0.33485	1.01	0.40979	D	0.984762	B	0.06786	0.001	B	0.06405	0.002	T	0.46707	-0.9172	10	0.39692	T	0.17	-14.6896	10.3803	0.44108	0.0734:0.2556:0.6711:0.0	.	2321	O75691	UTP20_HUMAN	D	2321	ENSP00000261637:E2321D	ENSP00000261637:E2321D	E	+	3	2	UTP20	100291508	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.183000	0.42565	1.502000	0.48669	0.655000	0.94253	GAG		0.478	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		15	25	0	0	0	0.007413	0	15	25		
NT5DC3	51559	broad.mit.edu	37	12	104187715	104187715	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:104187715C>G	ENST00000392876.3	-	7	854	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q	NT5DC3_ENST00000465502.1_5'Flank	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	272						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GAGCACATACCAATGTCTGCT	0.413																																						uc010swe.1		NaN																	0				ovary(2)|skin(1)	3						c.(814-816)GAA>CAA		5'-nucleotidase domain containing 3							222.0	193.0	203.0					12																	104187715		2203	4300	6503	SO:0001630	splice_region_variant	51559						hydrolase activity|metal ion binding	g.chr12:104187715C>G	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.814+1G>C	12.37:g.104187715C>G							p.E272Q	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			7	855	-			272					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.814G>C	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171650	0.78452	.	.	ENSG00000111696	ENST00000392876	T	0.25414	1.8	5.73	5.73	0.89815	HAD-like domain (1);	0.240197	0.48286	D	0.000194	T	0.41743	0.1172	M	0.79123	2.44	0.80722	D	1	P	0.36837	0.571	B	0.42959	0.403	T	0.18085	-1.0348	9	.	.	.	-21.0307	19.8991	0.96978	0.0:1.0:0.0:0.0	.	272	Q86UY8	NT5D3_HUMAN	Q	272	ENSP00000376615:E272Q	.	E	-	1	0	NT5DC3	102711845	1.000000	0.71417	0.956000	0.39512	0.648000	0.38561	7.559000	0.82265	2.706000	0.92434	0.557000	0.71058	GAA		0.413	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2		NM_016575	Missense_Mutation	21	80	0	0	0	0.008361	0	21	80		
ACAD10	80724	broad.mit.edu	37	12	112123571	112123571	+	5'Flank	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:112123571C>G	ENST00000313698.4	+	0	0				ACAD10_ENST00000549590.1_5'Flank|BRAP_ENST00000419234.4_Missense_Mutation_p.R9P|BRAP_ENST00000327551.6_5'Flank|ACAD10_ENST00000392636.2_5'Flank|ACAD10_ENST00000455480.2_5'Flank	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10							mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GAGCTCCAATCGGATAACAAC	0.726																																						uc001tsn.3		NaN																	0				lung(1)	1						c.(25-27)CGA>CCA		BRCA1 associated protein							11.0	15.0	14.0					12																	112123571		2189	4270	6459	SO:0001631	upstream_gene_variant	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112123571C>G	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602		12.37:g.112123571C>G	Exception_encountered					BRAP_uc009zvv.2_5'Flank|ACAD10_uc009zvw.2_5'Flank|ACAD10_uc001tso.3_5'Flank|ACAD10_uc001tsp.2_5'Flank|ACAD10_uc009zvx.2_5'Flank|ACAD10_uc001tsq.2_5'Flank	p.R9P	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN			1	220	-			9					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.26G>C	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118568	0.56505	.	.	ENSG00000089234	ENST00000419234	T	0.51071	0.72	4.63	4.63	0.57726	.	0.070429	0.64402	D	0.000015	T	0.69637	0.3133	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.74197	-0.3743	10	0.72032	D	0.01	-1.0417	16.9888	0.86348	0.0:1.0:0.0:0.0	.	9	Q7Z569	BRAP_HUMAN	P	9	ENSP00000403524:R9P	ENSP00000403524:R9P	R	-	2	0	BRAP	110607954	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	6.180000	0.71981	2.547000	0.85894	0.462000	0.41574	CGA		0.726	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1		NM_025247		9	12	0	0	0	0.008291	0	9	12		
RNF10	9921	broad.mit.edu	37	12	121001720	121001720	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:121001720G>C	ENST00000325954.4	+	10	2100	c.1639G>C	c.(1639-1641)Gag>Cag	p.E547Q	RNF10_ENST00000413266.2_Missense_Mutation_p.E552Q	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	547					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACTGTGGTGGAGATTGCTGG	0.552																																						uc001typ.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1639-1641)GAG>CAG		ring finger protein 10							137.0	130.0	133.0					12																	121001720		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121001720G>C	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1639G>C	12.37:g.121001720G>C	ENSP00000322242:p.Glu547Gln					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.E458Q	p.E547Q	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			10	2122	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		547					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1639G>C	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815344	0.90790	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000540046	T;T;T	0.25579	1.79;1.79;1.79	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.11641	-1.0579	10	0.40728	T	0.16	.	19.851	0.96740	0.0:0.0:1.0:0.0	.	552;547	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	Q	547;547;552;91	ENSP00000322242:E547Q;ENSP00000415682:E552Q;ENSP00000439859:E91Q	ENSP00000322242:E547Q	E	+	1	0	RNF10	119486103	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.687000	0.91594	0.557000	0.71058	GAG		0.552	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4				19	153	0	0	0	0.004656	0	19	153		
KNTC1	9735	broad.mit.edu	37	12	123095437	123095437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:123095437C>T	ENST00000333479.7	+	53	5789	c.5612C>T	c.(5611-5613)tCa>tTa	p.S1871L	KNTC1_ENST00000537348.1_Missense_Mutation_p.S296L|KNTC1_ENST00000450485.2_Missense_Mutation_p.S796L|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1871					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTGCAACATCAACTACAACC	0.333																																						uc001ucv.2		NaN																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(5611-5613)TCA>TTA		Rough Deal homolog, centromere/kinetochore							104.0	99.0	100.0					12																	123095437		1860	4103	5963	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123095437C>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5612C>T	12.37:g.123095437C>T	ENSP00000328236:p.Ser1871Leu					KNTC1_uc010taf.1_Missense_Mutation_p.S796L	p.S1871L	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	53	5775	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1871					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.5612C>T	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748576	0.49257	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000537348;ENST00000546125	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.94	4.05	0.47172	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.168731	0.53938	D	0.000057	T	0.55878	0.1948	M	0.69823	2.125	0.44985	D	0.998008	D;P	0.71674	0.998;0.921	D;P	0.65684	0.937;0.728	T	0.60767	-0.7198	10	0.87932	D	0	-4.5741	12.605	0.56519	0.0:0.9191:0.0:0.0809	.	796;1871	E7ES84;P50748	.;KNTC1_HUMAN	L	796;1871;296;58	ENSP00000397992:S796L;ENSP00000328236:S1871L;ENSP00000443622:S296L;ENSP00000439119:S58L	ENSP00000328236:S1871L	S	+	2	0	KNTC1	121661390	1.000000	0.71417	0.128000	0.21923	0.100000	0.18952	4.801000	0.62532	1.211000	0.43351	0.650000	0.86243	TCA		0.333	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2				12	47	0	0	0	0.003163	0	12	47		
ULK1	8408	broad.mit.edu	37	12	132404537	132404537	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:132404537G>C	ENST00000321867.4	+	26	3168	c.2817G>C	c.(2815-2817)ctG>ctC	p.L939L	ULK1_ENST00000540647.1_Silent_p.L184L	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	939					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGCGCAGGCTGAATGAGCTGT	0.647																																						uc001uje.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2815-2817)CTG>CTC		Unc-51-like kinase 1							55.0	58.0	57.0					12																	132404537		2203	4299	6502	SO:0001819	synonymous_variant	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132404537G>C	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2817G>C	12.37:g.132404537G>C							p.L939L	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	26	3085	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		939					Q9UQ28	Silent	SNP	ENST00000321867.4	37	c.2817G>C	CCDS9274.1																																																																																				0.647	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3				9	48	0	0	0	0.010729	0	9	48		
MPHOSPH8	54737	broad.mit.edu	37	13	20242605	20242605	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:20242605C>G	ENST00000361479.5	+	11	2331	c.2263C>G	c.(2263-2265)Cga>Gga	p.R755G	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R755G	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	755					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CGCATGTCATCGACTCTGTGA	0.413																																						uc001umh.2		NaN																	0					0						c.(2263-2265)CGA>GGA		M-phase phosphoprotein 8							90.0	88.0	89.0					13																	20242605		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20242605C>G	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.2263C>G	13.37:g.20242605C>G	ENSP00000355388:p.Arg755Gly					MPHOSPH8_uc001umg.2_Missense_Mutation_p.R755G	p.R755G	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	11	2272	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	755					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.2263C>G	CCDS9287.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.76|18.76	3.691941|3.691941	0.68271|0.68271	.|.	.|.	ENSG00000196199|ENSG00000196199	ENST00000449056|ENST00000414242;ENST00000360754;ENST00000361479	.|T;T	.|0.39229	.|1.12;1.09	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.113126	.|0.64402	.|D	.|0.000014	T|T	0.51466|0.51466	0.1676|0.1676	N|N	0.24115|0.24115	0.695|0.695	0.49299|0.49299	D|D	0.999772|0.999772	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.54892|0.54892	-0.8225|-0.8225	5|10	.|0.87932	.|D	.|0	.|.	15.3488|15.3488	0.74368|0.74368	0.1402:0.8597:0.0:0.0|0.1402:0.8597:0.0:0.0	.|.	.|755;755	.|Q99549;Q99549-2	.|MPP8_HUMAN;.	M|G	25|755;84;755	.|ENSP00000414663:R755G;ENSP00000355388:R755G	.|ENSP00000353982:R84G	I|R	+|+	3|1	3|2	MPHOSPH8|MPHOSPH8	19140605|19140605	0.946000|0.946000	0.32159|0.32159	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.101000|2.101000	0.41787|0.41787	2.670000|2.670000	0.90874|0.90874	0.585000|0.585000	0.79938|0.79938	ATC|CGA		0.413	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2		NM_017520		10	32	0	0	0	0.006214	0	10	32		
XPO4	64328	broad.mit.edu	37	13	21442798	21442798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:21442798C>G	ENST00000255305.6	-	2	183	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000400602.2_Missense_Mutation_p.E38Q			Q9C0E2	XPO4_HUMAN	exportin 4	38					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AATATGTGCTCTGCATGCTGG	0.323																																						uc001unq.3		NaN																	0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(112-114)GAG>CAG		exportin 4							166.0	159.0	161.0					13																	21442798		1906	4124	6030	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21442798C>G	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.112G>C	13.37:g.21442798C>G	ENSP00000255305:p.Glu38Gln					XPO4_uc010tcr.1_Intron	p.E38Q	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	2	148	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	38					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.112G>C	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390293	0.95988	.	.	ENSG00000132953	ENST00000400602;ENST00000255305	T;T	0.72282	-0.64;-0.64	6.08	6.08	0.98989	Armadillo-type fold (1);	0.091979	0.64402	D	0.000001	D	0.85864	0.5796	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84225	0.0463	10	0.45353	T	0.12	-3.7807	20.6634	0.99662	0.0:1.0:0.0:0.0	.	38	Q9C0E2	XPO4_HUMAN	Q	38	ENSP00000383444:E38Q;ENSP00000255305:E38Q	ENSP00000255305:E38Q	E	-	1	0	XPO4	20340798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.080000	0.76837	2.894000	0.99253	0.655000	0.94253	GAG		0.323	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1		NM_022459		54	121	0	0	0	0.01441	0	54	121		
ATP12A	479	broad.mit.edu	37	13	25280593	25280593	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:25280593C>A	ENST00000381946.3	+	15	2328	c.2161C>A	c.(2161-2163)Cag>Aag	p.Q721K	ATP12A_ENST00000218548.6_Missense_Mutation_p.Q727K|RNY1P7_ENST00000384743.1_RNA			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	721					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GGAGGGCTGTCAGAGGCAGGT	0.567																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(2161-2163)CAG>AAG		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						81.0	63.0	69.0					13																	25280593		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25280593C>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2161C>A	13.37:g.25280593C>A	ENSP00000371372:p.Gln721Lys					ATP12A_uc010aaa.2_Missense_Mutation_p.Q727K	p.Q721K	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	15	2348	+		Lung SC(185;0.0225)|Breast(139;0.077)	721			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2161C>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096985	0.94197	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.96619	-4.07;-4.07	5.79	5.79	0.91817	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000002	D	0.97179	0.9078	L	0.42686	1.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.97799	1.0243	10	0.87932	D	0	.	17.5173	0.87777	0.0:1.0:0.0:0.0	.	727;721	P54707-2;P54707	.;AT12A_HUMAN	K	727;721	ENSP00000218548:Q727K;ENSP00000371372:Q721K	ENSP00000218548:Q727K	Q	+	1	0	ATP12A	24178593	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.726000	0.84824	2.727000	0.93392	0.563000	0.77884	CAG		0.567	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1		NM_001676		18	29	1	0	7.87624e-14	0.00278	8.5829e-14	18	29		
USPL1	10208	broad.mit.edu	37	13	31205593	31205593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:31205593C>T	ENST00000255304.4	+	4	1192	c.850C>T	c.(850-852)Caa>Taa	p.Q284*	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	284	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATATACCAGTCAATTGAGTGG	0.378																																					Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NaN																	0				pancreas(2)|skin(1)	3						c.(850-852)CAA>TAA		ubiquitin specific peptidase like 1							57.0	60.0	59.0					13																	31205593		2203	4300	6503	SO:0001587	stop_gained	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31205593C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.850C>T	13.37:g.31205593C>T	ENSP00000255304:p.Gln284*					USPL1_uc001utb.2_Nonsense_Mutation_p.Q103*|USPL1_uc001utd.2_Intron|USPL1_uc001ute.1_5'Flank	p.Q284*	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	4	1282	+		Lung SC(185;0.0257)|Breast(139;0.203)	284					Q14109|Q6AI45|Q8IY30|Q8IYE8	Nonsense_Mutation	SNP	ENST00000255304.4	37	c.850C>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012487	0.75161	.	.	ENSG00000132952	ENST00000255304	.	.	.	5.94	5.94	0.96194	.	0.416657	0.28515	N	0.015078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-1.0318	14.3703	0.66836	0.1565:0.8435:0.0:0.0	.	.	.	.	X	284	.	ENSP00000255304:Q284X	Q	+	1	0	USPL1	30103593	0.307000	0.24500	0.047000	0.18901	0.011000	0.07611	1.863000	0.39459	2.816000	0.96949	0.561000	0.74099	CAA		0.378	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1		NM_005800		20	62	0	0	0	0.00333	0	20	62		
FRY	10129	broad.mit.edu	37	13	32808828	32808828	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:32808828C>A	ENST00000380250.3	+	42	6141	c.5645C>A	c.(5644-5646)tCa>tAa	p.S1882*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1882						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAACCTCTGTCAGCACATGCC	0.512																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(5644-5646)TCA>TAA		furry homolog							109.0	105.0	106.0					13																	32808828		1989	4168	6157	SO:0001587	stop_gained	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32808828C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5645C>A	13.37:g.32808828C>A	ENSP00000369600:p.Ser1882*					FRY_uc010tdw.1_RNA	p.S1882*	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	42	6141	+		Lung SC(185;0.0271)	1882					Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	c.5645C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	49	16.062259	0.99853	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	.	.	.	6.07	6.07	0.98685	.	0.063961	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	1882;719	.	ENSP00000369600:S1882X	S	+	2	0	FRY	31706828	1.000000	0.71417	0.943000	0.38184	0.978000	0.69477	3.968000	0.56809	2.890000	0.99128	0.650000	0.86243	TCA		0.512	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		17	41	1	0	4.35082e-09	0.010504	4.63716e-09	17	41		
STOML3	161003	broad.mit.edu	37	13	39540963	39540963	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:39540963C>T	ENST00000379631.4	-	7	1219	c.875G>A	c.(874-876)tGa>tAa	p.*292*	STOML3_ENST00000423210.1_Silent_p.*283*	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	0					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		AAGAGGACCTCAGGCTTTATT	0.443																																						uc001uwx.2		NaN																	0				ovary(1)	1						c.(874-876)TGA>TAA		stomatin-like 3 isoform 1							90.0	88.0	89.0					13																	39540963		2203	4300	6503	SO:0001819	synonymous_variant	161003					integral to membrane|plasma membrane		g.chr13:39540963C>T	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.875G>A	13.37:g.39540963C>T						STOML3_uc010tez.1_Silent_p.*283*	p.*292*	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	7	1013	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	292					B4E285|Q5JS35	Silent	SNP	ENST00000379631.4	37	c.875G>A	CCDS9367.1																																																																																				0.443	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2				29	59	0	0	0	0.005524	0	29	59		
PCDH8	5100	broad.mit.edu	37	13	53419572	53419572	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:53419572G>C	ENST00000377942.3	-	2	3030	c.2827C>G	c.(2827-2829)Cac>Gac	p.H943D	PCDH8_ENST00000338862.4_Missense_Mutation_p.H846D	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	943					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCTGCATGTGGTTGATGAGA	0.532																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NaN																	0				breast(1)	1						c.(2827-2829)CAC>GAC		protocadherin 8 isoform 1 precursor							155.0	121.0	133.0					13																	53419572		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419572G>C	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2827C>G	13.37:g.53419572G>C	ENSP00000367177:p.His943Asp					PCDH8_uc001vhj.2_Missense_Mutation_p.H846D	p.H943D	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	2	3030	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	943			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2827C>G	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542502	0.45280	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.52983	0.7;0.64	5.3	5.3	0.74995	.	0.147702	0.31233	N	0.008006	T	0.44435	0.1293	L	0.52573	1.65	0.43879	D	0.996495	B;B	0.23058	0.062;0.079	B;B	0.26416	0.069;0.064	T	0.37502	-0.9703	10	0.10377	T	0.69	.	18.9486	0.92632	0.0:0.0:1.0:0.0	.	846;943	O95206-2;O95206	.;PCDH8_HUMAN	D	943;846;469;786	ENSP00000367177:H943D;ENSP00000341350:H846D	ENSP00000341350:H846D	H	-	1	0	PCDH8	52317573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.231000	0.78106	2.470000	0.83445	0.563000	0.77884	CAC		0.532	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2		NM_002590		29	39	0	0	0	0.013726	0	29	39		
DACH1	1602	broad.mit.edu	37	13	72053449	72053449	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:72053449C>T	ENST00000359684.2	-	9	1884		c.e9-1		DACH1_ENST00000305425.4_Splice_Site|DACH1_ENST00000354591.4_Splice_Site|DACH1_ENST00000313174.7_Splice_Site			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1						cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.?(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCAACAGCCCCTGTACAAAGA	0.358																																						uc010thn.1		NaN																	1	Unknown(1)		lung(1)	breast(1)	1						c.e9-1		dachshund homolog 1 isoform a							107.0	100.0	102.0					13																	72053449		1802	4076	5878	SO:0001630	splice_region_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72053449C>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1885-1G>A	13.37:g.72053449C>T						DACH1_uc010tho.1_Splice_Site_p.G427_splice|DACH1_uc010thp.1_Splice_Site_p.G373_splice	p.G575_splice	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	9	2146	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)						D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Splice_Site	SNP	ENST00000359684.2	37	c.1723_splice		.	.	.	.	.	.	.	.	.	.	C	23.5	4.418741	0.83559	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	.	.	.	5.83	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.894	0.70630	0.0:0.9316:0.0:0.0684	.	.	.	.	.	-1	.	.	.	-	.	.	DACH1	70951450	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	1.488000	0.48433	0.655000	0.94253	.		0.358	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1		NM_004392	Intron	26	109	0	0	0	0.003755	0	26	109		
RNF219	79596	broad.mit.edu	37	13	79190193	79190193	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:79190193G>C	ENST00000282003.6	-	6	1761	c.1703C>G	c.(1702-1704)tCa>tGa	p.S568*	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	568	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGATGACTTTGATAACCCATC	0.383																																						uc001vkw.1		NaN																	0				large_intestine(2)	2						c.(1702-1704)TCA>TGA		ring finger protein 219							116.0	120.0	118.0					13																	79190193		2203	4300	6503	SO:0001587	stop_gained	79596						zinc ion binding	g.chr13:79190193G>C	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1703C>G	13.37:g.79190193G>C	ENSP00000282003:p.Ser568*					uc001vku.1_RNA|RNF219_uc010afb.1_Nonsense_Mutation_p.S378*|RNF219_uc010afc.2_Intron	p.S568*	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	6	1762	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	568			Ser-rich.		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Nonsense_Mutation	SNP	ENST00000282003.6	37	c.1703C>G	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585100	0.86748	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.96	5.96	0.96718	.	0.127459	0.34777	N	0.003700	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.4614	10.0416	0.42162	0.0708:0.1387:0.7905:0.0	.	.	.	.	X	568	.	ENSP00000282003:S568X	S	-	2	0	RNF219	78088194	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	3.526000	0.53509	2.832000	0.97577	0.655000	0.94253	TCA		0.383	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1		NM_024546		63	133	0	0	0	0.01441	0	63	133		
CLYBL	171425	broad.mit.edu	37	13	100523272	100523272	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:100523272G>A	ENST00000376360.1	+	7	910	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	CLYBL_ENST00000339105.4_Missense_Mutation_p.E295K|CLYBL_ENST00000376354.1_Missense_Mutation_p.E261K|CLYBL_ENST00000376355.3_Missense_Mutation_p.E261K|CLYBL_ENST00000444838.2_Missense_Mutation_p.E261K			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	295						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.E295*(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAAGTGGGCTGAAGAACTGAT	0.393																																						uc001vok.2		NaN																	1	Substitution - Nonsense(1)		NS(1)		0						c.(883-885)GAA>AAA		citrate lyase beta like precursor							99.0	93.0	95.0					13																	100523272		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100523272G>A	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.883G>A	13.37:g.100523272G>A	ENSP00000365538:p.Glu295Lys					CLYBL_uc010tiy.1_Missense_Mutation_p.E261K	p.E295K	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			7	897	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		295					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.883G>A	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471844	0.26423	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105;ENST00000419700;ENST00000425186	T;T;T;T;T;T	0.42900	1.98;1.98;1.99;1.98;1.98;0.96	5.7	2.65	0.31530	.	0.311720	0.39020	N	0.001497	T	0.15955	0.0384	N	0.10629	0.01	0.32239	N	0.57294	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.28459	-1.0043	10	0.02654	T	1	-0.0158	6.1591	0.20354	0.194:0.3543:0.4517:0.0	.	261;295	B4DU60;Q8N0X4	.;CLYBL_HUMAN	K	261;295;261;261;295;58;1	ENSP00000365533:E261K;ENSP00000365538:E295K;ENSP00000404768:E261K;ENSP00000365532:E261K;ENSP00000342991:E295K;ENSP00000396574:E58K	ENSP00000342991:E295K	E	+	1	0	CLYBL	99321273	0.762000	0.28451	0.998000	0.56505	0.998000	0.95712	1.208000	0.32345	1.391000	0.46566	0.655000	0.94253	GAA		0.393	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1				22	69	0	0	0	0.00333	0	22	69		
SALL2	6297	broad.mit.edu	37	14	21991095	21991095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:21991095G>A	ENST00000327430.3	-	2	3061	c.2767C>T	c.(2767-2769)Cag>Tag	p.Q923*	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Nonsense_Mutation_p.Q786*|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	923					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGAGCTGCCTGGGAGGGAAAG	0.597																																						uc001wbe.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(2767-2769)CAG>TAG		sal-like 2							63.0	65.0	65.0					14																	21991095		2203	4300	6503	SO:0001587	stop_gained	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991095G>A	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2767C>T	14.37:g.21991095G>A	ENSP00000333537:p.Gln923*					SALL2_uc010tly.1_Nonsense_Mutation_p.Q921*|SALL2_uc010tlz.1_Nonsense_Mutation_p.Q786*|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Nonsense_Mutation_p.Q788*|SALL2_uc001wbg.1_Intron	p.Q923*	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	3049	-	all_cancers(95;0.000662)		923			C2H2-type 6.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Nonsense_Mutation	SNP	ENST00000327430.3	37	c.2767C>T	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	G	36	5.707331	0.96821	.	.	ENSG00000165821	ENST00000327430;ENST00000450879	.	.	.	4.79	4.79	0.61399	.	0.433846	0.16996	N	0.191095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-17.5251	8.8597	0.35249	0.0997:0.0:0.9003:0.0	.	.	.	.	X	923;786	.	ENSP00000333537:Q923X	Q	-	1	0	SALL2	21060935	1.000000	0.71417	0.141000	0.22245	0.486000	0.33341	4.261000	0.58841	2.480000	0.83734	0.563000	0.77884	CAG		0.597	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1		NM_005407		27	68	0	0	0	0.00632	0	27	68		
LRP10	26020	broad.mit.edu	37	14	23342569	23342569	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:23342569G>C	ENST00000359591.4	+	3	820	c.129G>C	c.(127-129)caG>caC	p.Q43H	LRP10_ENST00000546834.1_Missense_Mutation_p.Q43H	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	43	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCACCTTACAGAGGCCCCTGG	0.602																																						uc001whd.2		NaN																	0				central_nervous_system(1)	1						c.(127-129)CAG>CAC		low density lipoprotein receptor-related protein							62.0	63.0	63.0					14																	23342569		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23342569G>C	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.129G>C	14.37:g.23342569G>C	ENSP00000352601:p.Gln43His					LRP10_uc001whe.2_5'Flank	p.Q43H	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	3	682	+	all_cancers(95;4.69e-05)		43			CUB 1.|Extracellular (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.129G>C	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294677	0.60086	.	.	ENSG00000197324	ENST00000359591;ENST00000546834	T;T	0.28454	1.61;1.61	5.75	3.61	0.41365	CUB (3);	0.150828	0.44688	D	0.000428	T	0.14917	0.0360	N	0.17082	0.46	0.32649	N	0.519653	B	0.26744	0.158	B	0.17433	0.018	T	0.18493	-1.0335	10	0.14252	T	0.57	-14.0592	8.1948	0.31389	0.1646:0.1359:0.6994:0.0	.	43	Q7Z4F1	LRP10_HUMAN	H	43	ENSP00000352601:Q43H;ENSP00000447559:Q43H	ENSP00000352601:Q43H	Q	+	3	2	LRP10	22412409	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.844000	0.39269	1.430000	0.47334	0.563000	0.77884	CAG		0.602	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3				26	53	0	0	0	0.005443	0	26	53		
ACIN1	22985	broad.mit.edu	37	14	23530572	23530572	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:23530572G>C	ENST00000262710.1	-	17	3860	c.3533C>G	c.(3532-3534)tCa>tGa	p.S1178*	ACIN1_ENST00000457657.1_Nonsense_Mutation_p.S1138*|ACIN1_ENST00000397341.3_Nonsense_Mutation_p.S420*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.S1120*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.S451*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.S1165*|ACIN1_ENST00000357481.2_Nonsense_Mutation_p.S420*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.S419*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1178	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACGGGACCTTGATCGGGAACG	0.567																																						uc001wit.3		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(3532-3534)TCA>TGA		apoptotic chromatin condensation inducer 1							129.0	136.0	134.0					14																	23530572		2203	4300	6503	SO:0001587	stop_gained	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530572G>C	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3533C>G	14.37:g.23530572G>C	ENSP00000262710:p.Ser1178*					ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Nonsense_Mutation_p.S420*|ACIN1_uc001wiq.3_Nonsense_Mutation_p.S420*|ACIN1_uc001wir.3_Nonsense_Mutation_p.S451*|ACIN1_uc001wis.3_Nonsense_Mutation_p.S859*|ACIN1_uc010akg.2_Nonsense_Mutation_p.S1165*	p.S1178*	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3861	-	all_cancers(95;1.36e-05)		1178			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Nonsense_Mutation	SNP	ENST00000262710.1	37	c.3533C>G	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	44	11.136616	0.99521	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	.	.	.	4.79	4.79	0.61399	.	0.000000	0.32970	N	0.005431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-7.2831	17.115	0.86686	0.0:0.0:1.0:0.0	.	.	.	.	X	419;451;420;1178;1138;420;1165	.	ENSP00000262710:S1178X	S	-	2	0	ACIN1	22600412	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	7.957000	0.87870	2.627000	0.88993	0.563000	0.77884	TCA		0.567	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977		33	105	0	0	0	0.00623	0	33	105		
MYH6	4624	broad.mit.edu	37	14	23858626	23858626	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:23858626T>G	ENST00000356287.3	-	27	3983	c.3954A>C	c.(3952-3954)aaA>aaC	p.K1318N	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.K1318N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1318					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGCTGCCTTTTGAGGTCCT	0.607																																						uc001wjv.2		NaN																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(3952-3954)AAA>AAC		myosin heavy chain 6							72.0	72.0	72.0					14																	23858626		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23858626T>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3954A>C	14.37:g.23858626T>G	ENSP00000348634:p.Lys1318Asn					uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	p.K1318N	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	28	4021	-	all_cancers(95;2.54e-05)		1318			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.3954A>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	t	19.74	3.884595	0.72410	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.81163	-1.46;-1.46	4.63	2.27	0.28462	Myosin tail (1);	.	.	.	.	D	0.89612	0.6765	M	0.92833	3.35	0.43296	D	0.995284	D	0.53885	0.963	P	0.62298	0.9	D	0.88784	0.3273	9	0.72032	D	0.01	.	9.7982	0.40748	0.0:0.8039:0.0:0.1961	.	1318	P13533	MYH6_HUMAN	N	1318	ENSP00000386041:K1318N;ENSP00000348634:K1318N	ENSP00000348634:K1318N	K	-	3	2	MYH6	22928466	0.997000	0.39634	1.000000	0.80357	0.964000	0.63967	0.557000	0.23454	0.229000	0.21039	-0.408000	0.06270	AAA		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3				16	124	0	0	0	0.006122	0	16	124		
MYH7	4625	broad.mit.edu	37	14	23891402	23891402	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:23891402C>G	ENST00000355349.3	-	25	3394	c.3232G>C	c.(3232-3234)Gag>Cag	p.E1078Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1078					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCAGCCGCTCATCCAGCTGC	0.592																																						uc001wjx.2		NaN																	0				ovary(3)|skin(1)	4						c.(3232-3234)GAG>CAG		myosin, heavy chain 7, cardiac muscle, beta							152.0	119.0	130.0					14																	23891402		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23891402C>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3232G>C	14.37:g.23891402C>G	ENSP00000347507:p.Glu1078Gln						p.E1078Q	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	25	3338	-	all_cancers(95;2.54e-05)		1078			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3232G>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.841819	0.91197	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83837	-1.77	4.86	4.86	0.63082	Myosin tail (1);	.	.	.	.	D	0.90601	0.7053	M	0.79123	2.44	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.89884	0.4032	9	0.41790	T	0.15	.	18.5312	0.90993	0.0:1.0:0.0:0.0	.	1078	P12883	MYH7_HUMAN	Q	1078	ENSP00000347507:E1078Q	ENSP00000347507:E1078Q	E	-	1	0	MYH7	22961242	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.466000	0.80914	2.702000	0.92279	0.655000	0.94253	GAG		0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257		27	89	0	0	0	0.003271	0	27	89		
RABGGTA	5875	broad.mit.edu	37	14	24738898	24738898	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:24738898G>A	ENST00000399409.3	-	5	913	c.430C>T	c.(430-432)Cac>Tac	p.H144Y	RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000216840.6_Missense_Mutation_p.H144Y|RABGGTA_ENST00000560777.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	144					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TCCCAGCAGTGAACTGGAGGG	0.587																																						uc001wof.2		NaN																	0					0						c.(430-432)CAC>TAC		Rab geranylgeranyltransferase alpha							28.0	34.0	32.0					14																	24738898		2028	4167	6195	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24738898G>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.430C>T	14.37:g.24738898G>A	ENSP00000382341:p.His144Tyr					RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.H144Y|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	p.H144Y	NM_004581	NP_004572	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	5	852	-			144			PFTA 3.		A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.430C>T	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425897	0.83667	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.56275	0.47;0.47	5.41	5.41	0.78517	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.81494	0.4834	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87102	0.2179	10	0.87932	D	0	-20.6824	17.9632	0.89092	0.0:0.0:1.0:0.0	.	144	Q92696	PGTA_HUMAN	Y	144;144;107	ENSP00000216840:H144Y;ENSP00000382341:H144Y	ENSP00000216840:H144Y	H	-	1	0	RABGGTA	23808738	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.424000	0.90267	2.536000	0.85505	0.462000	0.41574	CAC		0.587	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5		NM_182836		11	13	0	0	0	0.013537	0	11	13		
CDKL1	8814	broad.mit.edu	37	14	50825768	50825768	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:50825768C>T	ENST00000216378.2	-	3	915	c.271G>A	c.(271-273)Gag>Aag	p.E91K	CDKL1_ENST00000395834.1_Missense_Mutation_p.E91K|CDKL1_ENST00000356146.1_5'UTR	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					CTGTCCAACTCATGGAGAACT	0.453																																						uc010anu.1		NaN																	0				ovary(1)|stomach(1)	2						c.(2083-2085)GAG>AAG		cyclin-dependent kinase-like 1							163.0	148.0	153.0					14																	50825768		2203	4300	6503	SO:0001583	missense	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50825768C>T	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.271G>A	14.37:g.50825768C>T	ENSP00000216378:p.Glu91Lys					CDKL1_uc001wxz.2_Missense_Mutation_p.E91K	p.E695K	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			14	2083	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		90			Protein kinase.		Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000216378.2	37	c.2083G>A		.	.	.	.	.	.	.	.	.	.	C	29.0	4.966415	0.92855	.	.	ENSG00000100490	ENST00000395834;ENST00000216378	T;T	0.43688	0.94;0.94	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.56046	0.1959	L	0.41710	1.295	0.80722	D	1	D;P	0.89917	1.0;0.953	D;D	0.85130	0.997;0.969	T	0.47911	-0.9080	9	0.30854	T	0.27	.	17.9689	0.89107	0.0:1.0:0.0:0.0	.	695;90	Q00532-2;Q00532	.;CDKL1_HUMAN	K	91	ENSP00000379176:E91K;ENSP00000216378:E91K	ENSP00000216378:E91K	E	-	1	0	CDKL1	49895518	1.000000	0.71417	0.954000	0.39281	0.993000	0.82548	5.541000	0.67212	2.702000	0.92279	0.655000	0.94253	GAG		0.453	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1				50	145	0	0	0	0.01441	0	50	145		
TXNDC16	57544	broad.mit.edu	37	14	52905928	52905928	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:52905928G>C	ENST00000281741.4	-	20	2559	c.2188C>G	c.(2188-2190)Cat>Gat	p.H730D	TXNDC16_ENST00000554399.1_5'Flank	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	730					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TTACTGATATGATTTTCTAGT	0.333																																						uc001wzs.2		NaN																	0					0						c.(2188-2190)CAT>GAT		thioredoxin domain containing 16 isoform 1							78.0	77.0	77.0					14																	52905928		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52905928G>C	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.2188C>G	14.37:g.52905928G>C	ENSP00000281741:p.His730Asp					TXNDC16_uc010tqu.1_Missense_Mutation_p.H725D|TXNDC16_uc010aoe.2_RNA	p.H730D	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			20	2637	-	Breast(41;0.0716)		730					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.2188C>G	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348960	0.41599	.	.	ENSG00000087301	ENST00000281741	T	0.17213	2.29	5.33	5.33	0.75918	.	0.358905	0.28420	N	0.015403	T	0.17619	0.0423	L	0.40543	1.245	0.20403	N	0.999907	B;B	0.13145	0.007;0.002	B;B	0.15052	0.012;0.007	T	0.09058	-1.0692	10	0.35671	T	0.21	-4.9873	17.5681	0.87926	0.0:0.0:1.0:0.0	.	725;730	B7ZME4;Q9P2K2	.;TXD16_HUMAN	D	730	ENSP00000281741:H730D	ENSP00000281741:H730D	H	-	1	0	TXNDC16	51975678	0.980000	0.34600	0.804000	0.32291	0.967000	0.64934	4.581000	0.60949	2.468000	0.83385	0.585000	0.79938	CAT		0.333	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1		XM_051699		9	41	0	0	0	0.008291	0	9	41		
GMFB	2764	broad.mit.edu	37	14	54950455	54950455	+	Nonsense_Mutation	SNP	C	C	A	rs373310072		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:54950455C>A	ENST00000358056.3	-	2	302	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	GMFB_ENST00000553566.1_5'UTR|GMFB_ENST00000554908.1_Nonsense_Mutation_p.E12*	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	12	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of protein kinase activity (GO:0006469)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						ACTAAATCTTCGGCAACATCA	0.338																																						uc010tqz.1		NaN																	0					0						c.(34-36)GAA>TAA		glia maturation factor, beta		C	stop/GLU	1,4403	2.1+/-5.4	0,1,2201	66.0	61.0	62.0		34	5.4	1.0	14		62	0,8600		0,0,4300	no	stop-gained	GMFB	NM_004124.2		0,1,6501	AA,AC,CC		0.0,0.0227,0.0077		12/143	54950455	1,13003	2202	4300	6502	SO:0001587	stop_gained	2764				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity	g.chr14:54950455C>A	M86492	CCDS9718.1	14q22.2	2010-07-06			ENSG00000197045	ENSG00000197045			4373	protein-coding gene	gene with protein product		601713				1712830	Standard	NM_004124		Approved	GMF	uc021rtf.1	P60983	OTTHUMG00000140307	ENST00000358056.3:c.34G>T	14.37:g.54950455C>A	ENSP00000350757:p.Glu12*					GMFB_uc001xaw.1_RNA	p.E12*	NM_004124	NP_004115	P60983	GMFB_HUMAN			2	133	-			12			ADF-H.		B2R499|P17774|Q9BS35	Nonsense_Mutation	SNP	ENST00000358056.3	37	c.34G>T	CCDS9718.1	.	.	.	.	.	.	.	.	.	.	C	37	6.555396	0.97658	2.27E-4	0.0	ENSG00000197045	ENST00000554908;ENST00000358056;ENST00000354747;ENST00000553333	.	.	.	5.45	5.45	0.79879	.	0.095373	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-3.0951	18.6184	0.91312	0.0:1.0:0.0:0.0	.	.	.	.	X	12;12;12;24	.	ENSP00000346789:E12X	E	-	1	0	GMFB	54020205	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.475000	0.66787	2.718000	0.92993	0.591000	0.81541	GAA		0.338	GMFB-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276903.2		NM_004124		11	29	1	0	3.32936e-07	0.006122	3.50364e-07	11	29		
ARID4A	5926	broad.mit.edu	37	14	58831818	58831818	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:58831818C>G	ENST00000355431.3	+	20	3384	c.3011C>G	c.(3010-3012)tCa>tGa	p.S1004*	ARID4A_ENST00000348476.3_Nonsense_Mutation_p.S1004*|ARID4A_ENST00000395168.3_Nonsense_Mutation_p.S1004*|ARID4A_ENST00000431317.2_Nonsense_Mutation_p.S1004*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1004					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATAACTTTTCAGTAGCTTCA	0.403																																						uc001xdp.2		NaN																	0				ovary(3)|skin(2)|lung(1)	6						c.(3010-3012)TCA>TGA		retinoblastoma-binding protein 1 isoform I							149.0	141.0	144.0					14																	58831818		2203	4300	6503	SO:0001587	stop_gained	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831818C>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3011C>G	14.37:g.58831818C>G	ENSP00000347602:p.Ser1004*					ARID4A_uc001xdo.2_Nonsense_Mutation_p.S1004*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.S1004*|ARID4A_uc010apg.1_Nonsense_Mutation_p.S682*	p.S1004*	NM_002892	NP_002883	P29374	ARI4A_HUMAN			20	3265	+			1004					Q15991|Q15992|Q15993	Nonsense_Mutation	SNP	ENST00000355431.3	37	c.3011C>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	43	10.414443	0.99401	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	.	.	.	5.22	5.22	0.72569	.	0.278041	0.29080	N	0.013201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.5276	18.7849	0.91951	0.0:1.0:0.0:0.0	.	.	.	.	X	1004;1004;1004;1004;682	.	ENSP00000344556:S1004X	S	+	2	0	ARID4A	57901571	0.259000	0.24043	0.921000	0.36526	0.982000	0.71751	3.661000	0.54503	2.457000	0.83068	0.557000	0.71058	TCA		0.403	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2		NM_023001		19	170	0	0	0	0.010504	0	19	170		
KIAA0586	9786	broad.mit.edu	37	14	58895165	58895165	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:58895165G>C	ENST00000556134.1	+	2	412	c.138G>C	c.(136-138)ttG>ttC	p.L46F	RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000395159.2_5'Flank|TIMM9_ENST00000556007.2_5'Flank|TIMM9_ENST00000555593.1_5'Flank|TIMM9_ENST00000216463.4_5'Flank|KIAA0586_ENST00000261244.5_Missense_Mutation_p.L61F|KIAA0586_ENST00000423743.3_Intron|KIAA0586_ENST00000354386.6_Missense_Mutation_p.L73F|TIMM9_ENST00000555404.1_5'Flank	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGACTAGTTTGAATGGAACAT	0.383																																						uc001xdv.3		NaN																	0				ovary(1)	1						c.(181-183)TTG>TTC		talpid3 protein							130.0	119.0	123.0					14																	58895165		2004	4164	6168	SO:0001583	missense	9786							g.chr14:58895165G>C	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.138G>C	14.37:g.58895165G>C	ENSP00000452351:p.Leu46Phe					KIAA0586_uc010trr.1_Missense_Mutation_p.L61F|KIAA0586_uc001xdt.3_Intron|KIAA0586_uc001xdu.3_Missense_Mutation_p.L46F|KIAA0586_uc010trs.1_Intron|TIMM9_uc010aph.2_5'Flank|TIMM9_uc001xds.2_5'Flank|TIMM9_uc010api.2_5'Flank	p.L61F	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			1	456	+			61					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.183G>C	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	6.378	0.437846	0.12104	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000261244	T;T;T	0.49720	0.77;0.81;0.82	4.52	-4.63	0.03359	.	1.622190	0.03519	N	0.220737	T	0.34803	0.0910	.	.	.	0.09310	N	1	P;B;B	0.37636	0.603;0.343;0.343	B;B;B	0.42422	0.387;0.225;0.225	T	0.19679	-1.0298	9	0.38643	T	0.18	.	0.39	0.00409	0.3399:0.2376:0.2274:0.195	.	73;61;46	E7EWM8;E9PGW8;Q9BVV6	.;.;K0586_HUMAN	F	73;46;61	ENSP00000346359:L73F;ENSP00000452351:L46F;ENSP00000261244:L61F	ENSP00000261244:L61F	L	+	3	2	KIAA0586	57964918	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.850000	0.04317	-0.974000	0.03550	-0.140000	0.14226	TTG		0.383	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1		NM_014749		20	55	0	0	0	0.004656	0	20	55		
PPP2R5E	5529	broad.mit.edu	37	14	63851225	63851225	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:63851225G>C	ENST00000337537.3	-	12	1741	c.1139C>G	c.(1138-1140)tCt>tGt	p.S380C	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S380C|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.S304C	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	380					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GATGACGTTAGAGTTTTCTTC	0.363																																						uc001xgd.1		NaN																	0				ovary(1)	1						c.(1138-1140)TCT>TGT		epsilon isoform of regulatory subunit B56,							117.0	124.0	122.0					14																	63851225		2203	4300	6503	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63851225G>C	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.1139C>G	14.37:g.63851225G>C	ENSP00000337641:p.Ser380Cys					PPP2R5E_uc010tsf.1_Missense_Mutation_p.S304C|PPP2R5E_uc010tsg.1_Missense_Mutation_p.S304C|PPP2R5E_uc001xge.2_Missense_Mutation_p.S380C|PPP2R5E_uc010tsh.1_Missense_Mutation_p.S380C|PPP2R5E_uc001xgf.1_RNA	p.S380C	NM_006246	NP_006237	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	12	1729	-			380					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.1139C>G	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636376	0.47049	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	L	0.55481	1.735	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.13407	0.009;0.008	T	0.59789	-0.7388	9	0.33141	T	0.24	-7.4744	18.8009	0.92016	0.0:0.0:1.0:0.0	.	380;380	B7ZKK9;Q16537	.;2A5E_HUMAN	C	380;380;304	.	ENSP00000337641:S380C	S	-	2	0	PPP2R5E	62920978	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	8.000000	0.88501	2.498000	0.84270	0.655000	0.94253	TCT		0.363	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1		NM_006246		47	123	0	0	0	0.01441	0	47	123		
SYNE2	23224	broad.mit.edu	37	14	64518876	64518876	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:64518876G>A	ENST00000344113.4	+	48	8457	c.8245G>A	c.(8245-8247)Gaa>Aaa	p.E2749K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E2782K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E2749K|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2749					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGTTGGGTGAACTTAATCC	0.413																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(8245-8247)GAA>AAA		spectrin repeat containing, nuclear envelope 2							209.0	193.0	198.0					14																	64518876		1914	4118	6032	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518876G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8245G>A	14.37:g.64518876G>A	ENSP00000341781:p.Glu2749Lys					SYNE2_uc001xgl.2_Missense_Mutation_p.E2749K	p.E2749K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8475	+			2749			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8245G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	7.504	0.653206	0.14580	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.33865	1.39;1.39;1.39	5.34	2.54	0.30619	.	0.559015	0.16575	N	0.208452	T	0.20251	0.0487	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.13145	0.004;0.007	B;B	0.15052	0.005;0.012	T	0.14420	-1.0473	10	0.29301	T	0.29	.	1.2865	0.02052	0.2467:0.2128:0.4029:0.1376	.	2749;2749	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	K	2749;2749;2782;2782	ENSP00000350719:E2749K;ENSP00000341781:E2749K;ENSP00000452570:E2782K	ENSP00000261678:E2782K	E	+	1	0	SYNE2	63588629	0.001000	0.12720	0.002000	0.10522	0.076000	0.17211	1.032000	0.30178	0.641000	0.30601	0.467000	0.42956	GAA		0.413	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		61	199	0	0	0	0.01441	0	61	199		
TTC8	123016	broad.mit.edu	37	14	89336504	89336504	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:89336504C>G	ENST00000345383.5	+	10	1065	c.981C>G	c.(979-981)ttC>ttG	p.F327L	TTC8_ENST00000354441.6_Missense_Mutation_p.F72L|TTC8_ENST00000338104.6_Missense_Mutation_p.F353L|TTC8_ENST00000358622.5_Missense_Mutation_p.F139L|TTC8_ENST00000536576.1_Missense_Mutation_p.F98L|TTC8_ENST00000380656.2_Missense_Mutation_p.F337L|TTC8_ENST00000346301.4_Missense_Mutation_p.F297L	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	363					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCAACCACTTCTATTCTGATC	0.363																																						uc010ath.2		NaN																	0					0						c.(1057-1059)TTC>TTG		tetratricopeptide repeat domain 8 isoform B							173.0	161.0	165.0					14																	89336504		2203	4300	6503	SO:0001583	missense	123016	Bardet-Biedl_syndrome			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89336504C>G	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.981C>G	14.37:g.89336504C>G	ENSP00000339486:p.Phe327Leu					TTC8_uc001xxl.2_Missense_Mutation_p.F98L|TTC8_uc010ati.2_Missense_Mutation_p.F139L|TTC8_uc001xxm.2_Missense_Mutation_p.F297L|TTC8_uc010atj.2_Missense_Mutation_p.F72L|TTC8_uc001xxi.2_Missense_Mutation_p.F337L|TTC8_uc001xxj.2_Missense_Mutation_p.F327L|TTC8_uc001xxk.2_Missense_Mutation_p.F297L	p.F353L	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			11	1193	+			363			TPR 5.		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1059C>G	CCDS9885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.1|21.1|21.1	4.101188|4.101188|4.101188	0.76983|0.76983|0.76983	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000557580|ENST00000554686	T;T;T;T;T;T;T|.|.	0.50548|.|.	0.79;0.74;0.79;0.79;0.74;0.79;0.79|.|.	5.62|5.62|5.62	-2.87|-2.87|-2.87	0.05700|0.05700|0.05700	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.74981|0.74981|0.74981	0.3788|0.3788|0.3788	M|M|M	0.86028|0.86028|0.86028	2.79|2.79|2.79	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	D;D;D;D;D|.|.	0.89917|.|.	0.999;0.995;0.982;1.0;0.997|.|.	D;P;D;D;D|.|.	0.85130|.|.	0.997;0.893;0.952;0.997;0.95|.|.	T|T|T	0.76737|0.76737|0.76737	-0.2849|-0.2849|-0.2849	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	-19.4129|-19.4129|-19.4129	14.9953|14.9953|14.9953	0.71428|0.71428|0.71428	0.0:0.5842:0.0:0.4158|0.0:0.5842:0.0:0.4158|0.0:0.5842:0.0:0.4158	.|.|.	72;98;363;307;337|.|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.|.	.;.;TTC8_HUMAN;.;.|.|.	L|V|C	327;98;297;353;72;337;139|126|287	ENSP00000339486:F327L;ENSP00000445067:F98L;ENSP00000298324:F297L;ENSP00000337653:F353L;ENSP00000346427:F72L;ENSP00000370031:F337L;ENSP00000351439:F139L|.|.	ENSP00000337653:F353L|.|.	F|L|S	+|+|+	3|1|2	2|2|0	TTC8|TTC8|TTC8	88406257|88406257|88406257	0.990000|0.990000|0.990000	0.36364|0.36364|0.36364	0.963000|0.963000|0.963000	0.40424|0.40424|0.40424	0.983000|0.983000|0.983000	0.72400|0.72400|0.72400	0.229000|0.229000|0.229000	0.17833|0.17833|0.17833	-0.838000|-0.838000|-0.838000	0.04218|0.04218|0.04218	-0.266000|-0.266000|-0.266000	0.10368|0.10368|0.10368	TTC|CTA|TCT		0.363	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1		NM_144596		94	131	0	0	0	0.01441	0	94	131		
TDP1	55775	broad.mit.edu	37	14	90429788	90429788	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:90429788C>G	ENST00000335725.4	+	3	580	c.330C>G	c.(328-330)atC>atG	p.I110M	TDP1_ENST00000393454.2_Missense_Mutation_p.I110M|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.I110M|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000555880.1_Missense_Mutation_p.I110M	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	110					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AAGTGGTGATCAAAAAGGAGA	0.542								Repair of DNA-protein crosslinks																														uc001xxy.2		NaN																	0				ovary(2)	2						c.(328-330)ATC>ATG	Repair_of_DNA-protein_crosslinks	tyrosyl-DNA phosphodiesterase 1							61.0	68.0	65.0					14																	90429788		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90429788C>G	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.330C>G	14.37:g.90429788C>G	ENSP00000337353:p.Ile110Met					TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.I110M|TDP1_uc010atn.2_Missense_Mutation_p.I110M|TDP1_uc001xya.2_Translation_Start_Site|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.I110M|TDP1_uc001xyc.1_Missense_Mutation_p.I110M	p.I110M	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	3	629	+		all_cancers(154;0.185)	110					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.330C>G	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.080921	0.20309	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000556867;ENST00000553527;ENST00000553989;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T;T;T;T	0.31769	1.48;2.23;1.73;2.17;1.73;1.79;1.8;1.8;1.88;1.5	5.36	3.05	0.35203	.	1.125280	0.06327	N	0.705422	T	0.19886	0.0478	L	0.29908	0.895	0.19945	N	0.999942	B;B;P;B	0.37985	0.131;0.08;0.613;0.033	B;B;B;B	0.33196	0.101;0.047;0.159;0.021	T	0.22941	-1.0202	10	0.46703	T	0.11	-20.8127	2.1828	0.03879	0.2474:0.3569:0.2812:0.1144	.	110;110;110;110	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	M	110;110;110;11;110;110;110;110;110;110	ENSP00000377098:I110M;ENSP00000450872:I110M;ENSP00000377099:I110M;ENSP00000450708:I11M;ENSP00000337353:I110M;ENSP00000452279:I110M;ENSP00000451358:I110M;ENSP00000452333:I110M;ENSP00000452183:I110M;ENSP00000450628:I110M	ENSP00000337353:I110M	I	+	3	3	TDP1	89499541	0.008000	0.16893	0.006000	0.13384	0.057000	0.15508	0.116000	0.15561	0.352000	0.24053	0.561000	0.74099	ATC		0.542	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1		NM_018319		24	53	0	0	0	0.004656	0	24	53		
GPR68	8111	broad.mit.edu	37	14	91701248	91701248	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:91701248C>G	ENST00000531499.2	-	2	486	c.147G>C	c.(145-147)caG>caC	p.Q49H	GPR68_ENST00000238699.3_Missense_Mutation_p.Q59H|GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Missense_Mutation_p.Q49H			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	49					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GGGCCTTGATCTGCAGGTAGC	0.622																																						uc001xzg.2		NaN																	0		p.N49S(1)		kidney(1)	1						c.(145-147)CAG>CAC		G protein-coupled receptor 68							72.0	68.0	69.0					14																	91701248		2203	4300	6503	SO:0001583	missense	8111				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91701248C>G	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.147G>C	14.37:g.91701248C>G	ENSP00000434045:p.Gln49His					GPR68_uc001xzh.2_Missense_Mutation_p.Q59H	p.Q49H	NM_003485	NP_003476	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	488	-		all_cancers(154;0.0555)	49			Cytoplasmic (Potential).		Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.147G>C	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435390	0.62955	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.54	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	L	0.53780	1.695	0.44754	D	0.997758	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73411	-0.3991	10	0.22706	T	0.39	.	9.1624	0.37030	0.1472:0.7802:0.0:0.0726	.	49;49	Q6NWR5;Q15743	.;OGR1_HUMAN	H	49;59;49;49	ENSP00000434045:Q49H;ENSP00000238699:Q59H;ENSP00000440797:Q49H;ENSP00000432740:Q49H	ENSP00000238699:Q59H	Q	-	3	2	GPR68	90771001	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.130000	0.50508	1.316000	0.45131	0.655000	0.94253	CAG		0.622	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2				15	32	0	0	0	0.010504	0	15	32		
TRIP11	9321	broad.mit.edu	37	14	92471718	92471718	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:92471718C>G	ENST00000267622.4	-	11	2975	c.2602G>C	c.(2602-2604)Gaa>Caa	p.E868Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	868					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CGTTCCAATTCTTCTTGCAGA	0.418			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NaN		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2602-2604)GAA>CAA		thyroid hormone receptor interactor 11							136.0	121.0	126.0					14																	92471718		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471718C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2602G>C	14.37:g.92471718C>G	ENSP00000267622:p.Glu868Gln					TRIP11_uc010auf.1_Missense_Mutation_p.E604Q	p.E868Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3390	-			868			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2602G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.04|10.04	1.240343|1.240343	0.22711|0.22711	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.13538|.	2.58|.	6.04|6.04	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73575|0.73575	0.3604|0.3604	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.99999|0.99999	P;P|.	0.45715|.	0.865;0.783|.	B;B|.	0.39771|.	0.309;0.291|.	T|T	0.73122|0.73122	-0.4082|-0.4082	10|5	0.26408|.	T|.	0.33|.	.|.	17.5459|17.5459	0.87861|0.87861	0.0:0.8765:0.1235:0.0|0.0:0.8765:0.1235:0.0	.|.	604;868|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	868;604|583	ENSP00000267622:E868Q|.	ENSP00000267622:E868Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91541471|91541471	1.000000|1.000000	0.71417|0.71417	0.759000|0.759000	0.31340|0.31340	0.044000|0.044000	0.14063|0.14063	5.837000|5.837000	0.69381|0.69381	1.538000|1.538000	0.49270|0.49270	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.418	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1				24	68	0	0	0	0.004656	0	24	68		
HSP90AA1	3320	broad.mit.edu	37	14	102551299	102551299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:102551299C>A	ENST00000216281.8	-	5	905	c.700G>T	c.(700-702)Gag>Tag	p.E234*	HSP90AA1_ENST00000334701.7_Nonsense_Mutation_p.E356*|HSP90AA1_ENST00000441629.2_Nonsense_Mutation_p.E55*	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	234					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	tcttcAGCCTCATCATCGCTT	0.418																																						uc001yku.3		NaN																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(700-702)GAG>TAG		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						52.0	52.0	52.0					14																	102551299		2203	4300	6503	SO:0001587	stop_gained	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551299C>A	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.700G>T	14.37:g.102551299C>A	ENSP00000216281:p.Glu234*					HSP90AA1_uc001ykv.3_Nonsense_Mutation_p.E356*|HSP90AA1_uc001ykw.1_Nonsense_Mutation_p.E55*|HSP90AA1_uc001ykx.1_Nonsense_Mutation_p.E223*	p.E234*	NM_005348	NP_005339	P07900	HS90A_HUMAN			5	890	-			234					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Nonsense_Mutation	SNP	ENST00000216281.8	37	c.700G>T	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	34	5.334617	0.95758	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	.	.	.	4.37	4.37	0.52481	.	0.162972	0.38058	U	0.001837	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-26.9684	16.9065	0.86130	0.0:1.0:0.0:0.0	.	.	.	.	X	234;356;55;165	.	ENSP00000216281:E234X	E	-	1	0	HSP90AA1	101621052	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.920000	0.70017	2.152000	0.67230	0.591000	0.81541	GAG		0.418	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2		NM_005348		11	26	1	0	2.80697e-09	0.010729	2.99719e-09	11	26		
HSP90AA1	3320	broad.mit.edu	37	14	102552620	102552620	+	Missense_Mutation	SNP	C	C	G	rs373810935		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:102552620C>G	ENST00000216281.8	-	2	301	c.96G>C	c.(94-96)ttG>ttC	p.L32F	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.L154F|HSP90AA1_ENST00000441629.2_5'UTR	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	32					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TATTGATGATCAATGACATCA	0.443																																						uc001yku.3		NaN																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(94-96)TTG>TTC		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						76.0	76.0	76.0					14																	102552620		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552620C>G	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.96G>C	14.37:g.102552620C>G	ENSP00000216281:p.Leu32Phe					HSP90AA1_uc001ykv.3_Missense_Mutation_p.L154F|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Missense_Mutation_p.L21F	p.L32F	NM_005348	NP_005339	P07900	HS90A_HUMAN			2	286	-			32					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.96G>C	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	C	4.513	0.095125	0.08681	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000553585	T;T;T	0.79749	-1.3;-1.3;-1.3	3.79	1.81	0.25067	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.64402	U	0.000015	D	0.89605	0.6763	M	0.91249	3.19	0.80722	D	1	D;D	0.71674	0.998;0.992	D;D	0.74674	0.984;0.946	D	0.89193	0.3552	10	0.87932	D	0	.	9.0907	0.36610	0.0:0.7623:0.1495:0.0882	.	154;32	P07900-2;P07900	.;HS90A_HUMAN	F	32;154;32	ENSP00000216281:L32F;ENSP00000335153:L154F;ENSP00000450712:L32F	ENSP00000216281:L32F	L	-	3	2	HSP90AA1	101622373	1.000000	0.71417	0.882000	0.34594	0.057000	0.15508	1.466000	0.35310	0.677000	0.31305	0.573000	0.79308	TTG		0.443	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2		NM_005348		27	71	0	0	0	0.005443	0	27	71		
INF2	64423	broad.mit.edu	37	14	105172458	105172458	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:105172458C>G	ENST00000392634.4	+	6	900	c.788C>G	c.(787-789)tCt>tGt	p.S263C	INF2_ENST00000330634.7_Missense_Mutation_p.S263C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	263	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTGCGAGTCTCTGGCGGGGTC	0.672																																						uc001ypb.2		NaN																	0					0						c.(787-789)TCT>TGT		inverted formin 2 isoform 1							23.0	28.0	26.0					14																	105172458		2048	4202	6250	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105172458C>G	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.788C>G	14.37:g.105172458C>G	ENSP00000376410:p.Ser263Cys					INF2_uc010tyi.1_Missense_Mutation_p.S263C|INF2_uc001ypc.2_Missense_Mutation_p.S263C|INF2_uc010awz.1_5'Flank	p.S263C	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	6	931	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	263			GBD/FH3.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.788C>G	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	3.556	-0.090753	0.07053	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.84070	-1.8;-1.8	4.37	1.17	0.20885	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	1.717000	0.03209	N	0.175979	T	0.64427	0.2597	N	0.03281	-0.365	0.19300	N	0.999977	B;B	0.20164	0.034;0.042	B;B	0.22601	0.024;0.04	T	0.55386	-0.8149	10	0.29301	T	0.29	.	4.0002	0.09576	0.0807:0.1407:0.4904:0.2882	.	263;263	Q27J81-2;Q27J81	.;INF2_HUMAN	C	263	ENSP00000376406:S263C;ENSP00000376410:S263C	ENSP00000376406:S263C	S	+	2	0	INF2	104243503	0.940000	0.31905	0.000000	0.03702	0.050000	0.14768	2.764000	0.47613	0.377000	0.24735	-0.502000	0.04539	TCT		0.672	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4		NM_022489		8	14	0	0	0	0.006214	0	8	14		
INF2	64423	broad.mit.edu	37	14	105173276	105173276	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:105173276C>G	ENST00000392634.4	+	7	985	c.873C>G	c.(871-873)ctC>ctG	p.L291L	INF2_ENST00000330634.7_Silent_p.L291L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	291	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTGCCCAGCTCCTGTCGGTGC	0.706																																						uc001ypb.2		NaN																	0					0						c.(871-873)CTC>CTG		inverted formin 2 isoform 1							16.0	22.0	20.0					14																	105173276		2052	4166	6218	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105173276C>G	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.873C>G	14.37:g.105173276C>G						INF2_uc010tyi.1_Silent_p.L291L|INF2_uc001ypc.2_Silent_p.L291L|INF2_uc010awz.1_5'Flank	p.L291L	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	7	1016	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	291			GBD/FH3.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.873C>G	CCDS9989.2																																																																																				0.706	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4		NM_022489		15	22	0	0	0	0.007413	0	15	22		
INF2	64423	broad.mit.edu	37	14	105174062	105174062	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:105174062C>G	ENST00000392634.4	+	8	1570	c.1458C>G	c.(1456-1458)ttC>ttG	p.F486L	INF2_ENST00000330634.7_Missense_Mutation_p.F486L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	486	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		cctgtgagttcctgcccccac	0.741																																						uc001ypb.2		NaN																	0					0						c.(1456-1458)TTC>TTG		inverted formin 2 isoform 1							3.0	2.0	3.0					14																	105174062		1073	2595	3668	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174062C>G	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1458C>G	14.37:g.105174062C>G	ENSP00000376410:p.Phe486Leu					INF2_uc010tyi.1_Missense_Mutation_p.F486L|INF2_uc001ypc.2_Missense_Mutation_p.F486L|INF2_uc010awz.1_RNA	p.F486L	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1601	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	486			Pro-rich.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.1458C>G	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046023	0.36085	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.79141	-1.24;-1.23	3.68	-5.53	0.02552	.	.	.	.	.	T	0.47507	0.1449	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43015	-0.9417	9	0.11485	T	0.65	.	8.7377	0.34539	0.2967:0.2281:0.4751:0.0	.	486;486	Q27J81-2;Q27J81	.;INF2_HUMAN	L	486	ENSP00000376406:F486L;ENSP00000376410:F486L	ENSP00000376406:F486L	F	+	3	2	INF2	104245107	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.165000	0.09968	-0.999000	0.03442	0.478000	0.44815	TTC		0.741	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4		NM_022489		2	0	0	0	0	0.004672	0	2	0		
INF2	64423	broad.mit.edu	37	14	105174218	105174218	+	Silent	SNP	C	C	A	rs201561899		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:105174218C>A	ENST00000392634.4	+	8	1726	c.1614C>A	c.(1612-1614)atC>atA	p.I538I	INF2_ENST00000330634.7_Silent_p.I538I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	538					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGGAGGTCATCGTGGCCCAGG	0.677																																						uc001ypb.2		NaN																	0					0						c.(1612-1614)ATC>ATA		inverted formin 2 isoform 1							25.0	28.0	27.0					14																	105174218		2072	4189	6261	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174218C>A	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1614C>A	14.37:g.105174218C>A						INF2_uc010tyi.1_Silent_p.I538I|INF2_uc001ypc.2_Silent_p.I538I|INF2_uc010awz.1_RNA	p.I538I	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1757	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	538					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.1614C>A	CCDS9989.2																																																																																				0.677	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4		NM_022489		5	23	1	0	3.59834e-05	0.001168	3.73279e-05	5	23		
FAN1	22909	broad.mit.edu	37	15	31197525	31197525	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:31197525C>G	ENST00000362065.4	+	2	950	c.659C>G	c.(658-660)tCt>tGt	p.S220C	FAN1_ENST00000561594.1_Missense_Mutation_p.S220C|FAN1_ENST00000561607.1_Missense_Mutation_p.S220C|FAN1_ENST00000565466.1_Missense_Mutation_p.S220C	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	220					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AAATGTGATTCTCTAAAGGAA	0.393								Direct reversal of damage																														uc001zff.2		NaN																	0					0						c.(658-660)TCT>TGT	Direct_reversal_of_damage|Editing_and_processing_nucleases	myotubularin related protein 15 isoform a							48.0	49.0	49.0					15																	31197525		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197525C>G		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.659C>G	15.37:g.31197525C>G	ENSP00000354497:p.Ser220Cys					MTMR15_uc001zfc.3_Missense_Mutation_p.S220C|MTMR15_uc010azw.2_Missense_Mutation_p.S220C|MTMR15_uc001zfd.3_Missense_Mutation_p.S220C|MTMR15_uc001zfe.2_5'UTR	p.S220C	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	2	950	+		all_lung(180;2.23e-09)	220					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.659C>G	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.803070	0.50315	.	.	ENSG00000198690	ENST00000362065	T	0.81247	-1.47	5.59	2.62	0.31277	.	0.614925	0.16319	N	0.219680	D	0.83450	0.5257	M	0.65975	2.015	0.09310	N	1	B;D	0.76494	0.013;0.999	B;D	0.63192	0.007;0.912	T	0.71941	-0.4440	10	0.56958	D	0.05	-9.8306	2.739	0.05248	0.1377:0.5255:0.1338:0.2031	.	220;220	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	C	220	ENSP00000354497:S220C	ENSP00000354497:S220C	S	+	2	0	FAN1	28984817	0.000000	0.05858	0.013000	0.15412	0.187000	0.23431	0.499000	0.22546	0.804000	0.34136	0.655000	0.94253	TCT		0.393	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1		NM_014967		20	38	0	0	0	0.010504	0	20	38		
NUTM1	256646	broad.mit.edu	37	15	34645971	34645971	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:34645971C>A	ENST00000333756.4	+	4	1044	c.889C>A	c.(889-891)Cag>Aag	p.Q297K	NUTM1_ENST00000537011.1_Missense_Mutation_p.Q325K|NUTM1_ENST00000438749.3_Missense_Mutation_p.Q315K	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	297						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GATGCAGATTCAGAACACACA	0.542																																						uc001zif.2		NaN								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(889-891)CAG>AAG		nuclear protein in testis							143.0	127.0	133.0					15																	34645971		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34645971C>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.889C>A	15.37:g.34645971C>A	ENSP00000329448:p.Gln297Lys					C15orf55_uc010ucc.1_Missense_Mutation_p.Q325K|C15orf55_uc010ucd.1_Missense_Mutation_p.Q315K	p.Q297K	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	4	1044	+		all_lung(180;2.78e-08)	297					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.889C>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154695	0.57259	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.25085	1.82;1.82;1.82	5.07	5.07	0.68467	Nuclear Testis  protein, N-terminal (1);	0.276731	0.25994	N	0.026992	T	0.41050	0.1142	M	0.77103	2.36	0.34764	D	0.733054	P;P;P	0.47253	0.811;0.775;0.892	B;B;P	0.49421	0.386;0.266;0.61	T	0.58493	-0.7627	10	0.56958	D	0.05	.	13.8195	0.63311	0.0:1.0:0.0:0.0	.	315;325;297	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	K	325;315;297	ENSP00000444896:Q325K;ENSP00000407031:Q315K;ENSP00000329448:Q297K	ENSP00000329448:Q297K	Q	+	1	0	C15orf55	32433263	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	2.276000	0.43408	2.629000	0.89072	0.557000	0.71058	CAG		0.542	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741		41	59	1	0	6.14515e-18	0.01441	6.90293e-18	41	59		
LRRC57	255252	broad.mit.edu	37	15	42839461	42839461	+	Missense_Mutation	SNP	G	G	C	rs186716946		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:42839461G>C	ENST00000323443.2	-	3	857	c.490C>G	c.(490-492)Cag>Gag	p.Q164E	HAUS2_ENST00000568846.2_5'Flank|HAUS2_ENST00000568876.1_5'Flank|LRRC57_ENST00000563454.1_Missense_Mutation_p.Q164E|LRRC57_ENST00000397130.3_Missense_Mutation_p.Q164E|HAUS2_ENST00000260372.3_5'Flank			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	164						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		CTCTAGACCTGATTCTGGTTG	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		21052	0.001		0.0	False		,,,				2504	0.0					uc001zqd.1		NaN																	0					0						c.(490-492)CAG>GAG		leucine rich repeat containing 57							84.0	75.0	78.0					15																	42839461		2203	4299	6502	SO:0001583	missense	255252							g.chr15:42839461G>C	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.490C>G	15.37:g.42839461G>C	ENSP00000326817:p.Gln164Glu					HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Missense_Mutation_p.Q164E	p.Q164E	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	3	858	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	164			LRR 6.		Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	c.490C>G	CCDS10089.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.9	4.065365	0.76187	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.53206	0.63;0.63	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.81942	2.565	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.72364	-0.4316	10	0.48119	T	0.1	.	19.571	0.95419	0.0:0.0:1.0:0.0	.	164	Q8N9N7	LRC57_HUMAN	E	164	ENSP00000326817:Q164E;ENSP00000380319:Q164E	ENSP00000326817:Q164E	Q	-	1	0	LRRC57	40626753	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	9.301000	0.96167	2.709000	0.92574	0.655000	0.94253	CAG		0.443	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1		NM_153260		9	59	0	0	0	0.010729	0	9	59		
DMXL2	23312	broad.mit.edu	37	15	51758463	51758463	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:51758463C>T	ENST00000251076.5	-	30	7722	c.7435G>A	c.(7435-7437)Gaa>Aaa	p.E2479K	DMXL2_ENST00000449909.3_Missense_Mutation_p.E1843K|DMXL2_ENST00000543779.2_Missense_Mutation_p.E2480K|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2479						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGAATGCTTTCATCAGAATCA	0.284																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(7435-7437)GAA>AAA		Dmx-like 2							88.0	89.0	89.0					15																	51758463		2195	4284	6479	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51758463C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7435G>A	15.37:g.51758463C>T	ENSP00000251076:p.Glu2479Lys					DMXL2_uc002abd.2_Missense_Mutation_p.E550K|DMXL2_uc010ufy.1_Missense_Mutation_p.E2480K|DMXL2_uc010bfa.2_Missense_Mutation_p.E1843K	p.E2479K	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	30	7660	-			2479					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7435G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308637	0.95629	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.30714	1.64;1.64;1.52	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	M	0.73962	2.25	0.80722	D	1	D;D;D;P	0.71674	0.998;0.982;0.997;0.726	D;D;D;B	0.80764	0.994;0.952;0.98;0.236	T	0.59621	-0.7420	10	0.62326	D	0.03	.	19.1686	0.93567	0.0:1.0:0.0:0.0	.	2480;1843;2479;2480	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	K	2479;2480;1843;24	ENSP00000251076:E2479K;ENSP00000441858:E2480K;ENSP00000400855:E1843K	ENSP00000251076:E2479K	E	-	1	0	DMXL2	49545755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.101000	0.76997	2.770000	0.95276	0.655000	0.94253	GAA		0.284	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		37	68	0	0	0	0.01441	0	37	68		
SLTM	79811	broad.mit.edu	37	15	59191829	59191829	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:59191829C>A	ENST00000380516.2	-	7	984	c.897G>T	c.(895-897)atG>atT	p.M299I	SLTM_ENST00000557950.1_5'Flank|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	299					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M299I(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTTCGCATTCATCTCATAAT	0.448																																						uc002afp.2		NaN																	2	Substitution - Missense(2)		large_intestine(1)|skin(1)	ovary(1)	1						c.(895-897)ATG>ATT		modulator of estrogen induced transcription							157.0	150.0	153.0					15																	59191829		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59191829C>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.897G>T	15.37:g.59191829C>A	ENSP00000369887:p.Met299Ile					SLTM_uc002afo.2_Missense_Mutation_p.M281I|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.M198I	p.M299I	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			7	985	-			299					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.897G>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	9.700	1.154151	0.21371	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	D;D	0.88741	-2.42;-2.42	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);	0.080592	0.52532	D	0.000063	D	0.87509	0.6195	L	0.50333	1.59	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.14023	0.01;0.003	T	0.81961	-0.0693	10	0.42905	T	0.14	.	20.0114	0.97452	0.0:1.0:0.0:0.0	.	281;299	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	I	299;281	ENSP00000369887:M299I;ENSP00000249736:M281I	ENSP00000249736:M281I	M	-	3	0	SLTM	56979121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.851000	0.48302	2.732000	0.93576	0.591000	0.81541	ATG		0.448	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1		NM_024755		37	118	1	0	1.48734e-19	0.013114	1.70692e-19	37	118		
RBPMS2	348093	broad.mit.edu	37	15	65040670	65040670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:65040670G>A	ENST00000300069.4	-	6	782	c.515C>T	c.(514-516)gCt>gTt	p.A172V	RBPMS2_ENST00000560606.1_Missense_Mutation_p.A61V	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	172							nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GGTGAACGCAGCATGGGAGAT	0.622																																						uc002anq.2		NaN																	0					0						c.(514-516)GCT>GTT		RNA binding protein with multiple splicing 2							79.0	67.0	71.0					15																	65040670		2202	4299	6501	SO:0001583	missense	348093						nucleic acid binding|nucleotide binding	g.chr15:65040670G>A	AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"""RNA binding motif (RRM) containing"""	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.515C>T	15.37:g.65040670G>A	ENSP00000300069:p.Ala172Val						p.A172V	NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN			6	767	-			172					A2RRG0	Missense_Mutation	SNP	ENST00000300069.4	37	c.515C>T	CCDS32271.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213578	0.39102	.	.	ENSG00000166831	ENST00000300069	T	0.33865	1.39	4.53	4.53	0.55603	.	0.174540	0.50627	D	0.000103	T	0.26011	0.0634	L	0.29908	0.895	0.50313	D	0.99986	P	0.35077	0.483	B	0.24974	0.057	T	0.10177	-1.0641	10	0.45353	T	0.12	0.5463	16.3791	0.83439	0.0:0.0:1.0:0.0	.	172	Q6ZRY4	RBPS2_HUMAN	V	172	ENSP00000300069:A172V	ENSP00000300069:A172V	A	-	2	0	RBPMS2	62827723	0.993000	0.37304	0.023000	0.16930	0.162000	0.22319	5.189000	0.65098	2.508000	0.84585	0.563000	0.77884	GCT		0.622	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1				24	51	0	0	0	0.007291	0	24	51		
IGDCC4	57722	broad.mit.edu	37	15	65680830	65680830	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:65680830G>C	ENST00000352385.2	-	16	3011	c.2802C>G	c.(2800-2802)ttC>ttG	p.F934L	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	934	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCAGGCGGGAGAAAGGCCCAG	0.602																																						uc002aou.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2800-2802)TTC>TTG		immunoglobulin superfamily, DCC subclass, member							128.0	127.0	127.0					15																	65680830		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65680830G>C		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2802C>G	15.37:g.65680830G>C	ENSP00000319623:p.Phe934Leu					IGDCC4_uc002aot.1_Missense_Mutation_p.F522L	p.F934L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			16	3012	-			934			Extracellular (Potential).|Fibronectin type-III 5.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2802C>G	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937455	0.73557	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.53206	0.63	4.95	3.49	0.39957	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.141330	0.48767	D	0.000173	T	0.40222	0.1108	L	0.31664	0.95	0.33288	D	0.563124	D	0.54964	0.969	P	0.48270	0.572	T	0.53180	-0.8475	10	0.46703	T	0.11	-18.7581	9.5776	0.39468	0.2215:0.0:0.7785:0.0	.	934	Q8TDY8	IGDC4_HUMAN	L	934;663	ENSP00000319623:F934L	ENSP00000319623:F934L	F	-	3	2	IGDCC4	63467883	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	1.315000	0.33608	0.620000	0.30215	0.561000	0.74099	TTC		0.602	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2		NM_020962		59	169	0	0	0	0.01441	0	59	169		
IGDCC4	57722	broad.mit.edu	37	15	65693281	65693281	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:65693281G>A	ENST00000352385.2	-	5	913	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGACGCCAGGGACCCTGGCGA	0.592											OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002aou.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(703-705)TCC>TTC		immunoglobulin superfamily, DCC subclass, member							91.0	81.0	84.0					15																	65693281		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65693281G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.704C>T	15.37:g.65693281G>A	ENSP00000319623:p.Ser235Phe		OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.S235F	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			5	914	-			235			Extracellular (Potential).		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.704C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919954	0.73098	.	.	ENSG00000103742	ENST00000352385	T	0.61392	0.11	5.15	5.15	0.70609	.	0.750986	0.12048	N	0.504402	T	0.69287	0.3094	L	0.60455	1.87	0.47374	D	0.999409	D	0.54397	0.966	P	0.53593	0.73	T	0.69837	-0.5037	10	0.56958	D	0.05	-24.9329	18.6484	0.91419	0.0:0.0:1.0:0.0	.	235	Q8TDY8	IGDC4_HUMAN	F	235	ENSP00000319623:S235F	ENSP00000319623:S235F	S	-	2	0	IGDCC4	63480334	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	4.742000	0.62103	2.409000	0.81822	0.561000	0.74099	TCC		0.592	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2		NM_020962		29	62	0	0	0	0.012213	0	29	62		
LCTL	197021	broad.mit.edu	37	15	66845384	66845384	+	Missense_Mutation	SNP	G	G	T	rs375531381		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:66845384G>T	ENST00000341509.5	-	9	1266	c.1135C>A	c.(1135-1137)Ctg>Atg	p.L379M	LCTL_ENST00000537670.1_Missense_Mutation_p.L206M	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	379					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTAGACCCCAGATCTGGCCAG	0.493																																						uc002aqc.2		NaN																	0				ovary(2)	2						c.(1135-1137)CTG>ATG		lactase-like precursor							98.0	97.0	97.0					15																	66845384		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66845384G>T	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1135C>A	15.37:g.66845384G>T	ENSP00000343490:p.Leu379Met					LCTL_uc002aqd.3_Missense_Mutation_p.L206M|LCTL_uc010bhw.2_Missense_Mutation_p.L77M	p.L379M	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN			9	1267	-			379			Extracellular (Potential).		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.1135C>A	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	G	9.691	1.151874	0.21371	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.51071	0.72;1.47	4.99	3.04	0.35103	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.186156	0.46442	N	0.000291	T	0.26521	0.0648	N	0.08118	0	0.25008	N	0.991428	B;B	0.22003	0.037;0.063	B;B	0.21917	0.024;0.037	T	0.25012	-1.0144	10	0.62326	D	0.03	-3.9179	9.3726	0.38264	0.08:0.0:0.7685:0.1515	.	206;379	B3KQY0;Q6UWM7	.;LCTL_HUMAN	M	206;379	ENSP00000445419:L206M;ENSP00000343490:L379M	ENSP00000343490:L379M	L	-	1	2	LCTL	64632438	1.000000	0.71417	0.742000	0.31022	0.122000	0.20287	2.499000	0.45372	1.390000	0.46547	0.655000	0.94253	CTG		0.493	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2		NM_207338		16	100	1	0	4.96729e-08	0.008871	5.26533e-08	16	100		
SMAD3	4088	broad.mit.edu	37	15	67457371	67457371	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:67457371G>A	ENST00000327367.4	+	2	655	c.345G>A	c.(343-345)atG>atA	p.M115I	SMAD3_ENST00000540846.2_Missense_Mutation_p.M10I|SMAD3_ENST00000559092.1_Silent_p.*97*|SMAD3_ENST00000537194.2_5'Flank|SMAD3_ENST00000439724.3_Missense_Mutation_p.M71I	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	115	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCTTCAATATGAAGAAGGACG	0.602																																						uc002aqj.2		NaN																	0				large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(343-345)ATG>ATA		mothers against decapentaplegic homolog 3							103.0	101.0	102.0					15																	67457371		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67457371G>A	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.345G>A	15.37:g.67457371G>A	ENSP00000332973:p.Met115Ile					SMAD3_uc010ujr.1_Missense_Mutation_p.M10I|SMAD3_uc010ujs.1_Missense_Mutation_p.M71I|SMAD3_uc010ujt.1_5'Flank	p.M115I	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	2	643	+			115			MH1.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.345G>A	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565839	0.27915	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724	T;T;T	0.75050	-0.9;-0.9;-0.9	4.39	4.39	0.52855	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.042731	0.85682	D	0.000000	T	0.61438	0.2347	N	0.17082	0.46	0.58432	D	0.999997	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.58758	-0.7580	10	0.44086	T	0.13	.	17.1514	0.86779	0.0:0.0:1.0:0.0	.	71;115	B7Z4Z5;P84022	.;SMAD3_HUMAN	I	115;115;10;71	ENSP00000332973:M115I;ENSP00000437757:M10I;ENSP00000401133:M71I	ENSP00000332973:M115I	M	+	3	0	SMAD3	65244425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.260000	0.51523	2.270000	0.75569	0.561000	0.74099	ATG		0.602	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2		NM_005902		15	99	0	0	0	0.007413	0	15	99		
HMG20A	10363	broad.mit.edu	37	15	77770687	77770687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:77770687G>T	ENST00000381714.3	+	9	1170	c.742G>T	c.(742-744)Gag>Tag	p.E248*	HMG20A_ENST00000336216.4_Nonsense_Mutation_p.E248*	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	248					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGAGTTTGAGGAGAGGAATGC	0.557																																						uc002bcr.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(742-744)GAG>TAG		high-mobility group 20A							76.0	69.0	71.0					15																	77770687		2196	4294	6490	SO:0001587	stop_gained	10363				chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:77770687G>T	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.742G>T	15.37:g.77770687G>T	ENSP00000371133:p.Glu248*					HMG20A_uc002bcs.2_Nonsense_Mutation_p.E248*	p.E248*	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN			9	943	+			248			Potential.		A6NHY3|D3DW78|Q53G31|Q9NSF6	Nonsense_Mutation	SNP	ENST00000381714.3	37	c.742G>T	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	G	41	9.021673	0.99038	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-17.7482	20.1931	0.98233	0.0:0.0:1.0:0.0	.	.	.	.	X	248	.	ENSP00000336856:E248X	E	+	1	0	HMG20A	75557742	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.771000	0.95319	0.563000	0.77884	GAG		0.557	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2		NM_018200		26	64	1	0	4.87955e-14	0.005443	5.34733e-14	26	64		
AKAP13	11214	broad.mit.edu	37	15	86064775	86064775	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:86064775C>T	ENST00000394518.2	+	3	245	c.150C>T	c.(148-150)gtC>gtT	p.V50V	AKAP13_ENST00000361243.2_Silent_p.V50V|AKAP13_ENST00000560302.1_Silent_p.V50V	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	50					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTCGGAAGGTCAGTTCTGATA	0.418																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NaN																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(148-150)GTC>GTT		A-kinase anchor protein 13 isoform 2							240.0	215.0	223.0					15																	86064775		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86064775C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.150C>T	15.37:g.86064775C>T						AKAP13_uc002bls.2_Silent_p.V50V|AKAP13_uc002blt.1_Silent_p.V50V|AKAP13_uc002blu.1_Silent_p.V50V	p.V50V	NM_007200	NP_009131	Q12802	AKP13_HUMAN			3	320	+			50					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.150C>T	CCDS32319.1																																																																																				0.418	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1		NM_007200		17	103	0	0	0	0.008871	0	17	103		
NTRK3	4916	broad.mit.edu	37	15	88576243	88576243	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:88576243G>C	ENST00000360948.2	-	13	1591	c.1430C>G	c.(1429-1431)tCa>tGa	p.S477*	NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Nonsense_Mutation_p.S477*|NTRK3_ENST00000394480.2_Nonsense_Mutation_p.S477*|NTRK3_ENST00000542733.2_Nonsense_Mutation_p.S379*|NTRK3_ENST00000558676.1_Nonsense_Mutation_p.S469*|NTRK3_ENST00000317501.3_Nonsense_Mutation_p.S477*|NTRK3_ENST00000557856.1_Nonsense_Mutation_p.S469*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.S469*|NTRK3_ENST00000355254.2_Nonsense_Mutation_p.S477*	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	477					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGGCTGGCTGAGTCCTCCTC	0.622			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NaN		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1429-1431)TCA>TGA		neurotrophic tyrosine kinase, receptor, type 3							84.0	52.0	63.0					15																	88576243		2201	4298	6499	SO:0001587	stop_gained	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88576243G>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1430C>G	15.37:g.88576243G>C	ENSP00000354207:p.Ser477*	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Nonsense_Mutation_p.S469*|NTRK3_uc002bmf.1_Nonsense_Mutation_p.S477*|NTRK3_uc010upl.1_Nonsense_Mutation_p.S379*|NTRK3_uc010bnh.1_Nonsense_Mutation_p.S469*|NTRK3_uc002bmg.2_Nonsense_Mutation_p.S477*|NTRK3_uc010bni.2_RNA	p.S477*	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		13	1592	-			477			Cytoplasmic (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Nonsense_Mutation	SNP	ENST00000360948.2	37	c.1430C>G	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	42	9.317494	0.99135	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	.	.	.	4.5	4.5	0.54988	.	0.177729	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3962	0.83605	0.0:0.0:1.0:0.0	.	.	.	.	X	477;477;469;477;379;477;477	.	ENSP00000318328:S477X	S	-	2	0	NTRK3	86377247	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	9.009000	0.93606	2.329000	0.79093	0.650000	0.86243	TCA		0.622	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding					5	12	0	0	0	0.000602	0	5	12		
ANPEP	290	broad.mit.edu	37	15	90348336	90348336	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:90348336C>T	ENST00000300060.6	-	4	1183	c.870G>A	c.(868-870)gtG>gtA	p.V290V	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	290	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CCTGCTTCTCCACGTAGTCGA	0.562																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3		NaN																	0				ovary(3)|skin(1)	4						c.(868-870)GTG>GTA		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						246.0	205.0	219.0					15																	90348336		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90348336C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.870G>A	15.37:g.90348336C>T							p.V290V	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		4	1162	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		290	DYVEKQAS->QSVEETAQ: No change in receptor activity and HCoV-229E infection.|DYVEKQAS->QSVNETAQ: Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity.|DYVEKQAS->QSVNEQAQ: No change in receptor activity and HCoV-229E infection.		Extracellular.|Interaction with HCoV-229E.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.870G>A	CCDS10356.1																																																																																				0.562	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1				45	105	0	0	0	0.01441	0	45	105		
ANPEP	290	broad.mit.edu	37	15	90348636	90348636	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:90348636C>G	ENST00000300060.6	-	3	986	c.673G>C	c.(673-675)Gat>Cat	p.D225H	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	225	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCCGGCTCATCGAAGCATGGG	0.607																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3		NaN																	0				ovary(3)|skin(1)	4						c.(673-675)GAT>CAT		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						122.0	112.0	116.0					15																	90348636		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90348636C>G	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.673G>C	15.37:g.90348636C>G	ENSP00000300060:p.Asp225His						p.D225H	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		3	965	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		225			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.673G>C	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096940	0.56075	.	.	ENSG00000166825	ENST00000300060	T	0.29655	1.56	4.62	4.62	0.57501	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74959	0.3785	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87203	0.2242	10	0.87932	D	0	.	14.9455	0.71026	0.0:1.0:0.0:0.0	.	225	P15144	AMPN_HUMAN	H	225	ENSP00000300060:D225H	ENSP00000300060:D225H	D	-	1	0	ANPEP	88149640	1.000000	0.71417	0.998000	0.56505	0.033000	0.12548	7.675000	0.84002	2.121000	0.65114	0.462000	0.41574	GAT		0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1				24	34	0	0	0	0.00632	0	24	34		
IQGAP1	8826	broad.mit.edu	37	15	91020904	91020904	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:91020904G>A	ENST00000268182.5	+	26	3236	c.3112G>A	c.(3112-3114)Gta>Ata	p.V1038I	IQGAP1_ENST00000560738.1_Missense_Mutation_p.V466I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1038	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAGGTCGAAGGTAGATCAGAT	0.393																																						uc002bpl.1		NaN																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(3112-3114)GTA>ATA		IQ motif containing GTPase activating protein 1							70.0	74.0	72.0					15																	91020904		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91020904G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3112G>A	15.37:g.91020904G>A	ENSP00000268182:p.Val1038Ile						p.V1038I	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		26	3213	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1038			Ras-GAP.|C1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3112G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268242	0.95429	.	.	ENSG00000140575	ENST00000268182	T	0.79454	-1.27	5.86	5.86	0.93980	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.86744	0.6006	L	0.59967	1.855	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.85709	0.1318	10	0.49607	T	0.09	-18.5891	19.1654	0.93555	0.0:0.0:1.0:0.0	.	1038	P46940	IQGA1_HUMAN	I	1038	ENSP00000268182:V1038I	ENSP00000268182:V1038I	V	+	1	0	IQGAP1	88821908	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.787000	0.99055	2.778000	0.95560	0.655000	0.94253	GTA		0.393	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1		NM_003870		15	68	0	0	0	0.003163	0	15	68		
IQGAP1	8826	broad.mit.edu	37	15	91020921	91020921	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:91020921G>C	ENST00000268182.5	+	26	3253	c.3129G>C	c.(3127-3129)gaG>gaC	p.E1043D	IQGAP1_ENST00000560738.1_Missense_Mutation_p.E471D	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1043	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGATTCAAGAGATTGTGACAG	0.413																																						uc002bpl.1		NaN																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(3127-3129)GAG>GAC		IQ motif containing GTPase activating protein 1							83.0	86.0	85.0					15																	91020921		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91020921G>C	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3129G>C	15.37:g.91020921G>C	ENSP00000268182:p.Glu1043Asp						p.E1043D	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		26	3230	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1043			Ras-GAP.|C1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3129G>C	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	5.352	0.250190	0.10130	.	.	ENSG00000140575	ENST00000268182	T	0.79033	-1.23	5.86	2.85	0.33270	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	N	0.02685	-0.53	0.58432	D	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.42865	-0.9426	10	0.02654	T	1	-32.1175	8.2355	0.31622	0.379:0.0:0.621:0.0	.	1043	P46940	IQGA1_HUMAN	D	1043	ENSP00000268182:E1043D	ENSP00000268182:E1043D	E	+	3	2	IQGAP1	88821925	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.305000	0.51873	0.317000	0.23160	0.655000	0.94253	GAG		0.413	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1		NM_003870		20	72	0	0	0	0.010504	0	20	72		
SV2B	9899	broad.mit.edu	37	15	91835762	91835762	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:91835762C>G	ENST00000394232.1	+	13	2502	c.2032C>G	c.(2032-2034)Cga>Gga	p.R678G	SV2B_ENST00000330276.4_Missense_Mutation_p.R678G|SV2B_ENST00000545111.2_Missense_Mutation_p.R527G	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	678					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCCAGAGACTCGAGAACAGGT	0.512																																						uc002bqv.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(2032-2034)CGA>GGA		synaptic vesicle protein 2B homolog							110.0	103.0	106.0					15																	91835762		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91835762C>G	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.2032C>G	15.37:g.91835762C>G	ENSP00000377779:p.Arg678Gly					SV2B_uc010uqv.1_Missense_Mutation_p.R527G|SV2B_uc002bqu.3_RNA	p.R678G	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		12	2423	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		678			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.2032C>G	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.452577	0.84209	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.61742	0.08;0.08;0.08	6.12	6.12	0.99158	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.73398	-0.3995	10	0.59425	D	0.04	-8.4902	14.265	0.66110	0.1488:0.8512:0.0:0.0	.	678	Q7L1I2	SV2B_HUMAN	G	527;678;678	ENSP00000443243:R527G;ENSP00000377779:R678G;ENSP00000332818:R678G	ENSP00000332818:R678G	R	+	1	2	SV2B	89636766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.498000	0.60373	2.932000	0.99384	0.644000	0.83932	CGA		0.512	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3		NM_014848		18	105	0	0	0	0.012319	0	18	105		
CHD2	1106	broad.mit.edu	37	15	93558002	93558002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:93558002C>G	ENST00000394196.4	+	37	5837	c.4769C>G	c.(4768-4770)tCt>tGt	p.S1590C	CHD2_ENST00000557381.1_Missense_Mutation_p.S1590C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1590					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGCCGGGACTCTCTGATATCT	0.512																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(4768-4770)TCT>TGT		chromodomain helicase DNA binding protein 2							145.0	144.0	144.0					15																	93558002		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93558002C>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4769C>G	15.37:g.93558002C>G	ENSP00000377747:p.Ser1590Cys					CHD2_uc002bso.1_Missense_Mutation_p.S1590C	p.S1590C	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		37	5344	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1590					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.4769C>G	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893312	0.91889	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000557759	D;D;T	0.90955	-2.76;-2.71;0.73	5.8	5.8	0.92144	.	0.246452	0.20818	U	0.085114	D	0.90290	0.6963	N	0.24115	0.695	0.80722	D	1	P;D	0.54964	0.947;0.969	B;P	0.53593	0.417;0.73	D	0.90838	0.4721	10	0.56958	D	0.05	-7.3582	20.0544	0.97645	0.0:1.0:0.0:0.0	.	1590;1590	O14647;O14647-2	CHD2_HUMAN;.	C	1590;1590;115	ENSP00000377747:S1590C;ENSP00000451366:S1590C;ENSP00000451539:S115C	ENSP00000377747:S1590C	S	+	2	0	CHD2	91359006	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.029000	0.76477	2.746000	0.94184	0.591000	0.81541	TCT		0.512	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		57	102	0	0	0	0.01441	0	57	102		
PIGQ	9091	broad.mit.edu	37	16	624461	624461	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:624461C>T	ENST00000026218.5	+	2	475	c.387C>T	c.(385-387)atC>atT	p.I129I	PIGQ_ENST00000470411.2_Silent_p.I129I|PIGQ_ENST00000321878.5_Silent_p.I129I|PIGQ_ENST00000409527.2_Silent_p.I129I	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	129					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TCATGCTCATCTTCTATGACC	0.692																																						uc002cho.2		NaN																	0				central_nervous_system(1)	1						c.(385-387)ATC>ATT		phosphatidylinositol glycan anchor biosynthesis,							24.0	19.0	21.0					16																	624461		2198	4295	6493	SO:0001819	synonymous_variant	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:624461C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.387C>T	16.37:g.624461C>T						PIGQ_uc010bqw.2_Silent_p.I129I|PIGQ_uc002chm.2_Silent_p.I129I|PIGQ_uc002chn.2_Silent_p.I129I|PIGQ_uc010uui.1_Silent_p.I143I	p.I129I	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN			2	489	+		Hepatocellular(780;0.00335)	129					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	ENST00000026218.5	37	c.387C>T	CCDS10411.1																																																																																				0.692	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2		NM_004204		6	12	0	0	0	0.00308	0	6	12		
FAM195A	84331	broad.mit.edu	37	16	697532	697532	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:697532T>A	ENST00000307650.4	+	3	477	c.298T>A	c.(298-300)Ttt>Att	p.F100I	WDR90_ENST00000293879.4_5'Flank|WDR90_ENST00000549091.1_5'Flank|AL022341.3_ENST00000455294.1_RNA	NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	100										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						GAATGTCCGCTTTGTGTCCGA	0.637																																						uc002cic.1		NaN																	0					0						c.(298-300)TTT>ATT		hypothetical protein LOC84331							64.0	62.0	63.0					16																	697532		2200	4300	6500	SO:0001583	missense	84331							g.chr16:697532T>A	BC001912	CCDS10415.1	16p13.3	2009-09-10	2009-09-10	2009-09-10	ENSG00000172366	ENSG00000172366			14142	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 14"""	C16orf14		12477932	Standard	NM_138418		Approved	MGC15416	uc002cic.1	Q9BUT9	OTTHUMG00000048042	ENST00000307650.4:c.298T>A	16.37:g.697532T>A	ENSP00000305138:p.Phe100Ile					FAM195A_uc002cid.1_Intron|FAM195A_uc002cie.2_Silent_p.A28A|FAM195A_uc002cif.1_RNA|WDR90_uc002cig.1_5'Flank|WDR90_uc002cih.1_5'Flank|WDR90_uc002cii.1_5'Flank|WDR90_uc002cij.1_5'Flank	p.F100I	NM_138418	NP_612427	Q9BUT9	F195A_HUMAN			3	441	+			100					Q969E9|Q96KV8	Missense_Mutation	SNP	ENST00000307650.4	37	c.298T>A	CCDS10415.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714315	0.89112	.	.	ENSG00000172366	ENST00000307650;ENST00000537787	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	M	0.80332	2.49	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.80951	-0.1153	9	0.87932	D	0	-5.0045	11.3694	0.49692	0.0:0.0:0.0:1.0	.	100	Q9BUT9	F195A_HUMAN	I	100	.	ENSP00000305138:F100I	F	+	1	0	FAM195A	637533	0.998000	0.40836	0.999000	0.59377	0.997000	0.91878	3.210000	0.51129	1.615000	0.50252	0.459000	0.35465	TTT		0.637	FAM195A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109347.2		NM_138418		7	23	0	0	0	0.006214	0	7	23		
MSLN	10232	broad.mit.edu	37	16	814666	814666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:814666G>A	ENST00000382862.3	+	6	415	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	MSLN_ENST00000566549.1_Missense_Mutation_p.R107Q|MSLN_ENST00000563941.1_Missense_Mutation_p.R107Q|MSLN_ENST00000545450.2_Missense_Mutation_p.R107Q	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	107					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTGGCTCACCGGCTCTCTGAG	0.682																																						uc002cjw.1		NaN																	0				pancreas(1)	1						c.(319-321)CGG>CAG		mesothelin isoform 2 preproprotein							80.0	92.0	88.0					16																	814666		2198	4291	6489	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814666G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.320G>A	16.37:g.814666G>A	ENSP00000372313:p.Arg107Gln					MSLN_uc002cjt.1_Missense_Mutation_p.R107Q|MSLN_uc002cju.1_Missense_Mutation_p.R107Q|MSLN_uc010brd.1_Missense_Mutation_p.R106Q|MSLN_uc002cjv.1_Missense_Mutation_p.R107Q|MSLN_uc002cjx.1_Missense_Mutation_p.R107Q|MSLN_uc002cjy.1_5'Flank	p.R107Q	NM_013404	NP_037536	Q13421	MSLN_HUMAN			6	371	+		Hepatocellular(780;0.00335)	107					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.320G>A	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	G	0.237	-1.016288	0.02078	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.18502	2.21;2.21	2.54	0.476	0.16779	.	1.817510	0.03064	N	0.156218	T	0.11965	0.0291	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.19935	0.013;0.028;0.04;0.013	B;B;B;B	0.09377	0.002;0.004;0.002;0.002	T	0.24083	-1.0170	10	0.25106	T	0.35	-0.0517	4.6807	0.12734	0.3349:0.0:0.6651:0.0	.	106;107;107;107	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	Q	107	ENSP00000442965:R107Q;ENSP00000372313:R107Q	ENSP00000372313:R107Q	R	+	2	0	MSLN	754667	0.003000	0.15002	0.001000	0.08648	0.005000	0.04900	1.314000	0.33597	-0.093000	0.12396	-0.219000	0.12488	CGG		0.682	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2				53	127	0	0	0	0.01441	0	53	127		
PAM16	51025	broad.mit.edu	37	16	4390379	4390379	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:4390379C>T	ENST00000318059.3	-	5	456	c.319G>A	c.(319-321)Gag>Aag	p.E107K	RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000571941.1_Missense_Mutation_p.E127K|PAM16_ENST00000573553.1_Missense_Mutation_p.E127K|CORO7-PAM16_ENST00000572274.1_5'Flank|PAM16_ENST00000577031.1_Intron|PAM16_ENST00000576217.1_Missense_Mutation_p.E107K|PAM16_ENST00000575848.1_Missense_Mutation_p.E119K|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.E1030K	NM_016069.9	NP_057153.8	Q9Y3D7	TIM16_HUMAN	presequence translocase-associated motor 16 homolog (S. cerevisiae)	107	J-like.				cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane presequence translocase complex (GO:0005744)				lung(3)	3						TTGAGTTCCTCATCCAGGCGC	0.622																																						uc002cwf.2		NaN																	0					0						c.(3088-3090)GAG>AAG		coronin 7							78.0	75.0	76.0					16																	4390379		2195	4299	6494	SO:0001583	missense	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4390379C>T	AK026514	CCDS10512.1	16p13.3	2010-10-12	2010-10-12		ENSG00000217930	ENSG00000217930			29679	protein-coding gene	gene with protein product	"""mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction"""	614336				10810093, 11750097	Standard	NM_016069		Approved	Magmas, Tim16, TIMM16		Q9Y3D7	OTTHUMG00000129466	ENST00000318059.3:c.319G>A	16.37:g.4390379C>T	ENSP00000315693:p.Glu107Lys					CORO7_uc002cwe.2_RNA|TIMM16_uc002cwd.2_Missense_Mutation_p.E107K	p.E1030K	NM_024535	NP_078811	P57737	CORO7_HUMAN			31	3531	-			Error:Variant_position_missing_in_P57737_after_alignment					Q6I9Z3|Q9H5X3	Missense_Mutation	SNP	ENST00000318059.3	37	c.3088G>A	CCDS10512.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878231	0.72294	.	.	ENSG00000217930	ENST00000318059	T	0.49139	0.79	6.07	4.11	0.48088	.	.	.	.	.	T	0.35828	0.0945	L	0.36672	1.1	0.29671	N	0.84244	B	0.23249	0.082	B	0.29176	0.099	T	0.31613	-0.9937	9	0.08179	T	0.78	-33.0545	10.2152	0.43164	0.0:0.7923:0.1361:0.0716	.	107	Q9Y3D7	TIM16_HUMAN	K	107	ENSP00000315693:E107K	ENSP00000315693:E107K	E	-	1	0	PAM16	4330380	1.000000	0.71417	0.762000	0.31397	0.952000	0.60782	5.377000	0.66184	0.888000	0.36160	0.655000	0.94253	GAG		0.622	PAM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251629.2		NM_016069		23	41	0	0	0	0.004656	0	23	41		
ZKSCAN2	342357	broad.mit.edu	37	16	25251339	25251339	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:25251339C>G	ENST00000328086.7	-	7	3505	c.2702G>C	c.(2701-2703)aGa>aCa	p.R901T	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	901					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCTCGAAATCTCGTACAGTT	0.458																																						uc002dod.3		NaN																	0				ovary(3)|breast(1)	4						c.(2701-2703)AGA>ACA		zinc finger with KRAB and SCAN domains 2							99.0	86.0	90.0					16																	25251339		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251339C>G	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2702G>C	16.37:g.25251339C>G	ENSP00000331626:p.Arg901Thr					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R697T	p.R901T	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3109	-			901			C2H2-type 5.		A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2702G>C	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.302571	0.01353	.	.	ENSG00000155592	ENST00000328086	T	0.60040	0.22	5.43	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.385589	0.24949	N	0.034309	T	0.29716	0.0742	N	0.04043	-0.29	0.09310	N	1	B;B	0.25272	0.122;0.122	B;B	0.27076	0.037;0.076	T	0.18366	-1.0339	10	0.18710	T	0.47	-14.6421	7.4521	0.27244	0.0:0.732:0.0:0.268	.	697;901	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	T	901	ENSP00000331626:R901T	ENSP00000331626:R901T	R	-	2	0	ZKSCAN2	25158840	0.000000	0.05858	0.023000	0.16930	0.001000	0.01503	-0.018000	0.12568	0.867000	0.35654	-0.140000	0.14226	AGA		0.458	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1		NM_001012981		13	29	0	0	0	0.003163	0	13	29		
APOBR	55911	broad.mit.edu	37	16	28508751	28508751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:28508751G>A	ENST00000431282.1	+	3	2372	c.2362G>A	c.(2362-2364)Gag>Aag	p.E788K	CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.E797K|APOBR_ENST00000328423.5_Missense_Mutation_p.E788K|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	788	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGAAAAGGAAGAGGCAGCAGC	0.572																																						uc002dqb.1		NaN																	0					0						c.(2362-2364)GAG>AAG		apolipoprotein B48 receptor							30.0	34.0	33.0					16																	28508751		2045	4197	6242	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28508751G>A	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2362G>A	16.37:g.28508751G>A	ENSP00000416094:p.Glu788Lys					uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.E326K	p.E788K	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			3	2372	+			788			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.2362G>A		.	.	.	.	.	.	.	.	.	.	G	16.90	3.250514	0.59212	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.76316	-1.01;-1.01	4.26	3.28	0.37604	.	.	.	.	.	T	0.71609	0.3360	L	0.34521	1.04	0.09310	N	1	P;P	0.50943	0.94;0.713	P;B	0.47981	0.563;0.424	T	0.63161	-0.6699	9	0.87932	D	0	-5.1698	8.5605	0.33507	0.1168:0.0:0.8832:0.0	.	788;788	Q0VD83;Q9NS13	APOBR_HUMAN;.	K	788	ENSP00000327669:E788K;ENSP00000416094:E788K	ENSP00000327669:E788K	E	+	1	0	APOBR	28416252	0.413000	0.25400	0.013000	0.15412	0.002000	0.02628	1.935000	0.40173	2.085000	0.62840	0.556000	0.70494	GAG		0.572	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_182804		6	10	0	0	0	0.001984	0	6	10		
ITGAX	3687	broad.mit.edu	37	16	31391116	31391116	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:31391116C>T	ENST00000268296.4	+	25	3028	c.2907C>T	c.(2905-2907)atC>atT	p.I969I	ITGAX_ENST00000562522.1_Silent_p.I969I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	969					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGTCAGCATCAACTTCTGGG	0.617																																						uc002ebu.1		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2905-2907)ATC>ATT		integrin alpha X precursor							51.0	43.0	46.0					16																	31391116		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31391116C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2907C>T	16.37:g.31391116C>T						ITGAX_uc002ebt.2_Silent_p.I969I	p.I969I	NM_000887	NP_000878	P20702	ITAX_HUMAN			25	2974	+			969			Extracellular (Potential).		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.2907C>T	CCDS10711.1																																																																																				0.617	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2		NM_000887		8	24	0	0	0	0.010729	0	8	24		
CMTM2	146225	broad.mit.edu	37	16	66620940	66620940	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:66620940G>A	ENST00000268595.2	+	3	636	c.485G>A	c.(484-486)gGa>gAa	p.G162E	CMTM2_ENST00000379486.2_Missense_Mutation_p.G109E	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	162	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TTCCTTGTGGGAGCCGTGGTC	0.522																																						uc002ept.2		NaN																	0				ovary(1)	1						c.(484-486)GGA>GAA		chemokine-like factor superfamily 2							246.0	186.0	206.0					16																	66620940		2201	4300	6501	SO:0001583	missense	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66620940G>A	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.485G>A	16.37:g.66620940G>A	ENSP00000268595:p.Gly162Glu					CMTM2_uc010cdu.2_Missense_Mutation_p.G109E	p.G162E	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	3	645	+		Ovarian(137;0.0563)	162			MARVEL.|Helical; (Potential).		Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	c.485G>A	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058542	0.55325	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.54479	0.57;1.31	4.05	4.05	0.47172	Marvel (1);	0.148825	0.31809	N	0.007025	T	0.65048	0.2654	L	0.54323	1.7	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.55761	-0.8090	10	0.66056	D	0.02	-0.7616	12.0257	0.53368	0.0:0.0:1.0:0.0	.	109;162	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	E	109;162	ENSP00000368800:G109E;ENSP00000268595:G162E	ENSP00000268595:G162E	G	+	2	0	CMTM2	65178441	0.424000	0.25490	0.008000	0.14137	0.029000	0.11900	3.635000	0.54309	2.561000	0.86390	0.561000	0.74099	GGA		0.522	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1				14	87	0	0	0	0.00499	0	14	87		
EXOC3L1	283849	broad.mit.edu	37	16	67218811	67218811	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:67218811G>A	ENST00000314586.6	-	12	2139	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L	KIAA0895L_ENST00000561621.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	633					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCACCAAACTGAGGAAAAGCT	0.687																																						uc002erx.1		NaN																	0					0						c.(1897-1899)CTC>CTT		exocyst complex component 3-like							18.0	21.0	20.0					16																	67218811		2191	4297	6488	SO:0001819	synonymous_variant	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67218811G>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1899C>T	16.37:g.67218811G>A						KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Silent_p.L284L|EXOC3L_uc002ery.1_Silent_p.L535L|EXOC3L_uc010vje.1_Silent_p.L530L	p.L633L	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)	12	2140	-		Ovarian(137;0.0563)	633					A8K7I9|Q8NAD2|Q8TEN2	Silent	SNP	ENST00000314586.6	37	c.1899C>T	CCDS10832.1																																																																																				0.687	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2		NM_178516		3	22	0	0	0	0.004672	0	3	22		
AGRP	181	broad.mit.edu	37	16	67517183	67517183	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:67517183G>C	ENST00000290953.2	-	2	418	c.119C>G	c.(118-120)cCa>cGa	p.P40R	ATP6V0D1_ENST00000290949.3_5'Flank|ATP6V0D1_ENST00000540149.1_5'Flank|RP11-297D21.4_ENST00000602596.1_RNA	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related neuropeptide	40					adult feeding behavior (GO:0008343)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|hormone-mediated signaling pathway (GO:0009755)|maternal process involved in female pregnancy (GO:0060135)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of feeding behavior (GO:2000253)|regulation of feeding behavior (GO:0060259)|response to insulin (GO:0032868)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		TGGGAGCTCTGGGAGCAGGGC	0.637																																						uc002etg.1		NaN																	0					0						c.(118-120)CCA>CGA		agouti related protein homolog isoform 1							15.0	16.0	16.0					16																	67517183		2196	4297	6493	SO:0001583	missense	181				hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity	g.chr16:67517183G>C	U88063	CCDS10839.1	16q22	2014-07-15	2014-07-15		ENSG00000159723	ENSG00000159723		"""Endogenous ligands"""	330	protein-coding gene	gene with protein product		602311	"""agouti (mouse) related protein"", ""agouti related protein homolog (mouse)"""			9119224, 9311920	Standard	NM_001138		Approved	Agrt, ART, ASIP2	uc002etg.1	O00253	OTTHUMG00000137509	ENST00000290953.2:c.119C>G	16.37:g.67517183G>C	ENSP00000290953:p.Pro40Arg					ATP6V0D1_uc002ete.1_5'Flank|ATP6V0D1_uc010vjo.1_5'Flank	p.P40R	NM_001138	NP_001129	O00253	AGRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)	2	419	-		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)	40					O15459|Q2TBD9	Missense_Mutation	SNP	ENST00000290953.2	37	c.119C>G	CCDS10839.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130803	0.56828	.	.	ENSG00000159723	ENST00000290953	T	0.33654	1.4	5.67	3.61	0.41365	.	0.303544	0.36338	N	0.002660	T	0.35158	0.0922	M	0.65975	2.015	0.32306	N	0.564355	B	0.24882	0.113	B	0.26416	0.069	T	0.47471	-0.9115	10	0.52906	T	0.07	.	8.486	0.33071	0.0826:0.154:0.7634:0.0	.	40	O00253	AGRP_HUMAN	R	40	ENSP00000290953:P40R	ENSP00000290953:P40R	P	-	2	0	AGRP	66074684	0.004000	0.15560	0.899000	0.35326	0.852000	0.48524	0.839000	0.27586	1.396000	0.46663	0.563000	0.77884	CCA		0.637	AGRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268828.1				3	4	0	0	0	0.004672	0	3	4		
THAP11	57215	broad.mit.edu	37	16	67876898	67876898	+	Silent	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:67876898G>T	ENST00000303596.1	+	1	686	c.441G>T	c.(439-441)ccG>ccT	p.P147P	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		AGCTGCAGCCGAACCTGGTAT	0.642																																						uc002euo.2		NaN																	0					0						c.(439-441)CCG>CCT		THAP domain containing 11							85.0	92.0	90.0					16																	67876898		2196	4297	6493	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876898G>T	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.441G>T	16.37:g.67876898G>T						CENPT_uc002eun.3_Intron	p.P147P	NM_020457	NP_065190	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	686	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	147					A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.441G>T	CCDS10847.1																																																																																				0.642	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1		NM_020457		35	182	1	0	2.56175e-15	0.01441	2.83935e-15	35	182		
EDC4	23644	broad.mit.edu	37	16	67917616	67917616	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:67917616G>C	ENST00000358933.5	+	28	4234	c.3995G>C	c.(3994-3996)cGa>cCa	p.R1332P	NRN1L_ENST00000339176.3_5'Flank|NRN1L_ENST00000576147.1_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1332					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTTGGCACTCGAACTGACCTC	0.617											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002eur.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(3994-3996)CGA>CCA		autoantigen RCD8							133.0	131.0	132.0					16																	67917616		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67917616G>C	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3995G>C	16.37:g.67917616G>C	ENSP00000351811:p.Arg1332Pro		OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1103	EDC4_uc010cer.2_Missense_Mutation_p.R951P|EDC4_uc002eus.2_Missense_Mutation_p.R1062P|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	p.R1332P	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	28	4161	+		Ovarian(137;0.0563)	1332					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.3995G>C	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208186	0.79240	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	L	0.59436	1.845	0.53688	D	0.999974	D	0.65815	0.995	D	0.69824	0.966	T	0.74515	-0.3640	9	0.40728	T	0.16	-7.6565	18.7488	0.91806	0.0:0.0:1.0:0.0	.	1332	Q6P2E9	EDC4_HUMAN	P	1332	.	ENSP00000351811:R1332P	R	+	2	0	EDC4	66475117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.404000	0.73268	2.597000	0.87782	0.655000	0.94253	CGA		0.617	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2		NM_014329		42	220	0	0	0	0.01441	0	42	220		
SLC7A6	9057	broad.mit.edu	37	16	68308901	68308901	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:68308901C>G	ENST00000566454.1	+	4	541	c.272C>G	c.(271-273)tCt>tGt	p.S91C	SLC7A6_ENST00000219343.6_Missense_Mutation_p.S91C	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GGGCTCTTCTCTGTTGTGGGT	0.547																																						uc002evt.1		NaN																	0				central_nervous_system(1)	1						c.(271-273)TCT>TGT		solute carrier family 7 (cationic amino acid							133.0	135.0	134.0					16																	68308901		2198	4300	6498	SO:0001583	missense	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68308901C>G	D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.272C>G	16.37:g.68308901C>G	ENSP00000455064:p.Ser91Cys					SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.S91C|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	p.S91C	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	4	581	+		Ovarian(137;0.0563)	91			Helical; (Potential).			Missense_Mutation	SNP	ENST00000566454.1	37	c.272C>G	CCDS32470.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861121	0.91433	.	.	ENSG00000103064	ENST00000219343;ENST00000379152	D;D	0.89681	-2.55;-2.55	5.69	5.69	0.88448	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95593	0.8656	10	0.62326	D	0.03	.	17.3763	0.87392	0.0:1.0:0.0:0.0	.	91	Q92536	YLAT2_HUMAN	C	91	ENSP00000219343:S91C;ENSP00000368448:S91C	ENSP00000219343:S91C	S	+	2	0	SLC7A6	66866402	1.000000	0.71417	0.987000	0.45799	0.999000	0.98932	7.654000	0.83653	2.683000	0.91414	0.650000	0.86243	TCT		0.547	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1		NM_003983		33	48	0	0	0	0.010771	0	33	48		
HYDIN	54768	broad.mit.edu	37	16	71008159	71008159	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:71008159C>G	ENST00000393567.2	-	33	5104	c.4954G>C	c.(4954-4956)Gaa>Caa	p.E1652Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1652					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTCCGTTTCACAATGAGGT	0.428																																						uc002ezr.2		NaN																	0				ovary(1)|skin(1)	2						c.(4951-4953)GAA>CAA		hydrocephalus inducing isoform a							30.0	28.0	29.0					16																	71008159		1832	4079	5911	SO:0001583	missense	54768							g.chr16:71008159C>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4954G>C	16.37:g.71008159C>G	ENSP00000377197:p.Glu1652Gln						p.E1651Q	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			33	5079	-		Ovarian(137;0.0654)	1652					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.4951G>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440782	0.43326	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01076	5.37	4.81	4.81	0.61882	.	0.000000	0.33040	U	0.005343	T	0.01905	0.0060	L	0.54323	1.7	0.80722	D	1	P	0.45715	0.865	B	0.42555	0.391	T	0.70085	-0.4969	10	0.27785	T	0.31	.	12.6711	0.56868	0.0:0.8335:0.1665:0.0	.	1651	F8WD23	.	Q	1652;1651	ENSP00000377197:E1652Q	ENSP00000313052:E1651Q	E	-	1	0	HYDIN	69565660	1.000000	0.71417	0.996000	0.52242	0.479000	0.33129	3.547000	0.53663	2.380000	0.81148	0.505000	0.49811	GAA		0.428	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				4	20	0	0	0	0.000602	0	4	20		
GLG1	2734	broad.mit.edu	37	16	74511362	74511362	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:74511362G>C	ENST00000422840.2	-	12	1896	c.1897C>G	c.(1897-1899)Cct>Gct	p.P633A	GLG1_ENST00000447066.2_Missense_Mutation_p.P622A|GLG1_ENST00000205061.5_Missense_Mutation_p.P633A	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	633					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TGGAGGGCAGGATCCAGCTTG	0.483																																						uc002fcy.3		NaN																	0				ovary(1)|breast(1)	2						c.(1897-1899)CCT>GCT		golgi apparatus protein 1 isoform 3							170.0	134.0	146.0					16																	74511362		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74511362G>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1897C>G	16.37:g.74511362G>C	ENSP00000405984:p.Pro633Ala					GLG1_uc002fcx.2_Missense_Mutation_p.P633A|GLG1_uc002fcw.3_Missense_Mutation_p.P622A|GLG1_uc002fcz.3_Missense_Mutation_p.P50A	p.P633A	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			12	1947	-			633			Cys-rich GLG1 9.|Extracellular (Potential).		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.1897C>G	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712130	0.89112	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.82829	0.5122	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.986;0.989	D	0.84697	0.0726	9	0.72032	D	0.01	-7.2874	19.1178	0.93348	0.0:0.0:1.0:0.0	.	633;633;622	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	A	633;622;633	.	ENSP00000205061:P633A	P	-	1	0	GLG1	73068863	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	9.859000	0.99545	2.522000	0.85027	0.643000	0.83706	CCT		0.483	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1		NM_012201		84	58	0	0	0	0.01441	0	84	58		
RFWD3	55159	broad.mit.edu	37	16	74685877	74685877	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:74685877G>A	ENST00000361070.4	-	3	759	c.662C>T	c.(661-663)tCt>tTt	p.S221F	RFWD3_ENST00000571750.1_Missense_Mutation_p.S221F	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	221				S -> P (in Ref. 1; BAF83889). {ECO:0000305}.	DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						ATACTCTGCAGAGCTGTCACT	0.468																																						uc002fda.2		NaN																	0				lung(2)|breast(1)	3						c.(661-663)TCT>TTT		ring finger and WD repeat domain 3							117.0	112.0	114.0					16																	74685877		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74685877G>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.662C>T	16.37:g.74685877G>A	ENSP00000354361:p.Ser221Phe					RFWD3_uc010cgq.2_Missense_Mutation_p.S221F	p.S221F	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			3	760	-			221	S -> P (in Ref. 1; BAF83889).				A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.662C>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270484	0.80469	.	.	ENSG00000168411	ENST00000361070	T	0.20738	2.05	5.93	5.93	0.95920	.	0.371143	0.22900	N	0.054263	T	0.39489	0.1080	M	0.66939	2.045	0.37115	D	0.900551	P	0.45396	0.857	P	0.50791	0.65	T	0.31251	-0.9950	10	0.66056	D	0.02	-12.0573	19.3766	0.94512	0.0:0.0:1.0:0.0	.	221	Q6PCD5	RFWD3_HUMAN	F	221	ENSP00000354361:S221F	ENSP00000354361:S221F	S	-	2	0	RFWD3	73243378	0.998000	0.40836	0.996000	0.52242	0.655000	0.38815	4.015000	0.57152	2.810000	0.96702	0.650000	0.86243	TCT		0.468	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2		NM_018124		82	53	0	0	0	0.01441	0	82	53		
ADAT1	23536	broad.mit.edu	37	16	75642774	75642774	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:75642774C>G	ENST00000307921.3	-	8	1301	c.1156G>C	c.(1156-1158)Gat>Cat	p.D386H	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	386	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CCTGGGCTATCAGCCCTTTTT	0.512																																						uc002feo.1		NaN																	0				ovary(1)|skin(1)	2						c.(1156-1158)GAT>CAT		adenosine deaminase, tRNA-specific 1							80.0	72.0	75.0					16																	75642774		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75642774C>G	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1156G>C	16.37:g.75642774C>G	ENSP00000310015:p.Asp386His					ADAT1_uc002fep.1_Missense_Mutation_p.D237H	p.D386H	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN			8	1258	-			386			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.1156G>C	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	C	6.540	0.467950	0.12402	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.94046	-3.34	6.04	3.77	0.43336	Adenosine deaminase/editase (3);	0.972870	0.08559	N	0.927792	D	0.91620	0.7352	L	0.61218	1.895	0.09310	N	1	B	0.24768	0.111	B	0.23275	0.045	D	0.83404	0.0024	10	0.42905	T	0.14	-0.028	10.5969	0.45343	0.0:0.7876:0.0:0.2124	.	386	Q9BUB4	ADAT1_HUMAN	H	386;357	ENSP00000310015:D386H	ENSP00000310015:D386H	D	-	1	0	ADAT1	74200275	0.213000	0.23551	0.045000	0.18777	0.282000	0.26991	1.287000	0.33284	1.557000	0.49525	0.563000	0.77884	GAT		0.512	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1		NM_012091		23	57	0	0	0	0.005443	0	23	57		
TERF2IP	54386	broad.mit.edu	37	16	75681873	75681873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:75681873C>G	ENST00000300086.4	+	1	190	c.93C>G	c.(91-93)ttC>ttG	p.F31L	KARS_ENST00000568378.1_5'Flank|KARS_ENST00000319410.5_5'Flank|KARS_ENST00000302445.3_5'Flank	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	31					negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CCATGTCCTTCTACGTGCGGC	0.682																																						uc002fet.1		NaN																	0				central_nervous_system(1)	1						c.(91-93)TTC>TTG		telomeric repeat binding factor 2, interacting							42.0	36.0	38.0					16																	75681873		2198	4300	6498	SO:0001583	missense	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75681873C>G	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.93C>G	16.37:g.75681873C>G	ENSP00000300086:p.Phe31Leu					KARS_uc002fer.2_5'Flank|KARS_uc002feq.2_5'Flank|KARS_uc002fes.2_5'Flank|KARS_uc010cha.1_Intron	p.F31L	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN			1	190	+			31					B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Missense_Mutation	SNP	ENST00000300086.4	37	c.93C>G	CCDS32491.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838024	0.91117	.	.	ENSG00000166848	ENST00000300086	T	0.74737	-0.87	5.76	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.72118	2.19	0.49051	D	0.999746	D	0.67145	0.996	P	0.61070	0.883	T	0.80696	-0.1267	10	0.87932	D	0	-17.5743	8.2152	0.31507	0.0:0.7519:0.0:0.2481	.	31	Q9NYB0	TE2IP_HUMAN	L	31	ENSP00000300086:F31L	ENSP00000300086:F31L	F	+	3	2	TERF2IP	74239374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.056000	0.49923	0.763000	0.33175	-0.136000	0.14681	TTC		0.682	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1		NM_018975		12	52	0	0	0	0.001855	0	12	52		
MLYCD	23417	broad.mit.edu	37	16	83948929	83948929	+	Silent	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:83948929G>T	ENST00000262430.4	+	5	1336	c.1317G>T	c.(1315-1317)gtG>gtT	p.V439V	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	439	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TGGCGGATGTGAGCCTCAGAG	0.637																																						uc002fgz.2		NaN																	0					0						c.(1315-1317)GTG>GTT		malonyl-CoA decarboxylase precursor							54.0	60.0	58.0					16																	83948929		2112	4230	6342	SO:0001819	synonymous_variant	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83948929G>T	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1317G>T	16.37:g.83948929G>T							p.V439V	NM_012213	NP_036345	O95822	DCMC_HUMAN			5	1337	+			439					Q9UNU5|Q9Y3F2	Silent	SNP	ENST00000262430.4	37	c.1317G>T	CCDS42206.1																																																																																				0.637	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1		NM_012213		121	71	1	0	1.799e-87	0.01441	2.11455e-87	121	71		
FOXC2	2303	broad.mit.edu	37	16	86601504	86601504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:86601504C>T	ENST00000320354.4	+	1	648	c.563C>T	c.(562-564)cCg>cTg	p.P188L	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	188					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GAGCCGCCCCCGGCGGCGTCC	0.701									Late-onset Hereditary Lymphedema																													uc002fjq.2		NaN																	0					0						c.(562-564)CCG>CTG		forkhead box C2							13.0	18.0	16.0					16																	86601504		1940	3963	5903	SO:0001583	missense	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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|transcription regulatory region DNA binding	g.chr16:86601504C>T	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.563C>T	16.37:g.86601504C>T	ENSP00000326371:p.Pro188Leu						p.P188L	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	648	+			188					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.563C>T	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	c	5.266	0.234597	0.09969	.	.	ENSG00000176692	ENST00000320354	D	0.95554	-3.74	3.61	3.61	0.41365	.	3.455040	0.01879	U	0.037711	D	0.93145	0.7817	L	0.43152	1.355	0.25000	N	0.991478	B	0.13145	0.007	B	0.08055	0.003	T	0.80037	-0.1550	10	0.23302	T	0.38	.	10.3252	0.43790	0.0:0.7985:0.2015:0.0	.	188	Q99958	FOXC2_HUMAN	L	188	ENSP00000326371:P188L	ENSP00000326371:P188L	P	+	2	0	FOXC2	85159005	0.022000	0.18835	0.383000	0.26132	0.104000	0.19210	0.080000	0.14802	1.868000	0.54150	0.553000	0.69018	CCG		0.701	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2		NM_005251		7	18	0	0	0	0.008291	0	7	18		
SPATA2L	124044	broad.mit.edu	37	16	89763774	89763774	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:89763774G>C	ENST00000289805.5	-	3	1311	c.1243C>G	c.(1243-1245)Ctg>Gtg	p.L415V	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	415										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		TTGTAGAGCAGAGTGTCCATC	0.687																																						uc002foj.2		NaN																	0					0						c.(1243-1245)CTG>GTG		spermatogenesis associated 2-like							8.0	10.0	9.0					16																	89763774		2152	4203	6355	SO:0001583	missense	124044							g.chr16:89763774G>C	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.1243C>G	16.37:g.89763774G>C	ENSP00000289805:p.Leu415Val					SPATA2L_uc002fok.2_Intron	p.L415V	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	1308	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	415					D3DX85|Q8NHV3	Missense_Mutation	SNP	ENST00000289805.5	37	c.1243C>G	CCDS10985.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463083	0.26248	.	.	ENSG00000158792	ENST00000289805	.	.	.	4.7	-4.36	0.03645	.	0.323435	0.24922	N	0.034538	T	0.32255	0.0823	L	0.32530	0.975	0.53688	D	0.999975	P	0.52061	0.95	P	0.46339	0.513	T	0.29088	-1.0023	9	0.72032	D	0.01	.	5.8629	0.18759	0.4916:0.0:0.382:0.1264	.	415	Q8IUW3	SPA2L_HUMAN	V	415	.	ENSP00000289805:L415V	L	-	1	2	SPATA2L	88291275	0.992000	0.36948	0.766000	0.31476	0.492000	0.33523	0.050000	0.14120	-0.432000	0.07297	-0.140000	0.14226	CTG		0.687	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1		NM_152339		4	14	0	0	0	0.009096	0	4	14		
FANCA	2175	broad.mit.edu	37	16	89807249	89807249	+	Missense_Mutation	SNP	G	G	T	rs397507553		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:89807249G>T	ENST00000389301.3	-	38	3821	c.3791C>A	c.(3790-3792)tCc>tAc	p.S1264Y	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.S1264Y	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1264					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCCCATCAAGGAGAAGAAGAA	0.453			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1		NaN	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(3790-3792)TCC>TAC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							85.0	79.0	81.0					16																	89807249		2198	4300	6498	SO:0001583	missense	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89807249G>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3791C>A	16.37:g.89807249G>T	ENSP00000373952:p.Ser1264Tyr					ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fos.3_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc010vpn.1_Missense_Mutation_p.S1264Y|FANCA_uc010vpo.1_Missense_Mutation_p.S350Y	p.S1264Y	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	38	3833	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1264					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3791C>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999574	0.74818	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.83673	-1.75	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000012	D	0.90957	0.7157	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.99;0.99	D	0.91899	0.5530	10	0.87932	D	0	-34.2881	16.2616	0.82550	0.0:0.0:1.0:0.0	.	241;1264;1264	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	Y	1264;241	ENSP00000373952:S1264Y	ENSP00000306281:S241Y	S	-	2	0	FANCA	88334750	1.000000	0.71417	0.984000	0.44739	0.904000	0.53231	5.225000	0.65294	2.586000	0.87340	0.561000	0.74099	TCC		0.453	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1				18	22	1	0	1.2644e-06	0.010504	1.32581e-06	18	22		
ZZEF1	23140	broad.mit.edu	37	17	3984727	3984727	+	Missense_Mutation	SNP	C	C	T	rs531018809		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:3984727C>T	ENST00000381638.2	-	18	2896	c.2772G>A	c.(2770-2772)atG>atA	p.M924I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	924							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CACTGATGTTCATCTTGGCCA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18346	0.0		0.0	False		,,,				2504	0.0					uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2770-2772)ATG>ATA		zinc finger, ZZ type with EF hand domain 1							140.0	126.0	130.0					17																	3984727		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3984727C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2772G>A	17.37:g.3984727C>T	ENSP00000371051:p.Met924Ile					ZZEF1_uc002fxk.1_Missense_Mutation_p.M925I	p.M924I	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			18	2836	-			924					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2772G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984518	0.35036	.	.	ENSG00000074755	ENST00000381638	T	0.19394	2.15	5.36	4.37	0.52481	.	0.337701	0.36854	N	0.002373	T	0.12050	0.0293	N	0.14661	0.345	0.26580	N	0.973405	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.002	T	0.15578	-1.0432	10	0.40728	T	0.16	-2.9715	8.6437	0.33991	0.2624:0.4714:0.2662:0.0	.	925;924	O43149-3;O43149	.;ZZEF1_HUMAN	I	924	ENSP00000371051:M924I	ENSP00000371051:M924I	M	-	3	0	ZZEF1	3931476	0.969000	0.33509	0.452000	0.26994	0.860000	0.49131	1.151000	0.31651	1.209000	0.43321	0.591000	0.81541	ATG		0.498	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		44	50	0	0	0	0.01441	0	44	50		
ZZEF1	23140	broad.mit.edu	37	17	4045961	4045961	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:4045961G>A	ENST00000381638.2	-	1	353	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	ZZEF1_ENST00000574474.1_5'UTR|CYB5D2_ENST00000573984.1_5'Flank|CYB5D2_ENST00000575251.1_5'Flank|CYB5D2_ENST00000301391.3_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	77							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AACGCGCCGCGATGCCTCGAC	0.721																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(229-231)CGC>TGC		zinc finger, ZZ type with EF hand domain 1							12.0	15.0	14.0					17																	4045961		2054	4080	6134	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4045961G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.229C>T	17.37:g.4045961G>A	ENSP00000371051:p.Arg77Cys					ZZEF1_uc002fxk.1_Missense_Mutation_p.R77C|CYB5D2_uc002fxm.3_5'Flank|CYB5D2_uc010cko.2_5'Flank|CYB5D2_uc002fxl.3_5'Flank	p.R77C	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			1	293	-			77					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.229C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865180	0.71949	.	.	ENSG00000074755	ENST00000381638	T	0.21734	1.99	5.13	5.13	0.70059	.	0.219178	0.48286	D	0.000181	T	0.10594	0.0259	N	0.08118	0	0.42532	D	0.993049	P;P	0.38110	0.618;0.484	B;B	0.17722	0.019;0.009	T	0.15983	-1.0418	10	0.72032	D	0.01	-9.0787	17.9211	0.88966	0.0:0.0:1.0:0.0	.	77;77	O43149-3;O43149	.;ZZEF1_HUMAN	C	77	ENSP00000371051:R77C	ENSP00000371051:R77C	R	-	1	0	ZZEF1	3992710	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.448000	0.66612	2.522000	0.85027	0.561000	0.74099	CGC		0.721	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		8	11	0	0	0	0.008291	0	8	11		
USP6	9098	broad.mit.edu	37	17	5041507	5041507	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:5041507C>T	ENST00000574788.1	+	21	3247	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	USP6_ENST00000250066.6_Silent_p.L339L|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Silent_p.L339L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	339					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACACCGTGCTCAAGCATCTTA	0.577			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1		NaN		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(1015-1017)CTC>CTT		ubiquitin specific protease 6							142.0	141.0	141.0					17																	5041507		2203	4300	6503	SO:0001819	synonymous_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5041507C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1017C>T	17.37:g.5041507C>T						USP6_uc002gav.1_Silent_p.L339L|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank	p.L339L	NM_004505	NP_004496	P35125	UBP6_HUMAN			21	3247	+			339					Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.1017C>T	CCDS11069.2																																																																																				0.577	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1		NM_004505		30	93	0	0	0	0.010818	0	30	93		
PITPNM3	83394	broad.mit.edu	37	17	6374547	6374547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:6374547C>A	ENST00000262483.8	-	12	1645	c.1558G>T	c.(1558-1560)Gag>Tag	p.E520*	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Nonsense_Mutation_p.E484*	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	520	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GAGCTCCCCTCGCTCATCCTC	0.687																																						uc002gdd.3		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1558-1560)GAG>TAG		PITPNM family member 3 isoform 1							29.0	32.0	31.0					17																	6374547		2203	4300	6503	SO:0001587	stop_gained	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6374547C>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1558G>T	17.37:g.6374547C>A	ENSP00000262483:p.Glu520*					PITPNM3_uc010cln.2_Nonsense_Mutation_p.E484*|PITPNM3_uc010clm.2_Nonsense_Mutation_p.E3*|PITPNM3_uc002gdc.3_Nonsense_Mutation_p.E111*	p.E520*	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	12	1709	-			520			DDHD.		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Nonsense_Mutation	SNP	ENST00000262483.8	37	c.1558G>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	37	6.300336	0.97453	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	.	.	.	4.8	1.34	0.21922	.	0.982197	0.08319	N	0.964217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	3.5508	0.07845	0.134:0.3681:0.3942:0.1037	.	.	.	.	X	520;484	.	ENSP00000262483:E520X	E	-	1	0	PITPNM3	6315271	0.997000	0.39634	0.963000	0.40424	0.454000	0.32378	0.550000	0.23345	0.526000	0.28541	0.561000	0.74099	GAG		0.687	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2		NM_031220		7	18	1	0	0.00448238	0.004482	0.00460075	7	18		
ASGR2	433	broad.mit.edu	37	17	7010563	7010563	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:7010563G>A	ENST00000380952.2	-	6	762	c.498C>T	c.(496-498)ctC>ctT	p.L166L	ASGR2_ENST00000446679.2_Silent_p.L147L|ASGR2_ENST00000254850.7_Silent_p.L142L|ASGR2_ENST00000355035.5_Silent_p.L166L	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	166					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TGCTGTGGAGGAGCTCCATCT	0.642																																						uc002gep.3		NaN																	0				ovary(1)	1						c.(496-498)CTC>CTT		asialoglycoprotein receptor 2 isoform a	Antihemophilic Factor(DB00025)						69.0	67.0	68.0					17																	7010563		2203	4300	6503	SO:0001819	synonymous_variant	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7010563G>A	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.498C>T	17.37:g.7010563G>A						ASGR2_uc010vtk.1_Silent_p.L3L|ASGR2_uc002gem.1_Silent_p.L105L|ASGR2_uc002gen.1_Silent_p.L147L|ASGR2_uc002geo.1_Silent_p.L161L|ASGR2_uc002ger.3_Silent_p.L166L|ASGR2_uc002geq.3_Silent_p.L142L	p.L166L	NM_001181	NP_001172	P07307	ASGR2_HUMAN			6	763	-			166			Extracellular (Potential).		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Silent	SNP	ENST00000380952.2	37	c.498C>T	CCDS32544.1																																																																																				0.642	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1		NM_080914		10	14	0	0	0	0.010729	0	10	14		
MYH3	4621	broad.mit.edu	37	17	10539066	10539067	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:10539066_10539067CC>TT	ENST00000583535.1	-	29	4047_4048	c.3960_3961GG>AA	c.(3958-3963)ctGGag>ctAAag	p.E1321K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1321K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1321					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTCTTCCTCCAGCTGCCTCT	0.426																																						uc002gmq.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3958-3963)CTGGAG>CTAAAG		myosin, heavy chain 3, skeletal muscle,																																				SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10539066_10539067CC>TT		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3960_3961delinsTT	17.37:g.10539066_10539067delinsTT	ENSP00000464317:p.Glu1321Lys						p.E1321K	NM_002470	NP_002461	P11055	MYH3_HUMAN			28	4037_4038	-			1321			Potential.		Q15492	Missense_Mutation	DNP	ENST00000583535.1	37	c.3960_3961GG>AA	CCDS11157.1																																																																																				0.426	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2		NM_002470		52	77	0	0	0	0.004672	0	52	77		
PIP4K2B	8396	broad.mit.edu	37	17	36935741	36935741	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:36935741G>C	ENST00000269554.3	-	5	1029	c.549C>G	c.(547-549)ttC>ttG	p.F183L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	183	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ACATGCCCAGGAACTGTGGCA	0.522																																						uc002hqs.2		NaN																	0				ovary(1)	1						c.(547-549)TTC>TTG		phosphatidylinositol-5-phosphate 4-kinase, type							141.0	100.0	114.0					17																	36935741		2203	4300	6503	SO:0001583	missense	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36935741G>C	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.549C>G	17.37:g.36935741G>C	ENSP00000269554:p.Phe183Leu					PIP4K2B_uc010wdt.1_Missense_Mutation_p.F183L|PIP4K2B_uc010wdu.1_Missense_Mutation_p.F119L	p.F183L	NM_003559	NP_003550	P78356	PI42B_HUMAN			5	1030	-			183			PIPK.		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	c.549C>G	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630452	0.67015	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.37915	1.17	5.17	2.11	0.27256	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	M	0.86028	2.79	0.58432	D	0.999996	D;D;D	0.62365	0.991;0.989;0.971	P;P;D	0.62955	0.906;0.817;0.909	T	0.59215	-0.7496	10	0.72032	D	0.01	-16.1427	9.4552	0.38750	0.2342:0.0:0.7658:0.0	.	183;183;183	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	L	183	ENSP00000269554:F183L	ENSP00000269554:F183L	F	-	3	2	PIP4K2B	34189267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.759000	0.55227	0.343000	0.23821	0.655000	0.94253	TTC		0.522	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1		NM_003559		17	42	0	0	0	0.00499	0	17	42		
MED24	9862	broad.mit.edu	37	17	38192035	38192035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:38192035G>A	ENST00000394128.2	-	5	347	c.266C>T	c.(265-267)tCt>tTt	p.S89F	MED24_ENST00000501516.3_Missense_Mutation_p.S89F|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394126.1_Missense_Mutation_p.S114F|MED24_ENST00000394127.2_Missense_Mutation_p.S76F|MED24_ENST00000356271.3_Missense_Mutation_p.S76F	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	89					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CAGGTCCCGAGAAAAGTCATC	0.532																																						uc002htt.2		NaN																	0				ovary(1)	1						c.(265-267)TCT>TTT		mediator complex subunit 24 isoform 1							98.0	78.0	85.0					17																	38192035		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38192035G>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.266C>T	17.37:g.38192035G>A	ENSP00000377686:p.Ser89Phe					MED24_uc010wes.1_5'Flank|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.S114F|MED24_uc002htu.2_Missense_Mutation_p.S76F|MED24_uc010cwn.2_Missense_Mutation_p.S76F|MED24_uc010weu.1_Intron|MED24_uc010wev.1_Missense_Mutation_p.S39F|MED24_uc010wew.1_Missense_Mutation_p.S18F|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.S39F|MED24_uc010wfb.1_Missense_Mutation_p.S101F|MED24_uc010wfc.1_Missense_Mutation_p.S26F	p.S89F	NM_014815	NP_055630	O75448	MED24_HUMAN			5	579	-	Colorectal(19;0.000442)		89					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.266C>T	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148817	0.57151	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000543759;ENST00000537674;ENST00000535508;ENST00000428757	T;T;T	0.68331	0.78;0.78;-0.32	5.55	5.55	0.83447	Mediator complex, subunit Med24, N-terminal (1);	0.116812	0.64402	D	0.000010	T	0.74481	0.3722	L	0.41236	1.265	0.80722	D	1	D;D;P;D;D;D	0.89917	0.997;1.0;0.483;1.0;1.0;1.0	D;D;B;D;D;D	0.91635	0.966;0.999;0.158;0.998;0.998;0.999	T	0.64935	-0.6290	10	0.09843	T	0.71	-24.6398	19.6982	0.96039	0.0:0.0:1.0:0.0	.	44;76;39;39;76;89	B9TX63;B9TX65;B4DV99;F5H5K2;O75448-2;O75448	.;.;.;.;.;MED24_HUMAN	F	89;89;89;39;76;63;63;63;89	ENSP00000377686:S89F;ENSP00000443344:S39F;ENSP00000377685:S76F	ENSP00000348610:S89F	S	-	2	0	MED24	35445561	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.283000	0.95860	2.894000	0.99253	0.655000	0.94253	TCT		0.532	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2		NM_014815		8	47	0	0	0	0.004482	0	8	47		
NR1D1	9572	broad.mit.edu	37	17	38253600	38253600	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:38253600C>G	ENST00000246672.3	-	2	718	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	30	Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					TAGAGGGATTCAGGGCTGGTG	0.587																																						uc002htz.1		NaN																	0				skin(1)	1						c.(88-90)GAA>CAA		nuclear receptor subfamily 1, group D, member 1							59.0	64.0	62.0					17																	38253600		2203	4300	6503	SO:0001583	missense	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38253600C>G	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.88G>C	17.37:g.38253600C>G	ENSP00000246672:p.Glu30Gln					NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_5'Flank	p.E30Q	NM_021724	NP_068370	P20393	NR1D1_HUMAN			2	714	-	Colorectal(19;0.000442)		30					Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	c.88G>C	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384240	0.42308	.	.	ENSG00000126368	ENST00000246672	D	0.90444	-2.67	4.72	3.75	0.43078	.	0.349688	0.24303	N	0.039718	D	0.83087	0.5178	N	0.24115	0.695	0.31408	N	0.675793	B	0.31100	0.308	B	0.31869	0.137	T	0.80989	-0.1136	10	0.33141	T	0.24	.	11.4536	0.50167	0.0:0.9115:0.0:0.0885	.	30	P20393	NR1D1_HUMAN	Q	30	ENSP00000246672:E30Q	ENSP00000246672:E30Q	E	-	1	0	NR1D1	35507126	1.000000	0.71417	0.771000	0.31576	0.936000	0.57629	5.200000	0.65158	1.223000	0.43536	0.462000	0.41574	GAA		0.587	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1				17	22	0	0	0	0.010504	0	17	22		
CASC3	22794	broad.mit.edu	37	17	38297460	38297460	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:38297460G>T	ENST00000264645.7	+	2	458	c.232G>T	c.(232-234)Gag>Tag	p.E78*		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	78					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TTTCTTTCAGGAGAGTGAAGA	0.403																																						uc010cwt.1		NaN																	0				ovary(1)	1						c.(232-234)GAG>TAG		metastatic lymph node 51							186.0	172.0	177.0					17																	38297460		2203	4300	6503	SO:0001630	splice_region_variant	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38297460G>T	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.232-1G>T	17.37:g.38297460G>T						CASC3_uc010cws.1_Nonsense_Mutation_p.E78*|CASC3_uc002hue.2_Nonsense_Mutation_p.E78*	p.E78*	NM_007359	NP_031385	O15234	CASC3_HUMAN			2	527	+			78					A8K8R0	Nonsense_Mutation	SNP	ENST00000264645.7	37	c.232G>T	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	36	5.896255	0.97081	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.02	5.02	0.67125	.	0.156525	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.1814	15.3717	0.74570	0.0:0.0:1.0:0.0	.	.	.	.	X	78	.	.	E	+	1	0	CASC3	35550986	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	6.075000	0.71261	2.603000	0.88011	0.555000	0.69702	GAG		0.403	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3		NM_007359	Nonsense_Mutation	59	86	1	0	2.6465e-34	0.01441	3.09821e-34	59	86		
TOP2A	7153	broad.mit.edu	37	17	38569453	38569453	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:38569453G>C	ENST00000423485.1	-	6	728	c.570C>G	c.(568-570)ttC>ttG	p.F190L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	190					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.F190L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTGCCTGTTTGAACATTTTCT	0.328																																						uc002huq.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(568-570)TTC>TTG		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						97.0	81.0	86.0					17																	38569453		1830	4069	5899	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38569453G>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.570C>G	17.37:g.38569453G>C	ENSP00000411532:p.Phe190Leu					TOP2A_uc002hur.1_5'Flank	p.F190L	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		6	696	-		Breast(137;0.00328)	190					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.570C>G	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	g	15.87	2.960091	0.53400	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.26373	1.74	5.52	4.54	0.55810	ATPase-like, ATP-binding domain (4);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.049994	0.85682	D	0.000000	T	0.38772	0.1053	M	0.79475	2.455	0.54753	D	0.999982	B	0.32526	0.374	B	0.42827	0.399	T	0.30119	-0.9989	10	0.51188	T	0.08	.	11.9533	0.52966	0.138:0.0:0.862:0.0	.	190	P11388	TOP2A_HUMAN	L	190;189;189;190	ENSP00000411532:F190L	ENSP00000269577:F189L	F	-	3	2	TOP2A	35822979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.450000	0.35134	2.617000	0.88574	0.580000	0.79431	TTC		0.328	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1				2	5	0	0	0	0.004672	0	2	5		
KRT12	3859	broad.mit.edu	37	17	39017927	39017927	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:39017927C>T	ENST00000251643.4	-	8	1494	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	491	Tail.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E491Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	ATTAGTTCTTCAATTTCCTGA	0.373																																						uc002hvk.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1471-1473)GAA>AAA		keratin 12							126.0	125.0	125.0					17																	39017927		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39017927C>T		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1471G>A	17.37:g.39017927C>T	ENSP00000251643:p.Glu491Lys						p.E491K	NM_000223	NP_000214	Q99456	K1C12_HUMAN			8	1495	-		Breast(137;0.000301)	491			Tail.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.1471G>A	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081826	0.55861	.	.	ENSG00000187242	ENST00000251643	D	0.82526	-1.62	5.41	3.35	0.38373	.	0.143577	0.31936	N	0.006839	T	0.71195	0.3311	N	0.17800	0.525	0.35030	D	0.758685	P	0.41393	0.748	B	0.35182	0.197	T	0.77498	-0.2565	10	0.59425	D	0.04	.	15.8286	0.78733	0.0:0.7432:0.2568:0.0	.	491	Q99456	K1C12_HUMAN	K	491	ENSP00000251643:E491K	ENSP00000251643:E491K	E	-	1	0	KRT12	36271453	0.847000	0.29606	0.906000	0.35671	0.975000	0.68041	1.357000	0.34090	0.599000	0.29845	0.655000	0.94253	GAA		0.373	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2		NM_000223		9	57	0	0	0	0.003163	0	9	57		
KRT12	3859	broad.mit.edu	37	17	39017933	39017933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:39017933C>A	ENST00000251643.4	-	8	1488	c.1465G>T	c.(1465-1467)Gaa>Taa	p.E489*	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	489	Tail.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TCTTCAATTTCCTGAACTTGA	0.368																																						uc002hvk.2		NaN																	0				ovary(1)	1						c.(1465-1467)GAA>TAA		keratin 12							129.0	128.0	128.0					17																	39017933		2203	4300	6503	SO:0001587	stop_gained	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39017933C>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1465G>T	17.37:g.39017933C>A	ENSP00000251643:p.Glu489*						p.E489*	NM_000223	NP_000214	Q99456	K1C12_HUMAN			8	1489	-		Breast(137;0.000301)	489			Tail.		B2R9E0	Nonsense_Mutation	SNP	ENST00000251643.4	37	c.1465G>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624132	0.96660	.	.	ENSG00000187242	ENST00000251643	.	.	.	5.66	5.66	0.87406	.	0.000000	0.49916	D	0.000130	.	.	.	.	.	.	0.45025	D	0.998046	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.7452	0.96250	0.0:1.0:0.0:0.0	.	.	.	.	X	489	.	ENSP00000251643:E489X	E	-	1	0	KRT12	36271459	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.488000	0.60300	2.665000	0.90641	0.655000	0.94253	GAA		0.368	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2		NM_000223		11	65	1	0	6.31663e-08	0.003163	6.67136e-08	11	65		
FAM134C	162427	broad.mit.edu	37	17	40733844	40733844	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:40733844G>C	ENST00000309428.5	-	9	1447	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	FAM134C_ENST00000543197.1_Missense_Mutation_p.S268C|FAM134C_ENST00000585894.1_Missense_Mutation_p.S366C	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	463						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GTGGCTCCTAGAACTGGCAGG	0.547																																						uc002ial.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1387-1389)TCT>TGT		hypothetical protein LOC162427							27.0	27.0	27.0					17																	40733844		2203	4297	6500	SO:0001583	missense	162427					integral to membrane		g.chr17:40733844G>C	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.1388C>G	17.37:g.40733844G>C	ENSP00000309432:p.Ser463Cys					FAM134C_uc010wgq.1_Missense_Mutation_p.S263C|FAM134C_uc002iam.1_Missense_Mutation_p.S263C|FAM134C_uc010cyk.1_Missense_Mutation_p.S366C	p.S463C	NM_178126	NP_835227	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	9	1491	-		Breast(137;0.00116)	463					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.1388C>G	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922075	0.73213	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.54071	0.59;0.63	5.38	5.38	0.77491	.	0.111273	0.64402	D	0.000007	T	0.66829	0.2829	L	0.44542	1.39	0.49915	D	0.999832	D	0.89917	1.0	D	0.69479	0.964	T	0.68228	-0.5464	10	0.87932	D	0	-21.4156	19.3168	0.94218	0.0:0.0:1.0:0.0	.	463	Q86VR2	F134C_HUMAN	C	463;268	ENSP00000309432:S463C;ENSP00000446235:S268C	ENSP00000309432:S463C	S	-	2	0	FAM134C	37987370	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.564000	0.73969	2.786000	0.95864	0.563000	0.77884	TCT		0.547	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1		NM_178126		16	34	0	0	0	0.007413	0	16	34		
ADAM11	4185	broad.mit.edu	37	17	42849819	42849819	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:42849819G>C	ENST00000200557.6	+	8	832	c.663G>C	c.(661-663)ctG>ctC	p.L221L	ADAM11_ENST00000535346.1_Missense_Mutation_p.E23Q	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	221					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGCCGAGGCTGAGAAGGAAAA	0.706																																						uc002ihh.2		NaN																	0				pancreas(1)	1						c.(661-663)CTG>CTC		ADAM metallopeptidase domain 11 preproprotein							13.0	16.0	15.0					17																	42849819		2166	4257	6423	SO:0001819	synonymous_variant	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42849819G>C	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.663G>C	17.37:g.42849819G>C						ADAM11_uc010wjd.1_Missense_Mutation_p.E23Q	p.L221L	NM_002390	NP_002381	O75078	ADA11_HUMAN			8	663	+		Prostate(33;0.0959)	221					Q14808|Q14809|Q14810	Silent	SNP	ENST00000200557.6	37	c.663G>C	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024206	0.35701	.	.	ENSG00000073670	ENST00000535346	T	0.01474	4.85	4.44	3.46	0.39613	.	.	.	.	.	T	0.01558	0.0050	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.17098	0.017	T	0.48269	-0.9050	8	0.23891	T	0.37	.	8.7918	0.34854	0.1101:0.0:0.8899:0.0	.	23	B4DKD2	.	Q	23	ENSP00000443773:E23Q	ENSP00000443773:E23Q	E	+	1	0	ADAM11	40205345	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.886000	0.28241	1.057000	0.40506	0.491000	0.48974	GAG		0.706	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1		NM_002390		3	7	0	0	0	0.004672	0	3	7		
PLEKHM1	9842	broad.mit.edu	37	17	43522898	43522898	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:43522898C>G	ENST00000430334.3	-	9	2908	c.2775G>C	c.(2773-2775)ctG>ctC	p.L925L	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.L836L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	925					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCAGGAGCTTCAGCTGCTCCC	0.607																																						uc002ija.2		NaN																	0					0						c.(2773-2775)CTG>CTC		pleckstrin homology domain containing, family M							53.0	51.0	52.0					17																	43522898		2202	4299	6501	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43522898C>G	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2775G>C	17.37:g.43522898C>G						PLEKHM1_uc010wjm.1_Silent_p.L897L|PLEKHM1_uc002ijb.2_Silent_p.L400L|PLEKHM1_uc010wjn.1_Silent_p.L874L	p.L925L	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			9	2945	-	Renal(3;0.0405)		925					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.2775G>C	CCDS32671.1																																																																																				0.607	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1		NM_014798		17	57	0	0	0	0.006122	0	17	57		
MYCBPAP	84073	broad.mit.edu	37	17	48604701	48604701	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:48604701C>T	ENST00000323776.5	+	15	2514	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	MYCBPAP_ENST00000436259.2_Silent_p.L747L	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGATGAGGCTCAACAAAGCAG	0.592																																						uc010wmr.1		NaN																	0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(2350-2352)CTC>CTT		Myc-binding protein-associated protein							167.0	124.0	139.0					17																	48604701		2203	4300	6503	SO:0001819	synonymous_variant	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48604701C>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.2352C>T	17.37:g.48604701C>T						MYCBPAP_uc002iqz.2_RNA	p.L784L	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		15	2514	+	Breast(11;1.23e-18)		747						Silent	SNP	ENST00000323776.5	37	c.2352C>T	CCDS32680.2																																																																																				0.592	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1		NM_032133		20	119	0	0	0	0.010504	0	20	119		
CACNA1G	8913	broad.mit.edu	37	17	48655779	48655779	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:48655779G>C	ENST00000359106.5	+	9	2155	c.2155G>C	c.(2155-2157)Gat>Cat	p.D719H	CACNA1G_ENST00000510366.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D719H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D719H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D719H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D719H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D719H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D719H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D719H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.D719H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D719H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D719H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	719					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGGCCCAGATGCAGAGCC	0.602																																						uc002irk.1		NaN																	0				breast(1)	1						c.(2155-2157)GAT>CAT		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						54.0	59.0	58.0					17																	48655779		1957	4150	6107	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48655779G>C	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2155G>C	17.37:g.48655779G>C	ENSP00000352011:p.Asp719His					CACNA1G_uc002iri.1_Missense_Mutation_p.D719H|CACNA1G_uc002irj.1_Missense_Mutation_p.D719H|CACNA1G_uc002irl.1_Missense_Mutation_p.D719H|CACNA1G_uc002irm.1_Missense_Mutation_p.D719H|CACNA1G_uc002irn.1_Missense_Mutation_p.D719H|CACNA1G_uc002iro.1_Missense_Mutation_p.D719H|CACNA1G_uc002irp.1_Missense_Mutation_p.D719H|CACNA1G_uc002irq.1_Missense_Mutation_p.D719H|CACNA1G_uc002irr.1_Missense_Mutation_p.D719H|CACNA1G_uc002irs.1_Missense_Mutation_p.D719H|CACNA1G_uc002irt.1_Missense_Mutation_p.D719H|CACNA1G_uc002irv.1_Missense_Mutation_p.D719H|CACNA1G_uc002irw.1_Missense_Mutation_p.D719H|CACNA1G_uc002iru.1_Missense_Mutation_p.D719H|CACNA1G_uc002irx.1_Missense_Mutation_p.D632H|CACNA1G_uc002iry.1_Missense_Mutation_p.D632H|CACNA1G_uc002irz.1_Missense_Mutation_p.D632H|CACNA1G_uc002isa.1_Missense_Mutation_p.D632H|CACNA1G_uc002isb.1_Missense_Mutation_p.D632H|CACNA1G_uc002isc.1_Missense_Mutation_p.D632H|CACNA1G_uc002isd.1_Missense_Mutation_p.D632H|CACNA1G_uc002ise.1_Missense_Mutation_p.D632H|CACNA1G_uc002isf.1_Missense_Mutation_p.D632H|CACNA1G_uc002isg.1_Missense_Mutation_p.D632H|CACNA1G_uc002ish.1_Missense_Mutation_p.D632H|CACNA1G_uc002isi.1_Missense_Mutation_p.D632H	p.D719H	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		9	2527	+	Breast(11;6.7e-17)		719			Cytoplasmic (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.2155G>C	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	9.196	1.027172	0.19512	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96745	-3.97;-3.97;-4.11;-3.91;-3.96;-3.97;-3.99;-4.07;-4.04;-4.05;-4.06;-3.93;-3.93;-4.01;-3.95;-3.91;-3.99;-3.95;-3.93;-3.99;-3.97;-3.93;-3.99;-3.93;-3.99;-3.99	4.98	4.01	0.46588	.	43.140500	0.00166	N	0.000000	D	0.96426	0.8834	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;D;B;B;B;P;B	0.69078	0.215;0.082;0.075;0.155;0.082;0.13;0.417;0.075;0.251;0.008;0.579;0.134;0.082;0.075;0.374;0.041;0.075;0.173;0.132;0.082;0.997;0.082;0.075;0.001;0.553;0.123	B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B	0.57283	0.242;0.104;0.176;0.395;0.149;0.245;0.461;0.221;0.245;0.022;0.264;0.21;0.104;0.176;0.33;0.149;0.149;0.241;0.221;0.149;0.817;0.104;0.176;0.007;0.28;0.286	D	0.87469	0.2413	10	0.42905	T	0.14	.	8.1698	0.31247	0.3018:0.0:0.6982:0.0	.	719;719;719;719;719;719;719;719;719;719;719;719;719;719;719;719;719;719;719;719;719;719;719;719;719;719	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	H	719	ENSP00000353990:D719H;ENSP00000339302:D719H;ENSP00000392390:D719H;ENSP00000347078:D719H;ENSP00000409759:D719H;ENSP00000425522:D719H;ENSP00000426261:D719H;ENSP00000425451:D719H;ENSP00000422407:D719H;ENSP00000426814:D719H;ENSP00000427238:D719H;ENSP00000423112:D719H;ENSP00000420918:D719H;ENSP00000426172:D719H;ENSP00000423045:D719H;ENSP00000427173:D719H;ENSP00000426098:D719H;ENSP00000425698:D719H;ENSP00000426232:D719H;ENSP00000423317:D719H;ENSP00000350979:D719H;ENSP00000352011:D719H;ENSP00000414388:D719H;ENSP00000423155:D719H;ENSP00000422268:D719H;ENSP00000421518:D719H	ENSP00000339302:D719H	D	+	1	0	CACNA1G	46010778	0.463000	0.25799	0.010000	0.14722	0.501000	0.33797	1.683000	0.37638	1.098000	0.41479	0.655000	0.94253	GAT		0.602	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896		17	61	0	0	0	0.004007	0	17	61		
HEATR6	63897	broad.mit.edu	37	17	58123500	58123500	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:58123500C>G	ENST00000184956.6	-	19	2876	c.2860G>C	c.(2860-2862)Gag>Cag	p.E954Q	HEATR6_ENST00000585976.1_Missense_Mutation_p.E842Q	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	954							poly(A) RNA binding (GO:0044822)	p.E954Q(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ATAGACTCCTCAATGATTTCT	0.393																																						uc002iyk.1		NaN																	1	Substitution - Missense(1)		NS(1)	ovary(1)|skin(1)	2						c.(2860-2862)GAG>CAG		HEAT repeat containing 6							105.0	106.0	106.0					17																	58123500		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58123500C>G	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2860G>C	17.37:g.58123500C>G	ENSP00000184956:p.Glu954Gln					HEATR6_uc010ddk.1_Missense_Mutation_p.E493Q|HEATR6_uc010wos.1_Missense_Mutation_p.E674Q	p.E954Q	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		19	2877	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		954					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.2860G>C	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265527	0.59431	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.67865	-0.29	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	L	0.35542	1.07	0.26692	N	0.971338	B;D	0.71674	0.197;0.998	B;D	0.62955	0.08;0.909	T	0.63812	-0.6552	10	0.25106	T	0.35	-18.7067	18.7064	0.91640	0.0:1.0:0.0:0.0	.	689;954	E7ESB9;Q6AI08	.;HEAT6_HUMAN	Q	954;689	ENSP00000184956:E954Q	ENSP00000184956:E954Q	E	-	1	0	HEATR6	55478282	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.789000	0.55454	2.740000	0.93945	0.650000	0.86243	GAG		0.393	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1		NM_022070		25	62	0	0	0	0.008361	0	25	62		
HEATR6	63897	broad.mit.edu	37	17	58156241	58156241	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:58156241G>A	ENST00000184956.6	-	1	51	c.35C>T	c.(34-36)tCc>tTc	p.S12F	HEATR6_ENST00000585976.1_Missense_Mutation_p.S12F|CTD-2319I12.2_ENST00000589740.1_lincRNA|HEATR6_ENST00000585712.1_5'UTR	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	12							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CGGCTGCACGGAAGGCCACGA	0.652																																						uc002iyk.1		NaN																	0				ovary(1)|skin(1)	2						c.(34-36)TCC>TTC		HEAT repeat containing 6							19.0	18.0	18.0					17																	58156241		2202	4299	6501	SO:0001583	missense	63897						binding	g.chr17:58156241G>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.35C>T	17.37:g.58156241G>A	ENSP00000184956:p.Ser12Phe						p.S12F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		1	52	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		12					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.35C>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595102	0.28445	.	.	ENSG00000068097	ENST00000184956	T	0.47869	0.83	4.33	3.35	0.38373	.	0.712256	0.12998	N	0.421892	T	0.33962	0.0881	N	0.22421	0.69	0.09310	N	1	B	0.25955	0.138	B	0.25405	0.06	T	0.25117	-1.0141	10	0.49607	T	0.09	-0.0069	10.5347	0.44996	0.0:0.8:0.2:0.0	.	12	Q6AI08	HEAT6_HUMAN	F	12	ENSP00000184956:S12F	ENSP00000184956:S12F	S	-	2	0	HEATR6	55511023	0.003000	0.15002	0.003000	0.11579	0.001000	0.01503	0.925000	0.28791	1.427000	0.47276	-0.235000	0.12190	TCC		0.652	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1		NM_022070		4	26	0	0	0	0.000602	0	4	26		
GH1	2688	broad.mit.edu	37	17	61994708	61994708	+	Silent	SNP	G	G	A	rs148474991		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:61994708G>A	ENST00000323322.5	-	5	657	c.615C>T	c.(613-615)atC>atT	p.I205I	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Silent_p.I165I|GH1_ENST00000458650.2_Silent_p.I190I|GH1_ENST00000342364.4_Silent_p.I110I	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	205			I -> M (in short stature; idiopathic autosomal). {ECO:0000269|PubMed:15001589}.		bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.I205M(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGCACTGCACGATGCGCAGGA	0.592																																						uc002jdj.2		NaN																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM040745	GH1	M	rs148474991	c.(613-615)ATC>ATT		growth hormone 1 isoform 1							149.0	116.0	127.0					17																	61994708		2203	4297	6500	SO:0001819	synonymous_variant	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61994708G>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.615C>T	17.37:g.61994708G>A						GH1_uc002jdi.2_Silent_p.I190I|GH1_uc002jdk.2_Silent_p.I165I|GH1_uc002jdl.2_Silent_p.I110I|GH1_uc002jdm.2_3'UTR|GH1_uc002jdn.2_Missense_Mutation_p.S159L	p.I205I	NM_000515	NP_000506	P01241	SOMA_HUMAN			5	677	-			205		I -> M (in short stature; idiopathic autosomal).			A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	ENST00000323322.5	37	c.615C>T	CCDS11653.1																																																																																				0.592	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1		NM_000515		25	61	0	0	0	0.008361	0	25	61		
LRRC37A3	374819	broad.mit.edu	37	17	62854903	62854903	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:62854903G>C	ENST00000584306.1	-	12	5333	c.4803C>G	c.(4801-4803)ctC>ctG	p.L1601L	LRRC37A3_ENST00000319651.5_Silent_p.L1601L|LRRC37A3_ENST00000339474.5_Silent_p.L719L|LRRC37A3_ENST00000334962.5_Silent_p.L578L|LRRC37A3_ENST00000400877.3_Silent_p.L639L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1601						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTACCTCAATGAGGCAGAGAA	0.383																																						uc002jey.2		NaN																	0					0						c.(4801-4803)CTC>CTG		leucine rich repeat containing 37, member A3							128.0	129.0	129.0					17																	62854903		2203	4300	6503	SO:0001819	synonymous_variant	374819					integral to membrane		g.chr17:62854903G>C	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4803C>G	17.37:g.62854903G>C						LRRC37A3_uc010wqg.1_Silent_p.L719L|LRRC37A3_uc002jex.1_Silent_p.L578L|LRRC37A3_uc010wqf.1_Silent_p.L639L	p.L1601L	NM_199340	NP_955372	O60309	L37A3_HUMAN			12	5334	-			1601			Helical; (Potential).		Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	37	c.4803C>G	CCDS32708.1																																																																																				0.383	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1		NM_199340		20	57	0	0	0	0.007413	0	20	57		
ABCA6	23460	broad.mit.edu	37	17	67132242	67132242	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:67132242C>G	ENST00000284425.2	-	4	625	c.451G>C	c.(451-453)Gat>Cat	p.D151H	ABCA6_ENST00000590645.1_Missense_Mutation_p.D151H	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	151					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCTGAGAAATCTTCTTTCCAA	0.323																																						uc002jhw.1		NaN																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(451-453)GAT>CAT		ATP-binding cassette, sub-family A, member 6							34.0	34.0	34.0					17																	67132242		2203	4297	6500	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67132242C>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.451G>C	17.37:g.67132242C>G	ENSP00000284425:p.Asp151His					ABCA6_uc002jhy.2_Missense_Mutation_p.D149H	p.D151H	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			4	626	-	Breast(10;5.65e-12)		151					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.451G>C	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	9.043	0.990052	0.18966	.	.	ENSG00000154262	ENST00000284425	D	0.87491	-2.26	5.57	3.43	0.39272	.	2.022810	0.02607	N	0.101740	D	0.90038	0.6889	M	0.79011	2.435	0.09310	N	1	D;B	0.53462	0.96;0.0	P;B	0.48454	0.578;0.002	T	0.73658	-0.3913	10	0.35671	T	0.21	.	8.5649	0.33534	0.0:0.74:0.1681:0.0919	.	151;151	Q8N139-3;Q8N139	.;ABCA6_HUMAN	H	151	ENSP00000284425:D151H	ENSP00000284425:D151H	D	-	1	0	ABCA6	64643837	0.160000	0.22878	0.025000	0.17156	0.012000	0.07955	0.898000	0.28404	1.362000	0.46000	0.655000	0.94253	GAT		0.323	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1		NM_080284		5	31	0	0	0	0.001168	0	5	31		
CD300LF	146722	broad.mit.edu	37	17	72699199	72699199	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:72699199G>C	ENST00000326165.6	-	3	532	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	CD300LF_ENST00000581500.1_Missense_Mutation_p.L159V|CD300LF_ENST00000464910.1_Missense_Mutation_p.L144V|CD300LF_ENST00000583937.1_Missense_Mutation_p.L156V|CD300LF_ENST00000361254.4_Missense_Mutation_p.L159V|CD300LF_ENST00000469092.1_Missense_Mutation_p.L144V|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_Missense_Mutation_p.L144V|CD300LF_ENST00000301573.9_Missense_Mutation_p.L141V|RAB37_ENST00000340415.3_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	141					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGGCCGGTCAGAGTTGGGGAG	0.547																																						uc002jlg.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(421-423)CTG>GTG		NK inhibitory receptor precursor							204.0	165.0	178.0					17																	72699199		2203	4300	6503	SO:0001583	missense	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72699199G>C	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.421C>G	17.37:g.72699199G>C	ENSP00000327075:p.Leu141Val					RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Missense_Mutation_p.L144V|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Missense_Mutation_p.L141V|CD300LF_uc002jli.2_Missense_Mutation_p.L144V|CD300LF_uc010wra.1_Missense_Mutation_p.L156V|CD300LF_uc002jlj.1_Missense_Mutation_p.L159V	p.L141V	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN			3	524	-			141			Extracellular (Potential).		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.421C>G	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	G	5.651	0.304784	0.10678	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	T;T;T;T	0.04234	3.67;3.7;3.67;3.77	4.55	-7.24	0.01475	.	2.559860	0.01576	N	0.020817	T	0.03263	0.0095	N	0.25647	0.755	0.09310	N	1	B;B;B;B;B;B	0.24768	0.004;0.043;0.064;0.111;0.017;0.065	B;B;B;B;B;B	0.24541	0.001;0.019;0.054;0.041;0.003;0.011	T	0.36163	-0.9759	10	0.27785	T	0.31	.	3.4227	0.07400	0.0927:0.3043:0.1336:0.4695	.	156;159;144;141;141;144	E7EME0;Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5;Q8TDQ1;Q8TDQ1-6	.;.;.;.;CLM1_HUMAN;.	V	141;159;144;141	ENSP00000301573:L141V;ENSP00000355294:L159V;ENSP00000343751:L144V;ENSP00000327075:L141V	ENSP00000301573:L141V	L	-	1	2	CD300LF	70210794	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.068000	0.01382	-1.350000	0.02199	-0.181000	0.13052	CTG		0.547	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1		NM_139018		11	104	0	0	0	0.001855	0	11	104		
CDK3	1018	broad.mit.edu	37	17	73998125	73998125	+	Missense_Mutation	SNP	G	G	C	rs140567861		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:73998125G>C	ENST00000425876.2	+	3	305	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	CDK3_ENST00000448471.1_Missense_Mutation_p.E73Q|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E73K(1)		central_nervous_system(1)	1						GGTGCACAACGAGAGGAAGCT	0.572																																						uc010dgt.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)	1						c.(217-219)GAG>CAG		cyclin-dependent kinase 3							119.0	100.0	107.0					17																	73998125		2203	4300	6503	SO:0001583	missense	1018				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity	g.chr17:73998125G>C	X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.217G>C	17.37:g.73998125G>C	ENSP00000410561:p.Glu73Gln					CDK3_uc002jqg.3_Missense_Mutation_p.E101Q	p.E73Q	NM_001258	NP_001249	Q00526	CDK3_HUMAN			4	293	+			73			Protein kinase.			Missense_Mutation	SNP	ENST00000425876.2	37	c.217G>C	CCDS11736.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503986	0.26949	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	T;T	0.66280	-0.2;-0.2	4.76	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.356461	0.24020	N	0.042282	T	0.48370	0.1496	N	0.16903	0.455	0.39453	D	0.967437	B	0.24721	0.11	B	0.28916	0.096	T	0.52275	-0.8597	10	0.54805	T	0.06	-19.3585	13.3969	0.60858	0.0:0.171:0.8289:0.0	.	73	Q00526	CDK3_HUMAN	Q	73	ENSP00000400088:E73Q;ENSP00000410561:E73Q	ENSP00000410561:E73Q	E	+	1	0	CDK3	71509720	1.000000	0.71417	0.930000	0.37139	0.027000	0.11550	7.316000	0.79007	2.476000	0.83614	0.655000	0.94253	GAG		0.572	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2		NM_001258		14	68	0	0	0	0.006122	0	14	68		
C17orf70	80233	broad.mit.edu	37	17	79517599	79517599	+	Silent	SNP	C	C	T	rs373684364		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:79517599C>T	ENST00000327787.8	-	3	967	c.921G>A	c.(919-921)gtG>gtA	p.V307V	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Silent_p.V156V			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	307					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGTCACAGTGCACATCCTCGT	0.607																																						uc002kaq.2		NaN																	0				ovary(1)|skin(1)	2						c.(919-921)GTG>GTA		Fanconi anemia core complex 100 kDa subunit							50.0	51.0	51.0					17																	79517599		2202	4300	6502	SO:0001819	synonymous_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79517599C>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.921G>A	17.37:g.79517599C>T						C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.V156V	p.V307V	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		3	976	-	all_neural(118;0.0878)|Melanoma(429;0.242)		307					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	37	c.921G>A	CCDS32765.2																																																																																				0.607	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1		NM_025161		12	74	0	0	0	0.004007	0	12	74		
CD7	924	broad.mit.edu	37	17	80274738	80274738	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:80274738C>G	ENST00000312648.3	-	2	308	c.202G>C	c.(202-204)Gac>Cac	p.D68H	CD7_ENST00000583376.1_5'UTR|CD7_ENST00000578509.1_5'UTR|CD7_ENST00000584284.1_Missense_Mutation_p.D68H	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	68	Ig-like.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TAAATGATGTCTTGGGGCTGT	0.632																																					Pancreas(45;804 1068 19702 28207 28798)	uc002kel.1		NaN																	0					0						c.(202-204)GAC>CAC		CD7 antigen precursor							65.0	64.0	64.0					17																	80274738		2203	4300	6503	SO:0001583	missense	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274738C>G	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.202G>C	17.37:g.80274738C>G	ENSP00000312027:p.Asp68His					CD7_uc010din.2_Missense_Mutation_p.D68H|CD7_uc002kem.2_Missense_Mutation_p.R49T|CD7_uc010wvk.1_Missense_Mutation_p.D68H	p.D68H	NM_006137	NP_006128	P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		2	311	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		68			Ig-like.|Extracellular (Probable).			Missense_Mutation	SNP	ENST00000312648.3	37	c.202G>C	CCDS11807.1	.	.	.	.	.	.	.	.	.	.	C	7.135	0.580746	0.13686	.	.	ENSG00000173762	ENST00000312648	T	0.41065	1.01	3.27	-5.8	0.02347	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.688864	0.12885	N	0.431093	T	0.21145	0.0509	L	0.36672	1.1	0.19300	N	0.999975	P;B;B	0.35077	0.483;0.111;0.111	B;B;B	0.33042	0.157;0.064;0.064	T	0.09729	-1.0661	10	0.40728	T	0.16	-5.5191	0.4723	0.00534	0.3622:0.19:0.122:0.3258	.	68;68;68	B4DNW9;Q29VG3;P09564	.;.;CD7_HUMAN	H	68	ENSP00000312027:D68H	ENSP00000312027:D68H	D	-	1	0	CD7	77868027	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-5.005000	0.00161	-1.389000	0.02090	-0.671000	0.03813	GAC		0.632	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1		NM_006137		24	55	0	0	0	0.00632	0	24	55		
SLC14A2	8170	broad.mit.edu	37	18	43206949	43206949	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:43206949G>C	ENST00000255226.6	+	4	1174	c.358G>C	c.(358-360)Gac>Cac	p.D120H	SLC14A2_ENST00000586448.1_Missense_Mutation_p.D120H	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	120					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCAGTTCATAGACTGGGTCCT	0.557																																						uc010dnj.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(358-360)GAC>CAC		solute carrier family 14 (urea transporter),							100.0	85.0	90.0					18																	43206949		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43206949G>C	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.358G>C	18.37:g.43206949G>C	ENSP00000255226:p.Asp120His					SLC14A2_uc002lbb.2_Missense_Mutation_p.D120H|SLC14A2_uc002lbe.2_Missense_Mutation_p.D120H	p.D120H	NM_007163	NP_009094	Q15849	UT2_HUMAN			5	679	+			120					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.358G>C	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769987	0.90020	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	T;T	0.53857	0.6;0.6	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	M	0.91972	3.26	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84158	0.0427	10	0.87932	D	0	-42.8228	18.6887	0.91574	0.0:0.0:1.0:0.0	.	120;120	Q15849;E7EPU1	UT2_HUMAN;.	H	120	ENSP00000255226:D120H;ENSP00000320689:D120H	ENSP00000255226:D120H	D	+	1	0	SLC14A2	41460947	1.000000	0.71417	0.982000	0.44146	0.908000	0.53690	7.103000	0.77014	2.653000	0.90120	0.467000	0.42956	GAC		0.557	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1				18	78	0	0	0	0.012319	0	18	78		
SLC14A2	8170	broad.mit.edu	37	18	43216988	43216988	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:43216988C>T	ENST00000255226.6	+	6	1500	c.684C>T	c.(682-684)ttC>ttT	p.F228F	SLC14A2_ENST00000586448.1_Silent_p.F228F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	228					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTCCATCTTCAGCAAGTGGG	0.512																																						uc010dnj.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(682-684)TTC>TTT		solute carrier family 14 (urea transporter),							250.0	244.0	246.0					18																	43216988		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43216988C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.684C>T	18.37:g.43216988C>T						SLC14A2_uc002lbb.2_Silent_p.F228F|SLC14A2_uc002lbe.2_Silent_p.F228F	p.F228F	NM_007163	NP_009094	Q15849	UT2_HUMAN			7	1005	+			228					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.684C>T	CCDS11924.1																																																																																				0.512	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1				107	236	0	0	0	0.01441	0	107	236		
C18orf25	147339	broad.mit.edu	37	18	43842948	43842948	+	Missense_Mutation	SNP	C	C	T	rs374621291	byFrequency	TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:43842948C>T	ENST00000282059.6	+	5	1453	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	C18orf25_ENST00000321319.6_Missense_Mutation_p.S299L	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	360										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						AAGCATGGCTCGGGCACGCAG	0.493													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20809	0.0		0.0	False		,,,				2504	0.0					uc002lbw.2		NaN																	0				central_nervous_system(2)	2						c.(1081-1083)TCG>TTG		ARKadia-like 1 isoform a		C	LEU/SER,LEU/SER	8,4100		0,8,2046	154.0	140.0	145.0		896,1079	5.1	0.1	18		145	0,8408		0,0,4204	no	missense,missense	C18orf25	NM_001008239.2,NM_145055.3	145,145	0,8,6250	TT,TC,CC		0.0,0.1947,0.0639	possibly-damaging,possibly-damaging	299/343,360/404	43842948	8,12508	2054	4204	6258	SO:0001583	missense	147339							g.chr18:43842948C>T	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.1079C>T	18.37:g.43842948C>T	ENSP00000282059:p.Ser360Leu					C18orf25_uc002lbx.2_Missense_Mutation_p.S300L	p.S361L	NM_145055	NP_659492	Q96B23	CR025_HUMAN			6	1461	+			360					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	c.1082C>T	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200253	0.79015	0.001947	0.0	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.12	5.12	0.69794	.	0.406807	0.25494	N	0.030300	T	0.41465	0.1160	L	0.34521	1.04	0.53005	D	0.999962	P;P	0.46327	0.792;0.876	B;B	0.33960	0.125;0.173	T	0.51156	-0.8741	9	0.62326	D	0.03	0.6548	18.5575	0.91090	0.0:1.0:0.0:0.0	.	299;360	Q96B23-2;Q96B23	.;CR025_HUMAN	L	360;299	.	ENSP00000282059:S360L	S	+	2	0	C18orf25	42096946	0.955000	0.32602	0.080000	0.20451	0.817000	0.46193	6.163000	0.71880	2.369000	0.80426	0.563000	0.77884	TCG		0.493	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1		NM_145055		19	113	0	0	0	0.005443	0	19	113		
ATP8B1	5205	broad.mit.edu	37	18	55351301	55351301	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:55351301C>G	ENST00000283684.4	-	14	1596	c.1597G>C	c.(1597-1599)Gtt>Ctt	p.V533L	ATP8B1_ENST00000536015.1_Missense_Mutation_p.V533L|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	533					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTGTGGCAAACTGCGAGCAAG	0.448																																						uc002lgw.2		NaN																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(1597-1599)GTT>CTT		ATPase, class I, type 8B, member 1							159.0	131.0	141.0					18																	55351301		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55351301C>G	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1597G>C	18.37:g.55351301C>G	ENSP00000283684:p.Val533Leu					uc002lgv.1_Intron	p.V533L	NM_005603	NP_005594	O43520	AT8B1_HUMAN			14	1597	-		Colorectal(73;0.229)	533			Cytoplasmic (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1597G>C	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.488115	0.01018	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.61627	0.09;0.09	5.81	-3.0	0.05480	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.614056	0.17504	N	0.171887	T	0.18964	0.0455	N	0.01505	-0.83	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35699	-0.9778	10	0.02654	T	1	.	7.5076	0.27553	0.0:0.2445:0.2748:0.4806	.	533	O43520	AT8B1_HUMAN	L	533	ENSP00000283684:V533L;ENSP00000445359:V533L	ENSP00000283684:V533L	V	-	1	0	ATP8B1	53502299	0.002000	0.14202	0.001000	0.08648	0.248000	0.25809	-0.156000	0.10100	-0.461000	0.06993	0.462000	0.41574	GTT		0.448	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1		NM_005603		13	69	0	0	0	0.006122	0	13	69		
ATP8B1	5205	broad.mit.edu	37	18	55351394	55351394	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:55351394C>T	ENST00000283684.4	-	14	1503	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	ATP8B1_ENST00000536015.1_Missense_Mutation_p.D502N|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	502					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AGCTTCCCATCAGCATATGTA	0.348																																						uc002lgw.2		NaN																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(1504-1506)GAT>AAT		ATPase, class I, type 8B, member 1							101.0	91.0	94.0					18																	55351394		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55351394C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1504G>A	18.37:g.55351394C>T	ENSP00000283684:p.Asp502Asn					uc002lgv.1_Intron	p.D502N	NM_005603	NP_005594	O43520	AT8B1_HUMAN			14	1504	-		Colorectal(73;0.229)	502			Cytoplasmic (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1504G>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414365	0.83449	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.61859	0.07;0.07	5.65	5.65	0.86999	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.089689	0.85682	D	0.000000	T	0.70894	0.3276	M	0.62016	1.91	0.80722	D	1	D	0.59767	0.986	P	0.57468	0.821	T	0.73097	-0.4090	10	0.72032	D	0.01	.	18.4907	0.90846	0.0:1.0:0.0:0.0	.	502	O43520	AT8B1_HUMAN	N	502	ENSP00000283684:D502N;ENSP00000445359:D502N	ENSP00000283684:D502N	D	-	1	0	ATP8B1	53502392	1.000000	0.71417	0.998000	0.56505	0.305000	0.27757	7.749000	0.85096	2.666000	0.90696	0.563000	0.77884	GAT		0.348	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1		NM_005603		9	33	0	0	0	0.008291	0	9	33		
MC4R	4160	broad.mit.edu	37	18	58038833	58038833	+	Silent	SNP	C	C	T	rs13447339		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:58038833C>T	ENST00000299766.3	-	1	1168	c.750G>A	c.(748-750)ctG>ctA	p.L250L		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	250					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AGACGCCAATCAGGATGGTCA	0.498																																						uc002lie.1		NaN																	0				lung(1)	1						c.(748-750)CTG>CTA		melanocortin 4 receptor							93.0	83.0	86.0					18																	58038833		2203	4300	6503	SO:0001819	synonymous_variant	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038833C>T	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.750G>A	18.37:g.58038833C>T							p.L250L	NM_005912	NP_005903	P32245	MC4R_HUMAN			1	1169	-		Colorectal(73;0.0946)	250			Helical; Name=6; (Potential).		B2RAC3|Q16317|Q3MIJ6	Silent	SNP	ENST00000299766.3	37	c.750G>A	CCDS11976.1																																																																																				0.498	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1		NM_005912		23	29	0	0	0	0.005443	0	23	29		
ZNF555	148254	broad.mit.edu	37	19	2852858	2852858	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:2852858C>A	ENST00000334241.4	+	4	933	c.795C>A	c.(793-795)ttC>ttA	p.F265L	ZNF555_ENST00000591539.1_Missense_Mutation_p.F264L|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		GGAAAGCTTTCAGTTATTCCT	0.408																																						uc002lwo.2		NaN																	0				ovary(1)	1						c.(793-795)TTC>TTA		zinc finger protein 555							72.0	64.0	66.0					19																	2852858		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2852858C>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.795C>A	19.37:g.2852858C>A	ENSP00000334853:p.Phe265Leu					ZNF555_uc002lwn.3_Missense_Mutation_p.F264L	p.F265L	NM_152791	NP_690004	Q8NEP9	ZN555_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)	4	884	+			265			C2H2-type 4.		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.795C>A	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706194	0.48412	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.46063	0.88	3.06	-0.586	0.11694	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46776	0.1410	L	0.33792	1.035	0.09310	N	0.999999	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.935	T	0.34229	-0.9837	9	0.62326	D	0.03	.	6.3093	0.21156	0.0:0.4951:0.0:0.5049	.	265;264	Q8NEP9;A8KA89	ZN555_HUMAN;.	L	265;264	ENSP00000334853:F265L	ENSP00000334853:F265L	F	+	3	2	ZNF555	2803858	0.001000	0.12720	0.104000	0.21259	0.967000	0.64934	-0.174000	0.09839	-0.129000	0.11620	-0.254000	0.11334	TTC		0.408	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		NM_152791		9	50	1	0	9.70103e-10	0.008291	1.03774e-09	9	50		
PLIN3	10226	broad.mit.edu	37	19	4859922	4859922	+	Missense_Mutation	SNP	C	C	T	rs202240827		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:4859922C>T	ENST00000221957.4	-	3	357	c.181G>A	c.(181-183)Gac>Aac	p.D61N	PLIN3_ENST00000585479.1_Missense_Mutation_p.D61N|PLIN3_ENST00000592528.1_Missense_Mutation_p.D61N	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	61					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TCTGCTGCGTCGCAGACAGTC	0.637													C|||	0	0.0	0.0	0.0	5008	,	,		18539	0.0		0.0	False		,,,				2504	0.0					uc002mbj.2		NaN																	0					0						c.(181-183)GAC>AAC		mannose 6 phosphate receptor binding protein 1	Galsulfase(DB01279)|Idursulfase(DB01271)						72.0	61.0	64.0					19																	4859922		2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4859922C>T	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.181G>A	19.37:g.4859922C>T	ENSP00000221957:p.Asp61Asn					PLIN3_uc002mbk.2_Missense_Mutation_p.D61N|PLIN3_uc002mbl.3_Missense_Mutation_p.D61N	p.D61N	NM_005817	NP_005808	O60664	PLIN3_HUMAN			3	358	-			61					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.181G>A	CCDS12137.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.26	3.074147	0.55646	.	.	ENSG00000105355	ENST00000221957	T	0.05786	3.39	4.76	3.72	0.42706	.	0.128037	0.51477	D	0.000099	T	0.10294	0.0252	L	0.49126	1.545	0.34304	D	0.684731	D;D	0.58970	0.98;0.984	P;P	0.52189	0.565;0.692	T	0.11966	-1.0566	10	0.35671	T	0.21	-8.6555	7.7285	0.28773	0.0:0.7919:0.0:0.2081	.	61;61	O60664-3;O60664	.;PLIN3_HUMAN	N	61	ENSP00000221957:D61N	ENSP00000221957:D61N	D	-	1	0	PLIN3	4810922	0.429000	0.25530	0.435000	0.26784	0.247000	0.25773	1.661000	0.37408	2.166000	0.68216	0.462000	0.41574	GAC		0.637	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1		NM_005817		3	25	0	0	0	0.000602	0	3	25		
GTF2F1	2962	broad.mit.edu	37	19	6392882	6392882	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:6392882G>A	ENST00000394456.5	-	2	509	c.45C>T	c.(43-45)gtC>gtT	p.V15V	GTF2F1_ENST00000429701.2_5'Flank|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	15					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GAACTCGAACGACGTATTCAG	0.587											OREG0025199	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002meq.2		NaN																	0					0						c.(43-45)GTC>GTT		general transcription factor IIF, polypeptide 1,							159.0	161.0	160.0					19																	6392882		2203	4300	6503	SO:0001819	synonymous_variant	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6392882G>A		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.45C>T	19.37:g.6392882G>A			OREG0025199	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	633	GTF2F1_uc010xjc.1_5'Flank	p.V15V	NM_002096	NP_002087	P35269	T2FA_HUMAN			2	330	-			15					B2RCS0|Q9BWN0	Silent	SNP	ENST00000394456.5	37	c.45C>T	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126098	0.37533	.	.	ENSG00000125651	ENST00000542045	.	.	.	5.07	0.464	0.16706	.	.	.	.	.	T	0.57007	0.2024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56535	-0.7963	5	0.72032	D	0.01	-43.167	4.3439	0.11124	0.3552:0.1645:0.4803:0.0	.	.	.	.	L	6	.	ENSP00000442766:S6L	S	-	2	0	GTF2F1	6343882	0.980000	0.34600	0.995000	0.50966	0.795000	0.44927	-0.027000	0.12371	0.323000	0.23307	0.591000	0.81541	TCG		0.587	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1		NM_002096		44	186	0	0	0	0.01441	0	44	186		
ANGPTL4	51129	broad.mit.edu	37	19	8436324	8436324	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:8436324C>G	ENST00000301455.2	+	6	1128	c.957C>G	c.(955-957)ccC>ccG	p.P319P	RAB11B-AS1_ENST00000593581.1_RNA|RAB11B-AS1_ENST00000597785.1_RNA|RAB11B-AS1_ENST00000597407.1_RNA|ANGPTL4_ENST00000541807.1_Silent_p.P152P|ANGPTL4_ENST00000393962.2_Silent_p.P281P	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	319	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CCGTCCCACCCAGCGGCCTCT	0.667																																						uc002mjq.1		NaN																	0				ovary(1)	1						c.(955-957)CCC>CCG		angiopoietin-like 4 protein isoform a precursor							41.0	37.0	38.0					19																	8436324		2203	4300	6503	SO:0001819	synonymous_variant	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8436324C>G	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.957C>G	19.37:g.8436324C>G						ANGPTL4_uc002mjr.1_Silent_p.P281P|ANGPTL4_uc010xkc.1_Silent_p.P152P	p.P319P	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN			6	1152	+			319			Fibrinogen C-terminal.		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Silent	SNP	ENST00000301455.2	37	c.957C>G	CCDS12200.1																																																																																				0.667	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1		NM_139314		5	25	0	0	0	0.001984	0	5	25		
MUC16	94025	broad.mit.edu	37	19	9062870	9062870	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:9062870C>G	ENST00000397910.4	-	3	24779	c.24576G>C	c.(24574-24576)atG>atC	p.M8192I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8194	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGATTCTGTCATTATGCTGG	0.483																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24574-24576)ATG>ATC		mucin 16							124.0	115.0	118.0					19																	9062870		2043	4200	6243	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062870C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24576G>C	19.37:g.9062870C>G	ENSP00000381008:p.Met8192Ile						p.M8192I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24780	-			8194			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24576G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.727	0.135118	0.09032	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	3.13	-6.26	0.02033	.	.	.	.	.	T	0.01558	0.0050	N	0.24115	0.695	.	.	.	B	0.18741	0.03	B	0.17979	0.02	T	0.47355	-0.9124	8	0.87932	D	0	.	4.2602	0.10737	0.2012:0.1753:0.5151:0.1084	.	8192	B5ME49	.	I	8192	ENSP00000381008:M8192I	ENSP00000381008:M8192I	M	-	3	0	MUC16	8923870	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.145000	0.00584	-1.502000	0.01814	-0.751000	0.03497	ATG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		13	31	0	0	0	0.013537	0	13	31		
DNMT1	1786	broad.mit.edu	37	19	10286275	10286275	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:10286275G>C	ENST00000340748.4	-	6	776	c.541C>G	c.(541-543)Cag>Gag	p.Q181E	DNMT1_ENST00000540357.1_Missense_Mutation_p.Q181E|DNMT1_ENST00000359526.4_Missense_Mutation_p.Q197E			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	181	Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GACTCTTCCTGAGGTTTCCGT	0.512																																						uc002mng.2		NaN																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(541-543)CAG>GAG		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						198.0	154.0	169.0					19																	10286275		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10286275G>C	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.541C>G	19.37:g.10286275G>C	ENSP00000345739:p.Gln181Glu					DNMT1_uc010xlc.1_Missense_Mutation_p.Q197E|DNMT1_uc002mnh.2_Missense_Mutation_p.Q76E|DNMT1_uc010xld.1_Missense_Mutation_p.Q181E	p.Q181E	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		6	721	-			181			Nuclear localization signal (Potential).|Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.541C>G	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	g	3.494	-0.103334	0.06967	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.28666	2.4;1.6;1.6	3.81	-2.6	0.06190	.	0.854162	0.10397	N	0.679628	T	0.06917	0.0176	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33752	-0.9856	10	0.09843	T	0.71	.	1.3715	0.02212	0.148:0.2689:0.3583:0.2248	.	181;197;181	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	E	197;181;181;49	ENSP00000352516:Q197E;ENSP00000440457:Q181E;ENSP00000345739:Q181E	ENSP00000345739:Q181E	Q	-	1	0	DNMT1	10147275	0.007000	0.16637	0.001000	0.08648	0.938000	0.57974	0.227000	0.17795	-0.326000	0.08564	0.551000	0.68910	CAG		0.512	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1		NM_001379		23	53	0	0	0	0.007291	0	23	53		
DNMT1	1786	broad.mit.edu	37	19	10287981	10287981	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:10287981G>C	ENST00000340748.4	-	5	743	c.508C>G	c.(508-510)Cat>Gat	p.H170D	DNMT1_ENST00000540357.1_Missense_Mutation_p.H170D|DNMT1_ENST00000359526.4_Missense_Mutation_p.H186D			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	170	Interaction with DNMT3B.|Interaction with PCNA.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTTGCAAAATGAGATGTGATG	0.438																																						uc002mng.2		NaN																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(508-510)CAT>GAT		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						153.0	136.0	141.0					19																	10287981		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10287981G>C	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.508C>G	19.37:g.10287981G>C	ENSP00000345739:p.His170Asp					DNMT1_uc010xlc.1_Missense_Mutation_p.H186D|DNMT1_uc002mnh.2_Missense_Mutation_p.H65D|DNMT1_uc010xld.1_Missense_Mutation_p.H170D|DNMT1_uc010dxb.1_RNA	p.H170D	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		5	688	-			170	H->V: Abolishes interaction with PCNA.		Interaction with PCNA.|Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.508C>G	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	g	10.70	1.423701	0.25639	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.28454	1.96;1.61;1.61	5.26	5.26	0.73747	.	0.315849	0.30076	N	0.010470	T	0.21186	0.0510	N	0.24115	0.695	0.34136	D	0.665859	P;P;P	0.39216	0.664;0.664;0.534	B;B;B	0.34652	0.187;0.187;0.091	T	0.28396	-1.0045	10	0.36615	T	0.2	.	14.7844	0.69790	0.0:0.0:1.0:0.0	.	170;186;170	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	D	186;170;170;38	ENSP00000352516:H186D;ENSP00000440457:H170D;ENSP00000345739:H170D	ENSP00000345739:H170D	H	-	1	0	DNMT1	10148981	1.000000	0.71417	0.973000	0.42090	0.311000	0.27955	2.298000	0.43602	2.630000	0.89119	0.644000	0.83932	CAT		0.438	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1		NM_001379		7	36	0	0	0	0.006214	0	7	36		
NWD1	284434	broad.mit.edu	37	19	16860125	16860125	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:16860125C>G	ENST00000552788.1	+	4	672	c.672C>G	c.(670-672)ctC>ctG	p.L224L	NWD1_ENST00000549814.1_Silent_p.L224L|NWD1_ENST00000523826.1_Silent_p.L18L|NWD1_ENST00000379808.3_Silent_p.L224L|NWD1_ENST00000524140.2_Silent_p.L224L|NWD1_ENST00000339803.6_Silent_p.L89L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	224							ATP binding (GO:0005524)	p.L224L(1)|p.L89L(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAACCTTCTCAGCAGCCTCA	0.587																																						uc002neu.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(3)|ovary(2)|pancreas(2)	7						c.(670-672)CTC>CTG		RecName: Full=NACHT and WD repeat domain-containing protein 1;							76.0	63.0	67.0					19																	16860125		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16860125C>G	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.672C>G	19.37:g.16860125C>G						NWD1_uc002net.3_Silent_p.L89L|NWD1_uc002nev.3_Silent_p.L18L	p.L224L			Q149M9	NWD1_HUMAN			6	1094	+			224					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.672C>G																																																																																					0.587	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1		NM_001007525		12	64	0	0	0	0.013537	0	12	64		
CILP2	148113	broad.mit.edu	37	19	19654990	19654990	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:19654990G>A	ENST00000291495.5	+	8	1721	c.1636G>A	c.(1636-1638)Ggc>Agc	p.G546S	CILP2_ENST00000586018.1_Missense_Mutation_p.G552S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	546						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TCGAGGTGCCGGCGTGTACCA	0.617																																						uc002nmv.3		NaN																	0				ovary(1)	1						c.(1636-1638)GGC>AGC		cartilage intermediate layer protein 2							61.0	65.0	63.0					19																	19654990		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654990G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1636G>A	19.37:g.19654990G>A	ENSP00000291495:p.Gly546Ser					CILP2_uc002nmw.3_Missense_Mutation_p.G552S	p.G546S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1721	+			546					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1636G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	8.410	0.844026	0.16963	.	.	ENSG00000160161	ENST00000291495	T	0.43294	0.95	3.77	2.7	0.31948	Carbohydrate-binding-like fold (1);	0.164380	0.39834	N	0.001252	T	0.25082	0.0609	N	0.24115	0.695	0.26019	N	0.981893	B;B	0.20780	0.048;0.048	B;B	0.12156	0.007;0.007	T	0.13150	-1.0520	10	0.33940	T	0.23	-14.7103	7.5414	0.27740	0.1274:0.0:0.8726:0.0	.	546;546	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	S	546	ENSP00000291495:G546S	ENSP00000291495:G546S	G	+	1	0	CILP2	19515990	1.000000	0.71417	0.284000	0.24805	0.764000	0.43329	3.677000	0.54619	0.555000	0.29079	0.430000	0.28490	GGC		0.617	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3		NM_153221		3	71	0	0	0	0.004672	0	3	71		
ZNF208	7757	broad.mit.edu	37	19	22155282	22155282	+	Missense_Mutation	SNP	T	T	C	rs536562250		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:22155282T>C	ENST00000397126.4	-	4	2702	c.2554A>G	c.(2554-2556)Aag>Gag	p.K852E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	852					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)				TGAATTACCTTATGTTTAGTA	0.373																																						uc002nqp.2		NaN																	0				ovary(5)|skin(2)	7						c.(2254-2256)AAG>GAG		zinc finger protein 208							39.0	42.0	41.0					19																	22155282		2007	4203	6210	SO:0001583	missense	7757							g.chr19:22155282T>C	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.2554A>G	19.37:g.22155282T>C	ENSP00000380315:p.Lys852Glu					ZNF208_uc002nqo.1_Intron	p.K752E	NM_007153	NP_009084					5	2403	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2254A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403420	0.25291	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07567	3.18	2.51	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17662	0.0424	.	.	.	0.22034	N	0.999408	D	0.67145	0.996	P	0.62014	0.897	T	0.12344	-1.0551	8	0.35671	T	0.21	.	8.7226	0.34449	0.0:0.0:0.3314:0.6686	.	752	O43345	ZN208_HUMAN	E	852;752	ENSP00000380315:K852E	ENSP00000380315:K852E	K	-	1	0	ZNF208	21947122	0.000000	0.05858	0.003000	0.11579	0.355000	0.29361	-3.695000	0.00391	-0.120000	0.11809	0.102000	0.15555	AAG		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1		NM_007153		3	83	0	0	0	0.001168	0	3	83		
HAUS5	23354	broad.mit.edu	37	19	36108218	36108218	+	Silent	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:36108218G>T	ENST00000203166.5	+	8	610	c.585G>T	c.(583-585)cgG>cgT	p.R195R	HAUS5_ENST00000379045.2_Silent_p.R195R	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	195					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)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GCACCCTCCGGGCCCAGTTCC	0.632																																						uc002oam.1		NaN																	0					0						c.(583-585)CGG>CGT		HAUS augmin-like complex, subunit 5							67.0	72.0	70.0					19																	36108218		1951	4133	6084	SO:0001819	synonymous_variant	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36108218G>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.585G>T	19.37:g.36108218G>T							p.R195R	NM_015302	NP_056117	O94927	HAUS5_HUMAN			8	636	+			195					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	ENST00000203166.5	37	c.585G>T	CCDS42550.1																																																																																				0.632	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2				35	52	1	0	2.64894e-19	0.01441	3.01628e-19	35	52		
HCST	10870	broad.mit.edu	37	19	36394703	36394703	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:36394703C>G	ENST00000246551.4	+	3	253	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	HCST_ENST00000437550.2_Missense_Mutation_p.L47V|NFKBID_ENST00000352614.2_5'Flank|NFKBID_ENST00000606253.1_5'Flank			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	47					positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of immune response (GO:0050776)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase binding (GO:0043548)|receptor binding (GO:0005102)			lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCCTCTCTCTGCCGCTCCT	0.682																																						uc002ocl.1		NaN																	0					0						c.(139-141)CTG>GTG		hematopoietic cell signal transducer isoform 1							36.0	32.0	33.0					19																	36394703		2203	4300	6503	SO:0001583	missense	10870				regulation of immune response	integral to membrane|plasma membrane		g.chr19:36394703C>G	AF072844	CCDS32998.1, CCDS46057.1	19q13.1	2009-05-07	2003-10-14	2003-10-15	ENSG00000126264	ENSG00000126264			16977	protein-coding gene	gene with protein product	"""DNAX-activation protein 10"", ""kinase assoc pro of ~10kDa"""	604089	"""phosphoinositide-3-kinase adaptor protein"""	PIK3AP		10426994	Standard	NM_014266		Approved	DAP10, DKFZP586C1522, KAP10	uc002ocl.1	Q9UBK5	OTTHUMG00000048132	ENST00000246551.4:c.139C>G	19.37:g.36394703C>G	ENSP00000246551:p.Leu47Val					HCST_uc002ock.1_Missense_Mutation_p.L47V	p.L47V	NM_014266	NP_055081	Q9UBK5	HCST_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	253	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		47			Extracellular (Potential).		Q9UBS1|Q9Y3Y0	Missense_Mutation	SNP	ENST00000246551.4	37	c.139C>G	CCDS32998.1	.	.	.	.	.	.	.	.	.	.	c	18.74	3.688228	0.68271	.	.	ENSG00000126264	ENST00000246551;ENST00000437550	.	.	.	4.55	-0.171	0.13331	.	0.335328	0.18031	N	0.153928	T	0.28863	0.0716	.	.	.	0.09310	N	0.999999	D;P	0.53312	0.959;0.95	P;B	0.45712	0.491;0.358	T	0.17137	-1.0379	8	0.66056	D	0.02	-10.3684	3.6449	0.08181	0.1714:0.5434:0.0:0.2852	.	47;47	Q9UBK5;Q9UBK5-2	HCST_HUMAN;.	V	47	.	ENSP00000246551:L47V	L	+	1	2	HCST	41086543	0.005000	0.15991	0.010000	0.14722	0.676000	0.39594	0.234000	0.17930	-0.066000	0.12998	-0.733000	0.03571	CTG		0.682	HCST-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109520.3		NM_014266		5	32	0	0	0	0.00308	0	5	32		
ZNF567	163081	broad.mit.edu	37	19	37211086	37211086	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:37211086G>C	ENST00000536254.2	+	6	1682	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.R456T|ZNF567_ENST00000588311.1_Missense_Mutation_p.R456T|ZNF567_ENST00000585696.1_Missense_Mutation_p.R456T|ZNF567_ENST00000360729.4_Missense_Mutation_p.R456T			Q8N184	ZN567_HUMAN	zinc finger protein 567	487					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(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGGCCTTTAGAATGAAGTCA	0.418																																						uc010xtl.1		NaN																	0					0						c.(1459-1461)AGA>ACA		zinc finger protein 567							84.0	83.0	83.0					19																	37211086		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211086G>C	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1460G>C	19.37:g.37211086G>C	ENSP00000441838:p.Arg487Thr					ZNF567_uc002oeo.1_Missense_Mutation_p.R487T|ZNF567_uc010xtk.1_Missense_Mutation_p.R487T|ZNF567_uc002oep.3_Missense_Mutation_p.R456T|ZNF567_uc002oeq.1_Missense_Mutation_p.R456T	p.R487T	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1682	+	Esophageal squamous(110;0.198)		487			C2H2-type 10.		B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1460G>C		.	.	.	.	.	.	.	.	.	.	G	12.98	2.100374	0.37048	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.07800	3.16;3.16;3.16	4.88	2.73	0.32206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.150641	0.31279	N	0.007921	T	0.14184	0.0343	L	0.41710	1.295	0.09310	N	0.999995	B;D	0.63046	0.145;0.992	B;D	0.71656	0.032;0.974	T	0.10337	-1.0634	10	0.21014	T	0.42	.	6.8453	0.23984	0.0926:0.3441:0.5633:0.0	.	487;456	Q8N184;F8WEL6	ZN567_HUMAN;.	T	487;431;456;486;456	ENSP00000441838:R487T;ENSP00000353957:R456T;ENSP00000376003:R456T	ENSP00000353957:R456T	R	+	2	0	ZNF567	41902926	0.000000	0.05858	0.999000	0.59377	0.997000	0.91878	-0.750000	0.04808	1.390000	0.46547	0.561000	0.74099	AGA		0.418	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1		NM_152603		22	69	0	0	0	0.005443	0	22	69		
SYMPK	8189	broad.mit.edu	37	19	46345718	46345718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:46345718G>A	ENST00000245934.7	-	9	1121	c.877C>T	c.(877-879)Cag>Tag	p.Q293*		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	293					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTGCTCACCTGCGATTTGGCC	0.562																																						uc002pdn.2		NaN																	0				ovary(1)	1						c.(877-879)CAG>TAG		symplekin							71.0	69.0	69.0					19																	46345718		2203	4300	6503	SO:0001587	stop_gained	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46345718G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.877C>T	19.37:g.46345718G>A	ENSP00000245934:p.Gln293*					SYMPK_uc002pdo.1_Nonsense_Mutation_p.Q293*|SYMPK_uc002pdp.1_Nonsense_Mutation_p.Q293*|SYMPK_uc002pdq.1_Nonsense_Mutation_p.Q293*	p.Q293*	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	9	1122	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	293					O00521|O00689|O00733|Q59GT5|Q8N2U5	Nonsense_Mutation	SNP	ENST00000245934.7	37	c.877C>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	39	7.619682	0.98393	.	.	ENSG00000125755	ENST00000245934	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	293	.	ENSP00000245934:Q293X	Q	-	1	0	SYMPK	51037558	1.000000	0.71417	0.979000	0.43373	0.685000	0.39939	7.654000	0.83653	2.941000	0.99782	0.655000	0.94253	CAG		0.562	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1		NM_004819		15	80	0	0	0	0.010504	0	15	80		
IRF2BP1	26145	broad.mit.edu	37	19	46387865	46387865	+	Missense_Mutation	SNP	C	C	T	rs201096414		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:46387865C>T	ENST00000302165.3	-	1	1511	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCAGCCGCCTCGCCCTCCGGC	0.751													C|||	1	0.000199681	0.0	0.0	5008	,	,		12009	0.001		0.0	False		,,,				2504	0.0					uc002pds.1		NaN																	0					0						c.(1168-1170)GAG>AAG		interferon regulatory factor 2 binding protein							10.0	12.0	11.0					19																	46387865		2148	4195	6343	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46387865C>T	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1168G>A	19.37:g.46387865C>T	ENSP00000307265:p.Glu390Lys						p.E390K	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1512	-		all_neural(266;0.113)|Ovarian(192;0.127)	390					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.1168G>A	CCDS12678.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	14.36	2.510925	0.44660	.	.	ENSG00000170604	ENST00000302165	T	0.47177	0.85	4.96	4.96	0.65561	.	0.350361	0.19744	N	0.107054	T	0.20129	0.0484	L	0.29908	0.895	0.35287	D	0.781864	B	0.33238	0.403	B	0.19391	0.025	T	0.20605	-1.0270	10	0.08837	T	0.75	.	9.171	0.37081	0.0:0.904:0.0:0.096	.	390	Q8IU81	I2BP1_HUMAN	K	390	ENSP00000307265:E390K	ENSP00000307265:E390K	E	-	1	0	IRF2BP1	51079705	0.011000	0.17503	0.996000	0.52242	0.400000	0.30750	1.677000	0.37576	2.556000	0.86216	0.655000	0.94253	GAG		0.751	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1		NM_015649		9	20	0	0	0	0.006214	0	9	20		
NR1H2	7376	broad.mit.edu	37	19	50881884	50881884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:50881884C>A	ENST00000253727.5	+	6	813	c.578C>A	c.(577-579)tCa>tAa	p.S193*	NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Nonsense_Mutation_p.S96*|NR1H2_ENST00000598168.1_Nonsense_Mutation_p.S193*|NR1H2_ENST00000593926.1_Nonsense_Mutation_p.S193*|NR1H2_ENST00000599105.1_Nonsense_Mutation_p.S193*	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	193	Poly-Ser.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGCAGCAGCTCAGCCTCTGGG	0.607																																						uc010enw.2		NaN																	0					0						c.(580-582)TCA>TAA		nuclear receptor subfamily 1, group H, member 2							32.0	41.0	38.0					19																	50881884		2147	4260	6407	SO:0001587	stop_gained	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881884C>A	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.578C>A	19.37:g.50881884C>A	ENSP00000253727:p.Ser193*					NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Nonsense_Mutation_p.S193*|NR1H2_uc002psa.3_Nonsense_Mutation_p.S96*	p.S194*	NM_007121	NP_009052	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	7	857	+		all_neural(266;0.057)	193			Poly-Ser.		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Nonsense_Mutation	SNP	ENST00000253727.5	37	c.581C>A	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	C	38	6.788978	0.97841	.	.	ENSG00000131408	ENST00000253727;ENST00000411902;ENST00000376942	.	.	.	4.41	-2.49	0.06403	.	1.430320	0.04612	N	0.400448	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	4.3468	0.11136	0.5158:0.2832:0.1215:0.0794	.	.	.	.	X	193;96;193	.	ENSP00000253727:S193X	S	+	2	0	NR1H2	55573696	0.004000	0.15560	0.000000	0.03702	0.709000	0.40893	1.681000	0.37618	-0.382000	0.07870	0.561000	0.74099	TCA		0.607	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2				16	17	1	0	7.05477e-17	0.00499	7.86411e-17	16	17		
ZNF547	284306	broad.mit.edu	37	19	57888951	57888951	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:57888951C>G	ENST00000282282.3	+	4	757	c.607C>G	c.(607-609)Cag>Gag	p.Q203E	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	203					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(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAATAGACATCAGAGAACTCA	0.418																																						uc002qol.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(607-609)CAG>GAG		zinc finger protein 547							87.0	82.0	84.0					19																	57888951		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57888951C>G	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.607C>G	19.37:g.57888951C>G	ENSP00000282282:p.Gln203Glu					ZNF547_uc002qpm.3_Missense_Mutation_p.Q129E|ZNF547_uc010ygx.1_Missense_Mutation_p.Q203E	p.Q203E	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	800	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	203			C2H2-type 3.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.607C>G	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675493	0.29783	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.17854	2.25	1.87	-0.46	0.12175	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16981	0.0408	N	0.17345	0.48	0.09310	N	1	D;B;P	0.54397	0.966;0.138;0.945	B;B;P	0.58210	0.352;0.053;0.835	T	0.17379	-1.0371	9	0.62326	D	0.03	.	5.7146	0.17952	0.0:0.6496:0.217:0.1335	.	203;203;203	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	E	203	ENSP00000282282:Q203E	ENSP00000282282:Q203E	Q	+	1	0	ZNF547	62580763	0.000000	0.05858	0.004000	0.12327	0.729000	0.41735	-0.671000	0.05250	-0.032000	0.13758	0.491000	0.48974	CAG		0.418	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1		NM_173631		28	39	0	0	0	0.003271	0	28	39		
ZNF549	256051	broad.mit.edu	37	19	58048854	58048854	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:58048854G>A	ENST00000376233.3	+	4	663	c.482G>A	c.(481-483)aGa>aAa	p.R161K	ZNF549_ENST00000240719.3_Missense_Mutation_p.R148K|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACACATCAGAAAGGAGGAG	0.453																																						uc002qpb.1		NaN																	0				ovary(1)	1						c.(481-483)AGA>AAA		zinc finger protein 549							73.0	68.0	69.0					19																	58048854		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58048854G>A	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.482G>A	19.37:g.58048854G>A	ENSP00000365407:p.Arg161Lys					ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.R148K	p.R161K	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	731	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	161					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.482G>A	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	8.967	0.971990	0.18736	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.05786	3.41;3.39	2.76	-4.17	0.03857	.	.	.	.	.	T	0.01387	0.0045	N	0.02751	-0.505	0.09310	N	1	B;B	0.33694	0.421;0.041	B;B	0.21917	0.037;0.013	T	0.40979	-0.9534	9	0.02654	T	1	.	1.8922	0.03250	0.1259:0.1378:0.2119:0.5244	.	161;148	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	K	148;161	ENSP00000240719:R148K;ENSP00000365407:R161K	ENSP00000240719:R148K	R	+	2	0	ZNF549	62740666	0.003000	0.15002	0.001000	0.08648	0.085000	0.17905	-0.283000	0.08433	-0.437000	0.07243	0.655000	0.94253	AGA		0.453	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1		NM_153263		22	50	0	0	0	0.00278	0	22	50		
ZNF587	84914	broad.mit.edu	37	19	58367529	58367529	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:58367529C>T	ENST00000339656.5	+	2	273	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ZNF814_ENST00000597342.1_Intron|ZNF587B_ENST00000316462.4_3'UTR|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597652.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.L30F|ZNF814_ENST00000596604.1_Intron|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.L31F|ZNF587_ENST00000419854.1_5'UTR	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GGAGTGGTGTCTTCTTAGTGA	0.512																																					Pancreas(59;641 1233 1885 20055 50741)	uc002qql.2		NaN																	0					0						c.(91-93)CTT>TTT		zinc finger protein 587							137.0	114.0	122.0					19																	58367529		2202	4281	6483	SO:0001583	missense	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58367529C>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.91C>T	19.37:g.58367529C>T	ENSP00000345479:p.Leu31Phe					ZNF587_uc002qqb.2_5'UTR|ZNF587_uc010yhh.1_5'UTR|ZNF587_uc002qqi.1_5'UTR|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Missense_Mutation_p.L30F	p.L31F	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	2	229	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	31			KRAB.		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	c.91C>T	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	12.99	2.103300	0.37145	.	.	ENSG00000198466	ENST00000423137;ENST00000339656;ENST00000540851	T;T	0.02177	4.41;4.41	2.26	2.26	0.28386	Krueppel-associated box (4);	.	.	.	.	T	0.09862	0.0242	M	0.81239	2.535	0.26207	N	0.979359	D;P	0.89917	1.0;0.954	D;P	0.83275	0.996;0.486	T	0.05305	-1.0893	8	0.52906	T	0.07	.	5.4445	0.16527	0.0:0.8162:0.0:0.1838	.	30;31	G3V0H5;Q96SQ5	.;ZN587_HUMAN	F	30;31;31	ENSP00000393865:L30F;ENSP00000345479:L31F	ENSP00000345479:L31F	L	+	1	0	ZNF587	63059341	0.002000	0.14202	0.002000	0.10522	0.094000	0.18550	0.848000	0.27710	1.171000	0.42768	0.205000	0.17691	CTT		0.512	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2		NM_032828		17	67	0	0	0	0.007291	0	17	67		
MYT1L	23040	broad.mit.edu	37	2	1914104	1914104	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:1914104C>G	ENST00000399161.2	-	13	2472	c.1725G>C	c.(1723-1725)ccG>ccC	p.P575P	MYT1L_ENST00000428368.2_Silent_p.P573P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	575					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGCAGCGATCGGGCATCCGG	0.587																																						uc002qxe.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(1723-1725)CCG>CCC		myelin transcription factor 1-like							55.0	63.0	60.0					2																	1914104		2054	4200	6254	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1914104C>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1725G>C	2.37:g.1914104C>G						MYT1L_uc002qxd.2_Silent_p.P573P|MYT1L_uc010ewl.1_RNA	p.P575P	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	13	2552	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	575			C2HC-type 3.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1725G>C																																																																																					0.587	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		22	51	0	0	0	0.00333	0	22	51		
TAF1B	9014	broad.mit.edu	37	2	10008450	10008450	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:10008450G>A	ENST00000263663.5	+	6	633	c.445G>A	c.(445-447)Gag>Aag	p.E149K	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	149	N-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGTGAGCCTGAGCTGCTAAG	0.398																																						uc002qzz.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(445-447)GAG>AAG		TBP-associated factor 1B							100.0	86.0	91.0					2																	10008450		2203	4300	6503	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10008450G>A	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.445G>A	2.37:g.10008450G>A	ENSP00000263663:p.Glu149Lys					TAF1B_uc010exc.2_Missense_Mutation_p.E149K|TAF1B_uc002qzy.3_Missense_Mutation_p.E149K|TAF1B_uc010yja.1_5'UTR|TAF1B_uc010exd.2_5'UTR	p.E149K	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN			6	545	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		149					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.445G>A	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814192	0.70912	.	.	ENSG00000115750	ENST00000263663;ENST00000402170	T	0.13420	2.59	5.55	5.55	0.83447	.	0.550470	0.21072	N	0.080659	T	0.17534	0.0421	L	0.58101	1.795	0.80722	D	1	P;P;P	0.42871	0.455;0.792;0.675	B;B;B	0.40329	0.135;0.326;0.23	T	0.00809	-1.1557	9	.	.	.	-18.838	14.8729	0.70471	0.0:0.0:1.0:0.0	.	149;149;149	B5MD29;Q53T94;Q53T94-2	.;TAF1B_HUMAN;.	K	149	ENSP00000263663:E149K	.	E	+	1	0	TAF1B	9925901	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	4.491000	0.60326	2.885000	0.99019	0.655000	0.94253	GAG		0.398	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2		NM_005680		19	48	0	0	0	0.005443	0	19	48		
GREB1	9687	broad.mit.edu	37	2	11728988	11728988	+	Missense_Mutation	SNP	G	G	A	rs370262420		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:11728988G>A	ENST00000381486.2	+	10	1576	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	GREB1_ENST00000381483.2_Missense_Mutation_p.A426T|GREB1_ENST00000234142.5_Missense_Mutation_p.A426T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	426						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCAGTACGGCGCCTCTGCCAT	0.597																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NaN																	0				ovary(1)	1						c.(1276-1278)GCC>ACC		growth regulation by estrogen in breast cancer 1							163.0	128.0	140.0					2																	11728988		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11728988G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1276G>A	2.37:g.11728988G>A	ENSP00000370896:p.Ala426Thr					GREB1_uc002rbn.1_Missense_Mutation_p.A426T|GREB1_uc002rbo.1_Missense_Mutation_p.A60T	p.A426T	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	10	1576	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		426					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.1276G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	8.189	0.795636	0.16327	.	.	ENSG00000196208	ENST00000381486;ENST00000381483;ENST00000234142;ENST00000432985	T;T;T;T	0.42900	3.28;2.25;3.28;0.96	4.95	3.11	0.35812	.	0.149763	0.46145	D	0.000306	T	0.27489	0.0675	L	0.50333	1.59	0.42398	D	0.992558	B;B;B	0.33494	0.414;0.025;0.002	B;B;B	0.18263	0.021;0.007;0.002	T	0.06625	-1.0816	10	0.25106	T	0.35	-15.789	5.5023	0.16834	0.0759:0.1404:0.6382:0.1454	.	60;426;426	C9JIG0;Q4ZG55-2;Q4ZG55	.;.;GREB1_HUMAN	T	426;426;426;60	ENSP00000370896:A426T;ENSP00000370892:A426T;ENSP00000234142:A426T;ENSP00000403886:A60T	ENSP00000234142:A426T	A	+	1	0	GREB1	11646439	0.685000	0.27652	0.729000	0.30791	0.351000	0.29236	1.136000	0.31467	0.465000	0.27167	-0.143000	0.13931	GCC		0.597	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668		57	111	0	0	0	0.01441	0	57	111		
KIF3C	3797	broad.mit.edu	37	2	26204353	26204353	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:26204353T>C	ENST00000264712.3	-	1	1013	c.434A>G	c.(433-435)tAt>tGt	p.Y145C	KIF3C_ENST00000405914.1_Missense_Mutation_p.Y145C	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	145	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCTCCAAATAGGAGGCCCG	0.582																																						uc002rgu.2		NaN																	0				ovary(3)|skin(1)	4						c.(433-435)TAT>TGT		kinesin family member 3C							69.0	72.0	71.0					2																	26204353		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26204353T>C		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.434A>G	2.37:g.26204353T>C	ENSP00000264712:p.Tyr145Cys					KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.Y145C	p.Y145C	NM_002254	NP_002245	O14782	KIF3C_HUMAN			1	1091	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		145			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.434A>G	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.335647	0.60853	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	T;T	0.78595	-1.19;-1.19	5.62	5.62	0.85841	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.89746	0.6804	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91699	0.5372	10	0.87932	D	0	.	13.7774	0.63062	0.0:0.0:0.0:1.0	.	145;145	B7ZM25;O14782	.;KIF3C_HUMAN	C	145	ENSP00000264712:Y145C;ENSP00000385030:Y145C	ENSP00000264712:Y145C	Y	-	2	0	KIF3C	26057857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.131000	0.65755	0.460000	0.39030	TAT		0.582	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1				31	71	0	0	0	0.004289	0	31	71		
KIF3C	3797	broad.mit.edu	37	2	26204403	26204403	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:26204403G>T	ENST00000264712.3	-	1	963	c.384C>A	c.(382-384)ttC>ttA	p.F128L	KIF3C_ENST00000405914.1_Missense_Mutation_p.F128L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	128	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATGTGGGTGAAGATGTGCT	0.602																																						uc002rgu.2		NaN																	0				ovary(3)|skin(1)	4						c.(382-384)TTC>TTA		kinesin family member 3C							87.0	82.0	84.0					2																	26204403		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26204403G>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.384C>A	2.37:g.26204403G>T	ENSP00000264712:p.Phe128Leu					KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.F128L	p.F128L	NM_002254	NP_002245	O14782	KIF3C_HUMAN			1	1041	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		128			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.384C>A	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670777	0.67814	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	D;D	0.83591	-1.74;-1.74	5.62	5.62	0.85841	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.91486	0.7312	M	0.83852	2.665	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.71414	0.943;0.973	D	0.92189	0.5758	10	0.66056	D	0.02	.	17.1582	0.86797	0.0:0.0:1.0:0.0	.	128;128	B7ZM25;O14782	.;KIF3C_HUMAN	L	128	ENSP00000264712:F128L;ENSP00000385030:F128L	ENSP00000264712:F128L	F	-	3	2	KIF3C	26057907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.633000	0.67825	2.637000	0.89404	0.563000	0.77884	TTC		0.602	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1				44	91	1	0	4.75821e-42	0.01441	5.58157e-42	44	91		
NLRC4	58484	broad.mit.edu	37	2	32461380	32461380	+	Silent	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:32461380C>A	ENST00000404025.2	-	8	3038	c.2550G>T	c.(2548-2550)ctG>ctT	p.L850L	NLRC4_ENST00000360906.5_Silent_p.L850L|NLRC4_ENST00000402280.1_Silent_p.L850L|NLRC4_ENST00000342905.6_Silent_p.L185L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	850					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CAAGAATGCTCAGTTTGACCA	0.303																																						uc002roi.2		NaN																	0				ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(2548-2550)CTG>CTT		caspase recruitment domain protein 12							103.0	98.0	100.0					2																	32461380		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32461380C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2550G>T	2.37:g.32461380C>A						NLRC4_uc002roj.1_Silent_p.L850L|NLRC4_uc010ezt.1_Silent_p.L185L	p.L850L	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			7	2796	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		850			LRR 9.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.2550G>T	CCDS33174.1																																																																																				0.303	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2		NM_021209		20	40	1	0	7.87624e-14	0.00278	8.5829e-14	20	40		
PLEKHH2	130271	broad.mit.edu	37	2	43919692	43919692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:43919692C>T	ENST00000282406.4	+	4	336	c.226C>T	c.(226-228)Caa>Taa	p.Q76*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	76					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCTAATATTCAAACCAGTGA	0.308																																						uc010yny.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(226-228)CAA>TAA		pleckstrin homology domain containing, family H							66.0	73.0	70.0					2																	43919692		2203	4299	6502	SO:0001587	stop_gained	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43919692C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.226C>T	2.37:g.43919692C>T	ENSP00000282406:p.Gln76*					PLEKHH2_uc002rte.3_Nonsense_Mutation_p.Q76*|PLEKHH2_uc002rtf.3_Nonsense_Mutation_p.Q76*	p.Q76*	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			4	309	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	76			Potential.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Nonsense_Mutation	SNP	ENST00000282406.4	37	c.226C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	38	6.955289	0.97960	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.58	5.58	0.84498	.	0.062472	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-17.0198	19.5609	0.95371	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000282406:Q76X	Q	+	1	0	PLEKHH2	43773196	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.146000	0.77373	2.626000	0.88956	0.563000	0.77884	CAA		0.308	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		18	109	0	0	0	0.012319	0	18	109		
SRBD1	55133	broad.mit.edu	37	2	45801777	45801777	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:45801777G>A	ENST00000263736.4	-	8	1220	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	386					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGTTCCGAATGAAGTCAAGCG	0.388																																						uc002rus.2		NaN																	0				central_nervous_system(1)	1						c.(1156-1158)TTC>TTT		S1 RNA binding domain 1							129.0	124.0	125.0					2																	45801777		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45801777G>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1158C>T	2.37:g.45801777G>A							p.F386F	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		8	1234	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	386					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.1158C>T	CCDS1823.1																																																																																				0.388	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3		NM_018079		40	82	0	0	0	0.01441	0	40	82		
PSME4	23198	broad.mit.edu	37	2	54122166	54122166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:54122166C>T	ENST00000404125.1	-	34	3945	c.3890G>A	c.(3889-3891)aGa>aAa	p.R1297K	PSME4_ENST00000421748.2_Missense_Mutation_p.R441K	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTCCCTGCTTCTGCCAAGCTT	0.388																																						uc002rxp.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(3889-3891)AGA>AAA		proteasome (prosome, macropain) activator							204.0	176.0	185.0					2																	54122166		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54122166C>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3890G>A	2.37:g.54122166C>T	ENSP00000384211:p.Arg1297Lys					PSME4_uc010yop.1_Missense_Mutation_p.R1183K|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.R672K|PSME4_uc010fbv.1_Missense_Mutation_p.R441K	p.R1297K	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		34	3946	-			1297					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.3890G>A	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324097	0.60634	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.24723	1.84;1.87	5.63	4.75	0.60458	Armadillo-type fold (1);	0.053350	0.85682	D	0.000000	T	0.21921	0.0528	L	0.59436	1.845	0.35276	D	0.78088	B;P;B	0.38078	0.447;0.617;0.319	B;B;B	0.33960	0.097;0.173;0.045	T	0.18147	-1.0346	10	0.05721	T	0.95	.	14.8925	0.70620	0.0:0.9312:0.0:0.0688	.	672;441;1297	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	K	441;1297	ENSP00000410830:R441K;ENSP00000384211:R1297K	ENSP00000384211:R1297K	R	-	2	0	PSME4	53975670	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.823000	0.55715	1.538000	0.49270	-0.142000	0.14014	AGA		0.388	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1		XM_040158		45	127	0	0	0	0.01441	0	45	127		
CCDC88A	55704	broad.mit.edu	37	2	55615938	55615938	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:55615938C>T	ENST00000436346.1	-	3	1090	c.249G>A	c.(247-249)gtG>gtA	p.V83V	CCDC88A_ENST00000413716.2_Silent_p.V83V|CCDC88A_ENST00000336838.6_Silent_p.V83V|CCDC88A_ENST00000263630.8_Silent_p.V83V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	83					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTATCTGTCTCACCAAAATGG	0.294																																						uc002ryv.2		NaN																	0				ovary(2)|skin(2)	4						c.(247-249)GTG>GTA		coiled-coil domain containing 88A isoform 1							65.0	70.0	69.0					2																	55615938		2200	4276	6476	SO:0001819	synonymous_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55615938C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.249G>A	2.37:g.55615938C>T						CCDC88A_uc010yoz.1_Silent_p.V83V|CCDC88A_uc010ypa.1_Silent_p.V83V	p.V83V	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			3	1091	-			83					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	37	c.249G>A																																																																																					0.294	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding			NM_017571		30	70	0	0	0	0.003271	0	30	70		
UGP2	7360	broad.mit.edu	37	2	64083559	64083559	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:64083559G>C	ENST00000337130.5	+	2	615	c.139G>C	c.(139-141)Gaa>Caa	p.E47Q	UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Missense_Mutation_p.E56Q|UGP2_ENST00000467648.2_Missense_Mutation_p.E36Q|UGP2_ENST00000394417.2_Missense_Mutation_p.E36Q	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	47					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ATCATCACATGAATTTGAGGT	0.458																																						uc002scm.2		NaN																	0					0						c.(139-141)GAA>CAA		UDP-glucose pyrophosphorylase 2 isoform a							159.0	162.0	161.0					2																	64083559		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64083559G>C		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.139G>C	2.37:g.64083559G>C	ENSP00000338703:p.Glu47Gln					UGP2_uc002scl.2_Missense_Mutation_p.E36Q|UGP2_uc010ypx.1_Missense_Mutation_p.E56Q	p.E47Q	NM_006759	NP_006750	Q16851	UGPA_HUMAN			2	445	+			47					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.139G>C	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132404	0.56828	.	.	ENSG00000169764	ENST00000394417;ENST00000484142;ENST00000482668;ENST00000467648;ENST00000480679;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T;T	0.45276	2.29;2.29;0.9;2.29;2.29	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.32436	0.0829	L	0.27053	0.805	0.80722	D	1	B;B	0.18310	0.027;0.005	B;B	0.17433	0.018;0.011	T	0.14254	-1.0479	10	0.09843	T	0.71	-7.1808	19.4349	0.94788	0.0:0.0:1.0:0.0	.	56;47	E7EUC7;Q16851	.;UGPA_HUMAN	Q	36;47;36;36;36;47;36;39;56;36;36;36	ENSP00000377939:E36Q;ENSP00000420793:E36Q;ENSP00000338703:E47Q;ENSP00000411803:E56Q;ENSP00000420342:E36Q	ENSP00000338703:E47Q	E	+	1	0	UGP2	63937063	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.514000	0.60482	2.894000	0.99253	0.655000	0.94253	GAA		0.458	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1		NM_006759		34	217	0	0	0	0.013114	0	34	217		
MEIS1	4211	broad.mit.edu	37	2	66795861	66795861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:66795861C>T	ENST00000272369.9	+	11	1544	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*	MEIS1_ENST00000444274.2_3'UTR|MEIS1_ENST00000495021.2_Nonsense_Mutation_p.Q298*|MEIS1_ENST00000407092.2_Nonsense_Mutation_p.Q363*|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000398506.2_Nonsense_Mutation_p.Q361*|MEIS1_ENST00000488550.1_Nonsense_Mutation_p.Q363*	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	363	Required for transcriptional activation. {ECO:0000250}.				angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AATGGACGGTCAGCAACATAT	0.408																																						uc002sdu.2		NaN																	0					0						c.(1087-1089)CAG>TAG		Meis homeobox 1							288.0	283.0	285.0					2																	66795861		1908	4119	6027	SO:0001587	stop_gained	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66795861C>T		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.1087C>T	2.37:g.66795861C>T	ENSP00000272369:p.Gln363*					MEIS1_uc002sdt.2_Nonsense_Mutation_p.Q363*|MEIS1_uc002sdv.2_Nonsense_Mutation_p.Q361*|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Nonsense_Mutation_p.Q298*|MEIS1_uc002sdw.1_Nonsense_Mutation_p.Q219*	p.Q363*	NM_002398	NP_002389	O00470	MEIS1_HUMAN			11	1544	+			363			Required for transcriptional activation (By similarity).		A8MV50	Nonsense_Mutation	SNP	ENST00000272369.9	37	c.1087C>T	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223243	0.79464	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000495021;ENST00000402908;ENST00000409517;ENST00000450027	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7842	0.96430	0.0:1.0:0.0:0.0	.	.	.	.	X	363;363;361;298;219;113;175	.	ENSP00000272369:Q363X	Q	+	1	0	MEIS1	66649365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	CAG		0.408	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4		NM_002398		98	255	0	0	0	0.01441	0	98	255		
ASPRV1	151516	broad.mit.edu	37	2	70188237	70188237	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:70188237C>T	ENST00000320256.4	-	1	1160	c.584G>A	c.(583-585)gGc>gAc	p.G195D	PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GAGATAGTAGCCCTTACCCAT	0.602																																						uc002sfz.3		NaN																	0				ovary(1)	1						c.(583-585)GGC>GAC		aspartic peptidase, retroviral-like 1 precursor							76.0	79.0	78.0					2																	70188237		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188237C>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.584G>A	2.37:g.70188237C>T	ENSP00000315383:p.Gly195Asp						p.G195D	NM_152792	NP_690005	Q53RT3	APRV1_HUMAN			1	1161	-			195			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000320256.4	37	c.584G>A	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107712	0.77096	.	.	ENSG00000244617	ENST00000320256	T	0.54071	0.59	5.35	5.35	0.76521	Peptidase aspartic (1);	0.129424	0.33235	N	0.005126	T	0.61451	0.2348	L	0.29908	0.895	0.40905	D	0.984185	D	0.89917	1.0	D	0.87578	0.998	T	0.64364	-0.6425	10	0.56958	D	0.05	-22.397	14.5688	0.68197	0.0:1.0:0.0:0.0	.	195	Q53RT3	APRV1_HUMAN	D	195	ENSP00000315383:G195D	ENSP00000315383:G195D	G	-	2	0	ASPRV1	70041741	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.029000	0.57253	2.497000	0.84241	0.561000	0.74099	GGC		0.602	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1		NM_152792		26	48	0	0	0	0.003755	0	26	48		
ASPRV1	151516	broad.mit.edu	37	2	70188460	70188460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:70188460C>G	ENST00000320256.4	-	1	937	c.361G>C	c.(361-363)Gaa>Caa	p.E121Q	PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TTGATGACTTCAAAGCTGTGC	0.562																																						uc002sfz.3		NaN																	0				ovary(1)	1						c.(361-363)GAA>CAA		aspartic peptidase, retroviral-like 1 precursor							55.0	52.0	53.0					2																	70188460		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188460C>G	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.361G>C	2.37:g.70188460C>G	ENSP00000315383:p.Glu121Gln						p.E121Q	NM_152792	NP_690005	Q53RT3	APRV1_HUMAN			1	938	-			121			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000320256.4	37	c.361G>C	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623502	0.46840	.	.	ENSG00000244617	ENST00000320256	T	0.52526	0.66	5.99	5.11	0.69529	.	0.316289	0.21486	N	0.073743	T	0.46737	0.1408	L	0.29908	0.895	0.30292	N	0.790317	D	0.58620	0.983	P	0.53401	0.725	T	0.47433	-0.9118	10	0.51188	T	0.08	-21.1292	11.5179	0.50534	0.0:0.9163:0.0:0.0837	.	121	Q53RT3	APRV1_HUMAN	Q	121	ENSP00000315383:E121Q	ENSP00000315383:E121Q	E	-	1	0	ASPRV1	70041964	0.969000	0.33509	0.982000	0.44146	0.137000	0.21094	2.340000	0.43974	2.840000	0.97914	0.655000	0.94253	GAA		0.562	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1		NM_152792		13	54	0	0	0	0.003163	0	13	54		
ASPRV1	151516	broad.mit.edu	37	2	70188511	70188511	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:70188511C>G	ENST00000320256.4	-	1	886	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TCAAAAGGTTCCGGGACGAAG	0.582																																						uc002sfz.3		NaN																	0				ovary(1)	1						c.(310-312)GAA>CAA		aspartic peptidase, retroviral-like 1 precursor							56.0	52.0	53.0					2																	70188511		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188511C>G	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.310G>C	2.37:g.70188511C>G	ENSP00000315383:p.Glu104Gln						p.E104Q	NM_152792	NP_690005	Q53RT3	APRV1_HUMAN			1	887	-			104			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000320256.4	37	c.310G>C	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961835	0.34659	.	.	ENSG00000244617	ENST00000320256	T	0.56941	0.43	5.72	5.72	0.89469	.	0.456641	0.17764	N	0.162790	T	0.53465	0.1798	L	0.29908	0.895	0.33753	D	0.620839	D	0.58268	0.982	P	0.52672	0.706	T	0.61667	-0.7016	10	0.39692	T	0.17	-13.4922	15.3969	0.74801	0.0:1.0:0.0:0.0	.	104	Q53RT3	APRV1_HUMAN	Q	104	ENSP00000315383:E104Q	ENSP00000315383:E104Q	E	-	1	0	ASPRV1	70042015	0.554000	0.26522	0.882000	0.34594	0.011000	0.07611	2.352000	0.44080	2.691000	0.91804	0.655000	0.94253	GAA		0.582	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1		NM_152792		22	66	0	0	0	0.003954	0	22	66		
ATP6V1B1	525	broad.mit.edu	37	2	71188791	71188791	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:71188791C>T	ENST00000234396.4	+	8	826	c.753C>T	c.(751-753)gtC>gtT	p.V251V	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.V251V	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	251					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TGGGGAACGTCTGCCTCTTCC	0.567																																						uc002shj.2		NaN																	0				skin(1)	1						c.(751-753)GTC>GTT		ATPase, H+ transporting, lysosomal 56/58kDa, V1							187.0	159.0	169.0					2																	71188791		2203	4300	6503	SO:0001819	synonymous_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71188791C>T	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.753C>T	2.37:g.71188791C>T						ATP6V1B1_uc002shi.1_Silent_p.V251V|ATP6V1B1_uc010fdv.2_Silent_p.V251V|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Silent_p.V209V	p.V251V	NM_001692	NP_001683	P15313	VATB1_HUMAN			8	840	+			251					Q53FY0|Q6P4H6	Silent	SNP	ENST00000234396.4	37	c.753C>T	CCDS1912.1																																																																																				0.567	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2		NM_001692		32	64	0	0	0	0.007835	0	32	64		
CAPG	822	broad.mit.edu	37	2	85622017	85622017	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:85622017C>T	ENST00000409921.1	-	10	1067	c.1001G>A	c.(1000-1002)tGa>tAa	p.*334*	CAPG_ENST00000409724.1_Silent_p.*349*|CAPG_ENST00000409670.1_Silent_p.*349*|CAPG_ENST00000263867.4_Silent_p.*349*|CAPG_ENST00000483659.1_5'Flank			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CGCCCACCCTCATTTCCAGTC	0.592																																						uc002spl.1		NaN																	0					0						c.(1045-1047)TGA>TAA		gelsolin-like capping protein							67.0	64.0	65.0					2																	85622017		2203	4300	6503	SO:0001819	synonymous_variant	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85622017C>T	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.1001G>A	2.37:g.85622017C>T						CAPG_uc002spm.1_Silent_p.*334*|CAPG_uc010ysq.1_Silent_p.*349*|CAPG_uc010fgi.1_Silent_p.*349*	p.*349*	NM_001747	NP_001738	P40121	CAPG_HUMAN			10	1296	-			349					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000409921.1	37	c.1046G>A	CCDS58715.1																																																																																				0.592	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1		NM_001747		17	48	0	0	0	0.012319	0	17	48		
CAPG	822	broad.mit.edu	37	2	85622055	85622055	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:85622055C>A	ENST00000409921.1	-	10	1029	c.963G>T	c.(961-963)gaG>gaT	p.E321D	CAPG_ENST00000409724.1_Missense_Mutation_p.E336D|CAPG_ENST00000409670.1_Missense_Mutation_p.E336D|CAPG_ENST00000263867.4_Missense_Mutation_p.E336D|CAPG_ENST00000483659.1_5'Flank			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGATGGGACTCTCATGGCCCT	0.597																																						uc002spl.1		NaN																	0					0						c.(1006-1008)GAG>GAT		gelsolin-like capping protein							58.0	56.0	57.0					2																	85622055		2203	4300	6503	SO:0001583	missense	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85622055C>A	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.963G>T	2.37:g.85622055C>A	ENSP00000387063:p.Glu321Asp					CAPG_uc002spm.1_Missense_Mutation_p.E321D|CAPG_uc010ysq.1_Missense_Mutation_p.E336D|CAPG_uc010fgi.1_Missense_Mutation_p.E336D	p.E336D	NM_001747	NP_001738	P40121	CAPG_HUMAN			10	1258	-			336					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000409921.1	37	c.1008G>T	CCDS58715.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181935	0.78677	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000453973;ENST00000409921;ENST00000409670;ENST00000409724	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.69	4.82	0.62117	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.87152	0.6106	H	0.94264	3.515	0.48452	D	0.999653	D;D	0.76494	0.99;0.999	D;D	0.85130	0.989;0.997	D	0.89298	0.3624	10	0.87932	D	0	.	10.5871	0.45288	0.0:0.9117:0.0:0.0883	.	321;336	B8ZZS7;P40121	.;CAPG_HUMAN	D	315;336;91;321;336;336	ENSP00000263867:E336D;ENSP00000397381:E91D;ENSP00000387063:E321D;ENSP00000386315:E336D;ENSP00000386965:E336D	ENSP00000263867:E336D	E	-	3	2	CAPG	85475566	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.189000	0.32114	1.424000	0.47217	0.655000	0.94253	GAG		0.597	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1		NM_001747		14	46	1	0	0.000132079	0.008871	0.000136528	14	46		
CAPG	822	broad.mit.edu	37	2	85625194	85625194	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:85625194C>T	ENST00000409921.1	-	8	862	c.796G>A	c.(796-798)Gac>Aac	p.D266N	CAPG_ENST00000409724.1_Missense_Mutation_p.D281N|CAPG_ENST00000409670.1_Missense_Mutation_p.D281N|CAPG_ENST00000263867.4_Missense_Mutation_p.D281N|CAPG_ENST00000483659.1_5'UTR			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						ACAAAGCAGTCATCAGATATC	0.547																																						uc002spl.1		NaN																	0					0						c.(841-843)GAC>AAC		gelsolin-like capping protein							244.0	211.0	222.0					2																	85625194		2203	4300	6503	SO:0001583	missense	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85625194C>T	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.796G>A	2.37:g.85625194C>T	ENSP00000387063:p.Asp266Asn					CAPG_uc002spm.1_Missense_Mutation_p.D266N|CAPG_uc010ysq.1_Missense_Mutation_p.D281N|CAPG_uc010fgi.1_Missense_Mutation_p.D281N|CAPG_uc010fgj.1_Missense_Mutation_p.D175N	p.D281N	NM_001747	NP_001738	P40121	CAPG_HUMAN			8	1091	-			281			Gelsolin-like 3.		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000409921.1	37	c.841G>A	CCDS58715.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323354	0.95708	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000453973;ENST00000409921;ENST00000409670;ENST00000409724	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.69	5.69	0.88448	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.76647	-0.2882	10	0.48119	T	0.1	.	15.3194	0.74109	0.0:1.0:0.0:0.0	.	260;266;281	B4DU58;B8ZZS7;P40121	.;.;CAPG_HUMAN	N	260;281;36;266;281;281	ENSP00000263867:D281N;ENSP00000397381:D36N;ENSP00000387063:D266N;ENSP00000386315:D281N;ENSP00000386965:D281N	ENSP00000263867:D281N	D	-	1	0	CAPG	85478705	1.000000	0.71417	0.967000	0.41034	0.943000	0.58893	6.890000	0.75633	2.690000	0.91761	0.555000	0.69702	GAC		0.547	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1		NM_001747		23	129	0	0	0	0.01441	0	23	129		
CAPG	822	broad.mit.edu	37	2	85625197	85625197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:85625197C>T	ENST00000409921.1	-	8	859	c.793G>A	c.(793-795)Gat>Aat	p.D265N	CAPG_ENST00000409724.1_Missense_Mutation_p.D280N|CAPG_ENST00000409670.1_Missense_Mutation_p.D280N|CAPG_ENST00000263867.4_Missense_Mutation_p.D280N|CAPG_ENST00000483659.1_5'UTR			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0			M -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AAGCAGTCATCAGATATCAGC	0.547																																						uc002spl.1		NaN																	0					0						c.(838-840)GAT>AAT		gelsolin-like capping protein							243.0	210.0	221.0					2																	85625197		2203	4300	6503	SO:0001583	missense	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85625197C>T	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.793G>A	2.37:g.85625197C>T	ENSP00000387063:p.Asp265Asn					CAPG_uc002spm.1_Missense_Mutation_p.D265N|CAPG_uc010ysq.1_Missense_Mutation_p.D280N|CAPG_uc010fgi.1_Missense_Mutation_p.D280N|CAPG_uc010fgj.1_Missense_Mutation_p.D174N	p.D280N	NM_001747	NP_001738	P40121	CAPG_HUMAN			8	1088	-			280			Gelsolin-like 3.		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000409921.1	37	c.838G>A	CCDS58715.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692294	0.88735	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000453973;ENST00000409921;ENST00000409670;ENST00000409724	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.69	5.69	0.88448	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	L	0.38953	1.18	0.58432	D	0.999998	D;D;D	0.89917	0.998;0.991;1.0	D;P;D	0.87578	0.946;0.861;0.998	T	0.51601	-0.8685	10	0.13108	T	0.6	.	15.3194	0.74109	0.0:1.0:0.0:0.0	.	259;265;280	B4DU58;B8ZZS7;P40121	.;.;CAPG_HUMAN	N	259;280;35;265;280;280	ENSP00000263867:D280N;ENSP00000397381:D35N;ENSP00000387063:D265N;ENSP00000386315:D280N;ENSP00000386965:D280N	ENSP00000263867:D280N	D	-	1	0	CAPG	85478708	0.998000	0.40836	0.221000	0.23827	0.929000	0.56500	4.150000	0.58098	2.690000	0.91761	0.555000	0.69702	GAT		0.547	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1		NM_001747		19	133	0	0	0	0.01441	0	19	133		
CAPG	822	broad.mit.edu	37	2	85625233	85625233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:85625233C>T	ENST00000409921.1	-	8	823	c.757G>A	c.(757-759)Gac>Aac	p.D253N	CAPG_ENST00000409724.1_Missense_Mutation_p.D268N|CAPG_ENST00000409670.1_Missense_Mutation_p.D268N|CAPG_ENST00000263867.4_Missense_Mutation_p.D268N|CAPG_ENST00000483659.1_5'UTR			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GGGCTGGAGTCAGCCACCTTG	0.567																																						uc002spl.1		NaN																	0					0						c.(802-804)GAC>AAC		gelsolin-like capping protein							201.0	174.0	183.0					2																	85625233		2203	4300	6503	SO:0001583	missense	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85625233C>T	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.757G>A	2.37:g.85625233C>T	ENSP00000387063:p.Asp253Asn					CAPG_uc002spm.1_Missense_Mutation_p.D253N|CAPG_uc010ysq.1_Missense_Mutation_p.D268N|CAPG_uc010fgi.1_Missense_Mutation_p.D268N|CAPG_uc010fgj.1_Missense_Mutation_p.D162N	p.D268N	NM_001747	NP_001738	P40121	CAPG_HUMAN			8	1052	-			268			Gelsolin-like 3.		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000409921.1	37	c.802G>A	CCDS58715.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475158	0.63737	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000453973;ENST00000409921;ENST00000409670;ENST00000409724	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.55	4.67	0.58626	.	0.045983	0.85682	D	0.000000	T	0.35828	0.0945	L	0.46741	1.465	0.49798	D	0.999827	P;B;B	0.43788	0.817;0.326;0.102	B;B;B	0.40534	0.332;0.087;0.121	T	0.11518	-1.0584	10	0.37606	T	0.19	.	10.5646	0.45165	0.0:0.9107:0.0:0.0893	.	247;253;268	B4DU58;B8ZZS7;P40121	.;.;CAPG_HUMAN	N	247;268;23;253;268;268	ENSP00000263867:D268N;ENSP00000397381:D23N;ENSP00000387063:D253N;ENSP00000386315:D268N;ENSP00000386965:D268N	ENSP00000263867:D268N	D	-	1	0	CAPG	85478744	0.088000	0.21588	0.179000	0.23059	0.798000	0.45092	2.559000	0.45888	1.338000	0.45544	0.555000	0.69702	GAC		0.567	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1		NM_001747		22	101	0	0	0	0.01441	0	22	101		
CD8A	925	broad.mit.edu	37	2	87017470	87017470	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:87017470G>T	ENST00000409511.2	-	5	1414	c.384C>A	c.(382-384)ttC>ttA	p.F128L	CD8A_ENST00000409781.1_Missense_Mutation_p.F128L|CD8A_ENST00000352580.3_Missense_Mutation_p.F128L|CD8A_ENST00000283635.3_Missense_Mutation_p.F128L|CD8A_ENST00000456996.2_Missense_Mutation_p.F128L|CD8A_ENST00000538832.1_Missense_Mutation_p.F169L	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	128	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AGACCGGCACGAAGTGGCTGA	0.627																																						uc002srt.2		NaN																	0				ovary(1)	1						c.(382-384)TTC>TTA		CD8 antigen alpha polypeptide isoform 1							39.0	42.0	41.0					2																	87017470		2203	4300	6503	SO:0001583	missense	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87017470G>T		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.384C>A	2.37:g.87017470G>T	ENSP00000386559:p.Phe128Leu					RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.F128L|CD8A_uc010ytn.1_Missense_Mutation_p.F169L|CD8A_uc002sru.2_Missense_Mutation_p.F128L	p.F128L	NM_001768	NP_001759	P01732	CD8A_HUMAN			2	1273	-			128			Ig-like V-type.|Extracellular (Potential).		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	c.384C>A	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249596	0.22880	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	4.69	0.595	0.17490	Immunoglobulin-like fold (1);	0.896444	0.09628	N	0.776637	T	0.50905	0.1643	L	0.43152	1.355	0.22142	N	0.999338	D;P;B	0.89917	1.0;0.652;0.429	D;B;B	0.72338	0.977;0.097;0.18	T	0.39643	-0.9604	10	0.02654	T	1	-16.3767	8.1316	0.31031	0.0902:0.4588:0.4509:0.0	.	169;128;128	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	L	128;128;128;128;113;169;128	ENSP00000398868:F128L;ENSP00000321631:F128L;ENSP00000283635:F128L;ENSP00000386559:F128L;ENSP00000438371:F169L;ENSP00000387314:F128L	ENSP00000283635:F128L	F	-	3	2	CD8A	86870981	0.002000	0.14202	0.031000	0.17742	0.295000	0.27426	-0.001000	0.12947	-0.082000	0.12640	0.561000	0.74099	TTC		0.627	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3		NM_001768		26	59	1	0	3.99451e-17	0.009535	4.46986e-17	26	59		
TMEM131	23505	broad.mit.edu	37	2	98409038	98409038	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:98409038C>T	ENST00000186436.5	-	31	4183	c.3955G>A	c.(3955-3957)Gaa>Aaa	p.E1319K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1319	Pro-rich.					integral component of membrane (GO:0016021)		p.E1206Q(1)|p.E1206*(1)|p.E1319Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GACAGCCTTTCAGGCTGCGGC	0.677																																						uc002syh.3		NaN																	3	Substitution - Missense(2)|Substitution - Nonsense(1)		cervix(2)|breast(1)	ovary(4)|central_nervous_system(2)	6						c.(3955-3957)GAA>AAA		RW1 protein							21.0	25.0	23.0					2																	98409038		2093	4223	6316	SO:0001583	missense	23505					integral to membrane		g.chr2:98409038C>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3955G>A	2.37:g.98409038C>T	ENSP00000186436:p.Glu1319Lys						p.E1319K	NM_015348	NP_056163	Q92545	TM131_HUMAN			31	4184	-			1319			Pro-rich.			Missense_Mutation	SNP	ENST00000186436.5	37	c.3955G>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636770	0.47049	.	.	ENSG00000075568	ENST00000186436	T	0.22945	1.93	5.91	5.91	0.95273	.	0.562624	0.18838	N	0.129774	T	0.22166	0.0534	L	0.36672	1.1	0.80722	D	1	B	0.28713	0.22	B	0.22386	0.039	T	0.07751	-1.0756	10	0.10377	T	0.69	-2.0572	19.8936	0.96942	0.0:1.0:0.0:0.0	.	1319	Q92545	TM131_HUMAN	K	1319	ENSP00000186436:E1319K	ENSP00000186436:E1319K	E	-	1	0	TMEM131	97775470	0.161000	0.22892	0.008000	0.14137	0.651000	0.38670	3.599000	0.54045	2.793000	0.96121	0.655000	0.94253	GAA		0.677	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2		XM_371542		7	20	0	0	0	0.00308	0	7	20		
EIF5B	9669	broad.mit.edu	37	2	100006265	100006265	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:100006265G>A	ENST00000289371.6	+	15	2558	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	786	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TACAAAAGATGAATTTGAGGA	0.353																																					Colon(162;2388 2567 2705 3444)	uc002tab.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2356-2358)GAA>AAA		eukaryotic translation initiation factor 5B							77.0	73.0	75.0					2																	100006265		1821	4083	5904	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:100006265G>A	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2356G>A	2.37:g.100006265G>A	ENSP00000289371:p.Glu786Lys						p.E786K	NM_015904	NP_056988	O60841	IF2P_HUMAN			15	2540	+			786					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.2356G>A	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619050	0.96649	.	.	ENSG00000158417	ENST00000289371	T	0.70045	-0.45	5.86	5.86	0.93980	Protein synthesis factor, GTP-binding (1);	.	.	.	.	T	0.82070	0.4957	M	0.78223	2.4	0.80722	D	1	P	0.52316	0.952	D	0.63192	0.912	T	0.80674	-0.1277	8	.	.	.	-32.9193	20.2019	0.98263	0.0:0.0:1.0:0.0	.	786	O60841	IF2P_HUMAN	K	786	ENSP00000289371:E786K	.	E	+	1	0	EIF5B	99372697	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.658000	0.98594	2.776000	0.95493	0.655000	0.94253	GAA		0.353	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2		NM_015904		31	53	0	0	0	0.006999	0	31	53		
EIF5B	9669	broad.mit.edu	37	2	100006708	100006708	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:100006708G>C	ENST00000289371.6	+	16	2632	c.2430G>C	c.(2428-2430)gaG>gaC	p.E810D		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	810	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTTTTATGAGAATAAAGATC	0.428																																					Colon(162;2388 2567 2705 3444)	uc002tab.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2428-2430)GAG>GAC		eukaryotic translation initiation factor 5B							244.0	218.0	226.0					2																	100006708		1856	4100	5956	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:100006708G>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2430G>C	2.37:g.100006708G>C	ENSP00000289371:p.Glu810Asp						p.E810D	NM_015904	NP_056988	O60841	IF2P_HUMAN			16	2614	+			810					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.2430G>C	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330408	0.60743	.	.	ENSG00000158417	ENST00000289371	T	0.76316	-1.01	5.64	3.82	0.43975	Protein synthesis factor, GTP-binding (1);	.	.	.	.	T	0.78666	0.4319	M	0.70842	2.15	0.58432	D	0.999999	B	0.24317	0.101	B	0.38225	0.268	T	0.74300	-0.3710	8	.	.	.	-27.6956	10.4771	0.44672	0.2085:0.0:0.7915:0.0	.	810	O60841	IF2P_HUMAN	D	810	ENSP00000289371:E810D	.	E	+	3	2	EIF5B	99373140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.204000	0.51082	1.524000	0.49035	-0.258000	0.10820	GAG		0.428	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2		NM_015904		70	178	0	0	0	0.01441	0	70	178		
EIF5B	9669	broad.mit.edu	37	2	100007070	100007070	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:100007070G>C	ENST00000289371.6	+	17	2852	c.2650G>C	c.(2650-2652)Gaa>Caa	p.E884Q		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	884					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCGTTTGAAGGAAGGAGATAC	0.448																																					Colon(162;2388 2567 2705 3444)	uc002tab.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2650-2652)GAA>CAA		eukaryotic translation initiation factor 5B							176.0	163.0	167.0					2																	100007070		1958	4153	6111	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:100007070G>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2650G>C	2.37:g.100007070G>C	ENSP00000289371:p.Glu884Gln						p.E884Q	NM_015904	NP_056988	O60841	IF2P_HUMAN			17	2834	+			884					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.2650G>C	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429542	0.96131	.	.	ENSG00000158417	ENST00000289371	T	0.64085	-0.08	5.53	5.53	0.82687	Translation elongation factor EFTu/EF1A, domain 2 (1);	.	.	.	.	T	0.80597	0.4653	M	0.80028	2.48	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.80432	-0.1385	8	.	.	.	-33.0858	19.8113	0.96547	0.0:0.0:1.0:0.0	.	884	O60841	IF2P_HUMAN	Q	884	ENSP00000289371:E884Q	.	E	+	1	0	EIF5B	99373502	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.700000	0.98707	2.746000	0.94184	0.561000	0.74099	GAA		0.448	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2		NM_015904		33	105	0	0	0	0.007835	0	33	105		
SLC9A2	6549	broad.mit.edu	37	2	103322367	103322367	+	Silent	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:103322367A>G	ENST00000233969.2	+	11	2182	c.2040A>G	c.(2038-2040)ctA>ctG	p.L680L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	680					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CAGAAAAGCTACAAAAGAGGA	0.303																																						uc002tca.2		NaN																	0				central_nervous_system(3)|skin(3)|breast(2)	8						c.(2038-2040)CTA>CTG		solute carrier family 9 (sodium/hydrogen							45.0	49.0	48.0					2																	103322367		2202	4293	6495	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103322367A>G		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2040A>G	2.37:g.103322367A>G							p.L680L	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			11	2182	+			680			Cytoplasmic (Potential).		B2RMS2	Silent	SNP	ENST00000233969.2	37	c.2040A>G	CCDS2062.1																																																																																				0.303	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2				13	30	0	0	0	0.003163	0	13	30		
ST6GAL2	84620	broad.mit.edu	37	2	107446552	107446552	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:107446552G>T	ENST00000409382.3	-	5	1898	c.1288C>A	c.(1288-1290)Caa>Aaa	p.Q430K	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.Q430K|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.Q430K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	430					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGGTTTGGTTGAATCTTCTCT	0.368																																						uc002tdq.2		NaN																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(1288-1290)CAA>AAA		ST6 beta-galactosamide							128.0	136.0	134.0					2																	107446552		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107446552G>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1288C>A	2.37:g.107446552G>T	ENSP00000386942:p.Gln430Lys					ST6GAL2_uc002tdr.2_Missense_Mutation_p.Q430K|ST6GAL2_uc002tds.3_Missense_Mutation_p.Q430K	p.Q430K	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			5	1407	-			430			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1288C>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883433	0.91740	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.74632	-0.86;-0.86;-0.86	6.06	6.06	0.98353	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	D	0.84786	0.5549	M	0.66506	2.035	0.80722	D	1	D;P	0.63046	0.992;0.599	D;P	0.64410	0.925;0.47	T	0.82602	-0.0376	10	0.41790	T	0.15	-44.5598	19.609	0.95594	0.0:0.0:1.0:0.0	.	430;430	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	K	430	ENSP00000355273:Q430K;ENSP00000386942:Q430K;ENSP00000387332:Q430K	ENSP00000355273:Q430K	Q	-	1	0	ST6GAL2	106812984	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CAA		0.368	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1		NM_032528		40	126	1	0	5.44703e-19	0.009718	6.17824e-19	40	126		
RANBP2	5903	broad.mit.edu	37	2	109382668	109382668	+	Silent	SNP	C	C	A	rs534500585		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:109382668C>A	ENST00000283195.6	+	20	5799	c.5673C>A	c.(5671-5673)atC>atA	p.I1891I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1891					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATTTTCCATCCCTGTGTCTG	0.378																																						uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(5671-5673)ATC>ATA		RAN binding protein 2							69.0	82.0	77.0					2																	109382668		2125	4253	6378	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382668C>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5673C>A	2.37:g.109382668C>A							p.I1891I	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	5799	+			1891					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.5673C>A	CCDS2079.1																																																																																				0.378	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		19	125	1	0	2.27525e-19	0.003954	2.59584e-19	19	125		
RANBP2	5903	broad.mit.edu	37	2	109383783	109383783	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:109383783C>G	ENST00000283195.6	+	20	6914	c.6788C>G	c.(6787-6789)tCa>tGa	p.S2263*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2263					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTGGTGAGTCAACAACAGGA	0.418																																						uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(6787-6789)TCA>TGA		RAN binding protein 2							260.0	273.0	269.0					2																	109383783		2203	4300	6503	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383783C>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6788C>G	2.37:g.109383783C>G	ENSP00000283195:p.Ser2263*						p.S2263*	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	6914	+			2263					Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.6788C>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	47	13.591904	0.99751	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-18.5975	20.0591	0.97667	0.0:1.0:0.0:0.0	.	.	.	.	X	1287;2263	.	ENSP00000283195:S2263X	S	+	2	0	RANBP2	108750215	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.753000	0.94483	0.455000	0.32223	TCA		0.418	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		50	297	0	0	0	0.01441	0	50	297		
CLASP1	23332	broad.mit.edu	37	2	122182786	122182786	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:122182786G>A	ENST00000263710.4	-	22	2530	c.2141C>T	c.(2140-2142)tCa>tTa	p.S714L	CLASP1_ENST00000409078.3_Missense_Mutation_p.S714L|CLASP1_ENST00000545861.1_Missense_Mutation_p.S490L|CLASP1_ENST00000541377.1_Missense_Mutation_p.S721L|CLASP1_ENST00000541859.1_Missense_Mutation_p.S483L|CLASP1_ENST00000397587.3_Missense_Mutation_p.S722L|CLASP1_ENST00000455322.2_Missense_Mutation_p.S714L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	714	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCGCTTTTCTGAAGACGGTGT	0.512																																						uc002tnc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2140-2142)TCA>TTA		CLIP-associating protein 1 isoform 1							113.0	111.0	111.0					2																	122182786		1857	4092	5949	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122182786G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2141C>T	2.37:g.122182786G>A	ENSP00000263710:p.Ser714Leu					CLASP1_uc002tmz.2_5'UTR|CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.S722L|CLASP1_uc010yza.1_Missense_Mutation_p.S714L|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.S721L	p.S714L	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			22	2531	-	Renal(3;0.0496)		714			Ser-rich.|Interaction with microtubules, MAPRE1 and MAPRE3.		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.2141C>T		.	.	.	.	.	.	.	.	.	.	G	19.47	3.833428	0.71258	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000463621	T;T;T;T;T;T	0.45668	2.2;2.16;2.22;2.21;0.89;2.19	5.83	5.83	0.93111	Armadillo-type fold (1);	0.152670	0.45361	D	0.000371	T	0.44993	0.1320	L	0.56769	1.78	0.47659	D	0.99948	B;B;B;B	0.26845	0.1;0.161;0.1;0.148	B;B;B;B	0.21708	0.014;0.033;0.036;0.031	T	0.34850	-0.9812	10	0.56958	D	0.05	-8.0939	20.1047	0.97888	0.0:0.0:1.0:0.0	.	714;722;721;714	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	L	714;714;722;721;483;714;490;55	ENSP00000263710:S714L;ENSP00000389372:S714L;ENSP00000380717:S722L;ENSP00000441625:S721L;ENSP00000441770:S483L;ENSP00000386442:S714L	ENSP00000263710:S714L	S	-	2	0	CLASP1	121899256	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	9.624000	0.98398	2.762000	0.94881	0.655000	0.94253	TCA		0.512	CLASP1-201	KNOWN	basic	protein_coding	protein_coding			NM_015282		31	68	0	0	0	0.003271	0	31	68		
CSRNP3	80034	broad.mit.edu	37	2	166514277	166514277	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:166514277C>G	ENST00000342316.4	+	3	427	c.155C>G	c.(154-156)tCc>tGc	p.S52C	CSRNP3_ENST00000409420.1_Missense_Mutation_p.S84C|CSRNP3_ENST00000314499.7_Missense_Mutation_p.S52C	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	52	Ser-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TCAGCTTCCTCCATTCTCAAA	0.443																																						uc002udf.2		NaN																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(154-156)TCC>TGC		cysteine-serine-rich nuclear protein 3							67.0	64.0	65.0					2																	166514277		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166514277C>G	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.155C>G	2.37:g.166514277C>G	ENSP00000344042:p.Ser52Cys					CSRNP3_uc002udg.2_Missense_Mutation_p.S52C	p.S52C	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			5	531	+			52			Ser-rich.		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.155C>G	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586333	0.86851	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.79258	2.445	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.47983	-0.9074	10	0.87932	D	0	-14.9299	19.2061	0.93730	0.0:1.0:0.0:0.0	.	52	Q8WYN3	CSRN3_HUMAN	C	52;59;52;52;52;84	ENSP00000412081:S52C;ENSP00000318258:S52C;ENSP00000386278:S52C;ENSP00000344042:S52C;ENSP00000387195:S84C	ENSP00000318258:S52C	S	+	2	0	CSRNP3	166222523	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.744000	0.85034	2.604000	0.88044	0.563000	0.77884	TCC		0.443	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2		NM_024969		31	85	0	0	0	0.00874	0	31	85		
CERS6	253782	broad.mit.edu	37	2	169313067	169313067	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:169313067G>T	ENST00000305747.6	+	1	696	c.109G>T	c.(109-111)Gac>Tac	p.D37Y	CERS6_ENST00000392687.4_Missense_Mutation_p.D37Y	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	37					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GCAGGCTGAGGACCTCTATCT	0.597																																						uc002ueb.1		NaN																	0				skin(1)	1						c.(109-111)GAC>TAC		longevity assurance homolog 6							200.0	142.0	161.0					2																	169313067		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169313067G>T	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.109G>T	2.37:g.169313067G>T	ENSP00000306579:p.Asp37Tyr					LASS6_uc002uec.1_Missense_Mutation_p.D37Y	p.D37Y	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN			1	233	+			37			Helical; (Potential).		Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.109G>T	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882801	0.91740	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.68903	-0.36;-0.36	4.85	4.85	0.62838	.	0.210777	0.48767	D	0.000178	T	0.73799	0.3633	M	0.83384	2.64	0.80722	D	1	P;P	0.43885	0.82;0.82	B;B	0.43018	0.405;0.405	T	0.80710	-0.1261	10	0.87932	D	0	-14.1204	17.985	0.89153	0.0:0.0:1.0:0.0	.	37;37	Q32M63;Q6ZMG9	.;CERS6_HUMAN	Y	37	ENSP00000306579:D37Y;ENSP00000376453:D37Y	ENSP00000306579:D37Y	D	+	1	0	CERS6	169021313	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.346000	0.97056	2.230000	0.72887	0.467000	0.42956	GAC		0.597	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2		NM_203463		19	59	1	0	3.83957e-06	0.00278	4.00442e-06	19	59		
GAD1	2571	broad.mit.edu	37	2	171702544	171702544	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:171702544G>C	ENST00000358196.3	+	10	1523	c.973G>C	c.(973-975)Gag>Cag	p.E325Q		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	325					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AGCTGATTTTGAGGCAAAAAT	0.363																																						uc002ugi.2		NaN																	0				ovary(1)	1						c.(973-975)GAG>CAG		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						61.0	65.0	64.0					2																	171702544		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171702544G>C		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.973G>C	2.37:g.171702544G>C	ENSP00000350928:p.Glu325Gln						p.E325Q	NM_000817	NP_000808	Q99259	DCE1_HUMAN			10	1395	+			325					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.973G>C	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117508	0.56505	.	.	ENSG00000128683	ENST00000358196	T	0.47869	0.83	5.91	5.02	0.67125	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.091999	0.64402	N	0.000001	T	0.55737	0.1939	M	0.78456	2.415	0.80722	D	1	B	0.25521	0.128	B	0.31290	0.127	T	0.59369	-0.7467	10	0.87932	D	0	-18.9597	17.1455	0.86765	0.0:0.1264:0.8735:0.0	.	325	Q99259	DCE1_HUMAN	Q	325	ENSP00000350928:E325Q	ENSP00000350928:E325Q	E	+	1	0	GAD1	171410790	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.546000	0.82137	1.489000	0.48450	0.655000	0.94253	GAG		0.363	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2				22	105	0	0	0	0.005443	0	22	105		
SLC25A12	8604	broad.mit.edu	37	2	172691273	172691273	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:172691273G>C	ENST00000422440.2	-	7	752	c.715C>G	c.(715-717)Cta>Gta	p.L239V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.L132V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	239					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GTGCCAGCTAGAGTGCTATAT	0.373																																						uc002uhh.2		NaN																	0					0						c.(715-717)CTA>GTA		solute carrier family 25, member 12	L-Aspartic Acid(DB00128)						135.0	127.0	130.0					2																	172691273		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172691273G>C	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.715C>G	2.37:g.172691273G>C	ENSP00000388658:p.Leu239Val					SLC25A12_uc010fqh.2_Missense_Mutation_p.L132V|SLC25A12_uc010zdv.1_RNA	p.L239V	NM_003705	NP_003696	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		7	804	-			239					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.715C>G	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	7.733	0.699686	0.15106	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78126	-1.15;-1.15	5.51	3.56	0.40772	.	0.286608	0.33075	N	0.005316	T	0.54382	0.1855	N	0.12961	0.28	0.37380	D	0.912015	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.41124	-0.9526	10	0.14252	T	0.57	-7.0759	4.5239	0.11973	0.2088:0.0:0.5094:0.2818	.	132;239	B3KR64;O75746	.;CMC1_HUMAN	V	239;132	ENSP00000388658:L239V;ENSP00000376371:L132V	ENSP00000376371:L132V	L	-	1	2	SLC25A12	172399519	0.971000	0.33674	1.000000	0.80357	0.998000	0.95712	0.573000	0.23699	0.643000	0.30638	0.563000	0.77884	CTA		0.373	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2		NM_003705		34	105	0	0	0	0.011902	0	34	105		
NFE2L2	4780	broad.mit.edu	37	2	178097233	178097233	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:178097233G>C	ENST00000397062.3	-	4	1035	c.481C>G	c.(481-483)Cag>Gag	p.Q161E	NFE2L2_ENST00000446151.2_Missense_Mutation_p.Q138E|NFE2L2_ENST00000423513.1_3'UTR|NFE2L2_ENST00000397063.4_Missense_Mutation_p.Q145E|NFE2L2_ENST00000464747.1_Missense_Mutation_p.Q145E	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	161					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GACTGAGCCTGATTAGTAGCA	0.448			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NaN		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		0				central_nervous_system(1)	1						c.(481-483)CAG>GAG		nuclear factor erythroid 2-like 2 isoform 1							76.0	72.0	73.0					2																	178097233		1925	4129	6054	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178097233G>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.481C>G	2.37:g.178097233G>C	ENSP00000380252:p.Gln161Glu	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.Q145E|NFE2L2_uc010zfa.1_Missense_Mutation_p.Q138E|NFE2L2_uc002uli.3_Missense_Mutation_p.Q145E|NFE2L2_uc010fra.2_3'UTR	p.Q161E	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		4	1036	-			161					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.481C>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728698	0.48833	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929	T;T;T;T;T	0.42131	0.98;0.98;2.33;0.98;0.98	5.94	5.94	0.96194	.	0.337626	0.31897	N	0.006883	T	0.45577	0.1349	M	0.77616	2.38	0.80722	D	1	B;B	0.31625	0.332;0.332	B;B	0.32211	0.108;0.142	T	0.50693	-0.8798	10	0.02654	T	1	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	138;161	E9PGJ7;Q16236	.;NF2L2_HUMAN	E	145;161;138;145;145	ENSP00000380253:Q145E;ENSP00000380252:Q161E;ENSP00000411575:Q138E;ENSP00000400073:Q145E;ENSP00000412191:Q145E	ENSP00000380252:Q161E	Q	-	1	0	NFE2L2	177805479	1.000000	0.71417	0.962000	0.40283	0.680000	0.39746	5.856000	0.69518	2.826000	0.97356	0.561000	0.74099	CAG		0.448	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		9	56	0	0	0	0.006214	0	9	56		
ITGA4	3676	broad.mit.edu	37	2	182363467	182363467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:182363467G>C	ENST00000397033.2	+	15	2088	c.1658G>C	c.(1657-1659)aGa>aCa	p.R553T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	553					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GTGTCCAGCAGAGAAGCTAAC	0.383																																						uc002unu.2		NaN																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1657-1659)AGA>ACA		integrin alpha 4 precursor	Natalizumab(DB00108)						102.0	98.0	99.0					2																	182363467		1992	4171	6163	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182363467G>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1658G>C	2.37:g.182363467G>C	ENSP00000380227:p.Arg553Thr					ITGA4_uc010frj.1_Missense_Mutation_p.R35T	p.R553T	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		15	2421	+			553			Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1658G>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	5.153	0.213817	0.09810	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.45276	0.9;0.9	5.62	-5.08	0.02929	Integrin alpha-2 (1);	1.099360	0.06587	N	0.751375	T	0.12518	0.0304	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.19224	-1.0312	10	0.13470	T	0.59	.	3.2418	0.06783	0.4902:0.1937:0.2183:0.0978	.	375;553	Q59H74;P13612	.;ITA4_HUMAN	T	553	ENSP00000380227:R553T;ENSP00000233573:R553T	ENSP00000233573:R553T	R	+	2	0	ITGA4	182071712	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.596000	0.05720	-0.788000	0.04504	0.557000	0.71058	AGA		0.383	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1				18	79	0	0	0	0.00278	0	18	79		
MSTN	2660	broad.mit.edu	37	2	190924966	190924966	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:190924966C>T	ENST00000260950.4	-	2	701	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	190					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTTCAGAGATCGGATTCCAGT	0.428																																						uc002urp.2		NaN																	0				lung(1)	1						c.(568-570)CGA>CAA		myostatin precursor							197.0	184.0	188.0					2																	190924966		2203	4300	6503	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190924966C>T	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.569G>A	2.37:g.190924966C>T	ENSP00000260950:p.Arg190Gln						p.R190Q	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		2	702	-			190					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.569G>A	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923567	0.73213	.	.	ENSG00000138379	ENST00000260950	T	0.70282	-0.47	5.76	5.76	0.90799	Transforming growth factor-beta, N-terminal (1);	0.060128	0.64402	D	0.000003	T	0.71099	0.3300	M	0.64080	1.96	0.80722	D	1	B	0.33135	0.399	B	0.31751	0.135	T	0.71334	-0.4624	10	0.54805	T	0.06	-6.1684	19.9636	0.97259	0.0:1.0:0.0:0.0	.	190	O14793	GDF8_HUMAN	Q	190	ENSP00000260950:R190Q	ENSP00000260950:R190Q	R	-	2	0	MSTN	190633211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.718000	0.92993	0.650000	0.86243	CGA		0.428	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2		NM_005259		43	239	0	0	0	0.01441	0	43	239		
MSTN	2660	broad.mit.edu	37	2	190925004	190925004	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:190925004G>C	ENST00000260950.4	-	2	663	c.531C>G	c.(529-531)atC>atG	p.I177M	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	177					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TCATAGGTTTGATGAGTCTCA	0.413																																						uc002urp.2		NaN																	0				lung(1)	1						c.(529-531)ATC>ATG		myostatin precursor							174.0	164.0	167.0					2																	190925004		2203	4300	6503	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190925004G>C	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.531C>G	2.37:g.190925004G>C	ENSP00000260950:p.Ile177Met						p.I177M	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		2	664	-			177					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.531C>G	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	G	5.212	0.224544	0.09916	.	.	ENSG00000138379	ENST00000260950	T	0.64618	-0.11	5.76	5.76	0.90799	Transforming growth factor-beta, N-terminal (1);	0.131508	0.64402	D	0.000001	T	0.43478	0.1249	N	0.17379	0.485	0.39863	D	0.9734	B	0.16396	0.017	B	0.19666	0.026	T	0.38351	-0.9665	10	0.19590	T	0.45	-5.2375	10.0782	0.42373	0.1535:0.0:0.8465:0.0	.	177	O14793	GDF8_HUMAN	M	177	ENSP00000260950:I177M	ENSP00000260950:I177M	I	-	3	3	MSTN	190633249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.435000	0.44811	2.718000	0.92993	0.650000	0.86243	ATC		0.413	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2		NM_005259		11	228	0	0	0	0.013537	0	11	228		
MSTN	2660	broad.mit.edu	37	2	190926953	190926953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:190926953C>G	ENST00000260950.4	-	1	502	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	124					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TACTTACACTCTGTAGGCATG	0.403																																						uc002urp.2		NaN																	0				lung(1)	1						c.(370-372)GAG>CAG		myostatin precursor							123.0	113.0	117.0					2																	190926953		2203	4299	6502	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190926953C>G	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.370G>C	2.37:g.190926953C>G	ENSP00000260950:p.Glu124Gln						p.E124Q	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		1	503	-			124					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.370G>C	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642110	0.87859	.	.	ENSG00000138379	ENST00000260950	T	0.67523	-0.27	5.55	5.55	0.83447	Transforming growth factor-beta, N-terminal (1);	0.045706	0.85682	D	0.000000	T	0.76054	0.3934	M	0.74467	2.265	0.80722	D	1	B	0.25719	0.132	B	0.39935	0.314	T	0.74188	-0.3746	10	0.59425	D	0.04	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	124	O14793	GDF8_HUMAN	Q	124	ENSP00000260950:E124Q	ENSP00000260950:E124Q	E	-	1	0	MSTN	190635198	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.651000	0.83577	2.894000	0.99253	0.655000	0.94253	GAG		0.403	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2		NM_005259		44	218	0	0	0	0.01441	0	44	218		
MSTN	2660	broad.mit.edu	37	2	190927191	190927191	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:190927191C>A	ENST00000260950.4	-	1	264	c.132G>T	c.(130-132)tgG>tgT	p.W44C	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	44					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGTTTTGTCTCCAAGTACATG	0.378																																						uc002urp.2		NaN																	0				lung(1)	1						c.(130-132)TGG>TGT		myostatin precursor							200.0	196.0	197.0					2																	190927191		2203	4300	6503	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190927191C>A	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.132G>T	2.37:g.190927191C>A	ENSP00000260950:p.Trp44Cys						p.W44C	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		1	265	-			44					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.132G>T	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833945	0.50951	.	.	ENSG00000138379	ENST00000260950	T	0.64438	-0.1	5.64	5.64	0.86602	Transforming growth factor-beta, N-terminal (1);	0.170819	0.53938	D	0.000048	T	0.74390	0.3710	L	0.53249	1.67	0.58432	D	0.999999	P	0.51537	0.946	P	0.59115	0.852	T	0.74355	-0.3692	10	0.66056	D	0.02	-5.4724	19.8946	0.96949	0.0:1.0:0.0:0.0	.	44	O14793	GDF8_HUMAN	C	44	ENSP00000260950:W44C	ENSP00000260950:W44C	W	-	3	0	MSTN	190635436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.994000	0.40757	2.937000	0.99478	0.650000	0.86243	TGG		0.378	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2		NM_005259		29	202	1	0	5.71845e-15	0.005524	6.3261e-15	29	202		
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000440274.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000432169.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000457011.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						uc002vbf.1		NaN																	4	Substitution - Missense(4)		endometrium(2)|lung(1)|kidney(1)		0						c.(127-129)AGC>GGC		eukaryotic translation elongation factor 1 beta							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.2_5'Flank	p.S43G	NM_001037663	NP_001032752	P24534	EF1B_HUMAN			3	285	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1		NM_001037663		5	248	0	0	0	0.000602	0	5	248		
ATIC	471	broad.mit.edu	37	2	216177324	216177324	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:216177324C>T	ENST00000236959.9	+	2	449	c.123C>T	c.(121-123)ctC>ctT	p.L41L	ATIC_ENST00000540518.1_5'UTR|ATIC_ENST00000435675.1_Silent_p.L40L	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	41					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CAAAAGCTCTCAGGGATGCTG	0.488			T	ALK	ALCL																																	uc002vex.3		NaN		Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29						c.(121-123)CTC>CTT		5-aminoimidazole-4-carboxamide ribonucleotide	Tetrahydrofolic acid(DB00116)						78.0	76.0	77.0					2																	216177324		2203	4300	6503	SO:0001819	synonymous_variant	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216177324C>T		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.123C>T	2.37:g.216177324C>T						ATIC_uc010zjo.1_5'UTR|ATIC_uc002vey.3_Silent_p.L40L	p.L41L	NM_004044	NP_004035	P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	2	297	+		Renal(323;0.229)	41					A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP	ENST00000236959.9	37	c.123C>T	CCDS2398.1																																																																																				0.488	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1		NM_004044		22	38	0	0	0	0.00333	0	22	38		
SLC23A3	151295	broad.mit.edu	37	2	220033453	220033453	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:220033453G>A	ENST00000409878.3	-	5	627	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	SLC23A3_ENST00000396775.3_Intron|SLC23A3_ENST00000455516.2_Missense_Mutation_p.P207S|SLC23A3_ENST00000295738.7_Missense_Mutation_p.P199S	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	199					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAGGCTGGGAGCCAGCACC	0.662																																						uc010zks.1		NaN																	0					0						c.(595-597)CCC>TCC		solute carrier family 23 (nucleobase							24.0	29.0	28.0					2																	220033453		1973	4128	6101	SO:0001583	missense	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220033453G>A	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.595C>T	2.37:g.220033453G>A	ENSP00000386473:p.Pro199Ser					NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.P207S|SLC23A3_uc010fwb.2_Missense_Mutation_p.P199S|SLC23A3_uc002vjs.1_Missense_Mutation_p.S51F|SLC23A3_uc002vjt.1_Missense_Mutation_p.P57S	p.P199S	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	706	-		Renal(207;0.0474)	199			Helical; (Potential).		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	c.595C>T	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536076	0.64972	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.75	3.87	0.44632	.	0.275448	0.31949	N	0.006801	T	0.40272	0.1110	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.78314	0.921;0.921;0.991;0.921	T	0.16928	-1.0386	9	.	.	.	.	7.7039	0.28638	0.0836:0.0:0.7545:0.1619	.	199;207;199;199	Q6PIS1;B7Z512;Q6PIS1-2;B7Z508	S23A3_HUMAN;.;.;.	S	199;199;207;199;154	ENSP00000295738:P199S;ENSP00000386473:P199S;ENSP00000406546:P207S;ENSP00000386989:P199S;ENSP00000388907:P154S	.	P	-	1	0	SLC23A3	219741697	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.905000	0.56333	1.228000	0.43614	0.655000	0.94253	CCC		0.662	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2		NM_144712		4	15	0	0	0	0.000602	0	4	15		
SLC23A3	151295	broad.mit.edu	37	2	220034633	220034634	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:220034633_220034634GG>TA	ENST00000409878.3	-	1	105_106	c.73_74CC>TA	c.(73-75)CCa>TAa	p.P25*	SLC23A3_ENST00000396775.3_5'UTR|SLC23A3_ENST00000455516.2_Nonsense_Mutation_p.P25*|SLC23A3_ENST00000295738.7_Nonsense_Mutation_p.P25*	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	25					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAGCAGGTGGAGGCAAGGGG	0.614																																						uc010zks.1		NaN																	0					0						c.(73-75)CCA>TAA		solute carrier family 23 (nucleobase																																				SO:0001587	stop_gained	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220034633_220034634GG>TA	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.73_74delinsTA	2.37:g.220034633_220034634delinsTA	ENSP00000386473:p.Pro25*					NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Nonsense_Mutation_p.P25*|SLC23A3_uc010fwb.2_Nonsense_Mutation_p.P25*|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'Flank	p.P25*	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	184_185	-		Renal(207;0.0474)	25			Cytoplasmic (Potential).		B7Z512|Q2PYN6|Q96NA6	Nonsense_Mutation	DNP	ENST00000409878.3	37	c.73_74CC>TA	CCDS46518.1																																																																																				0.614	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2		NM_144712		4	35	0	0	0	0.004672	0	4	35		
TRIP12	9320	broad.mit.edu	37	2	230636274	230636274	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:230636274G>C	ENST00000283943.5	-	38	5722	c.5544C>G	c.(5542-5544)gtC>gtG	p.V1848V	TRIP12_ENST00000389045.3_Silent_p.V1578V|TRIP12_ENST00000389044.4_Silent_p.V1896V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1848					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGAGTGGGAAGACTGATTCAA	0.378																																						uc002vpw.1		NaN																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(5542-5544)GTC>GTG		thyroid hormone receptor interactor 12							83.0	82.0	82.0					2																	230636274		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230636274G>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5544C>G	2.37:g.230636274G>C						TRIP12_uc002vpx.1_Silent_p.V1896V|TRIP12_uc002vpy.1_Silent_p.V1578V	p.V1848V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	38	5653	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1848					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.5544C>G	CCDS33391.1																																																																																				0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3		NM_004238		5	47	0	0	0	0.001168	0	5	47		
INPP5D	3635	broad.mit.edu	37	2	234079180	234079180	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:234079180G>A	ENST00000359570.5	+	18	1794	c.1794G>A	c.(1792-1794)caG>caA	p.Q598Q	INPP5D_ENST00000455936.2_Silent_p.Q362Q|INPP5D_ENST00000450745.1_Silent_p.Q362Q|INPP5D_ENST00000538935.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	610					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGCAGCAGCAGTACGCAGACC	0.582																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1828-1830)CAG>CAA		SH2 containing inositol phosphatase isoform a							83.0	89.0	87.0					2																	234079180		2129	4251	6380	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234079180G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1794G>A	2.37:g.234079180G>A						INPP5D_uc010zmp.1_Silent_p.Q609Q	p.Q610Q	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	15	1983	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	610					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.1830G>A																																																																																					0.582	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001017915		18	36	0	0	0	0.00278	0	18	36		
TRIB3	57761	broad.mit.edu	37	20	376874	376874	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:376874C>T	ENST00000217233.3	+	4	1170	c.617C>T	c.(616-618)tCc>tTc	p.S206F	TRIB3_ENST00000422053.2_Missense_Mutation_p.S233F	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CTGGAGGACTCCTGCGTGCTG	0.607																																					Melanoma(101;421 2374 19538)	uc002wdm.2		NaN																	0				central_nervous_system(2)	2						c.(616-618)TCC>TTC		tribbles 3							58.0	56.0	57.0					20																	376874		2203	4300	6503	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:376874C>T	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.617C>T	20.37:g.376874C>T	ENSP00000217233:p.Ser206Phe					TRIB3_uc002wdn.2_Missense_Mutation_p.S233F	p.S206F	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	4	1123	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	206			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.617C>T	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425419	0.43020	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.70631	-0.5;-0.5;-0.5	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.136660	0.34088	N	0.004275	T	0.69160	0.3080	L	0.43554	1.36	0.09310	N	1	B;B	0.30793	0.295;0.295	B;B	0.38156	0.266;0.266	T	0.66681	-0.5862	10	0.66056	D	0.02	-23.9279	16.2303	0.82332	0.0:1.0:0.0:0.0	.	233;206	B4DMM9;Q96RU7	.;TRIB3_HUMAN	F	206;206;233	ENSP00000217233:S206F;ENSP00000391873:S206F;ENSP00000415416:S233F	ENSP00000217233:S206F	S	+	2	0	TRIB3	324874	0.036000	0.19791	0.474000	0.27266	0.751000	0.42716	3.127000	0.50484	2.688000	0.91661	0.655000	0.94253	TCC		0.607	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2		NM_021158		12	57	0	0	0	0.00245	0	12	57		
RIN2	54453	broad.mit.edu	37	20	19977329	19977329	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:19977329A>G	ENST00000255006.6	+	11	2503	c.2354A>G	c.(2353-2355)tAt>tGt	p.Y785C	RIN2_ENST00000440354.2_Missense_Mutation_p.Y303C|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	736					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCAGGAGGCTATTACTTGACA	0.498																																						uc002wro.1		NaN																	0				lung(4)|ovary(1)	5						c.(2206-2208)TAT>TGT		Ras and Rab interactor 2							57.0	60.0	59.0					20																	19977329		1940	4142	6082	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19977329A>G	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2354A>G	20.37:g.19977329A>G	ENSP00000255006:p.Tyr785Cys					RIN2_uc010gcu.1_Missense_Mutation_p.Y303C|RIN2_uc010gcv.1_Missense_Mutation_p.Y530C	p.Y736C	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			10	2243	+			736			VPS9.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.2207A>G	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.320837	0.81469	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.60672	0.17;0.17	5.69	5.69	0.88448	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84430	0.0576	9	.	.	.	-3.358	15.6057	0.76668	1.0:0.0:0.0:0.0	.	303;736	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	C	785;303	ENSP00000255006:Y785C;ENSP00000391239:Y303C	.	Y	+	2	0	RIN2	19925329	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.339000	0.96797	2.166000	0.68216	0.533000	0.62120	TAT		0.498	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1				15	44	0	0	0	0.004007	0	15	44		
KIF3B	9371	broad.mit.edu	37	20	30897849	30897849	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:30897849G>A	ENST00000375712.3	+	2	436	c.269G>A	c.(268-270)gGa>gAa	p.G90E	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	90	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTTTCAATGGAACCATTTTT	0.453																																						uc002wxq.2		NaN																	0				central_nervous_system(3)|ovary(2)	5						c.(268-270)GGA>GAA		kinesin family member 3B							110.0	100.0	103.0					20																	30897849		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30897849G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.269G>A	20.37:g.30897849G>A	ENSP00000364864:p.Gly90Glu					KIF3B_uc010ztv.1_Missense_Mutation_p.G90E|KIF3B_uc010ztw.1_Missense_Mutation_p.G90E	p.G90E	NM_004798	NP_004789	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	436	+			90			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.269G>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783229	0.70222	.	.	ENSG00000101350	ENST00000375712	T	0.75589	-0.95	4.95	4.0	0.46444	Kinesin, motor domain (5);	0.047533	0.85682	N	0.000000	D	0.91106	0.7200	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.94040	0.7308	10	0.87932	D	0	.	13.6686	0.62412	0.0746:0.0:0.9254:0.0	.	90;90	B4DYF2;O15066	.;KIF3B_HUMAN	E	90	ENSP00000364864:G90E	ENSP00000364864:G90E	G	+	2	0	KIF3B	30361510	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.601000	0.98297	1.455000	0.47813	0.561000	0.74099	GGA		0.453	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1		NM_004798		35	78	0	0	0	0.009718	0	35	78		
BPIFA2	140683	broad.mit.edu	37	20	31767433	31767433	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:31767433C>A	ENST00000253362.2	+	7	815	c.669C>A	c.(667-669)ttC>ttA	p.F223L	BPIFA2_ENST00000354932.5_Missense_Mutation_p.F223L			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	223						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										TCCGCATCTTCATCCACTCCC	0.527																																						uc002wyo.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(667-669)TTC>TTA		chromosome 20 open reading frame 70 precursor							174.0	162.0	166.0					20																	31767433		2203	4300	6503	SO:0001583	missense	140683					extracellular region	lipid binding	g.chr20:31767433C>A	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.669C>A	20.37:g.31767433C>A	ENSP00000253362:p.Phe223Leu						p.F223L	NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN			7	740	+			223					Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	c.669C>A	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.140385	0.01728	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.04275	3.66;3.66	3.26	-1.78	0.07957	.	1.511530	0.04258	N	0.339780	T	0.01940	0.0061	N	0.05124	-0.11	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.37220	-0.9715	10	0.02654	T	1	-3.9897	1.6532	0.02776	0.3581:0.3511:0.1759:0.1149	.	223	Q96DR5	BPIA2_HUMAN	L	223	ENSP00000253362:F223L;ENSP00000347012:F223L	ENSP00000253362:F223L	F	+	3	2	BPIFA2	31231094	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.637000	0.05459	-0.291000	0.09012	0.561000	0.74099	TTC		0.527	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1		NM_080574		60	147	1	0	5.02048e-33	0.01441	5.86561e-33	60	147		
CBFA2T2	9139	broad.mit.edu	37	20	32217653	32217653	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:32217653G>A	ENST00000346541.3	+	9	1725	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	CBFA2T2_ENST00000342704.6_Silent_p.L387L|CBFA2T2_ENST00000397800.1_Silent_p.L367L|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000492345.1_Silent_p.L367L|CBFA2T2_ENST00000359606.3_Silent_p.L406L|CBFA2T2_ENST00000375279.2_Silent_p.L396L	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	396					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						ACACAGAGCTGAGGAAAACGG	0.507																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1		NaN																	0				pancreas(1)|skin(1)	2						c.(1186-1188)CTG>CTA		core-binding factor, runt domain, alpha subunit							68.0	65.0	66.0					20																	32217653		2203	4300	6503	SO:0001819	synonymous_variant	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32217653G>A	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1188G>A	20.37:g.32217653G>A						CBFA2T2_uc010zug.1_Silent_p.L170L|CBFA2T2_uc002wze.1_Silent_p.L387L|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.L367L|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	p.L396L	NM_005093	NP_005084	O43439	MTG8R_HUMAN			9	1725	+			396					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Silent	SNP	ENST00000346541.3	37	c.1188G>A	CCDS13221.1																																																																																				0.507	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2		NM_001032999		5	34	0	0	0	0.001168	0	5	34		
SLC2A10	81031	broad.mit.edu	37	20	45354826	45354826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:45354826C>T	ENST00000359271.2	+	2	1401	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	384					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGAGACCCCTCAGCCCCTCCT	0.632																																						uc002xsl.2		NaN																	0				ovary(1)	1						c.(1150-1152)TCA>TTA		solute carrier family 2 member 10							63.0	64.0	64.0					20																	45354826		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354826C>T	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1151C>T	20.37:g.45354826C>T	ENSP00000352216:p.Ser384Leu						p.S384L	NM_030777	NP_110404	O95528	GTR10_HUMAN			2	1248	+		Myeloproliferative disorder(115;0.0122)	384			Extracellular (Potential).		A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.1151C>T	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689642	0.29962	.	.	ENSG00000197496	ENST00000359271	D	0.81821	-1.54	5.62	3.48	0.39840	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.534030	0.00892	N	0.002251	T	0.65176	0.2666	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54443	-0.8293	10	0.09084	T	0.74	0.0743	9.4042	0.38451	0.0:0.7204:0.0:0.2796	.	384	O95528	GTR10_HUMAN	L	384	ENSP00000352216:S384L	ENSP00000352216:S384L	S	+	2	0	SLC2A10	44788233	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-0.075000	0.11431	0.591000	0.29711	0.655000	0.94253	TCA		0.632	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2				12	57	0	0	0	0.00245	0	12	57		
TAF4	6874	broad.mit.edu	37	20	60575694	60575694	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:60575694G>A	ENST00000252996.4	-	10	2569	c.2570C>T	c.(2569-2571)tCt>tTt	p.S857F		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	857					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S857C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CACCAATTCAGAGTTCGTGGC	0.443																																						uc002ybs.2		NaN																	1	Substitution - Missense(1)		cervix(1)	ovary(2)|pancreas(1)	3						c.(2569-2571)TCT>TTT		TBP-associated factor 4							151.0	143.0	145.0					20																	60575694		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60575694G>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2570C>T	20.37:g.60575694G>A	ENSP00000252996:p.Ser857Phe						p.S857F	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		10	2570	-	Breast(26;1e-08)		857					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2570C>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481852	0.63849	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.29655	1.57;1.56	5.05	4.1	0.47936	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	M	0.77820	2.39	0.80722	D	1	D	0.57899	0.981	P	0.53490	0.727	T	0.55630	-0.8111	10	0.87932	D	0	-10.9112	13.4623	0.61233	0.0763:0.0:0.9237:0.0	.	857	O00268	TAF4_HUMAN	F	857;721	ENSP00000252996:S857F;ENSP00000399091:S721F	ENSP00000252996:S857F	S	-	2	0	TAF4	60009089	1.000000	0.71417	0.886000	0.34754	0.386000	0.30323	9.449000	0.97603	1.111000	0.41721	-0.258000	0.10820	TCT		0.443	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2		NM_003185		40	52	0	0	0	0.010771	0	40	52		
LAMA5	3911	broad.mit.edu	37	20	60900379	60900379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:60900379G>T	ENST00000252999.3	-	41	5588	c.5522C>A	c.(5521-5523)tCa>tAa	p.S1841*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1841	Laminin EGF-like 16; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CACCTGGCATGAGTCCCCCCG	0.677																																						uc002ycq.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5521-5523)TCA>TAA		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						28.0	27.0	27.0					20																	60900379		2200	4296	6496	SO:0001587	stop_gained	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60900379G>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5522C>A	20.37:g.60900379G>T	ENSP00000252999:p.Ser1841*						p.S1841*	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		41	5589	-	Breast(26;1.57e-08)		1841			Laminin EGF-like 16; second part.		Q8TDF8|Q8WZA7|Q9H1P1	Nonsense_Mutation	SNP	ENST00000252999.3	37	c.5522C>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	47	13.593741	0.99751	.	.	ENSG00000130702	ENST00000252999	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6041	0.88033	0.0:0.0:1.0:0.0	.	.	.	.	X	1841	.	ENSP00000252999:S1841X	S	-	2	0	LAMA5	60333774	1.000000	0.71417	0.978000	0.43139	0.942000	0.58702	9.702000	0.98712	2.137000	0.66172	0.650000	0.86243	TCA		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560		9	15	1	0	0.000978159	0.010729	0.00100754	9	15		
DIDO1	11083	broad.mit.edu	37	20	61541311	61541311	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:61541311C>T	ENST00000266070.4	-	4	1226	c.901G>A	c.(901-903)Gag>Aag	p.E301K	DIDO1_ENST00000395335.2_Missense_Mutation_p.E301K|DIDO1_ENST00000266071.5_Missense_Mutation_p.E301K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E301K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E301K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E301K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E301K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E301K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E301K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	301					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)					CCTCGAGCCTCAGAAATGCCC	0.453																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(901-903)GAG>AAG		death inducer-obliterator 1 isoform c							78.0	76.0	77.0					20																	61541311		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61541311C>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.901G>A	20.37:g.61541311C>T	ENSP00000266070:p.Glu301Lys					DIDO1_uc002yds.1_Missense_Mutation_p.E301K|DIDO1_uc002ydt.1_Missense_Mutation_p.E301K|DIDO1_uc002ydu.1_Missense_Mutation_p.E301K|DIDO1_uc002ydv.1_Missense_Mutation_p.E301K|DIDO1_uc002ydw.1_Missense_Mutation_p.E301K|DIDO1_uc002ydx.1_Missense_Mutation_p.E301K|DIDO1_uc011aao.1_Missense_Mutation_p.E301K	p.E301K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			4	1165	-	Breast(26;5.68e-08)		301			PHD-type.		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.901G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194628	0.78902	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.54	5.54	0.83059	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43579	D	0.000555	D	0.85885	0.5801	N	0.10645	0.015	0.80722	D	1	D;D;D;D	0.89917	1.0;0.976;1.0;0.999	D;P;D;D	0.83275	0.992;0.862;0.975;0.996	D	0.88902	0.3353	10	0.66056	D	0.02	-50.9074	19.8419	0.96692	0.0:1.0:0.0:0.0	.	301;301;301;301	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	K	301	ENSP00000266070:E301K;ENSP00000378752:E301K;ENSP00000378749:E301K;ENSP00000378744:E301K;ENSP00000359397:E301K;ENSP00000359394:E301K;ENSP00000346692:E301K;ENSP00000359391:E301K;ENSP00000266071:E301K	ENSP00000266070:E301K	E	-	1	0	DIDO1	61011756	1.000000	0.71417	0.993000	0.49108	0.252000	0.25951	7.666000	0.83877	2.767000	0.95098	0.561000	0.74099	GAG		0.453	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		25	63	0	0	0	0.010818	0	25	63		
ARFGAP1	55738	broad.mit.edu	37	20	61907473	61907473	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:61907473C>G	ENST00000370283.4	+	3	231	c.91C>G	c.(91-93)Cag>Gag	p.Q31E	ARFGAP1_ENST00000353546.3_Missense_Mutation_p.Q31E|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.Q31E|ARFGAP1_ENST00000547204.1_Intron	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	31	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GTTCAATCCTCAGTGGGTCAG	0.617																																						uc002yem.2		NaN																	0				pancreas(1)	1						c.(91-93)CAG>GAG		ADP-ribosylation factor GTPase activating							148.0	135.0	140.0					20																	61907473		2203	4300	6503	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61907473C>G	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.91C>G	20.37:g.61907473C>G	ENSP00000359306:p.Gln31Glu					ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Missense_Mutation_p.Q31E|ARFGAP1_uc002yen.2_Missense_Mutation_p.Q31E	p.Q31E	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			3	203	+	all_cancers(38;1.59e-09)		31			C4-type.|Arf-GAP.		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.91C>G	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577172	0.86645	.	.	ENSG00000101199	ENST00000370283;ENST00000523114;ENST00000370275;ENST00000353546;ENST00000522403;ENST00000550188	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.63082	0.2481	M	0.64404	1.975	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.996	D;D;P	0.77004	0.989;0.988;0.895	T	0.67654	-0.5615	10	0.87932	D	0	-24.6507	17.9471	0.89042	0.0:1.0:0.0:0.0	.	31;31;31	B7ZBI2;Q8N6T3;Q8N6T3-2	.;ARFG1_HUMAN;.	E	31	ENSP00000359306:Q31E;ENSP00000428355:Q31E;ENSP00000359298:Q31E;ENSP00000314615:Q31E;ENSP00000430929:Q31E;ENSP00000449515:Q31E	ENSP00000314615:Q31E	Q	+	1	0	ARFGAP1	61377918	1.000000	0.71417	0.989000	0.46669	0.952000	0.60782	7.555000	0.82223	2.310000	0.77875	0.462000	0.41574	CAG		0.617	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3		NM_018209		85	154	0	0	0	0.01441	0	85	154		
COL20A1	57642	broad.mit.edu	37	20	61936830	61936830	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:61936830G>C	ENST00000358894.6	+	4	355	c.255G>C	c.(253-255)ctG>ctC	p.L85L	COL20A1_ENST00000326996.6_Silent_p.L85L|COL20A1_ENST00000435874.1_Silent_p.L85L|COL20A1_ENST00000422202.1_Silent_p.L85L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	85	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGGGGGGCCTGAGCCCCTCCA	0.612																																						uc011aau.1		NaN																	0				central_nervous_system(1)	1						c.(253-255)CTG>CTC		collagen, type XX, alpha 1							35.0	39.0	38.0					20																	61936830		1934	4122	6056	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61936830G>C	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.255G>C	20.37:g.61936830G>C						COL20A1_uc011aav.1_5'Flank	p.L85L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			4	355	+	all_cancers(38;1.39e-10)		85			Fibronectin type-III 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.255G>C	CCDS46628.1																																																																																				0.612	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2		NM_020882		8	11	0	0	0	0.010729	0	8	11		
N6AMT1	29104	broad.mit.edu	37	21	30255367	30255367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:30255367G>A	ENST00000303775.5	-	2	186	c.161C>T	c.(160-162)tCa>tTa	p.S54L	N6AMT1_ENST00000351429.3_Missense_Mutation_p.S54L	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	54	S-adenosyl-L-methionine binding. {ECO:0000250}.				positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						ACCAGACCCTGACCCTACTTC	0.368																																						uc002ymo.1		NaN																	0					0						c.(160-162)TCA>TTA		N-6 adenine-specific DNA methyltransferase 1							87.0	78.0	81.0					21																	30255367		2203	4300	6503	SO:0001583	missense	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30255367G>A	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.161C>T	21.37:g.30255367G>A	ENSP00000303584:p.Ser54Leu					N6AMT1_uc002ymp.1_Missense_Mutation_p.S54L|N6AMT1_uc002ymq.1_RNA	p.S54L	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN			2	187	-			54			S-adenosyl-L-methionine binding (By similarity).		Q96F73	Missense_Mutation	SNP	ENST00000303775.5	37	c.161C>T	CCDS33526.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028145	0.75390	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.19532	2.46;2.14	5.34	5.34	0.76211	Methyltransferase small (1);	0.245804	0.41712	D	0.000836	T	0.51975	0.1706	M	0.93197	3.39	0.33618	D	0.60443	P;P	0.43169	0.8;0.71	P;P	0.56216	0.628;0.794	T	0.70568	-0.4836	10	0.66056	D	0.02	-9.8858	13.4951	0.61421	0.0:0.1567:0.8433:0.0	.	54;54	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	L	54	ENSP00000303584:S54L;ENSP00000286764:S54L	ENSP00000303584:S54L	S	-	2	0	N6AMT1	29177238	0.992000	0.36948	0.984000	0.44739	0.872000	0.50106	2.982000	0.49337	2.781000	0.95711	0.650000	0.86243	TCA		0.368	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1		NM_013240		11	52	0	0	0	0.004007	0	11	52		
SOD1	6647	broad.mit.edu	37	21	33036175	33036175	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:33036175C>G	ENST00000270142.6	+	2	293	c.145C>G	c.(145-147)Cat>Gat	p.H49D	SNORA81_ENST00000458922.1_RNA|AP000254.8_ENST00000609934.1_RNA|SOD1_ENST00000389995.4_Missense_Mutation_p.H30D|SOD1_ENST00000470944.1_3'UTR	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	49			H -> Q (in ALS1). {ECO:0000269|PubMed:8528216}.|H -> R (in ALS1). {ECO:0000269|PubMed:14506936}.		activation of MAPK activity (GO:0000187)|anterograde axon cargo transport (GO:0008089)|auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryo implantation (GO:0007566)|glutathione metabolic process (GO:0006749)|heart contraction (GO:0060047)|hydrogen peroxide biosynthetic process (GO:0050665)|locomotory behavior (GO:0007626)|muscle cell cellular homeostasis (GO:0046716)|myeloid cell homeostasis (GO:0002262)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament cytoskeleton organization (GO:0060052)|ovarian follicle development (GO:0001541)|peripheral nervous system myelin maintenance (GO:0032287)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cytokine production (GO:0001819)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of superoxide anion generation (GO:0032930)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of multicellular organism growth (GO:0040014)|regulation of organ growth (GO:0046620)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of T cell differentiation in thymus (GO:0033081)|relaxation of vascular smooth muscle (GO:0060087)|removal of superoxide radicals (GO:0019430)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to hydrogen peroxide (GO:0042542)|response to nutrient levels (GO:0031667)|response to organic substance (GO:0010033)|response to superoxide (GO:0000303)|retina homeostasis (GO:0001895)|retrograde axon cargo transport (GO:0008090)|sensory perception of sound (GO:0007605)|spermatogenesis (GO:0007283)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|thymus development (GO:0048538)|transmission of nerve impulse (GO:0019226)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|peroxisome (GO:0005777)|protein complex (GO:0043234)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein phosphatase 2B binding (GO:0030346)|Rac GTPase binding (GO:0048365)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(1)	4					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	ATTCCATGTTCATGAGTTTGG	0.448																																						uc002ypa.2		NaN																	0					0						c.(145-147)CAT>GAT		superoxide dismutase 1, soluble							234.0	197.0	209.0					21																	33036175		2203	4300	6503	SO:0001583	missense	6647				activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding	g.chr21:33036175C>G	AY049787, X02317	CCDS33536.1	21q22.11	2014-09-17	2008-07-31		ENSG00000142168	ENSG00000142168	1.15.1.1		11179	protein-coding gene	gene with protein product		147450	"""amyotrophic lateral sclerosis 1 (adult)"""	ALS, ALS1		8446170	Standard	NM_000454		Approved	IPOA	uc002ypa.3	P00441	OTTHUMG00000084878	ENST00000270142.6:c.145C>G	21.37:g.33036175C>G	ENSP00000270142:p.His49Asp					SOD1_uc002ypb.2_Missense_Mutation_p.H30D|SOD1_uc002ypc.2_RNA	p.H49D	NM_000454	NP_000445	P00441	SODC_HUMAN			2	293	+			49		H -> Q (in ALS1).|H -> R (in ALS1).		Copper; catalytic.	A6NHJ0|D3DSE4|Q16669|Q16711|Q16838|Q16839|Q16840|Q6NR85	Missense_Mutation	SNP	ENST00000270142.6	37	c.145C>G	CCDS33536.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599496	0.66332	.	.	ENSG00000142168	ENST00000270142;ENST00000389995	D;D	0.99887	-7.53;-7.53	4.93	4.93	0.64822	Superoxide dismutase, copper/zinc binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99947	0.9977	H	0.99955	5.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95816	0.8845	10	0.87932	D	0	-24.8556	18.6846	0.91559	0.0:1.0:0.0:0.0	.	49	P00441	SODC_HUMAN	D	49;30	ENSP00000270142:H49D;ENSP00000374645:H30D	ENSP00000270142:H49D	H	+	1	0	SOD1	31958046	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	7.096000	0.76960	2.715000	0.92844	0.650000	0.86243	CAT		0.448	SOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192585.2		NM_000454		37	140	0	0	0	0.01441	0	37	140		
SOD1	6647	broad.mit.edu	37	21	33039670	33039670	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:33039670C>T	ENST00000270142.6	+	4	487	c.339C>T	c.(337-339)atC>atT	p.I113I	SNORA81_ENST00000458922.1_RNA|AP000254.8_ENST00000609934.1_RNA|SOD1_ENST00000389995.4_Silent_p.I94I|SOD1_ENST00000470944.1_3'UTR	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	113			I -> M (in ALS1).|I -> T (in ALS1). {ECO:0000269|PubMed:7951252, ECO:0000269|PubMed:8528216}.		activation of MAPK activity (GO:0000187)|anterograde axon cargo transport (GO:0008089)|auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryo implantation (GO:0007566)|glutathione metabolic process (GO:0006749)|heart contraction (GO:0060047)|hydrogen peroxide biosynthetic process (GO:0050665)|locomotory behavior (GO:0007626)|muscle cell cellular homeostasis (GO:0046716)|myeloid cell homeostasis (GO:0002262)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament cytoskeleton organization (GO:0060052)|ovarian follicle development (GO:0001541)|peripheral nervous system myelin maintenance (GO:0032287)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cytokine production (GO:0001819)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of superoxide anion generation (GO:0032930)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of multicellular organism growth (GO:0040014)|regulation of organ growth (GO:0046620)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of T cell differentiation in thymus (GO:0033081)|relaxation of vascular smooth muscle (GO:0060087)|removal of superoxide radicals (GO:0019430)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to hydrogen peroxide (GO:0042542)|response to nutrient levels (GO:0031667)|response to organic substance (GO:0010033)|response to superoxide (GO:0000303)|retina homeostasis (GO:0001895)|retrograde axon cargo transport (GO:0008090)|sensory perception of sound (GO:0007605)|spermatogenesis (GO:0007283)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|thymus development (GO:0048538)|transmission of nerve impulse (GO:0019226)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|peroxisome (GO:0005777)|protein complex (GO:0043234)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein phosphatase 2B binding (GO:0030346)|Rac GTPase binding (GO:0048365)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(1)	4					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	ACCATTGCATCATTGGCCGCA	0.428																																						uc002ypa.2		NaN																	0					0	GRCh37	CM983783	SOD1	M		c.(337-339)ATC>ATT		superoxide dismutase 1, soluble							212.0	179.0	190.0					21																	33039670		2203	4300	6503	SO:0001819	synonymous_variant	6647				activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding	g.chr21:33039670C>T	AY049787, X02317	CCDS33536.1	21q22.11	2014-09-17	2008-07-31		ENSG00000142168	ENSG00000142168	1.15.1.1		11179	protein-coding gene	gene with protein product		147450	"""amyotrophic lateral sclerosis 1 (adult)"""	ALS, ALS1		8446170	Standard	NM_000454		Approved	IPOA	uc002ypa.3	P00441	OTTHUMG00000084878	ENST00000270142.6:c.339C>T	21.37:g.33039670C>T						SOD1_uc002ypb.2_Silent_p.I94I|SOD1_uc002ypc.2_RNA	p.I113I	NM_000454	NP_000445	P00441	SODC_HUMAN			4	487	+			113		I -> M (in ALS1).|I -> T (in ALS1).			A6NHJ0|D3DSE4|Q16669|Q16711|Q16838|Q16839|Q16840|Q6NR85	Silent	SNP	ENST00000270142.6	37	c.339C>T	CCDS33536.1																																																																																				0.428	SOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192585.2		NM_000454		21	165	0	0	0	0.007291	0	21	165		
SON	6651	broad.mit.edu	37	21	34927106	34927106	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:34927106C>T	ENST00000356577.4	+	3	6044	c.5569C>T	c.(5569-5571)Cat>Tat	p.H1857Y	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.H1857Y|SON_ENST00000290239.6_Missense_Mutation_p.H1857Y|SON_ENST00000300278.4_Missense_Mutation_p.H1857Y	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1857					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GTCCAAGTCTCATCGCTCTCA	0.448																																						uc002yse.1		NaN																	0				ovary(4)|skin(2)	6						c.(5569-5571)CAT>TAT		SON DNA-binding protein isoform F							84.0	83.0	83.0					21																	34927106		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34927106C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5569C>T	21.37:g.34927106C>T	ENSP00000348984:p.His1857Tyr					SON_uc002ysb.1_Missense_Mutation_p.H1857Y|SON_uc002ysc.2_Missense_Mutation_p.H1857Y|SON_uc002ysd.2_Missense_Mutation_p.H848Y|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.H848Y	p.H1857Y	NM_138927	NP_620305	P18583	SON_HUMAN			3	5618	+			1857					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5569C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126038	0.37533	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.67865	-0.29;-0.29;-0.29;2.26	5.41	4.52	0.55395	.	0.270493	0.26553	N	0.023723	T	0.56834	0.2012	N	0.08118	0	0.30417	N	0.77847	P;P;P;P;D	0.54207	0.955;0.837;0.955;0.898;0.965	P;B;B;P;P	0.51229	0.564;0.255;0.44;0.536;0.663	T	0.63310	-0.6666	10	0.62326	D	0.03	.	14.2721	0.66157	0.0:0.7164:0.2836:0.0	.	1857;1857;1538;1857;1857	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	Y	1857	ENSP00000348984:H1857Y;ENSP00000290239:H1857Y;ENSP00000300278:H1857Y;ENSP00000371095:H1857Y	ENSP00000290239:H1857Y	H	+	1	0	SON	33848976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.285000	0.58989	1.262000	0.44165	0.655000	0.94253	CAT		0.448	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2		NM_138927		22	77	0	0	0	0.005443	0	22	77		
DOPEY2	9980	broad.mit.edu	37	21	37603182	37603182	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:37603182C>G	ENST00000399151.3	+	14	2185	c.2100C>G	c.(2098-2100)ttC>ttG	p.F700L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	700					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGACTTGTTCACAGCACGAG	0.542																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2098-2100)TTC>TTG		pad-1-like							78.0	68.0	71.0					21																	37603182		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37603182C>G	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2100C>G	21.37:g.37603182C>G	ENSP00000382104:p.Phe700Leu					DOPEY2_uc011aeb.1_Missense_Mutation_p.F700L	p.F700L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			14	2179	+			700					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.2100C>G	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518793	0.44763	.	.	ENSG00000142197	ENST00000399151	T	0.12569	2.67	5.43	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	M	0.63843	1.955	0.51767	D	0.999939	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.993	T	0.01814	-1.1268	10	0.24483	T	0.36	.	12.1391	0.53989	0.0:0.8605:0.0:0.1395	.	700;700	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	L	700	ENSP00000382104:F700L	ENSP00000382104:F700L	F	+	3	2	DOPEY2	36525052	1.000000	0.71417	0.901000	0.35422	0.022000	0.10575	2.595000	0.46197	0.788000	0.33755	0.491000	0.48974	TTC		0.542	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		8	81	0	0	0	0.004482	0	8	81		
HLCS	3141	broad.mit.edu	37	21	38126702	38126702	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:38126702G>C	ENST00000399120.1	-	12	3256	c.2026C>G	c.(2026-2028)Ctg>Gtg	p.L676V	HLCS_ENST00000336648.4_Missense_Mutation_p.L676V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	676					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GCGCTGCCCAGATGGACTTGC	0.557																																						uc010gnb.2		NaN																	0				ovary(2)|breast(1)|kidney(1)|liver(1)	5						c.(2026-2028)CTG>GTG		holocarboxylase synthetase	Biotin(DB00121)						66.0	50.0	55.0					21																	38126702		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38126702G>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.2026C>G	21.37:g.38126702G>C	ENSP00000382071:p.Leu676Val					HLCS_uc002yvs.2_Missense_Mutation_p.L676V	p.L676V	NM_000411	NP_000402	P50747	BPL1_HUMAN			11	3227	-		Myeloproliferative disorder(46;0.0422)	676					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.2026C>G	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879458	0.51801	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	T;T	0.78003	-1.14;-1.14	6.17	6.17	0.99709	Biotin protein ligase, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.85305	0.5666	M	0.64567	1.98	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	T	0.83027	-0.0164	10	0.36615	T	0.2	.	14.9567	0.71120	0.0674:0.0:0.9326:0.0	.	676	P50747	BPL1_HUMAN	V	676	ENSP00000382071:L676V;ENSP00000338387:L676V	ENSP00000338387:L676V	L	-	1	2	HLCS	37048572	1.000000	0.71417	0.972000	0.41901	0.098000	0.18820	6.011000	0.70760	2.941000	0.99782	0.655000	0.94253	CTG		0.557	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2				12	41	0	0	0	0.006122	0	12	41		
TTC3	7267	broad.mit.edu	37	21	38463619	38463619	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:38463619G>C	ENST00000399017.2	+	7	3254	c.507G>C	c.(505-507)ctG>ctC	p.L169L	TTC3_ENST00000355666.1_Silent_p.L169L|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Silent_p.L169L|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Silent_p.L169L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	169					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGAAGCTCTGAATTGGATAA	0.308																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NaN																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(505-507)CTG>CTC		tetratricopeptide repeat domain 3							63.0	63.0	63.0					21																	38463619		2203	4298	6501	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38463619G>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.507G>C	21.37:g.38463619G>C						TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.L169L|TTC3_uc002ywb.2_Silent_p.L169L|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.L169L	p.L169L	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			7	612	+		Myeloproliferative disorder(46;0.0412)	169					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.507G>C	CCDS13651.1																																																																																				0.308	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1				11	68	0	0	0	0.00245	0	11	68		
BRWD1	54014	broad.mit.edu	37	21	40627734	40627734	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:40627734C>G	ENST00000333229.2	-	19	2419	c.2092G>C	c.(2092-2094)Gac>Cac	p.D698H	BRWD1_ENST00000342449.3_Missense_Mutation_p.D698H|BRWD1_ENST00000380800.3_Missense_Mutation_p.D698H	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	698					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GACTGAATGTCTAAGCTCAGC	0.418																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(2092-2094)GAC>CAC		bromodomain and WD repeat domain containing 1							82.0	69.0	74.0					21																	40627734		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40627734C>G	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2092G>C	21.37:g.40627734C>G	ENSP00000330753:p.Asp698His					BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.D698H|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.D151H|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_Intron|BRWD1_uc010goi.1_Missense_Mutation_p.D418H	p.D698H	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			19	2231	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	698					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.2092G>C	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.731286|4.731286	0.89390|0.89390	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.58358|.	0.34;0.36;0.44|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.067625|.	0.64402|.	D|.	0.000014|.	T|T	0.74581|0.74581	0.3735|0.3735	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.71674|.	0.958;0.953;0.987;0.998|.	P;P;P;D|.	0.62955|.	0.65;0.738;0.881;0.909|.	T|T	0.71279|0.71279	-0.4640|-0.4640	10|5	0.72032|.	D|.	0.01|.	-3.9907|-3.9907	19.8437|19.8437	0.96701|0.96701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	409;409;698;698|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	H|T	698|409	ENSP00000330753:D698H;ENSP00000344333:D698H;ENSP00000370178:D698H|.	ENSP00000330753:D698H|.	D|R	-|-	1|2	0|0	BRWD1|BRWD1	39549604|39549604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	7.340000|7.340000	0.79292|0.79292	2.693000|2.693000	0.91896|0.91896	0.585000|0.585000	0.79938|0.79938	GAC|AGA		0.418	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		14	65	0	0	0	0.003163	0	14	65		
TSPEAR	54084	broad.mit.edu	37	21	45948429	45948429	+	Silent	SNP	C	C	T	rs371022077		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:45948429C>T	ENST00000323084.4	-	6	893	c.828G>A	c.(826-828)ccG>ccA	p.P276P	TSPEAR_ENST00000397916.1_Silent_p.P208P	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	276	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCTCGGTACACGGTGGCTGGG	0.577																																						uc002zfe.1		NaN																	0					0						c.(826-828)CCG>CCA		chromosome 21 open reading frame 29 precursor		C		1,4405	2.1+/-5.4	0,1,2202	126.0	103.0	111.0		828	-10.2	0.0	21		111	0,8600		0,0,4300	no	coding-synonymous	TSPEAR	NM_144991.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		276/670	45948429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45948429C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.828G>A	21.37:g.45948429C>T						C21orf29_uc010gpv.1_Silent_p.P208P	p.P276P	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			6	894	-			276						Silent	SNP	ENST00000323084.4	37	c.828G>A	CCDS13712.1																																																																																				0.577	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1		NM_144991		27	25	0	0	0	0.005443	0	27	25		
KRTAP12-4	386684	broad.mit.edu	37	21	46074247	46074247	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:46074247G>C	ENST00000391618.1	-	1	329	c.285C>G	c.(283-285)ttC>ttG	p.F95L	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	95	15 X 5 AA approximate repeats.					keratin filament (GO:0045095)				lung(4)|ovary(1)|prostate(1)	6						GGGTGGGGCAGAAGGGCTGGC	0.632																																						uc002zfs.1		NaN																	0				ovary(1)	1						c.(283-285)TTC>TTG		keratin associated protein 12-4							37.0	45.0	42.0					21																	46074247		2130	4249	6379	SO:0001583	missense	386684					keratin filament		g.chr21:46074247G>C	AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"""Keratin associated proteins"""	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.285C>G	21.37:g.46074247G>C	ENSP00000375476:p.Phe95Leu					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.F95L	NM_198698	NP_941971	P60329	KR124_HUMAN			1	330	-			95			15 X 5 AA approximate repeats.|14.		Q08AF5	Missense_Mutation	SNP	ENST00000391618.1	37	c.285C>G	CCDS42963.1	.	.	.	.	.	.	.	.	.	.	g	1.465	-0.561315	0.03939	.	.	ENSG00000212933	ENST00000391618	T	0.01572	4.76	3.72	-0.492	0.12041	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47071	-0.9145	9	0.59425	D	0.04	.	4.1551	0.10256	0.3164:0.1712:0.5123:0.0	.	95	P60329	KR124_HUMAN	L	95	ENSP00000375476:F95L	ENSP00000375476:F95L	F	-	3	2	KRTAP12-4	44898675	0.920000	0.31207	0.302000	0.25058	0.004000	0.04260	0.377000	0.20552	-0.235000	0.09767	-0.373000	0.07131	TTC		0.632	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128036.1				6	31	0	0	0	0.001168	0	6	31		
GNB1L	54584	broad.mit.edu	37	22	19808787	19808787	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:19808787C>G	ENST00000329517.6	-	3	328	c.92G>C	c.(91-93)gGa>gCa	p.G31A	GNB1L_ENST00000405009.1_Missense_Mutation_p.G31A|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.G31A	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	31					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AGCCTGGGCTCCTTCGCAGAA	0.687																																						uc002zqe.1		NaN																	0				breast(1)	1						c.(91-93)GGA>GCA		guanine nucleotide binding protein							51.0	62.0	58.0					22																	19808787		2203	4300	6503	SO:0001583	missense	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19808787C>G	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.92G>C	22.37:g.19808787C>G	ENSP00000331313:p.Gly31Ala					GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Missense_Mutation_p.G31A	p.G31A	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN			2	486	-	Colorectal(54;0.0993)		31			WD 1.		Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.92G>C	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.900363	0.00517	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009;ENST00000453108	T;T;T;T	0.60040	0.22;0.22;0.22;0.58	5.03	1.63	0.23807	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.317820	0.05302	N	0.523122	T	0.48607	0.1509	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.43540	-0.9385	10	0.59425	D	0.04	-16.4751	8.8972	0.35472	0.0:0.4642:0.4516:0.0842	.	31	Q9BYB4	GNB1L_HUMAN	A	31	ENSP00000331313:G31A;ENSP00000385154:G31A;ENSP00000384626:G31A;ENSP00000389412:G31A	ENSP00000331313:G31A	G	-	2	0	GNB1L	18188787	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	0.115000	0.15540	0.464000	0.27142	0.313000	0.20887	GGA		0.687	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1				18	71	0	0	0	0.008871	0	18	71		
SMARCB1	6598	broad.mit.edu	37	22	24175882	24175882	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:24175882G>T	ENST00000263121.7	+	8	1306	c.1110G>T	c.(1108-1110)agG>agT	p.R370S	SMARCB1_ENST00000407082.3_Missense_Mutation_p.R324S|SMARCB1_ENST00000407422.3_Missense_Mutation_p.R361S|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000344921.6_Missense_Mutation_p.R379S	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	370					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACCAGGACAGGAACACGAGGT	0.622			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																uc002zyb.2		NaN	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	D|N|F|S	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid 		3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.L266_*386del(1)	central_nervous_system(3)	soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407						c.(1108-1110)AGG>AGT		SWI/SNF related, matrix associated, actin							114.0	98.0	103.0					22																	24175882		2203	4300	6503	SO:0001583	missense	6598	Rhabdoid_Predisposition_syndrome|Schwannomatosis			cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24175882G>T	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1110G>T	22.37:g.24175882G>T	ENSP00000263121:p.Arg370Ser					SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.R361S|SMARCB1_uc002zyd.2_Missense_Mutation_p.R379S	p.R370S	NM_003073	NP_003064	Q12824	SNF5_HUMAN			8	1317	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	370					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.1110G>T	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607137	0.66558	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	4.76	1.54	0.23209	.	0.046658	0.85682	D	0.000000	D	0.90714	0.7086	M	0.94142	3.5	0.80722	D	1	D;D;D	0.64830	0.994;0.987;0.994	P;P;P	0.61592	0.891;0.842;0.883	D	0.89488	0.3755	10	0.87932	D	0	-33.6494	7.3584	0.26731	0.3685:0.0:0.6315:0.0	.	379;361;370	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	S	379;370;361;324	ENSP00000340883:R379S;ENSP00000263121:R370S;ENSP00000383984:R361S;ENSP00000385226:R324S	ENSP00000263121:R370S	R	+	3	2	SMARCB1	22505882	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.818000	0.27295	0.568000	0.29311	0.543000	0.68304	AGG		0.622	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1		NM_003073		17	38	1	0	1.15919e-05	0.008871	1.20464e-05	17	38		
HSCB	150274	broad.mit.edu	37	22	29138168	29138168	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:29138168G>T	ENST00000216027.3	+	1	150	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	CHEK2_ENST00000382580.2_5'Flank|CHEK2_ENST00000382566.1_5'Flank|CHEK2_ENST00000348295.3_5'Flank|CHEK2_ENST00000382565.1_5'Flank|CHEK2_ENST00000544772.1_5'UTR|HSCB_ENST00000398941.2_Missense_Mutation_p.D29Y|CHEK2_ENST00000382578.1_5'Flank|CHEK2_ENST00000328354.6_5'Flank|CHEK2_ENST00000405598.1_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	29					iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						GCTAAGCTGCGATGCTGCGTC	0.682																																						uc003aea.2		NaN																	0				kidney(1)	1						c.(85-87)GAT>TAT		J-type co-chaperone HSC20 precursor							19.0	21.0	20.0					22																	29138168		2203	4299	6502	SO:0001583	missense	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29138168G>T	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.85G>T	22.37:g.29138168G>T	ENSP00000216027:p.Asp29Tyr					CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adw.1_5'Flank|CHEK2_uc003adx.1_5'Flank|CHEK2_uc003ady.1_5'Flank|CHEK2_uc003adz.1_5'Flank	p.D29Y	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN			1	126	+			29					Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	c.85G>T	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609454	0.46527	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	T;T	0.44482	1.5;0.92	5.4	-2.39	0.06602	.	0.846328	0.11035	N	0.606759	T	0.17195	0.0413	N	0.08118	0	0.21652	N	0.999608	P	0.34724	0.465	B	0.26202	0.067	T	0.09271	-1.0682	10	0.54805	T	0.06	-3.3896	6.5837	0.22609	0.2572:0.3955:0.3472:0.0	.	29	Q8IWL3	HSC20_HUMAN	Y	29	ENSP00000216027:D29Y;ENSP00000381914:D29Y	ENSP00000216027:D29Y	D	+	1	0	HSCB	27468168	0.000000	0.05858	0.571000	0.28486	0.191000	0.23601	-0.309000	0.08145	-0.733000	0.04850	0.561000	0.74099	GAT		0.682	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1		NM_172002		3	12	1	0	0.00909568	0.009096	0.00928683	3	12		
TBC1D10A	83874	broad.mit.edu	37	22	30722721	30722721	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:30722721G>T	ENST00000215790.7	-	1	314	c.150C>A	c.(148-150)ttC>ttA	p.F50L	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.F50L|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	50					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.F50F(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGCGCTCGGCGAAGCCGTTGG	0.711																																						uc011akt.1		NaN																	1	Substitution - coding silent(1)		cervix(1)	ovary(1)	1						c.(148-150)TTC>TTA		TBC1 domain family, member 10A							23.0	29.0	27.0					22																	30722721		2202	4291	6493	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30722721G>T	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.150C>A	22.37:g.30722721G>T	ENSP00000215790:p.Phe50Leu					TBC1D10A_uc010gvu.2_Missense_Mutation_p.F50L|TBC1D10A_uc003ahk.3_Missense_Mutation_p.F50L	p.F50L	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			1	174	-			50					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.150C>A	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672013	0.29693	.	.	ENSG00000099992	ENST00000215790;ENST00000403477	T;T	0.14516	2.5;3.6	4.13	-1.1	0.09872	.	0.640761	0.15537	N	0.257176	T	0.05547	0.0146	N	0.16602	0.42	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.003;0.004	T	0.39860	-0.9593	10	0.07482	T	0.82	.	5.4	0.16291	0.2513:0.1429:0.6058:0.0	.	50;50;50	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	L	50	ENSP00000215790:F50L;ENSP00000384996:F50L	ENSP00000215790:F50L	F	-	3	2	TBC1D10A	29052721	0.927000	0.31430	0.999000	0.59377	0.929000	0.56500	0.230000	0.17852	0.016000	0.14998	-0.488000	0.04728	TTC		0.711	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1		NM_031937		19	32	1	0	2.41591e-17	0.004656	2.70861e-17	19	32		
SEC14L3	266629	broad.mit.edu	37	22	30860840	30860840	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:30860840C>T	ENST00000215812.4	-	8	721	c.631G>A	c.(631-633)Gag>Aag	p.E211K	SEC14L3_ENST00000402286.1_Missense_Mutation_p.E134K|SEC14L3_ENST00000401751.1_Missense_Mutation_p.E152K|SEC14L3_ENST00000415957.2_Missense_Mutation_p.E152K|SEC14L3_ENST00000403066.1_Missense_Mutation_p.E152K|SEC14L3_ENST00000539629.1_Missense_Mutation_p.E152K|SEC14L3_ENST00000540910.1_Missense_Mutation_p.E134K	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	211	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGAGTGTCCTCACTCAGGAAT	0.448																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	uc003ahy.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(631-633)GAG>AAG		SEC14-like 3	Vitamin E(DB00163)						175.0	152.0	160.0					22																	30860840		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30860840C>T	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.631G>A	22.37:g.30860840C>T	ENSP00000215812:p.Glu211Lys					SEC14L3_uc003ahz.2_Missense_Mutation_p.E134K|SEC14L3_uc003aia.2_Missense_Mutation_p.E152K|SEC14L3_uc003aib.2_Missense_Mutation_p.E152K	p.E211K	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN			8	720	-			211			CRAL-TRIO.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.631G>A	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115424	0.94339	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;1.6;0.1;0.1;1.6	5.5	5.5	0.81552	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.78637	2.42	0.80722	D	1	D;P	0.89917	1.0;0.916	D;P	0.76071	0.987;0.757	T	0.80254	-0.1459	10	0.87932	D	0	-32.1186	19.0035	0.92842	0.0:1.0:0.0:0.0	.	134;211	E9PE57;Q9UDX4	.;S14L3_HUMAN	K	152;152;211;134;152;152;134	ENSP00000385941:E152K;ENSP00000401864:E152K;ENSP00000215812:E211K;ENSP00000385004:E134K;ENSP00000383896:E152K;ENSP00000444691:E152K;ENSP00000439752:E134K	ENSP00000215812:E211K	E	-	1	0	SEC14L3	29190840	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.396000	0.79891	2.593000	0.87608	0.655000	0.94253	GAG		0.448	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4		NM_174975		60	121	0	0	0	0.01441	0	60	121		
MAFF	23764	broad.mit.edu	37	22	38609853	38609853	+	5'UTR	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:38609853C>A	ENST00000338483.2	+	0	355				MAFF_ENST00000407965.1_5'UTR|MAFF_ENST00000538999.1_Intron|MAFF_ENST00000538320.1_5'UTR|MAFF_ENST00000426621.2_5'UTR			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F						blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|skin(1)	3	Melanoma(58;0.045)					AGGGCACCTTCTGCAAACATG	0.502																																						uc011anp.1		NaN																	0					0						c.(-9--5)TTCTG>TTATG		transcription factor MAFF isoform a							126.0	106.0	113.0					22																	38609853		2203	4300	6503	SO:0001623	5_prime_UTR_variant	23764				blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:38609853C>A	AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022			6780	protein-coding gene	gene with protein product		604877				10591208	Standard	NM_012323		Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.-8C>A	22.37:g.38609853C>A						MAFF_uc003avc.2_Translation_Start_Site|MAFF_uc011anq.1_Intron|MAFF_uc011anr.1_Translation_Start_Site|MAFF_uc003avd.2_Missense_Mutation_p.F47L		NM_001161572	NP_001155044	Q9ULX9	MAFF_HUMAN			2	331	+	Melanoma(58;0.045)							B4DV49|Q9Y525	Translation_Start_Site	SNP	ENST00000338483.2	37	c.-7C>A	CCDS13968.1																																																																																				0.502	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1		NM_001161572		33	69	1	0	2.19962e-31	0.00874	2.56476e-31	33	69		
TNRC6B	23112	broad.mit.edu	37	22	40661039	40661039	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:40661039C>G	ENST00000454349.2	+	5	1016	c.805C>G	c.(805-807)Caa>Gaa	p.Q269E	TNRC6B_ENST00000335727.9_Missense_Mutation_p.Q269E|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	269	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TAAATCTGTTCAATCTTCCAA	0.453																																						uc011aor.1		NaN																	0					0						c.(805-807)CAA>GAA		trinucleotide repeat containing 6B isoform 1							109.0	105.0	106.0					22																	40661039		1896	4128	6024	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40661039C>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.805C>G	22.37:g.40661039C>G	ENSP00000401946:p.Gln269Glu					TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.Q269E|TNRC6B_uc003ayo.2_Missense_Mutation_p.Q73E	p.Q269E	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			5	1016	+			269					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.805C>G	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.141|0.141	-1.101970|-1.101970	0.01828|0.01828	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000454349;ENST00000400140;ENST00000335727	.|T;T	.|0.45276	.|0.9;0.9	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|0.397990	.|0.26804	.|N	.|0.022410	T|T	0.27454|0.27454	0.0674|0.0674	N|N	0.19112|0.19112	0.55|0.55	0.38617|0.38617	D|D	0.951056|0.951056	.|B;B;B	.|0.22146	.|0.002;0.039;0.065	.|B;B;B	.|0.24155	.|0.004;0.01;0.051	T|T	0.12041|0.12041	-1.0563|-1.0563	5|10	.|0.02654	.|T	.|1	-0.0573|-0.0573	17.1571|17.1571	0.86794|0.86794	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|269;269;269	.|Q9UPQ9;A8MYY3;Q9UPQ9-1	.|TNR6B_HUMAN;.;.	L|E	11|269	.|ENSP00000401946:Q269E;ENSP00000338371:Q269E	.|ENSP00000338371:Q269E	F|Q	+|+	3|1	2|0	TNRC6B|TNRC6B	38990985|38990985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.594000|5.594000	0.67557|0.67557	2.281000|2.281000	0.76405|0.76405	0.650000|0.650000	0.86243|0.86243	TTC|CAA		0.453	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding					8	64	0	0	0	0.00308	0	8	64		
TNRC6B	23112	broad.mit.edu	37	22	40662821	40662821	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:40662821C>T	ENST00000454349.2	+	5	2798	c.2587C>T	c.(2587-2589)Cag>Tag	p.Q863*	TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.Q863*|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	863	Interaction with argonaute proteins.|Pro-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CAGCGGGCCACAGCCTGCAAC	0.582																																						uc011aor.1		NaN																	0					0						c.(2587-2589)CAG>TAG		trinucleotide repeat containing 6B isoform 1							34.0	37.0	36.0					22																	40662821		2118	4241	6359	SO:0001587	stop_gained	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662821C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2587C>T	22.37:g.40662821C>T	ENSP00000401946:p.Gln863*					TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.Q863*|TNRC6B_uc003ayo.2_Nonsense_Mutation_p.Q667*	p.Q863*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			5	2798	+			863			Pro-rich.		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000454349.2	37	c.2587C>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	42	9.800959	0.99267	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	.	.	.	5.46	5.46	0.80206	.	0.273738	0.39146	N	0.001453	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-2.9268	19.2872	0.94084	0.0:1.0:0.0:0.0	.	.	.	.	X	863	.	ENSP00000338371:Q863X	Q	+	1	0	TNRC6B	38992767	1.000000	0.71417	0.985000	0.45067	0.913000	0.54294	5.717000	0.68446	2.561000	0.86390	0.561000	0.74099	CAG		0.582	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding					6	23	0	0	0	0.001984	0	6	23		
CHKB	1120	broad.mit.edu	37	22	51019955	51019955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:51019955G>A	ENST00000406938.2	-	4	692	c.475C>T	c.(475-477)Cga>Tga	p.R159*	CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CHKB_ENST00000463053.1_5'UTR|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000457250.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	159					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	ACTGGCTCTCGAAGCTCTTGA	0.572																																						uc003bms.2		NaN																	0					0						c.(475-477)CGA>TGA		choline kinase beta	Choline(DB00122)						61.0	54.0	57.0					22																	51019955		2203	4300	6503	SO:0001587	stop_gained	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51019955G>A	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.475C>T	22.37:g.51019955G>A	ENSP00000384400:p.Arg159*					CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Intron|CHKB-CPT1B_uc003bmu.2_Nonsense_Mutation_p.R38*|CHKB_uc003bmv.2_Nonsense_Mutation_p.R159*|LOC100144603_uc003bmw.3_5'Flank	p.R159*	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	4	693	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	159					A0PJM6|Q13388	Nonsense_Mutation	SNP	ENST00000406938.2	37	c.475C>T	CCDS14099.1	.	.	.	.	.	.	.	.	.	.	G	36	5.969801	0.97156	.	.	ENSG00000100288	ENST00000406938	.	.	.	4.94	2.7	0.31948	.	0.556823	0.18449	N	0.140900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.9416	11.0367	0.47804	0.0:0.0:0.5364:0.4636	.	.	.	.	X	159	.	ENSP00000384400:R159X	R	-	1	2	CHKB	49366821	0.000000	0.05858	0.996000	0.52242	0.996000	0.88848	0.622000	0.24433	1.264000	0.44198	0.561000	0.74099	CGA		0.572	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3		NM_005198		11	35	0	0	0	0.001855	0	11	35		
RPUSD3	285367	broad.mit.edu	37	3	9885243	9885243	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:9885243G>C	ENST00000383820.5	-	2	169	c.168C>G	c.(166-168)ccC>ccG	p.P56P	RPUSD3_ENST00000424438.1_Silent_p.P24P|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000485705.1_5'UTR|RPUSD3_ENST00000433535.2_Silent_p.P56P	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	56					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					GGTCCCCGAGGGGCCCCGACC	0.657																																						uc011atk.1		NaN																	0				central_nervous_system(1)	1						c.(166-168)CCC>CCG		RNA pseudouridylate synthase domain containing 3							21.0	25.0	23.0					3																	9885243		2203	4298	6501	SO:0001819	synonymous_variant	285367				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr3:9885243G>C	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"""RNA pseudouridylate synthase domain containing"""	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.168C>G	3.37:g.9885243G>C						ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Silent_p.P56P|RPUSD3_uc011atm.1_Silent_p.P48P|RPUSD3_uc003btn.2_Silent_p.P48P	p.P56P	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN			2	172	-	Medulloblastoma(99;0.227)		56					B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Silent	SNP	ENST00000383820.5	37	c.168C>G	CCDS2586.2	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867785	0.32977	.	.	ENSG00000156990	ENST00000427174	T	0.50813	0.73	4.76	-0.517	0.11947	.	1.660490	0.02942	N	0.140635	T	0.30759	0.0775	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.08006	-1.0743	7	0.29301	T	0.29	.	1.7157	0.02901	0.1835:0.3171:0.3465:0.1529	.	.	.	.	R	47	ENSP00000400397:P47R	ENSP00000400397:P47R	P	-	2	0	RPUSD3	9860243	0.000000	0.05858	0.000000	0.03702	0.598000	0.36846	0.169000	0.16641	-0.206000	0.10203	-0.140000	0.14226	CCC		0.657	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250238.1		NM_173659		11	23	0	0	0	0.013537	0	11	23		
EFHB	151651	broad.mit.edu	37	3	19925987	19925987	+	Missense_Mutation	SNP	C	C	T	rs142916632	byFrequency	TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:19925987C>T	ENST00000295824.9	-	11	2215	c.2054G>A	c.(2053-2055)cGg>cAg	p.R685Q	EFHB_ENST00000344838.4_Missense_Mutation_p.R555Q	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	685				R -> W (in Ref. 1; BAC85491). {ECO:0000305}.			calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CAGAAGTGTCCGGAGAGTCTT	0.398																																						uc003cbl.3		NaN																	0					0						c.(2053-2055)CGG>CAG		EF hand domain family, member B		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	125.0	128.0	127.0		2054	3.1	1.0	3	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense	EFHB	NM_144715.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	685/834	19925987	2,13004	2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19925987C>T	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2054G>A	3.37:g.19925987C>T	ENSP00000295824:p.Arg685Gln					EFHB_uc003cbm.2_Missense_Mutation_p.R555Q	p.R685Q	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			11	2250	-			685	R -> W (in Ref. 1; BAC85491).				A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.2054G>A	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123124	0.37436	2.27E-4	1.16E-4	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.28666	1.6;1.68	5.92	3.08	0.35506	.	0.345521	0.28453	N	0.015281	T	0.22666	0.0547	M	0.63428	1.95	0.33061	D	0.53405	P;D	0.53885	0.89;0.963	B;B	0.36335	0.222;0.187	T	0.41627	-0.9498	9	.	.	.	-3.5935	5.4063	0.16323	0.167:0.6227:0.0:0.2103	.	555;685	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	Q	685;555	ENSP00000295824:R685Q;ENSP00000342263:R555Q	.	R	-	2	0	EFHB	19900991	0.916000	0.31088	0.985000	0.45067	0.173000	0.22820	1.438000	0.35002	1.462000	0.47948	0.650000	0.86243	CGG		0.398	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2		NM_144715		13	32	0	0	0	0.004007	0	13	32		
NR1D2	9975	broad.mit.edu	37	3	24003672	24003672	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:24003672C>T	ENST00000312521.4	+	5	1041	c.722C>T	c.(721-723)tCt>tTt	p.S241F	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	241	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ATCAAAAGCTCTTCTCCTCCA	0.448																																						uc003ccs.2		NaN																	0				urinary_tract(1)|kidney(1)|skin(1)	3						c.(721-723)TCT>TTT		nuclear receptor subfamily 1, group D, member 2							91.0	71.0	78.0					3																	24003672		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24003672C>T	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.722C>T	3.37:g.24003672C>T	ENSP00000310006:p.Ser241Phe					NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.S166F	p.S241F	NM_005126	NP_005117	Q14995	NR1D2_HUMAN			5	1041	+			241					B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.722C>T	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747400	0.49257	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.92647	-3.08	5.59	4.72	0.59763	.	0.571787	0.20104	N	0.099180	D	0.89431	0.6713	N	0.19112	0.55	0.36012	D	0.83812	P	0.36944	0.574	P	0.45946	0.498	D	0.91761	0.5420	10	0.56958	D	0.05	.	14.2504	0.66016	0.0:0.928:0.0:0.072	.	241	Q14995	NR1D2_HUMAN	F	241	ENSP00000310006:S241F	ENSP00000310006:S241F	S	+	2	0	NR1D2	23978676	0.990000	0.36364	1.000000	0.80357	0.812000	0.45895	4.747000	0.62141	1.365000	0.46057	0.563000	0.77884	TCT		0.448	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3				14	32	0	0	0	0.004007	0	14	32		
NR1D2	9975	broad.mit.edu	37	3	24003755	24003755	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:24003755C>G	ENST00000312521.4	+	5	1124	c.805C>G	c.(805-807)Caa>Gaa	p.Q269E	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	269	Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TATGTATAATCAAGAGCAGCA	0.423																																						uc003ccs.2		NaN																	0				urinary_tract(1)|kidney(1)|skin(1)	3						c.(805-807)CAA>GAA		nuclear receptor subfamily 1, group D, member 2							72.0	66.0	68.0					3																	24003755		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24003755C>G	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.805C>G	3.37:g.24003755C>G	ENSP00000310006:p.Gln269Glu					NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.Q194E	p.Q269E	NM_005126	NP_005117	Q14995	NR1D2_HUMAN			5	1124	+			269					B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.805C>G	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542082	0.65198	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.91996	-2.95	5.84	5.84	0.93424	Nuclear hormone receptor, ligand-binding (1);	0.112463	0.64402	D	0.000005	D	0.92093	0.7494	L	0.39020	1.185	0.80722	D	1	D	0.56521	0.976	P	0.52309	0.695	D	0.91248	0.5027	10	0.41790	T	0.15	.	20.1319	0.98001	0.0:1.0:0.0:0.0	.	269	Q14995	NR1D2_HUMAN	E	269	ENSP00000310006:Q269E	ENSP00000310006:Q269E	Q	+	1	0	NR1D2	23978759	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.233000	0.78125	2.747000	0.94245	0.655000	0.94253	CAA		0.423	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3				12	50	0	0	0	0.00245	0	12	50		
DLEC1	9940	broad.mit.edu	37	3	38136538	38136538	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:38136538C>A	ENST00000308059.6	+	13	2109	c.2088C>A	c.(2086-2088)ttC>ttA	p.F696L	DLEC1_ENST00000452631.2_Missense_Mutation_p.F696L|DLEC1_ENST00000346219.3_Missense_Mutation_p.F696L					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACCACGAGTTCATCCTGAGCT	0.517																																						uc003cho.1		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(2086-2088)TTC>TTA		deleted in lung and esophageal cancer 1 isoform							80.0	87.0	85.0					3																	38136538		2018	4184	6202	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38136538C>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2088C>A	3.37:g.38136538C>A	ENSP00000308597:p.Phe696Leu					DLEC1_uc003chp.1_Missense_Mutation_p.F696L|DLEC1_uc010hgv.1_Missense_Mutation_p.F696L|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron	p.F696L	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	13	2109	+			696						Missense_Mutation	SNP	ENST00000308059.6	37	c.2088C>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039164	0.75617	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.11063	2.81;2.82;3.06	5.25	3.43	0.39272	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	M	0.77820	2.39	0.51012	D	0.9999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.01734	-1.1285	10	0.45353	T	0.12	-26.0727	9.4039	0.38449	0.0:0.7626:0.0:0.2374	.	696;696;696	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	L	696	ENSP00000308597:F696L;ENSP00000315914:F696L;ENSP00000410427:F696L	ENSP00000308597:F696L	F	+	3	2	DLEC1	38111542	0.916000	0.31088	1.000000	0.80357	0.732000	0.41865	0.446000	0.21694	1.184000	0.42957	0.655000	0.94253	TTC		0.517	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3		NM_007337		15	61	1	0	7.92952e-12	0.003954	8.54512e-12	15	61		
DLEC1	9940	broad.mit.edu	37	3	38136557	38136557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:38136557C>T	ENST00000308059.6	+	13	2128	c.2107C>T	c.(2107-2109)Cat>Tat	p.H703Y	DLEC1_ENST00000452631.2_Missense_Mutation_p.H703Y|DLEC1_ENST00000346219.3_Missense_Mutation_p.H703Y					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTTTTCTCCTCATGAGGTTCA	0.527																																						uc003cho.1		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(2107-2109)CAT>TAT		deleted in lung and esophageal cancer 1 isoform							70.0	76.0	74.0					3																	38136557		2007	4181	6188	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38136557C>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2107C>T	3.37:g.38136557C>T	ENSP00000308597:p.His703Tyr					DLEC1_uc003chp.1_Missense_Mutation_p.H703Y|DLEC1_uc010hgv.1_Missense_Mutation_p.H703Y|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron	p.H703Y	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	13	2128	+			703						Missense_Mutation	SNP	ENST00000308059.6	37	c.2107C>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412047	0.25465	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04862	3.55;3.54;3.78	5.25	0.557	0.17260	.	0.959372	0.08703	N	0.906206	T	0.03915	0.0110	L	0.31294	0.92	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.002	T	0.48692	-0.9013	10	0.16420	T	0.52	-0.0505	0.9262	0.01325	0.2076:0.3422:0.1264:0.3238	.	703;703;703	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	Y	703	ENSP00000308597:H703Y;ENSP00000315914:H703Y;ENSP00000410427:H703Y	ENSP00000308597:H703Y	H	+	1	0	DLEC1	38111561	0.000000	0.05858	0.014000	0.15608	0.380000	0.30137	0.115000	0.15540	0.117000	0.18138	-0.140000	0.14226	CAT		0.527	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3		NM_007337		15	53	0	0	0	0.008871	0	15	53		
DLEC1	9940	broad.mit.edu	37	3	38138129	38138129	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:38138129G>A	ENST00000308059.6	+	15	2262	c.2241G>A	c.(2239-2241)gtG>gtA	p.V747V	DLEC1_ENST00000452631.2_Silent_p.V747V|DLEC1_ENST00000346219.3_Silent_p.V747V					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAATCGAGGTGAAAGGCTCAG	0.493																																						uc003cho.1		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(2239-2241)GTG>GTA		deleted in lung and esophageal cancer 1 isoform							135.0	132.0	133.0					3																	38138129		1937	4147	6084	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38138129G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2241G>A	3.37:g.38138129G>A						DLEC1_uc003chp.1_Silent_p.V747V|DLEC1_uc010hgv.1_Silent_p.V747V|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_RNA	p.V747V	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	15	2262	+			747						Silent	SNP	ENST00000308059.6	37	c.2241G>A	CCDS2672.2																																																																																				0.493	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3		NM_007337		43	77	0	0	0	0.01441	0	43	77		
TMEM89	440955	broad.mit.edu	37	3	48658340	48658340	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:48658340G>T	ENST00000330862.3	-	2	513	c.415C>A	c.(415-417)Cac>Aac	p.H139N		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	139						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGACGTAGGTGGCCTTCGATG	0.612																																						uc011bbo.1		NaN																	0					0						c.(415-417)CAC>AAC		transmembrane protein 89 precursor							133.0	119.0	124.0					3																	48658340		2203	4300	6503	SO:0001583	missense	440955					integral to membrane		g.chr3:48658340G>T	AX657016	CCDS33751.1	3p21.31	2005-11-02			ENSG00000183396	ENSG00000183396			32372	protein-coding gene	gene with protein product							Standard	NM_001008269		Approved		uc011bbo.2	A2RUT3	OTTHUMG00000156647	ENST00000330862.3:c.415C>A	3.37:g.48658340G>T	ENSP00000329557:p.His139Asn						p.H139N	NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	415	-			139			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000330862.3	37	c.415C>A	CCDS33751.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929285	0.34096	.	.	ENSG00000183396	ENST00000330862	T	0.55234	0.53	4.83	4.83	0.62350	.	0.468479	0.16944	N	0.193194	T	0.65883	0.2734	L	0.47190	1.495	0.33823	D	0.629245	D	0.76494	0.999	D	0.87578	0.998	T	0.74000	-0.3805	10	0.87932	D	0	-22.8873	13.298	0.60309	0.0:0.0:1.0:0.0	.	139	A2RUT3	TMM89_HUMAN	N	139	ENSP00000329557:H139N	ENSP00000329557:H139N	H	-	1	0	TMEM89	48633344	0.998000	0.40836	0.993000	0.49108	0.088000	0.18126	1.262000	0.32992	2.526000	0.85167	0.563000	0.77884	CAC		0.612	TMEM89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345046.1		NM_001008269		35	86	1	0	4.65686e-17	0.003755	5.20106e-17	35	86		
CELSR3	1951	broad.mit.edu	37	3	48675652	48675652	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:48675652C>A	ENST00000164024.4	-	35	10205	c.9925G>T	c.(9925-9927)Gag>Tag	p.E3309*	SLC26A6_ENST00000383733.3_5'Flank|SLC26A6_ENST00000337000.8_5'Flank|CELSR3_ENST00000544264.1_Nonsense_Mutation_p.E3314*|SLC26A6_ENST00000455886.2_5'Flank|SLC26A6_ENST00000420764.2_5'Flank|SLC26A6_ENST00000395550.2_5'Flank	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3309					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGTGACCCTCACTTCTGGGA	0.607																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(9925-9927)GAG>TAG		cadherin EGF LAG seven-pass G-type receptor 3							112.0	90.0	98.0					3																	48675652		2203	4300	6503	SO:0001587	stop_gained	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48675652C>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9925G>T	3.37:g.48675652C>A	ENSP00000164024:p.Glu3309*					CELSR3_uc003cuf.1_Intron|SLC26A6_uc003cuh.2_5'Flank|SLC26A6_uc010hke.2_5'Flank|SLC26A6_uc003cuk.2_5'Flank|SLC26A6_uc003cui.2_5'Flank|SLC26A6_uc003cuj.2_5'Flank|SLC26A6_uc011bbp.1_5'Flank|CELSR3_uc010hkf.2_Nonsense_Mutation_p.E599*|CELSR3_uc010hkg.2_Nonsense_Mutation_p.E1292*	p.E3309*	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	35	10206	-			3309			Cytoplasmic (Potential).		O75092	Nonsense_Mutation	SNP	ENST00000164024.4	37	c.9925G>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	52	19.519591	0.99920	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.38932	D	0.957965	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4828	0.67594	0.0:1.0:0.0:0.0	.	.	.	.	X	3309;3314	.	ENSP00000164024:E3309X	E	-	1	0	CELSR3	48650656	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.511000	0.53400	2.164000	0.68074	0.462000	0.41574	GAG		0.607	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		21	55	1	0	6.00712e-18	0.012213	6.76091e-18	21	55		
CELSR3	1951	broad.mit.edu	37	3	48694197	48694197	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:48694197G>C	ENST00000164024.4	-	2	4613	c.4333C>G	c.(4333-4335)Cgc>Ggc	p.R1445G	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1445G	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1445	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGCCGTTGCGACATGGGTTG	0.711																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(4333-4335)CGC>GGC		cadherin EGF LAG seven-pass G-type receptor 3							20.0	18.0	19.0					3																	48694197		2197	4297	6494	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48694197G>C	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4333C>G	3.37:g.48694197G>C	ENSP00000164024:p.Arg1445Gly					CELSR3_uc003cuf.1_Missense_Mutation_p.R1515G	p.R1445G	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	4614	-			1445			Extracellular (Potential).|EGF-like 2; calcium-binding.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.4333C>G	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470957	0.43942	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.91631	-2.88;-2.88	4.9	4.01	0.46588	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.86585	0.5968	L	0.42686	1.345	0.39235	D	0.963745	B;P	0.49447	0.002;0.924	B;B	0.38562	0.001;0.276	D	0.84736	0.0748	9	0.13470	T	0.59	.	14.4611	0.67450	0.0:0.0:0.8517:0.1483	.	1445;1515	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	G	1445	ENSP00000164024:R1445G;ENSP00000445694:R1445G	ENSP00000164024:R1445G	R	-	1	0	CELSR3	48669201	1.000000	0.71417	0.928000	0.36995	0.987000	0.75469	3.579000	0.53900	1.258000	0.44101	0.549000	0.68633	CGC		0.711	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		2	8	0	0	0	0.004672	0	2	8		
CELSR3	1951	broad.mit.edu	37	3	48698429	48698429	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:48698429C>T	ENST00000164024.4	-	1	1919	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.E547K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	547	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGCGCTTCTCGCTGAACTGA	0.652																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(1639-1641)GAG>AAG		cadherin EGF LAG seven-pass G-type receptor 3							58.0	45.0	49.0					3																	48698429		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48698429C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1639G>A	3.37:g.48698429C>T	ENSP00000164024:p.Glu547Lys					CELSR3_uc003cuf.1_Missense_Mutation_p.E617K	p.E547K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1920	-			547			Extracellular (Potential).|Cadherin 3.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.1639G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501449	0.85176	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.01725	4.67;4.67	5.62	5.62	0.85841	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.02727	0.0082	N	0.11154	0.105	0.58432	D	0.999999	P;D	0.69078	0.956;0.997	B;P	0.51453	0.423;0.67	T	0.70223	-0.4931	9	0.41790	T	0.15	.	19.6472	0.95784	0.0:1.0:0.0:0.0	.	547;617	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	K	547	ENSP00000164024:E547K;ENSP00000445694:E547K	ENSP00000164024:E547K	E	-	1	0	CELSR3	48673433	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.662000	0.61525	2.642000	0.89623	0.655000	0.94253	GAG		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		22	34	0	0	0	0.00333	0	22	34		
QRICH1	54870	broad.mit.edu	37	3	49094498	49094498	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49094498G>A	ENST00000395443.2	-	3	1607	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F	QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Missense_Mutation_p.L379F|QRICH1_ENST00000357496.2_Missense_Mutation_p.L379F	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	379	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGTTTGCAAGGGTCTGCACT	0.522																																						uc010hkq.2		NaN																	0				ovary(1)	1						c.(1135-1137)CTT>TTT		glutamine-rich 1							129.0	114.0	119.0					3																	49094498		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49094498G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1135C>T	3.37:g.49094498G>A	ENSP00000378830:p.Leu379Phe					QRICH1_uc003cvu.2_Missense_Mutation_p.L379F|QRICH1_uc003cvv.2_Missense_Mutation_p.L379F	p.L379F	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	4	1431	-			379			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1135C>T	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763552	0.69878	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	N	0.24115	0.695	0.53688	D	0.999979	D	0.61697	0.99	P	0.48524	0.58	T	0.56396	-0.7986	9	0.52906	T	0.07	-2.3816	20.8794	0.99867	0.0:0.0:1.0:0.0	.	379	Q2TAL8	QRIC1_HUMAN	F	379	.	ENSP00000350094:L379F	L	-	1	0	QRICH1	49069502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.366000	0.73095	2.941000	0.99782	0.655000	0.94253	CTT		0.522	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1		NM_017730		24	55	0	0	0	0.004656	0	24	55		
KLHDC8B	200942	broad.mit.edu	37	3	49212384	49212384	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49212384T>G	ENST00000332780.2	+	4	960	c.751T>G	c.(751-753)Ttt>Gtt	p.F251V	C3orf84_ENST00000443990.1_5'Flank|KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	251						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTGGAGATGTTTGACCTGGA	0.587																																						uc003cwh.2		NaN																	0					0						c.(751-753)TTT>GTT		kelch domain containing 8B							73.0	68.0	70.0					3																	49212384		2203	4300	6503	SO:0001583	missense	200942					cytoplasm		g.chr3:49212384T>G		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.751T>G	3.37:g.49212384T>G	ENSP00000327468:p.Phe251Val					KLHDC8B_uc003cwi.1_Missense_Mutation_p.F124V	p.F251V	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	4	936	+			251			Kelch 6.			Missense_Mutation	SNP	ENST00000332780.2	37	c.751T>G	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.847801	0.91277	.	.	ENSG00000185909	ENST00000332780;ENST00000538729	T	0.79554	-1.28	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.056601	0.64402	D	0.000001	D	0.88621	0.6486	M	0.69823	2.125	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.68765	0.931;0.96	D	0.89701	0.3905	10	0.87932	D	0	-18.5374	15.6316	0.76912	0.0:0.0:0.0:1.0	.	205;251	B4DFM2;Q8IXV7	.;KLD8B_HUMAN	V	251;2	ENSP00000327468:F251V	ENSP00000327468:F251V	F	+	1	0	KLHDC8B	49187388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.252000	0.72447	2.288000	0.76882	0.533000	0.62120	TTT		0.587	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1		NM_173546		12	82	0	0	0	0.003163	0	12	82		
USP4	7375	broad.mit.edu	37	3	49362149	49362149	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49362149C>G	ENST00000265560.4	-	6	727	c.681G>C	c.(679-681)caG>caC	p.Q227H	USP4_ENST00000416417.1_Missense_Mutation_p.Q227H|USP4_ENST00000351842.4_Missense_Mutation_p.Q227H|USP4_ENST00000415188.1_Missense_Mutation_p.Q227H	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	227					negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ACTGCAAGGTCTGCCTGGGCC	0.438																																						uc003cwq.2		NaN																	0				ovary(2)|urinary_tract(1)|lung(1)	4						c.(679-681)CAG>CAC		ubiquitin specific protease 4 isoform a							126.0	119.0	121.0					3																	49362149		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49362149C>G	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.681G>C	3.37:g.49362149C>G	ENSP00000265560:p.Gln227His					USP4_uc003cwr.2_Missense_Mutation_p.Q227H	p.Q227H	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	6	760	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	227					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.681G>C	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168661	0.38315	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.32515	1.98;2.08;1.45	5.45	4.58	0.56647	.	.	.	.	.	T	0.28995	0.0720	L	0.46157	1.445	0.50632	D	0.999886	B;B	0.16166	0.016;0.012	B;B	0.20577	0.028;0.03	T	0.04900	-1.0919	9	0.44086	T	0.13	-14.2756	12.8348	0.57767	0.0:0.9205:0.0:0.0795	.	227;227	Q13107-2;Q13107	.;UBP4_HUMAN	H	227	ENSP00000341028:Q227H;ENSP00000265560:Q227H;ENSP00000400623:Q227H	ENSP00000265560:Q227H	Q	-	3	2	USP4	49337153	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	0.384000	0.20668	1.301000	0.44836	0.655000	0.94253	CAG		0.438	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1		NM_199443		13	90	0	0	0	0.004007	0	13	90		
USP4	7375	broad.mit.edu	37	3	49362462	49362462	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49362462C>A	ENST00000265560.4	-	5	544	c.498G>T	c.(496-498)gaG>gaT	p.E166D	USP4_ENST00000416417.1_Missense_Mutation_p.E166D|USP4_ENST00000351842.4_Missense_Mutation_p.E166D|USP4_ENST00000415188.1_Missense_Mutation_p.E166D	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	166	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.|Ubiquitin-like 1.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCATCTCTTTCTCGATGGTTG	0.478																																						uc003cwq.2		NaN																	0				ovary(2)|urinary_tract(1)|lung(1)	4						c.(496-498)GAG>GAT		ubiquitin specific protease 4 isoform a							152.0	151.0	152.0					3																	49362462		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49362462C>A	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.498G>T	3.37:g.49362462C>A	ENSP00000265560:p.Glu166Asp					USP4_uc003cwr.2_Missense_Mutation_p.E166D	p.E166D	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	5	577	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	166					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.498G>T	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440320	0.63067	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.31769	2.0;2.11;1.48	5.51	4.63	0.57726	.	0.149728	0.64402	D	0.000018	T	0.46580	0.1400	M	0.72894	2.215	0.49051	D	0.999746	D;P	0.55800	0.973;0.546	P;B	0.59288	0.855;0.441	T	0.40059	-0.9583	10	0.38643	T	0.18	-23.3717	9.6077	0.39643	0.0:0.8389:0.0:0.1611	.	166;166	Q13107-2;Q13107	.;UBP4_HUMAN	D	166	ENSP00000341028:E166D;ENSP00000265560:E166D;ENSP00000400623:E166D	ENSP00000265560:E166D	E	-	3	2	USP4	49337466	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	1.546000	0.36179	1.339000	0.45563	0.491000	0.48974	GAG		0.478	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1		NM_199443		21	131	1	0	3.73808e-20	0.005443	4.29843e-20	21	131		
DAG1	1605	broad.mit.edu	37	3	49568599	49568599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49568599G>A	ENST00000539901.1	+	3	1213	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	DAG1_ENST00000515359.2_Missense_Mutation_p.E219K|DAG1_ENST00000545947.1_Missense_Mutation_p.E219K|DAG1_ENST00000538711.1_Missense_Mutation_p.E219K|DAG1_ENST00000308775.2_Missense_Mutation_p.E219K|DAG1_ENST00000541308.1_Missense_Mutation_p.E219K	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	219	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGCTTCTCAGAAGTAGAGCT	0.488																																						uc003cxc.3		NaN																	0				ovary(2)	2						c.(655-657)GAA>AAA		dystroglycan 1 preproprotein							73.0	77.0	76.0					3																	49568599		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49568599G>A	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.655G>A	3.37:g.49568599G>A	ENSP00000439334:p.Glu219Lys						p.E219K	NM_004393	NP_004384	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1073	+			219			Required for laminin recognition.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.655G>A	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910470	0.33721	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000415315	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.92	4.06	0.47325	.	0.303322	0.40385	N	0.001114	T	0.65333	0.2681	L	0.29908	0.895	0.25325	N	0.989082	B	0.16802	0.019	B	0.17722	0.019	T	0.42310	-0.9459	10	0.08381	T	0.77	-1.0097	15.5163	0.75828	0.0:0.2622:0.7378:0.0	.	219	Q14118	DAG1_HUMAN	K	219;219;219;219;219;219;18	ENSP00000440705:E219K;ENSP00000312435:E219K;ENSP00000442600:E219K;ENSP00000440590:E219K;ENSP00000439334:E219K;ENSP00000438421:E219K	ENSP00000312435:E219K	E	+	1	0	DAG1	49543603	1.000000	0.71417	0.257000	0.24404	0.992000	0.81027	4.752000	0.62176	0.772000	0.33382	0.655000	0.94253	GAA		0.488	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1				20	45	0	0	0	0.00333	0	20	45		
BSN	8927	broad.mit.edu	37	3	49691151	49691151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49691151C>A	ENST00000296452.4	+	5	4276	c.4162C>A	c.(4162-4164)Cct>Act	p.P1388T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1388					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)		AGCTGTGGCTCCTTGTCCAGC	0.622																																						uc003cxe.3		NaN																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(4162-4164)CCT>ACT		bassoon protein							54.0	57.0	56.0					3																	49691151		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691151C>A	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.4162C>A	3.37:g.49691151C>A	ENSP00000296452:p.Pro1388Thr						p.P1388T	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	4276	+			1388					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4162C>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528526	0.27299	.	.	ENSG00000164061	ENST00000296452	T	0.16324	2.35	4.87	1.53	0.23141	.	0.543054	0.17639	N	0.167098	T	0.07143	0.0181	N	0.25647	0.755	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.36480	-0.9746	10	0.05620	T	0.96	.	1.4663	0.02406	0.1666:0.3204:0.3406:0.1724	.	1388	Q9UPA5	BSN_HUMAN	T	1388	ENSP00000296452:P1388T	ENSP00000296452:P1388T	P	+	1	0	BSN	49666155	0.010000	0.17322	0.132000	0.22025	0.959000	0.62525	1.038000	0.30254	1.003000	0.39130	0.462000	0.41574	CCT		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458		32	62	1	0	4.3181e-19	0.013726	4.90731e-19	32	62		
GMPPB	29925	broad.mit.edu	37	3	49756782	49756782	+	3'UTR	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49756782G>C	ENST00000480687.1	-	0	3602				AMIGO3_ENST00000535833.1_Missense_Mutation_p.I39M|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.I39M|RNF123_ENST00000497099.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGGCAGCGCAGATACATTTGT	0.652											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cxj.2		NaN																	0				pancreas(1)	1						c.(115-117)ATC>ATG		adhesion molecule with Ig-like domain 3							57.0	64.0	61.0					3																	49756782		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756782G>C	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2403C>G	3.37:g.49756782G>C			OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.I39M	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	457	-			39			Extracellular (Potential).|LRRNT.		A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.117C>G	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462954	0.43736	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.59906	0.23;0.23	5.8	1.85	0.25348	Leucine-rich repeat-containing N-terminal (1);	0.699813	0.12864	N	0.432901	T	0.51329	0.1668	L	0.54323	1.7	0.39825	D	0.97289	B	0.34103	0.437	B	0.34590	0.186	T	0.40515	-0.9559	10	0.37606	T	0.19	-14.0825	10.4299	0.44400	0.0:0.4138:0.3487:0.2375	.	39	Q86WK7	AMGO3_HUMAN	M	39	ENSP00000323096:I39M;ENSP00000439268:I39M	ENSP00000323096:I39M	I	-	3	3	AMIGO3	49731786	0.958000	0.32768	0.139000	0.22197	0.556000	0.35491	0.092000	0.15066	0.047000	0.15862	-0.122000	0.15005	ATC		0.652	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1		NM_013334		17	144	0	0	0	0.00333	0	17	144		
GMPPB	29925	broad.mit.edu	37	3	49759447	49759447	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49759447G>A	ENST00000480687.1	-	9	1018	c.902C>T	c.(901-903)tCc>tTc	p.S301F	AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Missense_Mutation_p.S301F|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308375.6_Missense_Mutation_p.S301F			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	301					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCAAGCCAGGAATGGGAACG	0.667																																						uc003cxk.1		NaN																	0					0						c.(901-903)TCC>TTC		GDP-mannose pyrophosphorylase B isoform 2							83.0	70.0	75.0					3																	49759447		2203	4300	6503	SO:0001583	missense	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49759447G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.902C>T	3.37:g.49759447G>A	ENSP00000418565:p.Ser301Phe					AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.S301F	p.S301F	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1127	-			301					A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.902C>T	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264706	0.59431	.	.	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	D;D;D	0.94376	-3.41;-3.41;-3.41	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	M	0.93720	3.45	0.80722	D	1	D;D	0.71674	0.991;0.998	D;P	0.66497	0.944;0.832	D	0.98372	1.0554	10	0.87932	D	0	-24.312	17.425	0.87524	0.0:0.0:1.0:0.0	.	301;301	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	F	301	ENSP00000418565:S301F;ENSP00000309092:S301F;ENSP00000311130:S301F	ENSP00000309092:S301F	S	-	2	0	GMPPB	49734451	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	9.532000	0.98057	2.579000	0.87056	0.561000	0.74099	TCC		0.667	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1		NM_013334		12	114	0	0	0	0.006122	0	12	114		
MST1R	4486	broad.mit.edu	37	3	49927421	49927421	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49927421C>G	ENST00000296474.3	-	19	3910	c.3883G>C	c.(3883-3885)Gac>Cac	p.D1295H	MST1R_ENST00000344206.4_Missense_Mutation_p.D1246H	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGGTAAGGTCAAAAGGGTCA	0.602																																						uc003cxy.3		NaN																	0				ovary(5)|lung(1)	6						c.(3883-3885)GAC>CAC		macrophage stimulating 1 receptor precursor							111.0	106.0	107.0					3																	49927421		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49927421C>G	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3883G>C	3.37:g.49927421C>G	ENSP00000296474:p.Asp1295His					MST1R_uc011bdc.1_Missense_Mutation_p.D174H	p.D1295H	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	19	4147	-			1295			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3883G>C	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.192407|5.192407	0.94960|0.94960	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000296474;ENST00000344206|ENST00000434765	D;D|.	0.83250|.	-1.7;-1.7|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71264|0.71264	0.3319|0.3319	L|L	0.49513|0.49513	1.565|1.565	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.65631|0.65631	-0.6121|-0.6121	10|5	0.87932|.	D|.	0|.	-37.6582|-37.6582	19.9134|19.9134	0.97033|0.97033	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1295|.	Q04912|.	RON_HUMAN|.	H|F	1295;1246|272	ENSP00000296474:D1295H;ENSP00000341325:D1246H|.	ENSP00000296474:D1295H|.	D|L	-|-	1|3	0|2	MST1R|MST1R	49902425|49902425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.532000|7.532000	0.81985|0.81985	2.806000|2.806000	0.96561|0.96561	0.549000|0.549000	0.68633|0.68633	GAC|TTG		0.602	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1				35	82	0	0	0	0.011902	0	35	82		
PARP3	10039	broad.mit.edu	37	3	51979599	51979599	+	Missense_Mutation	SNP	G	G	T	rs368640893		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:51979599G>T	ENST00000417220.2	+	8	1438	c.950G>T	c.(949-951)cGa>cTa	p.R317L	PARP3_ENST00000431474.1_Missense_Mutation_p.R317L|PARP3_ENST00000398755.3_Missense_Mutation_p.R324L			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	317	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCCTGGACCGAGACTACCAG	0.627																																						uc003dby.2		NaN																	0				ovary(1)	1						c.(949-951)CGA>CTA		poly (ADP-ribose) polymerase family, member 3							55.0	61.0	59.0					3																	51979599		2054	4187	6241	SO:0001583	missense	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51979599G>T	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.950G>T	3.37:g.51979599G>T	ENSP00000395951:p.Arg317Leu					PARP3_uc003dbz.2_Missense_Mutation_p.R324L	p.R317L	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	7	1321	+			317			PARP catalytic.		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	c.950G>T	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701442	0.30142	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	4.86	3.99	0.46301	Poly(ADP-ribose) polymerase, catalytic domain (1);Poly(ADP-ribose) polymerase, regulatory domain (3);	0.269175	0.38548	N	0.001659	T	0.09598	0.0236	L	0.39633	1.23	0.37603	D	0.92064	B;B	0.27910	0.16;0.193	B;B	0.25140	0.016;0.058	T	0.20907	-1.0261	10	0.23891	T	0.37	-4.7006	5.1229	0.14869	0.2184:0.0:0.6264:0.1552	.	324;317	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	L	317;317;324;317	ENSP00000395951:R317L;ENSP00000401511:R317L;ENSP00000381740:R324L;ENSP00000417625:R317L	ENSP00000381740:R324L	R	+	2	0	PARP3	51954639	0.968000	0.33430	1.000000	0.80357	0.871000	0.50021	2.057000	0.41365	1.294000	0.44707	0.561000	0.74099	CGA		0.627	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2		NM_005485.4		32	61	1	0	1.59932e-28	0.007835	1.85738e-28	32	61		
DENND6A	201627	broad.mit.edu	37	3	57649368	57649368	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:57649368G>C	ENST00000311128.5	-	5	578	c.508C>G	c.(508-510)Cag>Gag	p.Q170E		NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	170					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										ATTACCTTCTGAAAGTAGCCT	0.289																																						uc003dja.2		NaN																	0				pancreas(1)	1						c.(508-510)CAG>GAG		hypothetical protein LOC201627							61.0	65.0	64.0					3																	57649368		2201	4295	6496	SO:0001583	missense	201627							g.chr3:57649368G>C	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.508C>G	3.37:g.57649368G>C	ENSP00000311401:p.Gln170Glu						p.Q170E	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	5	579	-			170					Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.508C>G	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508900	0.85282	.	.	ENSG00000174839	ENST00000311128	T	0.63096	-0.02	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.83760	0.5324	M	0.90082	3.085	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.86550	0.1834	10	0.87932	D	0	-15.5873	19.3847	0.94551	0.0:0.0:1.0:0.0	.	170	Q8IWF6	F116A_HUMAN	E	170	ENSP00000311401:Q170E	ENSP00000311401:Q170E	Q	-	1	0	FAM116A	57624408	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.127000	0.89593	2.694000	0.91930	0.467000	0.42956	CAG		0.289	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1		NM_152678		25	68	0	0	0	0.003271	0	25	68		
ADAMTS9	56999	broad.mit.edu	37	3	64607917	64607917	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:64607917C>A	ENST00000498707.1	-	18	2985	c.2643G>T	c.(2641-2643)tgG>tgT	p.W881C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W853C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	881	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATGACTGTTCCAGTAAAACT	0.393																																						uc003dmg.2		NaN																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(2641-2643)TGG>TGT		ADAM metallopeptidase with thrombospondin type 1							78.0	79.0	78.0					3																	64607917		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64607917C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2643G>T	3.37:g.64607917C>A	ENSP00000418735:p.Trp881Cys					ADAMTS9_uc011bfo.1_Missense_Mutation_p.W853C|ADAMTS9_uc003dmh.1_Missense_Mutation_p.W710C|ADAMTS9_uc003dmk.1_Missense_Mutation_p.W881C	p.W881C	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	18	2675	-		Lung NSC(201;0.00682)	881			TSP type-1 2.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2643G>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295446	0.81025	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.62788	0.0;0.0	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84897	0.5574	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	D	0.87853	0.2659	10	0.72032	D	0.01	.	19.673	0.95918	0.0:1.0:0.0:0.0	.	853;881;881;881	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	C	853;881	ENSP00000295903:W853C;ENSP00000418735:W881C	ENSP00000295903:W853C	W	-	3	0	ADAMTS9	64582957	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.487000	0.81328	2.668000	0.90789	0.563000	0.77884	TGG		0.393	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1				35	68	1	0	1.57945e-13	0.011902	1.71795e-13	35	68		
UBA3	9039	broad.mit.edu	37	3	69124658	69124658	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:69124658G>C	ENST00000361055.4	-	4	241	c.187C>G	c.(187-189)Ctc>Gtc	p.L63V	UBA3_ENST00000415609.2_Intron|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000349511.4_Missense_Mutation_p.L49V	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	63	Interaction with UBE2M N-terminus.				cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AAGAACTGGAGAGACTGTAAA	0.343																																						uc003dno.2		NaN																	0				ovary(1)	1						c.(187-189)CTC>GTC		ubiquitin-activating enzyme 3 isoform 1							57.0	57.0	57.0					3																	69124658		2203	4300	6503	SO:0001583	missense	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69124658G>C	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.187C>G	3.37:g.69124658G>C	ENSP00000354340:p.Leu63Val					UBA3_uc003dnq.2_Missense_Mutation_p.L49V|UBA3_uc011bfy.1_5'UTR|UBA3_uc011bfz.1_Intron	p.L63V	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	4	207	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	63			Interaction with UBE2M N-terminus.		A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	ENST00000361055.4	37	c.187C>G	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956468	0.53293	.	.	ENSG00000144744	ENST00000361055;ENST00000349511	T;T	0.30182	1.54;1.54	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	L	0.59436	1.845	0.80722	D	1	P;P	0.37914	0.611;0.477	B;B	0.43103	0.408;0.231	T	0.06826	-1.0805	10	0.32370	T	0.25	-7.041	19.7734	0.96382	0.0:0.0:1.0:0.0	.	49;63	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	V	63;49	ENSP00000354340:L63V;ENSP00000340041:L49V	ENSP00000340041:L49V	L	-	1	0	UBA3	69207348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.361000	0.66092	2.684000	0.91462	0.563000	0.77884	CTC		0.343	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1		NM_198195		16	39	0	0	0	0.010504	0	16	39		
FRMD4B	23150	broad.mit.edu	37	3	69246184	69246184	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:69246184G>C	ENST00000398540.3	-	13	1042	c.959C>G	c.(958-960)tCa>tGa	p.S320*	FRMD4B_ENST00000478263.1_5'UTR|FRMD4B_ENST00000542259.1_Nonsense_Mutation_p.S266*	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	320	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCTTGAAACTGAAATCCTGAA	0.418																																						uc003dnv.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(958-960)TCA>TGA		FERM domain containing 4B							75.0	70.0	72.0					3																	69246184		1866	4105	5971	SO:0001587	stop_gained	23150					cytoplasm|cytoskeleton	binding	g.chr3:69246184G>C	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.959C>G	3.37:g.69246184G>C	ENSP00000381549:p.Ser320*					FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_5'UTR|FRMD4B_uc011bga.1_Nonsense_Mutation_p.S164*	p.S320*	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	13	1249	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	320			FERM.		Q8TAI3	Nonsense_Mutation	SNP	ENST00000398540.3	37	c.959C>G	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	G	37	6.317055	0.97467	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000462512	.	.	.	5.9	5.02	0.67125	.	0.194191	0.47093	D	0.000258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-13.0546	14.4791	0.67567	0.07:0.0:0.93:0.0	.	.	.	.	X	320;266;31	.	ENSP00000381549:S320X	S	-	2	0	FRMD4B	69328874	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.977000	0.88081	2.790000	0.95986	0.650000	0.86243	TCA		0.418	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1				13	19	0	0	0	0.00499	0	13	19		
EIF4E3	317649	broad.mit.edu	37	3	71743081	71743081	+	Missense_Mutation	SNP	C	C	G	rs369981173		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:71743081C>G	ENST00000425534.3	-	5	424	c.417G>C	c.(415-417)tgG>tgC	p.W139C	EIF4E3_ENST00000295612.3_Missense_Mutation_p.W33C|EIF4E3_ENST00000448225.1_Missense_Mutation_p.W33C|EIF4E3_ENST00000389826.3_Missense_Mutation_p.W33C|EIF4E3_ENST00000421769.2_Missense_Mutation_p.W33C|EIF4E3_ENST00000468147.1_5'UTR	NM_001134651.1	NP_001128123.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	139					cytokine-mediated signaling pathway (GO:0019221)|regulation of translation (GO:0006417)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		GCAACTCTTTCCAAACTGTGG	0.448																																						uc003dov.3		NaN																	0					0						c.(415-417)TGG>TGC		eukaryotic translation initiation factor 4E							32.0	30.0	31.0					3																	71743081		2203	4300	6503	SO:0001583	missense	317649				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr3:71743081C>G	AK126999	CCDS33786.1, CCDS46867.1	3p14	2008-02-05	2006-11-13		ENSG00000163412	ENSG00000163412			31837	protein-coding gene	gene with protein product		609896	"""eukaryotic translation initiation factor 4E member 3"""			15153109	Standard	NM_173359		Approved	MGC39820	uc003dov.4	Q8N5X7	OTTHUMG00000158797	ENST00000425534.3:c.417G>C	3.37:g.71743081C>G	ENSP00000393324:p.Trp139Cys					EIF4E3_uc011bgc.1_Missense_Mutation_p.W33C|EIF4E3_uc003dox.2_Missense_Mutation_p.W33C|EIF4E3_uc011bgd.1_Missense_Mutation_p.W33C|EIF4E3_uc010hoc.2_Missense_Mutation_p.W33C	p.W139C	NM_001134651	NP_001128123	Q8N5X7	IF4E3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)	5	425	-		Prostate(10;0.0166)	139					B2R963|Q6NUT1	Missense_Mutation	SNP	ENST00000425534.3	37	c.417G>C	CCDS46867.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309523	0.81247	.	.	ENSG00000163412	ENST00000425534;ENST00000448225;ENST00000389826;ENST00000295612;ENST00000421769;ENST00000497838;ENST00000496214;ENST00000469524	T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.93	5.93	0.95920	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	D	0.88477	0.6447	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92139	0.5719	10	0.87932	D	0	-21.366	20.3437	0.98782	0.0:1.0:0.0:0.0	.	139	Q8N5X7	IF4E3_HUMAN	C	139;33;33;33;33;33;33;33	ENSP00000393324:W139C;ENSP00000410350:W33C;ENSP00000374476:W33C;ENSP00000295612:W33C;ENSP00000411762:W33C;ENSP00000418211:W33C;ENSP00000417889:W33C;ENSP00000419421:W33C	ENSP00000295612:W33C	W	-	3	0	EIF4E3	71825771	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.386000	0.79775	2.815000	0.96918	0.561000	0.74099	TGG		0.448	EIF4E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352294.2		NM_173359		3	10	0	0	0	0.009096	0	3	10		
OR5H1	26341	broad.mit.edu	37	3	97852160	97852160	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:97852160C>G	ENST00000354565.2	+	1	619	c.619C>G	c.(619-621)Cag>Gag	p.Q207E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	207						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGGTTCAATTCAGGTATTCAG	0.313																																						uc011bgt.1		NaN																	0				ovary(1)|breast(1)	2						c.(619-621)CAG>GAG		olfactory receptor, family 5, subfamily H,							46.0	50.0	49.0					3																	97852160		2201	4299	6500	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852160C>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.619C>G	3.37:g.97852160C>G	ENSP00000346575:p.Gln207Glu						p.Q207E	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	619	+			207			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.619C>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	1.937	-0.444543	0.04604	.	.	ENSG00000231192	ENST00000354565	T	0.36699	1.24	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000444	T	0.35098	0.0920	N	0.21448	0.665	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.25293	-1.0136	10	0.02654	T	1	.	8.1668	0.31230	0.2395:0.7605:0.0:0.0	.	207	A6NKK0	OR5H1_HUMAN	E	207	ENSP00000346575:Q207E	ENSP00000346575:Q207E	Q	+	1	0	OR5H1	99334850	0.000000	0.05858	0.447000	0.26932	0.049000	0.14656	-0.582000	0.05814	1.818000	0.53035	0.195000	0.17529	CAG		0.313	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2		NM_001005338		6	33	0	0	0	0.001984	0	6	33		
PHLDB2	90102	broad.mit.edu	37	3	111686606	111686606	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:111686606G>A	ENST00000431670.2	+	15	3661	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	PHLDB2_ENST00000495180.1_Missense_Mutation_p.E575K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E1084K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E1041K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E1041K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E1068K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1084						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATTACAGGAAGAAACTAGCCA	0.433											OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010hqa.2		NaN																	0				ovary(4)|skin(2)	6						c.(3250-3252)GAA>AAA		pleckstrin homology-like domain, family B,							55.0	57.0	56.0					3																	111686606		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111686606G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3250G>A	3.37:g.111686606G>A	ENSP00000405405:p.Glu1084Lys		OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	PHLDB2_uc003dyc.2_Missense_Mutation_p.E1068K|PHLDB2_uc003dyd.2_Missense_Mutation_p.E1041K|PHLDB2_uc003dyg.2_Missense_Mutation_p.E1084K|PHLDB2_uc003dyh.2_Missense_Mutation_p.E1041K|PHLDB2_uc003dyi.2_Missense_Mutation_p.E575K|PHLDB2_uc003dyj.2_Missense_Mutation_p.E139K	p.E1084K	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			15	3661	+			1084			Potential.		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3250G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	36	5.758945	0.96898	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.998;0.996;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.971;0.948;0.999;0.999	T	0.76242	-0.3031	10	0.51188	T	0.08	.	19.0945	0.93244	0.0:0.0:1.0:0.0	.	196;575;1084;1041;1068	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	K	1068;1084;1041;1041;1084;1041;575	ENSP00000377500:E1068K;ENSP00000405405:E1084K;ENSP00000405292:E1041K;ENSP00000418296:E1041K;ENSP00000377502:E1084K;ENSP00000418319:E1041K;ENSP00000420303:E575K	ENSP00000377500:E1068K	E	+	1	0	PHLDB2	113169296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.000000	0.93564	2.882000	0.98803	0.655000	0.94253	GAA		0.433	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1		NM_145753		6	22	0	0	0	0.001168	0	6	22		
KIAA2018	205717	broad.mit.edu	37	3	113376375	113376375	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:113376375G>A	ENST00000478658.1	-	5	4171	c.4154C>T	c.(4153-4155)tCa>tTa	p.S1385L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S1385L			Q68DE3	K2018_HUMAN	KIAA2018	1385						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGGCACAACTGAGTTTGAAGA	0.448																																						uc003eam.2		NaN																	0				skin(2)|ovary(1)	3						c.(4153-4155)TCA>TTA		hypothetical protein LOC205717							101.0	98.0	99.0					3																	113376375		2021	4170	6191	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113376375G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4154C>T	3.37:g.113376375G>A	ENSP00000420721:p.Ser1385Leu					KIAA2018_uc003eal.2_Missense_Mutation_p.S1329L	p.S1385L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	4565	-			1385					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.4154C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	5.091	0.202454	0.09652	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.16597	2.33;2.33	5.68	4.8	0.61643	.	0.600581	0.17583	N	0.169055	T	0.13030	0.0316	L	0.29908	0.895	0.25657	N	0.986049	B	0.16166	0.016	B	0.10450	0.005	T	0.16689	-1.0394	10	0.34782	T	0.22	-5.6307	10.2268	0.43231	0.0701:0.0:0.7925:0.1374	.	1385	Q68DE3	K2018_HUMAN	L	1385	ENSP00000320794:S1385L;ENSP00000420721:S1385L	ENSP00000320794:S1385L	S	-	2	0	KIAA2018	114859065	1.000000	0.71417	0.587000	0.28692	0.002000	0.02628	6.199000	0.72112	1.380000	0.46344	-0.500000	0.04577	TCA		0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899		13	53	0	0	0	0.00245	0	13	53		
ZBTB20	26137	broad.mit.edu	37	3	114070334	114070334	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:114070334C>T	ENST00000474710.1	-	4	769	c.591G>A	c.(589-591)gtG>gtA	p.V197V	ZBTB20_ENST00000471418.1_Silent_p.V124V|ZBTB20_ENST00000393785.2_Silent_p.V124V|ZBTB20_ENST00000481632.1_Silent_p.V124V|ZBTB20_ENST00000464560.1_Silent_p.V124V|ZBTB20_ENST00000462705.1_Silent_p.V124V|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.V124V|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	197						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACACATCGCCCACGTTCTGTG	0.652																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2		NaN																	0				ovary(4)|skin(1)	5						c.(589-591)GTG>GTA		zinc finger and BTB domain containing 20 isoform							75.0	63.0	67.0					3																	114070334		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070334C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.591G>A	3.37:g.114070334C>T						ZBTB20_uc003ebj.2_Silent_p.V124V|ZBTB20_uc010hqp.2_Silent_p.V124V|ZBTB20_uc003ebk.2_Silent_p.V124V|ZBTB20_uc003ebl.2_Silent_p.V124V|ZBTB20_uc003ebm.2_Silent_p.V124V|ZBTB20_uc003ebn.2_Silent_p.V124V|uc003ebo.1_5'Flank	p.V197V	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	771	-			197					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.591G>A	CCDS54626.1																																																																																				0.652	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1		NM_015642		10	79	0	0	0	0.010729	0	10	79		
ACPP	55	broad.mit.edu	37	3	132068810	132068810	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:132068810G>C	ENST00000336375.5	+	8	918	c.828G>C	c.(826-828)caG>caC	p.Q276H	ACPP_ENST00000351273.7_Missense_Mutation_p.Q276H|ACPP_ENST00000475741.1_Missense_Mutation_p.Q243H	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	276					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GAGCAACTCAGATACCAAGCT	0.348																																						uc010htp.2		NaN																	0				ovary(1)	1						c.(826-828)CAG>CAC		acid phosphatase, prostate short isoform							147.0	131.0	137.0					3																	132068810		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132068810G>C		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.828G>C	3.37:g.132068810G>C	ENSP00000337471:p.Gln276His					ACPP_uc003eon.3_Missense_Mutation_p.Q243H|ACPP_uc003eop.3_Missense_Mutation_p.Q276H	p.Q276H	NM_001099	NP_001090	P15309	PPAP_HUMAN			8	918	+			276					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.828G>C	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183505	0.21870	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.31510	1.49;1.49;1.49	5.82	-6.69	0.01772	.	0.902112	0.09663	N	0.772239	T	0.14356	0.0347	L	0.29908	0.895	0.09310	N	1	B;B;B	0.12013	0.005;0.004;0.005	B;B;B	0.11329	0.003;0.001;0.006	T	0.30090	-0.9990	10	0.45353	T	0.12	.	0.3876	0.00405	0.269:0.2835:0.1597:0.2878	.	276;276;243	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	H	276;243;276	ENSP00000337471:Q276H;ENSP00000417744:Q243H;ENSP00000323036:Q276H	ENSP00000337471:Q276H	Q	+	3	2	ACPP	133551500	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.451000	0.02387	-0.740000	0.04803	0.557000	0.71058	CAG		0.348	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2		NM_001099		10	61	0	0	0	0.006214	0	10	61		
CEP63	80254	broad.mit.edu	37	3	134278032	134278032	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:134278032G>A	ENST00000337090.3	+	14	1887	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K	CEP63_ENST00000606977.1_Missense_Mutation_p.E572K|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.E572K|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	572					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AATAAAGACTGAGCACTACAA	0.433																																						uc003eqo.1		NaN																	0				ovary(1)	1						c.(1714-1716)GAG>AAG		centrosomal protein 63 isoform a							139.0	139.0	139.0					3																	134278032		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134278032G>A	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1714G>A	3.37:g.134278032G>A	ENSP00000336524:p.Glu572Lys					CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	p.E572K	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			15	2163	+			572					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1714G>A	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627300	0.28978	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.17854	2.25;2.25	4.77	3.87	0.44632	.	0.502640	0.20145	N	0.098283	T	0.16214	0.0390	L	0.50333	1.59	0.30373	N	0.782667	B	0.30634	0.288	B	0.33690	0.168	T	0.10086	-1.0645	10	0.14252	T	0.57	-5.5258	10.9666	0.47416	0.0:0.189:0.811:0.0	.	572	Q96MT8	CEP63_HUMAN	K	572	ENSP00000336524:E572K;ENSP00000426129:E572K	ENSP00000336524:E572K	E	+	1	0	CEP63	135760722	1.000000	0.71417	0.584000	0.28653	0.821000	0.46438	4.444000	0.60001	1.305000	0.44909	0.650000	0.86243	GAG		0.433	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1		NM_025180		56	103	0	0	0	0.01441	0	56	103		
DZIP1L	199221	broad.mit.edu	37	3	137822364	137822364	+	Silent	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:137822364G>T	ENST00000327532.2	-	2	812	c.450C>A	c.(448-450)atC>atA	p.I150I	DZIP1L_ENST00000469243.1_Silent_p.I150I	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	150					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GCAGGGTGCTGATCATCTTGC	0.662																																						uc003erq.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(448-450)ATC>ATA		DAZ interacting protein 1-like							46.0	42.0	43.0					3																	137822364		2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137822364G>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.450C>A	3.37:g.137822364G>T						DZIP1L_uc003err.1_Silent_p.I150I	p.I150I	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			2	813	-			150					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.450C>A	CCDS3096.1																																																																																				0.662	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1		NM_173543		12	26	1	0	2.27111e-07	0.013537	2.39432e-07	12	26		
SMC4	10051	broad.mit.edu	37	3	160148850	160148850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:160148850C>T	ENST00000357388.3	+	20	3422	c.2971C>T	c.(2971-2973)Cgc>Tgc	p.R991C	SMC4_ENST00000360111.2_Intron|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.R991C|SMC4_ENST00000462787.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.R966C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	991					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAAGAACATCGCAATCTGCT	0.333																																						uc003fdh.2		NaN																	0				ovary(1)|breast(1)	2						c.(2971-2973)CGC>TGC		SMC4 structural maintenance of chromosomes							53.0	55.0	55.0					3																	160148850		2203	4297	6500	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160148850C>T	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2971C>T	3.37:g.160148850C>T	ENSP00000349961:p.Arg991Cys					IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.R966C|SMC4_uc003fdj.2_Missense_Mutation_p.R991C|SMC4_uc010hwd.2_Intron|SMC4_uc003fdl.2_Missense_Mutation_p.R694C	p.R991C	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		20	3084	+			991			Potential.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.2971C>T	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216671	0.79352	.	.	ENSG00000113810	ENST00000357388;ENST00000469762;ENST00000344722;ENST00000545277	T;T;T	0.78595	-1.19;-0.91;-1.19	5.95	5.95	0.96441	RecF/RecN/SMC (1);	0.098153	0.64402	D	0.000001	D	0.84840	0.5561	M	0.65498	2.005	0.80722	D	1	B;D;D	0.71674	0.075;0.998;0.995	B;P;P	0.57846	0.06;0.828;0.809	D	0.85445	0.1157	10	0.62326	D	0.03	-13.8211	16.6266	0.84972	0.1304:0.8696:0.0:0.0	.	966;966;991	B3KXX5;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	C	991;966;991;585	ENSP00000349961:R991C;ENSP00000417964:R966C;ENSP00000341382:R991C	ENSP00000341382:R991C	R	+	1	0	SMC4	161631544	1.000000	0.71417	0.999000	0.59377	0.656000	0.38851	3.283000	0.51701	2.829000	0.97493	0.655000	0.94253	CGC		0.333	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1				21	50	0	0	0	0.014323	0	21	50		
SAMD7	344658	broad.mit.edu	37	3	169654187	169654187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:169654187C>T	ENST00000428432.2	+	8	1491	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	SAMD7_ENST00000335556.3_Nonsense_Mutation_p.R368*|RP11-379K17.4_ENST00000487580.1_RNA	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	368	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGAGCATCTTCGAGGCACTAT	0.353																																						uc003fgd.2		NaN																	0				skin(1)	1						c.(1102-1104)CGA>TGA		sterile alpha motif domain containing 7							86.0	87.0	86.0					3																	169654187		2203	4300	6503	SO:0001587	stop_gained	344658							g.chr3:169654187C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.1102C>T	3.37:g.169654187C>T	ENSP00000391299:p.Arg368*					SAMD7_uc003fge.2_Nonsense_Mutation_p.R368*|SAMD7_uc011bpo.1_Nonsense_Mutation_p.R269*	p.R368*	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		8	1369	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		368			SAM.			Nonsense_Mutation	SNP	ENST00000428432.2	37	c.1102C>T	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	C	39	7.354223	0.98231	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	.	.	.	5.34	3.16	0.36331	.	0.078008	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-12.3837	8.8482	0.35184	0.1413:0.7286:0.0:0.1301	.	.	.	.	X	368	.	ENSP00000334668:R368X	R	+	1	2	SAMD7	171136881	0.998000	0.40836	0.996000	0.52242	0.819000	0.46315	2.577000	0.46042	1.235000	0.43724	0.491000	0.48974	CGA		0.353	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1		NM_182610		15	91	0	0	0	0.008871	0	15	91		
FETUB	26998	broad.mit.edu	37	3	186370280	186370280	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:186370280G>A	ENST00000265029.3	+	7	1110	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	FETUB_ENST00000382134.3_Missense_Mutation_p.E272K|FETUB_ENST00000539949.1_Missense_Mutation_p.E189K|FETUB_ENST00000450521.1_Missense_Mutation_p.E337K|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382136.3_Missense_Mutation_p.E300K	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	337					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TCCCCAGGGAGAAACCCTGGA	0.522																																						uc010hyq.2		NaN																	0				ovary(1)|lung(1)	2						c.(1009-1011)GAA>AAA		fetuin B precursor							79.0	88.0	85.0					3																	186370280		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186370280G>A	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.1009G>A	3.37:g.186370280G>A	ENSP00000265029:p.Glu337Lys					FETUB_uc011brz.1_Missense_Mutation_p.E189K|FETUB_uc003fqn.2_Missense_Mutation_p.E337K|FETUB_uc003fqo.2_Missense_Mutation_p.E232K|FETUB_uc010hyr.2_Missense_Mutation_p.E300K|FETUB_uc010hys.2_Missense_Mutation_p.E189K|FETUB_uc003fqp.3_Missense_Mutation_p.E272K	p.E337K	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	8	1270	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		337					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.1009G>A	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081616	0.36758	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.72	2.92	0.33932	.	0.920925	0.09164	N	0.839795	T	0.47097	0.1427	L	0.56769	1.78	0.09310	N	1	P;P;P	0.49090	0.919;0.919;0.567	B;P;B	0.44647	0.324;0.456;0.076	T	0.35025	-0.9805	10	0.62326	D	0.03	-4.9398	7.0633	0.25137	0.2049:0.0:0.7951:0.0	.	300;272;337	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	K	337;189;337;272;300	ENSP00000404288:E337K;ENSP00000443704:E189K;ENSP00000265029:E337K;ENSP00000371569:E272K;ENSP00000371571:E300K	ENSP00000265029:E337K	E	+	1	0	FETUB	187852974	0.302000	0.24454	0.041000	0.18516	0.639000	0.38242	0.704000	0.25661	0.714000	0.32081	0.655000	0.94253	GAA		0.522	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1		NM_014375		17	98	0	0	0	0.012319	0	17	98		
RFC4	5984	broad.mit.edu	37	3	186509528	186509528	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:186509528T>C	ENST00000392481.2	-	8	1068	c.787A>G	c.(787-789)Aca>Gca	p.T263A	RFC4_ENST00000296273.2_Missense_Mutation_p.T263A|RFC4_ENST00000433496.1_Missense_Mutation_p.T263A	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	263					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GCAATGTCTGTAATCACTTTC	0.373																																						uc003fqz.2		NaN																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(787-789)ACA>GCA		replication factor C 4							132.0	130.0	131.0					3																	186509528		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186509528T>C		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.787A>G	3.37:g.186509528T>C	ENSP00000376272:p.Thr263Ala					RFC4_uc011bsc.1_Missense_Mutation_p.T263A|RFC4_uc011bsd.1_Missense_Mutation_p.T263A	p.T263A	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	8	1010	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		263					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.787A>G	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.526426	0.27299	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000417876	T;T;T;T	0.41065	1.02;1.03;1.03;1.01	5.73	5.73	0.89815	.	0.095635	0.64402	D	0.000001	T	0.30417	0.0764	N	0.26092	0.79	0.44677	D	0.997662	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.09465	-1.0673	10	0.19590	T	0.45	-12.1084	13.9712	0.64242	0.0:0.0:0.0:1.0	.	263;263	B4DM41;P35249	.;RFC4_HUMAN	A	263;263;263;38	ENSP00000399769:T263A;ENSP00000376272:T263A;ENSP00000296273:T263A;ENSP00000401429:T38A	ENSP00000296273:T263A	T	-	1	0	RFC4	187992222	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.616000	0.61197	2.174000	0.68829	0.528000	0.53228	ACA		0.373	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1		NM_002916		3	126	0	0	0	0.004672	0	3	126		
TNIP2	79155	broad.mit.edu	37	4	2746230	2746230	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr4:2746230G>A	ENST00000315423.7	-	5	996	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	TNIP2_ENST00000503235.1_Missense_Mutation_p.L221F|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000510267.1_Missense_Mutation_p.L197F	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGTAAGCGAGAATCTGAAGA	0.552																																						uc003gfg.2		NaN																	0				central_nervous_system(1)	1						c.(910-912)CTC>TTC		A20-binding inhibitor of NF-kappaB activation 2							117.0	123.0	121.0					4																	2746230		2203	4300	6503	SO:0001583	missense	79155					cytosol	protein binding	g.chr4:2746230G>A	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.910C>T	4.37:g.2746230G>A	ENSP00000321203:p.Leu304Phe					TNIP2_uc003gff.2_Missense_Mutation_p.L197F|TNIP2_uc003gfh.2_Missense_Mutation_p.L221F	p.L304F	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	997	-			304			Potential.			Missense_Mutation	SNP	ENST00000315423.7	37	c.910C>T	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525931	0.64860	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.53423	0.62;0.62;0.62	5.81	5.81	0.92471	.	0.067205	0.64402	D	0.000011	T	0.66076	0.2753	M	0.70595	2.14	0.25778	N	0.984763	D;D	0.65815	0.995;0.991	P;P	0.59288	0.855;0.72	T	0.61549	-0.7040	10	0.56958	D	0.05	-11.7763	19.0611	0.93093	0.0:0.0:1.0:0.0	.	221;304	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	F	197;304;221	ENSP00000427613:L197F;ENSP00000321203:L304F;ENSP00000426314:L221F	ENSP00000321203:L304F	L	-	1	0	TNIP2	2716028	1.000000	0.71417	0.895000	0.35142	0.776000	0.43924	4.459000	0.60102	2.760000	0.94817	0.555000	0.69702	CTC		0.552	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5		NM_024309		23	44	0	0	0	0.008361	0	23	44		
RASL11B	65997	broad.mit.edu	37	4	53728708	53728708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr4:53728708G>A	ENST00000248706.3	+	1	252	c.34G>A	c.(34-36)Gag>Aag	p.E12K		NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CACCATCGCCGAGTACCCCGC	0.731																																						uc003gzt.2		NaN																	0				central_nervous_system(1)	1						c.(34-36)GAG>AAG		RAS-like family 11 member B							14.0	17.0	16.0					4																	53728708		2182	4277	6459	SO:0001583	missense	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53728708G>A	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.34G>A	4.37:g.53728708G>A	ENSP00000248706:p.Glu12Lys						p.E12K	NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		1	214	+			12						Missense_Mutation	SNP	ENST00000248706.3	37	c.34G>A	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	G	37	6.472113	0.97594	.	.	ENSG00000128045	ENST00000248706	T	0.70869	-0.52	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.77819	-0.2446	10	0.62326	D	0.03	.	17.1226	0.86705	0.0:0.0:1.0:0.0	.	12	Q9BPW5	RSLBB_HUMAN	K	12	ENSP00000248706:E12K	ENSP00000248706:E12K	E	+	1	0	RASL11B	53423465	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.703000	0.68340	2.372000	0.80975	0.579000	0.79373	GAG		0.731	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2		NM_023940		7	25	0	0	0	0.00308	0	7	25		
PTPN13	5783	broad.mit.edu	37	4	87622590	87622590	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr4:87622590C>G	ENST00000411767.2	+	7	894	c.831C>G	c.(829-831)ttC>ttG	p.F277L	PTPN13_ENST00000511467.1_Missense_Mutation_p.F277L|PTPN13_ENST00000436978.1_Missense_Mutation_p.F277L|PTPN13_ENST00000427191.2_Missense_Mutation_p.F277L|PTPN13_ENST00000316707.6_Missense_Mutation_p.F277L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	277					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTTACCAGTTCAAAACTAGTG	0.393																																						uc003hpz.2		NaN																	0				ovary(4)|breast(1)|kidney(1)	6						c.(829-831)TTC>TTG		protein tyrosine phosphatase, non-receptor type							50.0	47.0	48.0					4																	87622590		1823	4077	5900	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87622590C>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.831C>G	4.37:g.87622590C>G	ENSP00000407249:p.Phe277Leu					PTPN13_uc003hpy.2_Missense_Mutation_p.F277L|PTPN13_uc003hqa.2_Missense_Mutation_p.F277L|PTPN13_uc003hqb.2_Missense_Mutation_p.F277L	p.F277L	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1311	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	277					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.831C>G	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	6.318	0.426691	0.11987	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.89	2.04	0.26737	.	0.258860	0.27600	N	0.018642	T	0.16811	0.0404	L	0.34521	1.04	0.27212	N	0.959879	B;B;B;B	0.19935	0.04;0.003;0.001;0.002	B;B;B;B	0.19391	0.025;0.002;0.001;0.002	T	0.20140	-1.0284	10	0.10902	T	0.67	.	4.4832	0.11776	0.0:0.3896:0.1653:0.4451	.	277;277;277;277	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	L	277;277;277;277;277;245	ENSP00000408368:F277L;ENSP00000394794:F277L;ENSP00000322675:F277L;ENSP00000407249:F277L;ENSP00000426626:F277L	ENSP00000322675:F277L	F	+	3	2	PTPN13	87841614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.763000	0.26517	0.751000	0.32900	0.557000	0.71058	TTC		0.393	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1				7	11	0	0	0	0.004482	0	7	11		
PALLD	23022	broad.mit.edu	37	4	169433469	169433469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr4:169433469C>G	ENST00000505667.1	+	2	987	c.814C>G	c.(814-816)Cga>Gga	p.R272G	PALLD_ENST00000261509.6_Missense_Mutation_p.R272G|PALLD_ENST00000333488.4_Missense_Mutation_p.R149G|PALLD_ENST00000335742.7_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	272	Ig-like C2-type 1.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGCTGCACCTCGATTCATCCA	0.567									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NaN																	0				ovary(1)	1						c.(814-816)CGA>GGA		palladin isoform 2							53.0	49.0	51.0					4																	169433469		2203	4300	6503	SO:0001583	missense	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169433469C>G	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.814C>G	4.37:g.169433469C>G	ENSP00000425556:p.Arg272Gly					PALLD_uc003iru.2_Missense_Mutation_p.R272G	p.R272G	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	1025	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	272			Ig-like C2-type 1.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.814C>G	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383743	0.61845	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.24	1.44	0.22558	.	0.000000	0.27932	U	0.017279	T	0.74504	0.3725	L	0.60845	1.875	0.21861	N	0.999504	D;D	0.65815	0.994;0.995	P;D	0.67382	0.794;0.951	T	0.68135	-0.5489	10	0.17369	T	0.5	.	15.248	0.73521	0.454:0.546:0.0:0.0	.	272;272	B7ZMM5;B2RTX2	.;.	G	272;272;251;149	ENSP00000261509:R272G;ENSP00000425556:R272G;ENSP00000423063:R251G;ENSP00000328945:R149G	ENSP00000261509:R272G	R	+	1	2	PALLD	169670044	0.003000	0.15002	0.022000	0.16811	0.460000	0.32559	0.749000	0.26320	-0.051000	0.13334	0.467000	0.42956	CGA		0.567	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1		NM_016081		4	41	0	0	0	0.001168	0	4	41		
SLC6A18	348932	broad.mit.edu	37	5	1245984	1245984	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:1245984G>C	ENST00000324642.3	+	12	1801	c.1678G>C	c.(1678-1680)Gag>Cag	p.E560Q		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	560					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCGCGTCAGGAGAAGCTCTA	0.706																																						uc003jby.1		NaN																	0				ovary(1)	1						c.(1678-1680)GAG>CAG		solute carrier family 6, member 18							20.0	22.0	21.0					5																	1245984		2200	4297	6497	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1245984G>C	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1678G>C	5.37:g.1245984G>C	ENSP00000323549:p.Glu560Gln						p.E560Q	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		12	1801	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		560			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.1678G>C	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	3.957	-0.011072	0.07727	.	.	ENSG00000164363	ENST00000324642	T	0.74209	-0.82	4.3	3.39	0.38822	.	0.195775	0.33327	N	0.005034	T	0.63414	0.2509	L	0.45285	1.41	0.80722	D	1	B	0.32324	0.364	B	0.34138	0.176	T	0.54316	-0.8312	10	0.14252	T	0.57	.	10.1822	0.42975	0.0:0.2037:0.7963:0.0	.	560	Q96N87	S6A18_HUMAN	Q	560	ENSP00000323549:E560Q	ENSP00000323549:E560Q	E	+	1	0	SLC6A18	1298984	1.000000	0.71417	0.958000	0.39756	0.085000	0.17905	3.761000	0.55242	0.887000	0.36136	0.305000	0.20034	GAG		0.706	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3		NM_182632		5	34	0	0	0	0.001168	0	5	34		
CCT5	22948	broad.mit.edu	37	5	10258507	10258507	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:10258507G>A	ENST00000280326.4	+	6	1153	c.733G>A	c.(733-735)Gat>Aat	p.D245N	CCT5_ENST00000515390.1_Missense_Mutation_p.D190N|CCT5_ENST00000515676.1_Missense_Mutation_p.D207N|CCT5_ENST00000503026.1_Missense_Mutation_p.D224N|CCT5_ENST00000506600.1_Missense_Mutation_p.D152N	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	245					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GAAAGTGGAAGATGCGAAGAT	0.408																																						uc003jeq.2		NaN																	0				ovary(2)	2						c.(733-735)GAT>AAT		chaperonin containing TCP1, subunit 5 (epsilon)							110.0	105.0	107.0					5																	10258507		2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10258507G>A	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.733G>A	5.37:g.10258507G>A	ENSP00000280326:p.Asp245Asn					CCT5_uc011cmq.1_Missense_Mutation_p.D92N|CCT5_uc003jer.2_Missense_Mutation_p.D245N|CCT5_uc010its.2_Missense_Mutation_p.D245N|CCT5_uc011cmr.1_Missense_Mutation_p.D190N|CCT5_uc011cms.1_Missense_Mutation_p.D207N|CCT5_uc011cmt.1_Missense_Mutation_p.D152N	p.D245N	NM_012073	NP_036205	P48643	TCPE_HUMAN			6	904	+			245					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.733G>A	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	G	9.064	0.995192	0.19043	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.59	-5.89	0.02282	.	0.353967	0.35235	N	0.003353	T	0.32071	0.0817	N	0.05230	-0.09	0.50467	D	0.999879	B;B;B;B;B;B	0.13594	0.001;0.002;0.001;0.008;0.008;0.008	B;B;B;B;B;B	0.26614	0.007;0.027;0.009;0.071;0.071;0.071	T	0.37979	-0.9682	10	0.02654	T	1	-6.7097	15.3554	0.74423	0.6202:0.0:0.3798:0.0	.	152;190;94;243;245;245	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	N	245;224;190;218;207;152	ENSP00000280326:D245N;ENSP00000423318:D224N;ENSP00000426923:D190N;ENSP00000427297:D207N;ENSP00000423052:D152N	ENSP00000280326:D245N	D	+	1	0	CCT5	10311507	0.977000	0.34250	0.001000	0.08648	0.889000	0.51656	1.226000	0.32563	-1.173000	0.02758	-0.156000	0.13503	GAT		0.408	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2				17	109	0	0	0	0.010504	0	17	109		
DNAH5	1767	broad.mit.edu	37	5	13708301	13708301	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:13708301G>A	ENST00000265104.4	-	76	13373	c.13269C>T	c.(13267-13269)atC>atT	p.I4423I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4423					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCGCTCATGATGATGGTGC	0.458									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(13267-13269)ATC>ATT		dynein, axonemal, heavy chain 5							229.0	201.0	211.0					5																	13708301		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13708301G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13269C>T	5.37:g.13708301G>A						DNAH5_uc003jfc.2_Silent_p.I591I	p.I4423I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			76	13311	-	Lung NSC(4;0.00476)		4423					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.13269C>T	CCDS3882.1																																																																																				0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		73	198	0	0	0	0.01441	0	73	198		
UGT3A1	133688	broad.mit.edu	37	5	35965895	35965895	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:35965895C>T	ENST00000274278.3	-	4	793	c.436G>A	c.(436-438)Gca>Aca	p.A146T	UGT3A1_ENST00000503189.1_Missense_Mutation_p.A146T|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A112T|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A92T	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	146						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATCAAATGCTTCAACAAAT	0.383																																						uc003jjv.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(436-438)GCA>ACA		UDP glycosyltransferase 3 family, polypeptide A1							61.0	59.0	60.0					5																	35965895		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965895C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.436G>A	5.37:g.35965895C>T	ENSP00000274278:p.Ala146Thr					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.A146T|UGT3A1_uc011cor.1_Missense_Mutation_p.A112T|UGT3A1_uc003jjy.1_Missense_Mutation_p.A92T	p.A146T	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	593	-	all_lung(31;0.000197)		146			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.436G>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261502	0.23051	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	3.21	-6.42	0.01932	.	0.762054	0.11632	N	0.544661	T	0.38214	0.1032	L	0.28274	0.84	0.09310	N	1	B;B;B;B	0.25667	0.131;0.037;0.066;0.005	B;B;B;B	0.22152	0.038;0.021;0.033;0.023	T	0.12863	-1.0531	10	0.46703	T	0.11	.	4.416	0.11455	0.3042:0.3805:0.0:0.3152	.	112;146;92;146	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	T	146;146;112;92	ENSP00000274278:A146T;ENSP00000427079:A146T;ENSP00000426100:A112T;ENSP00000328033:A92T	ENSP00000274278:A146T	A	-	1	0	UGT3A1	36001652	0.000000	0.05858	0.000000	0.03702	0.486000	0.33341	-0.795000	0.04580	-1.864000	0.01148	0.313000	0.20887	GCA		0.383	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2		NM_152404		21	36	0	0	0	0.003954	0	21	36		
RICTOR	253260	broad.mit.edu	37	5	38952313	38952313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:38952313C>A	ENST00000357387.3	-	30	3142	c.3112G>T	c.(3112-3114)Gaa>Taa	p.E1038*	RICTOR_ENST00000503698.1_5'Flank|RICTOR_ENST00000296782.5_Nonsense_Mutation_p.E1038*	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GGCACAGATTCACTTTCACTA	0.343																																						uc003jlp.2		NaN																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(3112-3114)GAA>TAA		rapamycin-insensitive companion of mTOR							98.0	94.0	95.0					5																	38952313		2203	4300	6503	SO:0001587	stop_gained	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38952313C>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3112G>T	5.37:g.38952313C>A	ENSP00000349959:p.Glu1038*					RICTOR_uc003jlo.2_Nonsense_Mutation_p.E1038*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.E753*	p.E1038*	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			30	3136	-	all_lung(31;0.000396)		1038			Ser-rich.			Nonsense_Mutation	SNP	ENST00000357387.3	37	c.3112G>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	41	8.763844	0.98945	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	.	.	.	5.66	5.66	0.87406	.	0.087947	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6802	19.7571	0.96298	0.0:1.0:0.0:0.0	.	.	.	.	X	1038	.	ENSP00000296782:E1038X	E	-	1	0	RICTOR	38988070	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.456000	0.80751	2.678000	0.91216	0.460000	0.39030	GAA		0.343	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1		NM_152756		21	23	1	0	1.1804e-14	0.003954	1.30089e-14	21	23		
PPAP2A	8611	broad.mit.edu	37	5	54721117	54721117	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:54721117C>G	ENST00000307259.8	-	6	1192	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	SKIV2L2_ENST00000230640.5_3'UTR|PPAP2A_ENST00000264775.5_Missense_Mutation_p.E259Q	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	258					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TCTTTTCTTTCTTTAAAAGAA	0.378																																						uc003jqa.2		NaN																	0				ovary(2)	2						c.(772-774)GAA>CAA		phosphatidic acid phosphatase type 2A isoform 1							126.0	118.0	121.0					5																	54721117		2203	4300	6503	SO:0001583	missense	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54721117C>G	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.772G>C	5.37:g.54721117C>G	ENSP00000302229:p.Glu258Gln					SKIV2L2_uc003jpy.3_3'UTR|SKIV2L2_uc011cqi.1_3'UTR|PPAP2A_uc003jpz.2_Missense_Mutation_p.E259Q|PPAP2A_uc003jqb.2_RNA	p.E258Q	NM_003711	NP_003702	O14494	LPP1_HUMAN			6	1188	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	258			Cytoplasmic (Potential).		B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	c.772G>C	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	C	9.985	1.229317	0.22542	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.30714	1.52;1.52	5.66	4.78	0.61160	.	0.553787	0.18768	N	0.131685	T	0.19127	0.0459	N	0.19112	0.55	0.27227	N	0.9595	B;B	0.16166	0.003;0.016	B;B	0.11329	0.004;0.006	T	0.09250	-1.0683	10	0.13853	T	0.58	-21.0036	12.7595	0.57356	0.0:0.6175:0.3825:0.0	.	258;259	O14494;G3XA95	LPP1_HUMAN;.	Q	259;258	ENSP00000264775:E259Q;ENSP00000302229:E258Q	ENSP00000264775:E259Q	E	-	1	0	PPAP2A	54756874	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.362000	0.59467	2.657000	0.90304	0.655000	0.94253	GAA		0.378	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1				6	39	0	0	0	0.00308	0	6	39		
PPAP2A	8611	broad.mit.edu	37	5	54721830	54721830	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:54721830C>G	ENST00000307259.8	-	5	1007	c.587G>C	c.(586-588)aGa>aCa	p.R196T	PPAP2A_ENST00000264775.5_Missense_Mutation_p.R197T	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	196					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GCGTAAGAGTCTTGCCCAGTC	0.378																																						uc003jqa.2		NaN																	0				ovary(2)	2						c.(586-588)AGA>ACA		phosphatidic acid phosphatase type 2A isoform 1							83.0	81.0	82.0					5																	54721830		2203	4300	6503	SO:0001583	missense	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54721830C>G	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.587G>C	5.37:g.54721830C>G	ENSP00000302229:p.Arg196Thr					PPAP2A_uc003jpz.2_Missense_Mutation_p.R197T|PPAP2A_uc003jqb.2_RNA	p.R196T	NM_003711	NP_003702	O14494	LPP1_HUMAN			5	1003	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	196			Cytoplasmic (Potential).		B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	c.587G>C	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058387	0.93846	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.35973	1.28;1.29	5.65	5.65	0.86999	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	T	0.70999	-0.4719	10	0.87932	D	0	-21.5052	20.0781	0.97751	0.0:1.0:0.0:0.0	.	196;197	O14494;G3XA95	LPP1_HUMAN;.	T	197;196	ENSP00000264775:R197T;ENSP00000302229:R196T	ENSP00000264775:R197T	R	-	2	0	PPAP2A	54757587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.817000	0.96982	0.563000	0.77884	AGA		0.378	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1				11	55	0	0	0	0.001855	0	11	55		
PPAP2A	8611	broad.mit.edu	37	5	54737722	54737722	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:54737722G>C	ENST00000307259.8	-	4	926	c.506C>G	c.(505-507)tCa>tGa	p.S169*	PPAP2A_ENST00000515132.1_5'Flank|PPAP2A_ENST00000264775.5_Nonsense_Mutation_p.S170*	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	169					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				AGAGTGGCCTGAATAGAAGGA	0.393																																						uc003jqa.2		NaN																	0				ovary(2)	2						c.(505-507)TCA>TGA		phosphatidic acid phosphatase type 2A isoform 1							178.0	154.0	162.0					5																	54737722		2203	4300	6503	SO:0001587	stop_gained	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54737722G>C	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.506C>G	5.37:g.54737722G>C	ENSP00000302229:p.Ser169*					PPAP2A_uc003jpz.2_Nonsense_Mutation_p.S170*|PPAP2A_uc003jqb.2_RNA	p.S169*	NM_003711	NP_003702	O14494	LPP1_HUMAN			4	922	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	169			Helical; (Potential).		B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Nonsense_Mutation	SNP	ENST00000307259.8	37	c.506C>G	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	G	36	5.810367	0.96975	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	.	.	.	5.67	5.67	0.87782	.	0.112091	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.5064	15.6238	0.76833	0.0:0.0:1.0:0.0	.	.	.	.	X	170;169	.	ENSP00000264775:S170X	S	-	2	0	PPAP2A	54773479	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	6.835000	0.75344	2.834000	0.97654	0.557000	0.71058	TCA		0.393	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1				26	45	0	0	0	0.008361	0	26	45		
CHD1	1105	broad.mit.edu	37	5	98215419	98215419	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:98215419G>C	ENST00000284049.3	-	22	3223	c.3074C>G	c.(3073-3075)tCa>tGa	p.S1025*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1025					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATCCATATTTGAGAAGTTGGC	0.343																																						uc003knf.2		NaN																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(3073-3075)TCA>TGA		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						50.0	45.0	47.0					5																	98215419		2200	4292	6492	SO:0001587	stop_gained	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98215419G>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3074C>G	5.37:g.98215419G>C	ENSP00000284049:p.Ser1025*						p.S1025*	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	22	3222	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1025					Q17RZ3	Nonsense_Mutation	SNP	ENST00000284049.3	37	c.3074C>G	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	43	9.923337	0.99297	.	.	ENSG00000153922	ENST00000284049	.	.	.	5.54	4.66	0.58398	.	0.000000	0.29932	U	0.010833	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.026	0.80545	0.0:0.0:0.8643:0.1357	.	.	.	.	X	1025	.	ENSP00000284049:S1025X	S	-	2	0	CHD1	98243319	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	1.462000	0.47948	0.655000	0.94253	TCA		0.343	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		NM_001270		3	10	0	0	0	0.009096	0	3	10		
WDR36	134430	broad.mit.edu	37	5	110428137	110428137	+	Missense_Mutation	SNP	G	G	C	rs200639527		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:110428137G>C	ENST00000513710.2	+	1	155	c.151G>C	c.(151-153)Gct>Cct	p.A51P	WDR36_ENST00000506538.2_Missense_Mutation_p.A51P|CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000505303.1_5'UTR			Q8NI36	WDR36_HUMAN	WD repeat domain 36	51					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCTGAGAGGAGCTGGGATCGC	0.602																																						uc003kpd.2		NaN																	0				ovary(1)|skin(1)	2						c.(151-153)GCT>CCT		WD repeat domain 36							49.0	56.0	54.0					5																	110428137		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110428137G>C	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.151G>C	5.37:g.110428137G>C	ENSP00000424628:p.Ala51Pro					WDR36_uc010jbu.2_RNA	p.A51P	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	1	268	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	51					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.151G>C	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887138	0.33348	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.66460	-0.21;-0.21	4.87	-7.16	0.01516	.	1.935540	0.02791	N	0.122006	T	0.42966	0.1226	N	0.08118	0	0.20403	N	0.999904	B	0.02656	0.0	B	0.04013	0.001	T	0.42327	-0.9458	10	0.87932	D	0	14.3639	7.0839	0.25247	0.43:0.1988:0.3712:0.0	.	51	Q8NI36	WDR36_HUMAN	P	51	ENSP00000423067:A51P;ENSP00000424628:A51P	ENSP00000423067:A51P	A	+	1	0	WDR36	110456036	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.562000	0.00920	-1.699000	0.01416	-0.878000	0.02970	GCT		0.602	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3		NM_139281		7	48	0	0	0	0.008291	0	7	48		
ZRSR1	7310	broad.mit.edu	37	5	112227372	112227372	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:112227372G>C	ENST00000391338.1	+	1	60	c.36G>C	c.(34-36)aaG>aaC	p.K12N	CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000545426.1_Intron|CTC-487M23.5_ENST00000602872.1_RNA|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	12						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						TTCCCAAGAAGATGACATTTC	0.478																																						uc011cvv.1		NaN																	0					0						c.(109-111)AAG>AAC		SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;																																				SO:0001583	missense	6728				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	g.chr5:112227372G>C	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.36G>C	5.37:g.112227372G>C	ENSP00000375133:p.Lys12Asn					SRP19_uc011cvu.1_Missense_Mutation_p.K22N|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron	p.K37N			P09132	SRP19_HUMAN		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)	4	366	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	Error:Variant_position_missing_in_P09132_after_alignment					B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	ENST00000391338.1	37	c.111G>C		.	.	.	.	.	.	.	.	.	.	G	3.627	-0.076243	0.07184	.	.	ENSG00000212643	ENST00000391338	.	.	.	0.437	0.437	0.16555	.	3.067210	0.00575	N	0.000304	T	0.30479	0.0766	.	.	.	0.09310	N	1	P	0.39094	0.659	B	0.42959	0.403	T	0.22977	-1.0201	7	0.22109	T	0.4	.	.	.	.	.	12	Q15695	U2AFL_HUMAN	N	12	.	ENSP00000375133:K12N	K	+	3	2	ZRSR1	112255271	0.062000	0.20869	0.003000	0.11579	0.010000	0.07245	0.670000	0.25157	0.524000	0.28502	0.297000	0.19635	AAG		0.478	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1		NM_005083		4	11	0	0	0	0.009096	0	4	11		
JADE2	23338	broad.mit.edu	37	5	133914845	133914845	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:133914845G>A	ENST00000282605.4	+	12	2429	c.2343G>A	c.(2341-2343)gaG>gaA	p.E781E	PHF15_ENST00000361895.2_Silent_p.E738E|PHF15_ENST00000395003.1_Silent_p.E737E|PHF15_ENST00000402835.1_3'UTR																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTGGCTGAGAGGCCCAAGG	0.622																																						uc003kzo.1		NaN																	0					0						c.(2209-2211)GAG>GAA		PHD finger protein 15							68.0	68.0	68.0					5																	133914845		2203	4300	6503	SO:0001819	synonymous_variant	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914845G>A																												ENST00000282605.4:c.2343G>A	5.37:g.133914845G>A						PHF15_uc011cxt.1_Silent_p.E781E|PHF15_uc003kzk.2_Silent_p.E797E|PHF15_uc003kzm.2_Silent_p.E738E|PHF15_uc003kzn.2_3'UTR	p.E737E	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2390	+			737						Silent	SNP	ENST00000282605.4	37	c.2211G>A																																																																																					0.622	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1				9	62	0	0	0	0.008291	0	9	62		
SEC24A	10802	broad.mit.edu	37	5	134029515	134029515	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:134029515G>A	ENST00000398844.2	+	13	2166	c.1878G>A	c.(1876-1878)ctG>ctA	p.L626L		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	626					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTTTAAGCTGATGTCTCCAA	0.498																																						uc003kzs.2		NaN																	0					0						c.(1876-1878)CTG>CTA		SEC24 related gene family, member A							96.0	95.0	96.0					5																	134029515		1937	4137	6074	SO:0001819	synonymous_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134029515G>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1878G>A	5.37:g.134029515G>A						SEC24A_uc011cxu.1_Silent_p.L390L	p.L626L	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	2166	+			626					A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	ENST00000398844.2	37	c.1878G>A	CCDS43363.1																																																																																				0.498	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1				9	48	0	0	0	0.006214	0	9	48		
ANKHD1	54882	broad.mit.edu	37	5	139916980	139916980	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:139916980C>G	ENST00000360839.2	+	31	7188	c.7034C>G	c.(7033-7035)tCt>tGt	p.S2345C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2345C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S669C|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S2345C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2345						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCCACTTCTGCCCCACCA	0.453																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(7033-7035)TCT>TGT		ANKHD1-EIF4EBP3 protein							89.0	88.0	88.0					5																	139916980		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139916980C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7034C>G	5.37:g.139916980C>G	ENSP00000354085:p.Ser2345Cys					ANKHD1_uc003lfr.2_Missense_Mutation_p.S2345C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S1101C|ANKHD1_uc003lfw.2_Missense_Mutation_p.S1000C|ANKHD1_uc010jfl.2_Missense_Mutation_p.S721C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.S499C	p.S2345C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		31	7158	+			2345					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.7034C>G	CCDS4225.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	26.8|26.8|26.8	4.767985|4.767985|4.767985	0.90020|0.90020|0.90020	.|.|.	.|.|.	ENSG00000131503|ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000435794;ENST00000432301|ENST00000421706|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	.|.|T;T;T;T;T;T;T	.|.|0.68765	.|.|-0.3;-0.35;1.75;1.75;1.29;-0.35;0.74	5.78|5.78|5.78	5.78|5.78|5.78	0.91487|0.91487|0.91487	.|.|.	.|.|0.440160	.|.|0.25566	.|.|N	.|.|0.029781	T|T|T	0.79540|0.79540|0.79540	0.4463|0.4463|0.4463	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.42479|0.42479|0.42479	D|D|D	0.992854|0.992854|0.992854	.|.|D;D;D;D;D;D	.|.|0.76494	.|.|0.994;0.999;0.997;0.997;0.976;0.989	.|.|D;D;D;P;P;D	.|.|0.74348	.|.|0.962;0.959;0.983;0.808;0.628;0.971	T|T|T	0.79555|0.79555|0.79555	-0.1755|-0.1755|-0.1755	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	.|.|.	20.3754|20.3754|20.3754	0.98918|0.98918|0.98918	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|669;792;669;2362;2345;2345	.|.|Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.|.|.;.;.;.;.;ANKH1_HUMAN	L|V|C	835;736|3|2345;2345;2362;1018;884;669;2345;373	.|.|ENSP00000354085:S2345C;ENSP00000297183:S2345C;ENSP00000393204:S1018C;ENSP00000390034:S884C;ENSP00000437687:S669C;ENSP00000432016:S2345C;ENSP00000396882:S373C	.|.|ENSP00000396882:S373C	F|L|S	+|+|+	3|1|2	2|2|0	ANKHD1|ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139897164|139897164|139897164	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	7.130000|7.130000|7.130000	0.77235|0.77235|0.77235	2.894000|2.894000|2.894000	0.99253|0.99253|0.99253	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	TTC|CTG|TCT		0.453	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		25	91	0	0	0	0.010818	0	25	91		
APBB3	10307	broad.mit.edu	37	5	139941016	139941016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:139941016C>A	ENST00000357560.4	-	9	1209	c.766G>T	c.(766-768)Gag>Tag	p.E256*	APBB3_ENST00000354402.5_Nonsense_Mutation_p.E263*|APBB3_ENST00000356738.2_Nonsense_Mutation_p.E261*|APBB3_ENST00000508496.2_Nonsense_Mutation_p.E33*|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000511201.2_Nonsense_Mutation_p.E254*|APBB3_ENST00000412920.3_Nonsense_Mutation_p.E254*|APBB3_ENST00000358580.5_Nonsense_Mutation_p.E256*	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	256	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGACCTCTACTCGCTCT	0.547																																						uc003lgd.1		NaN																	0				ovary(2)	2						c.(781-783)GAG>TAG		amyloid beta precursor protein-binding, family							141.0	127.0	132.0					5																	139941016		2203	4300	6503	SO:0001587	stop_gained	10307					actin cytoskeleton|cytoplasm		g.chr5:139941016C>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.766G>T	5.37:g.139941016C>A	ENSP00000350171:p.Glu256*					APBB3_uc003lgb.1_Nonsense_Mutation_p.E33*|APBB3_uc003lgc.1_Nonsense_Mutation_p.E33*|APBB3_uc003lge.1_Nonsense_Mutation_p.E254*|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Nonsense_Mutation_p.E33*|APBB3_uc010jfq.1_Nonsense_Mutation_p.E33*	p.E261*	NM_133172	NP_573418	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	1140	-			256			PID 1.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Nonsense_Mutation	SNP	ENST00000357560.4	37	c.781G>T	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480804	0.63849	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920;ENST00000511201	.	.	.	5.88	5.88	0.94601	.	0.213239	0.38605	N	0.001627	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.7925	18.8203	0.92094	0.0:1.0:0.0:0.0	.	.	.	.	X	256;261;263;256;33;254;254	.	.	E	-	1	0	APBB3	139921200	0.012000	0.17670	0.904000	0.35570	0.968000	0.65278	2.272000	0.43373	2.782000	0.95742	0.655000	0.94253	GAG		0.547	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2		NM_006051		23	141	1	0	8.24728e-16	0.004656	9.17589e-16	23	141		
PCDHA12	56137	broad.mit.edu	37	5	140257094	140257094	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:140257094G>A	ENST00000398631.2	+	1	2037	c.2037G>A	c.(2035-2037)tcG>tcA	p.S679S	PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	679					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAGACGTCGTCGCGGGCCT	0.657																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NaN																	0					0						c.(2035-2037)TCG>TCA		protocadherin alpha 12 isoform 1 precursor							39.0	44.0	43.0					5																	140257094		2203	4300	6503	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140257094G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2037G>A	5.37:g.140257094G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.S679S	p.S679S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2164	+			679			Extracellular (Potential).		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.2037G>A	CCDS47285.1																																																																																				0.657	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2		NM_018903		3	37	0	0	0	0.004672	0	3	37		
PCDHGA10	56106	broad.mit.edu	37	5	140795020	140795020	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:140795020G>A	ENST00000398610.2	+	1	2278	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	760					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATTCCCACGAGGTCTCTCT	0.602																																						uc003lkl.1		NaN																	0					0						c.(2278-2280)GAG>AAG		protocadherin gamma subfamily A, 10 isoform 1							91.0	99.0	96.0					5																	140795020		2203	4300	6503	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140795020G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2278G>A	5.37:g.140795020G>A	ENSP00000381611:p.Glu760Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.E760K|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.E760K	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2278	+			760			Cytoplasmic (Potential).		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.2278G>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	19.22	3.784685	0.70222	.	.	ENSG00000253846	ENST00000398610	T	0.46451	0.87	5.42	5.42	0.78866	.	.	.	.	.	T	0.49270	0.1547	M	0.82823	2.61	0.26438	N	0.975811	P;P	0.52692	0.955;0.847	P;B	0.44772	0.46;0.142	T	0.54221	-0.8326	9	0.39692	T	0.17	.	9.8946	0.41311	0.153:0.0:0.847:0.0	.	760;760	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	K	760	ENSP00000381611:E760K	ENSP00000381611:E760K	E	+	1	0	PCDHGA10	140775204	0.993000	0.37304	0.999000	0.59377	0.968000	0.65278	2.766000	0.47629	2.550000	0.86006	0.655000	0.94253	GAG		0.602	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1		NM_018913		56	107	0	0	0	0.01441	0	56	107		
PCDH12	51294	broad.mit.edu	37	5	141334867	141334867	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:141334867G>C	ENST00000231484.3	-	1	3760	c.2550C>G	c.(2548-2550)ttC>ttG	p.F850L	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	850					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGATGGTTGAAAAGGAGGT	0.627																																						uc003llx.2		NaN																	0				ovary(3)	3						c.(2548-2550)TTC>TTG		protocadherin 12 precursor							79.0	75.0	77.0					5																	141334867		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141334867G>C	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2550C>G	5.37:g.141334867G>C	ENSP00000231484:p.Phe850Leu						p.F850L	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3761	-		all_hematologic(541;0.0999)	850			Cytoplasmic (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2550C>G	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697135	0.48202	.	.	ENSG00000113555	ENST00000231484	T	0.51574	0.7	5.07	1.02	0.19986	.	0.303002	0.32884	N	0.005529	T	0.37265	0.0997	M	0.62723	1.935	0.21604	N	0.999625	B	0.14438	0.01	B	0.14023	0.01	T	0.19877	-1.0292	10	0.26408	T	0.33	.	5.2069	0.15295	0.2596:0.1478:0.5926:0.0	.	850	Q9NPG4	PCD12_HUMAN	L	850	ENSP00000231484:F850L	ENSP00000231484:F850L	F	-	3	2	PCDH12	141315051	0.935000	0.31712	0.578000	0.28575	0.816000	0.46133	1.244000	0.32778	0.301000	0.22738	0.561000	0.74099	TTC		0.627	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1		NM_016580		18	70	0	0	0	0.014323	0	18	70		
PCDH12	51294	broad.mit.edu	37	5	141336269	141336269	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:141336269G>A	ENST00000231484.3	-	1	2358	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	383	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGTGTCCTGAATCCAAGTC	0.507																																						uc003llx.2		NaN																	0				ovary(3)	3						c.(1147-1149)TCA>TTA		protocadherin 12 precursor							123.0	116.0	118.0					5																	141336269		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336269G>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1148C>T	5.37:g.141336269G>A	ENSP00000231484:p.Ser383Leu						p.S383L	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2359	-		all_hematologic(541;0.0999)	383			Cadherin 4.|Extracellular (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1148C>T	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511437	0.64522	.	.	ENSG00000113555	ENST00000231484	T	0.49432	0.78	4.92	4.92	0.64577	Cadherin (4);Cadherin-like (1);	0.078757	0.53938	D	0.000051	T	0.62539	0.2436	L	0.53249	1.67	0.44531	D	0.997487	D	0.61080	0.989	D	0.64595	0.927	T	0.65397	-0.6178	10	0.87932	D	0	.	15.6595	0.77174	0.0:0.0:1.0:0.0	.	383	Q9NPG4	PCD12_HUMAN	L	383	ENSP00000231484:S383L	ENSP00000231484:S383L	S	-	2	0	PCDH12	141316453	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.465000	0.73538	2.558000	0.86282	0.561000	0.74099	TCA		0.507	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1		NM_016580		20	94	0	0	0	0.00278	0	20	94		
SLC36A3	285641	broad.mit.edu	37	5	150675819	150675819	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:150675819A>G	ENST00000335230.3	-	3	641	c.230T>C	c.(229-231)gTc>gCc	p.V77A	SLC36A3_ENST00000377713.3_Missense_Mutation_p.V77A	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	77						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAAGGCTGACAGGACCGAC	0.597																																						uc003ltw.2		NaN																	0				ovary(2)|skin(1)	3						c.(229-231)GTC>GCC		solute carrier family 36, member 3 isoform 2							58.0	50.0	53.0					5																	150675819		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150675819A>G	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.230T>C	5.37:g.150675819A>G	ENSP00000334750:p.Val77Ala					GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.V21A|SLC36A3_uc003ltx.2_Missense_Mutation_p.V77A	p.V77A	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	649	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	77			Helical; (Potential).		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.230T>C	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.162593	0.57368	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02301	4.35;4.35	4.44	4.44	0.53790	.	1.081270	0.07023	N	0.827163	T	0.04227	0.0117	L	0.43646	1.37	0.38919	D	0.957706	B;B;B	0.27068	0.096;0.035;0.167	B;B;B	0.29440	0.061;0.102;0.061	T	0.42666	-0.9438	10	0.56958	D	0.05	.	13.5116	0.61515	1.0:0.0:0.0:0.0	.	77;77;21	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	A	77	ENSP00000334750:V77A;ENSP00000366942:V77A	ENSP00000334750:V77A	V	-	2	0	SLC36A3	150656012	1.000000	0.71417	0.884000	0.34674	0.969000	0.65631	5.032000	0.64140	1.868000	0.54150	0.477000	0.44152	GTC		0.597	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1		NM_181774		7	30	0	0	0	0.00308	0	7	30		
NOP16	51491	broad.mit.edu	37	5	175811345	175811345	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:175811345G>C	ENST00000389158.5	-	5	859	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E	NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Intron			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	142						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GGGGTATCTTGATAGTAATTC	0.448																																						uc011dfl.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(424-426)CAA>GAA		NOP16 nucleolar protein homolog							125.0	123.0	124.0					5																	175811345		1884	4120	6004	SO:0001583	missense	51491					nucleolus		g.chr5:175811345G>C		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.424C>G	5.37:g.175811345G>C	ENSP00000373810:p.Gln142Glu					NOP16_uc003med.2_Intron|NOP16_uc003mee.2_Intron	p.Q142E	NM_016391	NP_057475	Q9Y3C1	NOP16_HUMAN			5	424	-			142					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.424C>G	CCDS43403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.415235|4.415235	0.83449|0.83449	.|.	.|.	ENSG00000048162|ENSG00000048162	ENST00000341213|ENST00000389158	.|.	.|.	.|.	5.87|5.87	4.99|4.99	0.66335|0.66335	.|.	.|.	.|.	.|.	.|.	T|T	0.79197|0.79197	0.4405|0.4405	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.15484	.|0.013	T|T	0.79514|0.79514	-0.1772|-0.1772	6|8	0.56958|0.87932	D|D	0.05|0	-8.5039|-8.5039	17.3626|17.3626	0.87355|0.87355	0.0:0.125:0.875:0.0|0.0:0.125:0.875:0.0	.|.	.|142	.|Q9Y3C1	.|NOP16_HUMAN	M|E	116|142	.|.	ENSP00000340662:I116M|ENSP00000373810:Q142E	I|Q	-|-	3|1	3|0	NOP16|NOP16	175743951|175743951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.100000|8.100000	0.89544|0.89544	1.597000|1.597000	0.50072|0.50072	0.655000|0.655000	0.94253|0.94253	ATC|CAA		0.448	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1		NM_016391		6	45	0	0	0	0.001168	0	6	45		
GPLD1	2822	broad.mit.edu	37	6	24486344	24486344	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:24486344C>T	ENST00000230036.1	-	2	222	c.112G>A	c.(112-114)Gag>Aag	p.E38K	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	38					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGAAGAAACTCCAGAGCTCTG	0.323																																						uc003ned.1		NaN																	0				ovary(2)|kidney(1)	3						c.(112-114)GAG>AAG		glycosylphosphatidylinositol specific							124.0	133.0	130.0					6																	24486344		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24486344C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.112G>A	6.37:g.24486344C>T	ENSP00000230036:p.Glu38Lys					GPLD1_uc010jps.1_Missense_Mutation_p.E38K|GPLD1_uc003nee.2_Missense_Mutation_p.E38K	p.E38K	NM_001503	NP_001494	P80108	PHLD_HUMAN			2	223	-			38					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.112G>A	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428589	0.43122	.	.	ENSG00000112293	ENST00000230036;ENST00000378243	T	0.42513	0.97	5.11	3.26	0.37387	.	0.240715	0.34628	N	0.003811	T	0.36552	0.0971	M	0.73962	2.25	0.38176	D	0.939488	P;P	0.42296	0.775;0.698	B;P	0.45753	0.273;0.492	T	0.32903	-0.9889	10	0.48119	T	0.1	-13.0627	13.6261	0.62165	0.0:0.7282:0.2718:0.0	.	38;38	P80108-2;P80108	.;PHLD_HUMAN	K	38	ENSP00000230036:E38K	ENSP00000230036:E38K	E	-	1	0	GPLD1	24594323	1.000000	0.71417	0.990000	0.47175	0.827000	0.46813	2.611000	0.46334	0.604000	0.29930	0.551000	0.68910	GAG		0.323	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1		NM_001503		20	129	0	0	0	0.009535	0	20	129		
HIST1H1C	3006	broad.mit.edu	37	6	26056443	26056443	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:26056443C>G	ENST00000343677.2	-	1	256	c.214G>C	c.(214-216)Gat>Cat	p.D72H		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	72	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTCTCCACATCATAGCCGGCG	0.557																																						uc003nfw.2		NaN																	0				ovary(3)|skin(2)	5						c.(214-216)GAT>CAT		histone cluster 1, H1c							87.0	95.0	92.0					6																	26056443		2203	4300	6503	SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056443C>G	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.214G>C	6.37:g.26056443C>G	ENSP00000339566:p.Asp72His						p.D72H	NM_005319	NP_005310	P16403	H12_HUMAN			1	257	-			72			H15.		A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	c.214G>C	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430009	0.62844	.	.	ENSG00000187837	ENST00000343677	T	0.10099	2.91	5.63	5.63	0.86233	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	M	0.79926	2.475	0.80722	D	1	D	0.65815	0.995	D	0.67231	0.95	T	0.02282	-1.1183	10	0.87932	D	0	-19.92	19.032	0.92961	0.0:1.0:0.0:0.0	.	72	P16403	H12_HUMAN	H	72	ENSP00000339566:D72H	ENSP00000339566:D72H	D	-	1	0	HIST1H1C	26164422	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	4.752000	0.62176	2.814000	0.96858	0.655000	0.94253	GAT		0.557	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1		NM_005319		18	87	0	0	0	0.010504	0	18	87		
HIST1H1T	3010	broad.mit.edu	37	6	26108038	26108038	+	Missense_Mutation	SNP	C	C	A	rs147905742		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:26108038C>A	ENST00000338379.4	-	1	326	c.284G>T	c.(283-285)gGa>gTa	p.G95V		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	95	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CACCAGGATTCCCTTGTTCAC	0.478																																						uc003ngj.2		NaN																	0				ovary(2)	2						c.(283-285)GGA>GTA		histone cluster 1, H1t							110.0	112.0	111.0					6																	26108038		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26108038C>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.284G>T	6.37:g.26108038C>A	ENSP00000341214:p.Gly95Val						p.G95V	NM_005323	NP_005314	P22492	H1T_HUMAN			1	327	-			95			H15.		Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.284G>T	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	13.27	2.188261	0.38609	.	.	ENSG00000187475	ENST00000338379	T	0.59364	0.27	5.53	3.74	0.42951	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.112625	0.64402	D	0.000013	T	0.79707	0.4492	H	0.98577	4.27	0.80722	D	1	P	0.51933	0.949	D	0.70935	0.971	D	0.84634	0.0691	10	0.87932	D	0	-22.7696	10.4849	0.44715	0.0:0.7939:0.1342:0.0719	.	95	P22492	H1T_HUMAN	V	95	ENSP00000341214:G95V	ENSP00000341214:G95V	G	-	2	0	HIST1H1T	26216017	0.995000	0.38212	0.105000	0.21289	0.008000	0.06430	3.937000	0.56575	0.877000	0.35895	-0.140000	0.14226	GGA		0.478	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2		NM_005323		23	55	1	0	1.17739e-12	0.005443	1.27825e-12	23	55		
HIST1H2AG	8969	broad.mit.edu	37	6	27100906	27100906	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:27100906C>T	ENST00000359193.2	+	1	75	c.56C>T	c.(55-57)tCt>tTt	p.S19F	HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	19						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						AAGACTCGCTCTTCTAGGGCC	0.642																																						uc003niw.2		NaN																	0					0						c.(55-57)TCT>TTT		histone cluster 1, H2ag							37.0	43.0	41.0					6																	27100906		2203	4300	6503	SO:0001583	missense	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27100906C>T	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.56C>T	6.37:g.27100906C>T	ENSP00000352119:p.Ser19Phe					HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	p.S19F	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN			1	90	+			19					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359193.2	37	c.56C>T	CCDS4619.1	.	.	.	.	.	.	.	.	.	.	C	9.689	1.151256	0.21371	.	.	ENSG00000196787	ENST00000359193	T	0.71698	-0.59	4.08	4.08	0.47627	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.38959	N	0.001502	T	0.79058	0.4382	.	.	.	0.40887	D	0.984045	D	0.58620	0.983	D	0.63488	0.915	T	0.82729	-0.0313	9	0.87932	D	0	.	14.6102	0.68510	0.0:1.0:0.0:0.0	.	19	P0C0S8	H2A1_HUMAN	F	19	ENSP00000352119:S19F	ENSP00000352119:S19F	S	+	2	0	HIST1H2AG	27208885	1.000000	0.71417	0.111000	0.21465	0.004000	0.04260	6.942000	0.75928	2.217000	0.71921	0.655000	0.94253	TCT		0.642	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1		NM_021064		24	34	0	0	0	0.00632	0	24	34		
HIST1H2AK	8330	broad.mit.edu	37	6	27805994	27805994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:27805994C>T	ENST00000330180.2	-	1	123	c.124G>A	c.(124-126)Gag>Aag	p.E42K	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	42						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CCGACCCGCTCAGCGTAGTTG	0.657																																						uc003njs.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(124-126)GAG>AAG		histone cluster 1, H2ak							39.0	42.0	41.0					6																	27805994		2203	4300	6503	SO:0001583	missense	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27805994C>T	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.124G>A	6.37:g.27805994C>T	ENSP00000330307:p.Glu42Lys					HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank	p.E42K	NM_003510	NP_003501	P0C0S8	H2A1_HUMAN			1	124	-			42					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000330180.2	37	c.124G>A	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	9.915	1.210515	0.22289	.	.	ENSG00000184348	ENST00000330180	T	0.67865	-0.29	4.42	3.54	0.40534	.	0.000000	0.31381	U	0.007755	T	0.49762	0.1576	.	.	.	0.22693	N	0.998841	.	.	.	.	.	.	T	0.41945	-0.9480	7	0.54805	T	0.06	.	7.5482	0.27778	0.0:0.737:0.1708:0.0922	.	.	.	.	K	42	ENSP00000330307:E42K	ENSP00000330307:E42K	E	-	1	0	HIST1H2AK	27913973	0.693000	0.27728	0.921000	0.36526	0.242000	0.25591	1.349000	0.33998	2.369000	0.80426	0.655000	0.94253	GAG		0.657	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1		NM_003510		12	38	0	0	0	0.00245	0	12	38		
DDR1	780	broad.mit.edu	37	6	30865172	30865172	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:30865172G>C	ENST00000324771.8	+	17	2562	c.2014G>C	c.(2014-2016)Gag>Cag	p.E672Q	DDR1_ENST00000454612.2_Missense_Mutation_p.E635Q|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Missense_Mutation_p.E678Q|DDR1_ENST00000508312.1_Missense_Mutation_p.E653Q|DDR1_ENST00000376568.3_Missense_Mutation_p.E672Q|DDR1_ENST00000452441.1_Missense_Mutation_p.E672Q|DDR1_ENST00000418800.2_Missense_Mutation_p.E635Q|DDR1_ENST00000513240.1_Missense_Mutation_p.E678Q|DDR1_ENST00000376567.2_Missense_Mutation_p.E635Q|DDR1_ENST00000376569.3_Missense_Mutation_p.E635Q|DDR1_ENST00000376570.4_Missense_Mutation_p.E635Q|DDR1_ENST00000361741.4_Missense_Mutation_p.E339Q			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	672	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TTTCCTGAAAGAGGTGAAGAT	0.587																																						uc003nrr.2		NaN																	0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(2014-2016)GAG>CAG		discoidin domain receptor family, member 1	Imatinib(DB00619)						74.0	70.0	71.0					6																	30865172		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30865172G>C	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2014G>C	6.37:g.30865172G>C	ENSP00000318217:p.Glu672Gln					DDR1_uc010jse.2_Missense_Mutation_p.E635Q|DDR1_uc003nrq.2_Missense_Mutation_p.E635Q|DDR1_uc003nrs.2_Missense_Mutation_p.E672Q|DDR1_uc003nrt.2_Missense_Mutation_p.E635Q|DDR1_uc011dms.1_Missense_Mutation_p.E653Q|DDR1_uc003nru.2_Missense_Mutation_p.E635Q|DDR1_uc003nrv.2_Missense_Mutation_p.E678Q|DDR1_uc003nrw.1_Missense_Mutation_p.E407Q|DDR1_uc003nrz.1_5'UTR	p.E672Q	NM_013993	NP_054699	Q08345	DDR1_HUMAN			16	2273	+			672			Cytoplasmic (Potential).|Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.2014G>C	CCDS34385.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	29.0|29.0|29.0	4.972934|4.972934|4.972934	0.92919|0.92919|0.92919	.|.|.	.|.|.	ENSG00000204580|ENSG00000204580|ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741|ENST00000484556|ENST00000514434	D;D;D;D;D;D;D;D;D;D;D;D;D|D|.	0.96587|0.82984|.	-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06|-1.67|.	5.39|5.39|5.39	5.39|5.39|5.39	0.77823|0.77823|0.77823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.80959|0.80959|0.80959	0.4724|0.4724|0.4724	M|M|M	0.89030|0.89030|0.89030	3|3|3	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	0.999;0.999;1.0;1.0|.|.	D;D;D;D|.|.	0.91635|.|.	0.996;0.998;0.999;0.998|.|.	D|D|D	0.83966|0.83966|0.83966	0.0324|0.0324|0.0324	10|7|5	0.87932|0.22706|.	D|T|.	0|0.39|.	.|.|.	16.6419|16.6419|16.6419	0.85128|0.85128|0.85128	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	653;404;678;672|.|.	B7Z2K0;A2ABM8;Q08345-5;Q08345|.|.	.;.;.;DDR1_HUMAN|.|.	Q|N|T	672;635;635;635;678;635;672;672;653;635;678;404;339|28|169	ENSP00000318217:E672Q;ENSP00000407699:E635Q;ENSP00000406091:E635Q;ENSP00000365753:E635Q;ENSP00000365759:E678Q;ENSP00000365754:E635Q;ENSP00000365752:E672Q;ENSP00000405039:E672Q;ENSP00000422442:E653Q;ENSP00000365751:E635Q;ENSP00000427552:E678Q;ENSP00000398682:E404Q;ENSP00000354844:E339Q|ENSP00000424003:K28N|.	ENSP00000318217:E672Q|ENSP00000424003:K28N|.	E|K|R	+|+|+	1|3|2	0|2|0	DDR1|DDR1|DDR1	30973151|30973151|30973151	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.979000|0.979000|0.979000	0.70002|0.70002|0.70002	9.697000|9.697000|9.697000	0.98697|0.98697|0.98697	2.525000|2.525000|2.525000	0.85131|0.85131|0.85131	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GAG|AAG|AGA		0.587	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3		NM_013994		16	58	0	0	0	0.010504	0	16	58		
MICA	100507436	broad.mit.edu	37	6	31382788	31382788	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:31382788G>A	ENST00000449934.2	+	6	1082		c.e6-1		HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CTTTTCTCCAGAGCTCGTGAG	0.522																																						uc003ntk.1		NaN																	0					0						c.e7-1		RecName: Full=MHC class I polypeptide-related sequence A;          Short=MIC-A; Flags: Precursor;							131.0	120.0	123.0					6																	31382788		692	1591	2283	SO:0001630	splice_region_variant	4276							g.chr6:31382788G>A	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.997-1G>A	6.37:g.31382788G>A														7	1064	+		Ovarian(999;0.0253)							Splice_Site	SNP	ENST00000449934.2	37	c.1025_splice	CCDS56412.1																																																																																				0.522	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7		NM_001177519	Intron	9	73	0	0	0	0.010729	0	9	73		
CSNK2B	1460	broad.mit.edu	37	6	31635728	31635728	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:31635728G>T	ENST00000375882.2	+	3	312	c.156G>T	c.(154-156)atG>atT	p.M52I	GPANK1_ENST00000375900.4_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.M52I|GPANK1_ENST00000375906.1_5'Flank|CSNK2B_ENST00000375866.2_Missense_Mutation_p.M52I|CSNK2B_ENST00000375885.4_Missense_Mutation_p.M71I|GPANK1_ENST00000375893.2_5'Flank|GPANK1_ENST00000375895.2_5'Flank|GPANK1_ENST00000375896.4_5'Flank|CSNK2B_ENST00000375865.2_Missense_Mutation_p.M52I|LY6G5B_ENST00000375864.4_5'Flank|LY6G5B_ENST00000409525.1_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	52					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CTCTAGACATGATCTTGGACC	0.458																																						uc003nvr.1		NaN																	0					0						c.(154-156)ATG>ATT		casein kinase 2, beta polypeptide							131.0	120.0	124.0					6																	31635728		2203	4300	6503	SO:0001583	missense	1460				adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	g.chr6:31635728G>T	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.156G>T	6.37:g.31635728G>T	ENSP00000365042:p.Met52Ile					BAT4_uc003nvn.2_5'Flank|BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_Missense_Mutation_p.M52I|CSNK2B_uc003nvs.1_Missense_Mutation_p.M52I|LY6G5B_uc003nvt.1_5'Flank	p.M52I	NM_001320	NP_001311	P67870	CSK2B_HUMAN			3	496	+			52					B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.156G>T	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395142	0.62066	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.22	5.22	0.72569	Casein kinase II, regulatory subunit, alpha-helical (1);	0.038656	0.85682	D	0.000000	T	0.42017	0.1184	L	0.38838	1.175	0.54753	D	0.999987	B;B;B	0.15473	0.002;0.013;0.002	B;B;B	0.21917	0.034;0.037;0.034	T	0.37641	-0.9697	8	0.44086	T	0.13	-17.721	16.3354	0.83059	0.0:0.0:1.0:0.0	.	52;52;52	B0UXA9;Q5SRQ3;P67870	.;.;CSK2B_HUMAN	I	71;52;52;52;52	.	ENSP00000365025:M52I	M	+	3	0	CSNK2B	31743707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.806000	0.91930	2.725000	0.93324	0.655000	0.94253	ATG		0.458	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8		NM_001320		8	55	1	0	0.00185496	0.001855	0.0019073	8	55		
ABHD16A	7920	broad.mit.edu	37	6	31657862	31657862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:31657862C>T	ENST00000395952.3	-	11	1112	c.950G>A	c.(949-951)gGa>gAa	p.G317E	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.G284E|ABHD16A_ENST00000375842.4_Missense_Mutation_p.G98E	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	317						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CACCGTGCTTCCAGCAAAGCC	0.542																																						uc003nvy.1		NaN																	0					0						c.(949-951)GGA>GAA		HLA-B associated transcript 5							68.0	56.0	60.0					6																	31657862		1511	2709	4220	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31657862C>T	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.950G>A	6.37:g.31657862C>T	ENSP00000379282:p.Gly317Glu					BAT5_uc003nvx.1_Missense_Mutation_p.G98E|BAT5_uc011dny.1_Missense_Mutation_p.G284E|BAT5_uc003nvz.1_Missense_Mutation_p.G98E|BAT5_uc011dnz.1_Missense_Mutation_p.G98E|BAT5_uc010jtc.1_RNA	p.G317E	NM_021160	NP_066983	O95870	ABHGA_HUMAN			11	980	-			317					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.950G>A	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686421	0.88639	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	T;T;T	0.20200	2.09;2.09;2.09	5.4	5.4	0.78164	.	0.108527	0.64402	D	0.000008	T	0.27900	0.0687	L	0.43598	1.365	0.80722	D	1	D;P	0.89917	1.0;0.81	D;P	0.74348	0.983;0.524	T	0.00883	-1.1528	10	0.29301	T	0.29	-9.9061	16.6668	0.85255	0.0:1.0:0.0:0.0	.	284;317	B7Z4R6;O95870	.;ABHGA_HUMAN	E	317;98;284	ENSP00000379282:G317E;ENSP00000365002:G98E;ENSP00000410347:G284E	ENSP00000365002:G98E	G	-	2	0	ABHD16A	31765841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.063000	0.64332	2.536000	0.85505	0.655000	0.94253	GGA		0.542	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4				8	59	0	0	0	0.013537	0	8	59		
PTK7	5754	broad.mit.edu	37	6	43096807	43096807	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:43096807C>G	ENST00000230419.4	+	2	393	c.172C>G	c.(172-174)Ccg>Gcg	p.P58A	PTK7_ENST00000349241.2_Missense_Mutation_p.P58A|PTK7_ENST00000352931.2_Missense_Mutation_p.P58A|PTK7_ENST00000471863.1_Missense_Mutation_p.P58A|PTK7_ENST00000345201.2_Missense_Mutation_p.P58A|PTK7_ENST00000476760.1_Missense_Mutation_p.P58A|PTK7_ENST00000481273.1_Missense_Mutation_p.P66A	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	58	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGTTGAGGCTCCGGGCCCGGT	0.642																																						uc003oub.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(172-174)CCG>GCG		PTK7 protein tyrosine kinase 7 isoform a							37.0	39.0	39.0					6																	43096807		2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43096807C>G	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.172C>G	6.37:g.43096807C>G	ENSP00000230419:p.Pro58Ala					PTK7_uc003ouc.1_Missense_Mutation_p.P58A|PTK7_uc003oud.1_Missense_Mutation_p.P58A|PTK7_uc003oue.1_Missense_Mutation_p.P58A|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.P66A|PTK7_uc003oua.2_Missense_Mutation_p.P58A	p.P58A	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		2	370	+			58			Ig-like C2-type 1.|Extracellular (Potential).		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.172C>G	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	0.382	-0.927900	0.02377	.	.	ENSG00000112655	ENST00000230419;ENST00000476760;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.84	1.01	0.19927	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106321	0.64402	D	0.000003	T	0.40196	0.1107	L	0.60067	1.865	0.53005	D	0.999962	B;B;B;B;B;B	0.26318	0.013;0.051;0.101;0.026;0.123;0.146	B;B;B;B;B;B	0.39935	0.043;0.076;0.104;0.059;0.21;0.314	T	0.22521	-1.0214	10	0.19147	T	0.46	.	6.1478	0.20294	0.1347:0.6607:0.0:0.2046	.	66;58;58;58;58;58	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	A	58;58;58;58;58;58;66;66	ENSP00000230419:P58A;ENSP00000417607:P58A;ENSP00000419037:P58A;ENSP00000325462:P58A;ENSP00000326029:P58A;ENSP00000325992:P58A;ENSP00000418754:P66A	ENSP00000230418:P58A	P	+	1	0	PTK7	43204785	0.943000	0.32029	0.003000	0.11579	0.026000	0.11368	2.340000	0.43974	-0.112000	0.11979	0.462000	0.41574	CCG		0.642	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2				11	16	0	0	0	0.004007	0	11	16		
XPO5	57510	broad.mit.edu	37	6	43516011	43516011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:43516011G>A	ENST00000265351.7	-	18	2257	c.2047C>T	c.(2047-2049)Caa>Taa	p.Q683*		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	683					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TGCATGTCTTGAGAAAGCCAG	0.502																																						uc003ovp.2		NaN																	0				skin(2)|breast(1)|kidney(1)	4						c.(2047-2049)CAA>TAA		exportin 5							140.0	139.0	139.0					6																	43516011		1948	4144	6092	SO:0001587	stop_gained	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43516011G>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2047C>T	6.37:g.43516011G>A	ENSP00000265351:p.Gln683*						p.Q683*	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		18	2258	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		683					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Nonsense_Mutation	SNP	ENST00000265351.7	37	c.2047C>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	G	40	8.381728	0.98786	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	.	.	.	6.03	4.22	0.49857	.	0.332965	0.34178	N	0.004196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-14.3074	17.2947	0.87167	0.0:0.6358:0.3642:0.0	.	.	.	.	X	683;388;223;311	.	ENSP00000265351:Q683X	Q	-	1	0	XPO5	43623989	0.998000	0.40836	0.999000	0.59377	0.935000	0.57460	3.422000	0.52749	0.828000	0.34709	-0.165000	0.13383	CAA		0.502	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2		NM_020750		22	94	0	0	0	0.005443	0	22	94		
OPN5	221391	broad.mit.edu	37	6	47775996	47775996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:47775996C>T	ENST00000371211.2	+	5	891	c.863C>T	c.(862-864)tCt>tTt	p.S288F	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000489301.2_Missense_Mutation_p.S288F|OPN5_ENST00000393699.2_Missense_Mutation_p.S288F	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	288					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.S288Y(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ATACAGCTCTCTGTGGTGCCA	0.453																																					Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(862-864)TCT>TTT		opsin 5 isoform 1							284.0	253.0	264.0					6																	47775996		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47775996C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.863C>T	6.37:g.47775996C>T	ENSP00000360255:p.Ser288Phe					OPN5_uc003ozd.2_Missense_Mutation_p.S123F	p.S288F	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			5	868	+			288			Extracellular (Potential).		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.863C>T	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362293	0.82353	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.70986	-0.53;-0.53;-0.53	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	L	0.35854	1.095	0.80722	D	1	P	0.46277	0.875	P	0.47891	0.56	T	0.69822	-0.5041	10	0.87932	D	0	.	19.333	0.94299	0.0:1.0:0.0:0.0	.	288	Q6U736	OPN5_HUMAN	F	288	ENSP00000426991:S288F;ENSP00000360255:S288F;ENSP00000377302:S288F	ENSP00000360255:S288F	S	+	2	0	OPN5	47883955	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.644000	0.89710	0.655000	0.94253	TCT		0.453	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1		NM_181744		25	130	0	0	0	0.009535	0	25	130		
PHF3	23469	broad.mit.edu	37	6	64390047	64390047	+	Missense_Mutation	SNP	C	C	T	rs368685403		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:64390047C>T	ENST00000262043.3	+	3	731	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	PHF3_ENST00000509330.1_Missense_Mutation_p.R131C|PHF3_ENST00000393387.1_Missense_Mutation_p.R131C			Q92576	PHF3_HUMAN	PHD finger protein 3	131					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAATCACCTCGTTTAATGGC	0.383																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(391-393)CGT>TGT		PHD finger protein 3		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	130.0	131.0		391	5.1	1.0	6		131	0,8600		0,0,4300	no	missense	PHF3	NM_015153.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	131/2040	64390047	1,13005	2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64390047C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.391C>T	6.37:g.64390047C>T	ENSP00000262043:p.Arg131Cys					PHF3_uc010kaf.1_Missense_Mutation_p.R131C|PHF3_uc003pem.2_Missense_Mutation_p.R84C|PHF3_uc010kag.1_Missense_Mutation_p.R43C|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.R43C|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.R131C	p.R131C	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		2	417	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		131					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.391C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029246	0.54790	2.27E-4	0.0	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.67523	0.33;1.12;0.54;-0.27;1.12	5.98	5.12	0.69794	.	0.000000	0.40302	N	0.001122	T	0.48732	0.1516	M	0.64997	1.995	0.58432	D	0.999999	B;P	0.43392	0.263;0.805	B;B	0.31946	0.031;0.138	T	0.61758	-0.6997	10	0.87932	D	0	-14.9389	15.4178	0.74983	0.0:0.9333:0.0:0.0667	.	131;131	Q92576;D6R9X2	PHF3_HUMAN;.	C	43;131;84;131;131;61	ENSP00000425227:R43C;ENSP00000262043:R131C;ENSP00000424078:R84C;ENSP00000422841:R131C;ENSP00000377048:R131C	ENSP00000262043:R131C	R	+	1	0	PHF3	64448006	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.629000	0.67798	1.537000	0.49254	0.591000	0.81541	CGT		0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2				18	93	0	0	0	0.012319	0	18	93		
IBTK	25998	broad.mit.edu	37	6	82927697	82927697	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:82927697C>G	ENST00000306270.7	-	10	1955	c.1406G>C	c.(1405-1407)aGa>aCa	p.R469T	IBTK_ENST00000510291.1_Missense_Mutation_p.R469T|IBTK_ENST00000503631.1_Missense_Mutation_p.R469T	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	469					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AGAACTCTTTCTTTTCTCTTC	0.318																																						uc003pjl.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1405-1407)AGA>ACA		inhibitor of Bruton's tyrosine kinase							100.0	102.0	101.0					6																	82927697		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82927697C>G	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1406G>C	6.37:g.82927697C>G	ENSP00000305721:p.Arg469Thr					IBTK_uc011dyv.1_Missense_Mutation_p.R469T|IBTK_uc011dyw.1_Missense_Mutation_p.R469T|IBTK_uc010kbi.1_Missense_Mutation_p.R163T|IBTK_uc003pjm.2_Missense_Mutation_p.R469T	p.R469T	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	10	1933	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	469					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.1406G>C	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619079	0.28801	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.28069	1.89;1.63;1.89	5.23	1.98	0.26296	.	0.201379	0.51477	D	0.000098	T	0.08537	0.0212	L	0.44542	1.39	0.40388	D	0.979512	B;B;P;B	0.40834	0.181;0.381;0.73;0.381	B;B;B;B	0.35688	0.031;0.094;0.208;0.094	T	0.10870	-1.0611	10	0.15499	T	0.54	-17.9602	7.4225	0.27079	0.0:0.5217:0.0:0.4783	.	469;469;469;469	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	T	469	ENSP00000305721:R469T;ENSP00000422762:R469T;ENSP00000426405:R469T	ENSP00000305721:R469T	R	-	2	0	IBTK	82984416	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	2.388000	0.44398	0.715000	0.32103	-0.258000	0.10820	AGA		0.318	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2		NM_015525		9	29	0	0	0	0.008291	0	9	29		
SLC35F1	222553	broad.mit.edu	37	6	118588187	118588187	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:118588187G>A	ENST00000360388.4	+	4	708	c.507G>A	c.(505-507)gtG>gtA	p.V169V		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	169					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCCCAGTCGTGATTTTGCTCT	0.502																																						uc003pxx.3		NaN																	0				breast(1)	1						c.(505-507)GTG>GTA		solute carrier family 35, member F1							393.0	358.0	370.0					6																	118588187		2203	4300	6503	SO:0001819	synonymous_variant	222553				transport	integral to membrane		g.chr6:118588187G>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.507G>A	6.37:g.118588187G>A						SLC35F1_uc003pxy.1_5'UTR	p.V169V	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	4	708	+			169			Helical; (Potential).		E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	c.507G>A	CCDS34524.1																																																																																				0.502	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2		XM_167044		56	332	0	0	0	0.01441	0	56	332		
MYB	4602	broad.mit.edu	37	6	135511379	135511379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:135511379G>C	ENST00000367814.4	+	5	607	c.421G>C	c.(421-423)Gaa>Caa	p.E141Q	MYB_ENST00000528774.1_Missense_Mutation_p.E141Q|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000533624.1_Missense_Mutation_p.E141Q|MYB_ENST00000316528.8_Missense_Mutation_p.E141Q|MYB_ENST00000534044.1_Missense_Mutation_p.E141Q|MYB_ENST00000527615.1_Missense_Mutation_p.E141Q|MYB_ENST00000525369.1_Missense_Mutation_p.E141Q|MYB_ENST00000442647.2_Missense_Mutation_p.E141Q|MYB_ENST00000420123.2_Missense_Mutation_p.E117Q|MYB_ENST00000341911.5_Missense_Mutation_p.E141Q|MYB_ENST00000534121.1_Missense_Mutation_p.E141Q	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	141	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with HIPK2 and NLK. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|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)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTTGAATCCAGAAGTTAAGAA	0.453			T	NFIB	adenoid cystic carcinoma																																	uc003qfc.2		NaN		Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				lung(1)	1						c.(421-423)GAA>CAA		v-myb myeloblastosis viral oncogene homolog							89.0	88.0	89.0					6																	135511379		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135511379G>C		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.421G>C	6.37:g.135511379G>C	ENSP00000356788:p.Glu141Gln					MYB_uc003qfh.2_Missense_Mutation_p.E141Q|MYB_uc003qfi.2_Missense_Mutation_p.E141Q|MYB_uc010kgi.2_Missense_Mutation_p.E141Q|MYB_uc003qfq.2_Missense_Mutation_p.E141Q|MYB_uc010kgj.2_Missense_Mutation_p.E141Q|MYB_uc003qfo.2_Missense_Mutation_p.E141Q|MYB_uc003qfu.2_Missense_Mutation_p.E141Q|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Intron|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Intron|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.E141Q|MYB_uc003qgd.1_5'UTR	p.E141Q	NM_005375	NP_005366	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	5	620	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	141			HTH myb-type 2.|Interaction with HIPK2 and NLK (By similarity).		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.421G>C	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798493	0.90538	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.32272	2.66;2.2;2.2;2.21;1.46;1.92;2.66;2.65;1.87;2.23	5.81	5.81	0.92471	Transcription regulator HTH, Myb-type, DNA-binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	L	0.33753	1.03	0.80722	D	1	P;P;P;B;P;P;B;D;D	0.69078	0.598;0.953;0.49;0.365;0.694;0.824;0.293;0.996;0.997	B;P;B;B;B;P;B;D;D	0.64042	0.309;0.674;0.179;0.36;0.44;0.598;0.179;0.921;0.919	T	0.20240	-1.0281	10	0.87932	D	0	-16.548	20.0726	0.97729	0.0:0.0:1.0:0.0	.	141;141;141;141;141;141;141;141;141	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	Q	141;141;141;141;141;141;117;141;141;141;141;141;95	ENSP00000339992:E141Q;ENSP00000410825:E141Q;ENSP00000326328:E141Q;ENSP00000356788:E141Q;ENSP00000433227:E141Q;ENSP00000435938:E141Q;ENSP00000434723:E141Q;ENSP00000432851:E141Q;ENSP00000435055:E141Q;ENSP00000436605:E141Q	ENSP00000237302:E141Q	E	+	1	0	MYB	135553072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.738000	0.93877	0.655000	0.94253	GAA		0.453	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4				9	53	0	0	0	0.006214	0	9	53		
MYB	4602	broad.mit.edu	37	6	135539063	135539063	+	Missense_Mutation	SNP	C	C	T	rs148508251		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:135539063C>T	ENST00000367814.4	+	15	2054	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	MYB_ENST00000528774.1_Missense_Mutation_p.S741F|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000533624.1_Missense_Mutation_p.S588F|MYB_ENST00000316528.8_Missense_Mutation_p.S709F|MYB_ENST00000534044.1_Missense_Mutation_p.S586F|MYB_ENST00000525369.1_Missense_Mutation_p.S538F|MYB_ENST00000442647.2_Missense_Mutation_p.S620F|MYB_ENST00000341911.5_Missense_Mutation_p.S744F|MYB_ENST00000534121.1_Missense_Mutation_p.S728F	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	623					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|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)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		ATGACATCTTCCAGTCAAGCT	0.478			T	NFIB	adenoid cystic carcinoma																																	uc003qfc.2		NaN		Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				lung(1)	1						c.(1867-1869)TCC>TTC		v-myb myeloblastosis viral oncogene homolog							189.0	160.0	169.0					6																	135539063		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135539063C>T		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1868C>T	6.37:g.135539063C>T	ENSP00000356788:p.Ser623Phe					MYB_uc003qfh.2_Missense_Mutation_p.S744F|MYB_uc003qfi.2_Missense_Mutation_p.S728F|MYB_uc010kgi.2_Missense_Mutation_p.S586F|MYB_uc003qfq.2_Missense_Mutation_p.S741F|MYB_uc010kgj.2_Missense_Mutation_p.S588F|MYB_uc003qfo.2_Missense_Mutation_p.S538F|MYB_uc003qfu.2_Missense_Mutation_p.S620F|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Missense_Mutation_p.S249F|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.S435F|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA	p.S623F	NM_005375	NP_005366	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	15	2067	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	623					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.1868C>T	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433739	0.62955	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000367814;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T	0.29917	2.67;2.2;1.92;2.2;1.87;2.67;2.67;1.55;2.18	5.74	5.74	0.90152	.	0.233293	0.46442	D	0.000297	T	0.46034	0.1372	L	0.54323	1.7	0.33411	D	0.578635	P;P;P;P;D;P;D;P	0.65815	0.918;0.918;0.925;0.902;0.995;0.835;0.987;0.802	P;P;P;P;D;P;D;B	0.75484	0.723;0.553;0.568;0.553;0.986;0.451;0.917;0.346	T	0.45614	-0.9249	10	0.87932	D	0	-10.2744	19.9197	0.97082	0.0:1.0:0.0:0.0	.	588;586;620;741;538;728;744;623	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242	.;.;.;.;.;.;.;MYB_HUMAN	F	744;620;709;623;538;741;728;586;588	ENSP00000339992:S744F;ENSP00000410825:S620F;ENSP00000326328:S709F;ENSP00000356788:S623F;ENSP00000435938:S538F;ENSP00000434723:S741F;ENSP00000432851:S728F;ENSP00000435055:S586F;ENSP00000436605:S588F	ENSP00000326328:S709F	S	+	2	0	MYB	135580756	0.999000	0.42202	0.725000	0.30721	0.764000	0.43329	6.041000	0.70988	2.702000	0.92279	0.655000	0.94253	TCC		0.478	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4				10	69	0	0	0	0.008291	0	10	69		
SYNE1	23345	broad.mit.edu	37	6	152631862	152631862	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:152631862C>G	ENST00000367255.5	-	88	17458	c.16857G>C	c.(16855-16857)atG>atC	p.M5619I	SYNE1_ENST00000356820.4_Missense_Mutation_p.M143I|SYNE1_ENST00000448038.1_Missense_Mutation_p.M5548I|SYNE1_ENST00000341594.5_Missense_Mutation_p.M5231I|SYNE1_ENST00000265368.4_Missense_Mutation_p.M5619I|SYNE1_ENST00000423061.1_Missense_Mutation_p.M5548I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5619					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAATTTTGATCATCTGTCGCA	0.383										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(16855-16857)ATG>ATC		spectrin repeat containing, nuclear envelope 1							95.0	84.0	88.0					6																	152631862		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152631862C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16857G>C	6.37:g.152631862C>G	ENSP00000356224:p.Met5619Ile	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.M143I|SYNE1_uc003qos.3_Missense_Mutation_p.M143I|SYNE1_uc003qot.3_Missense_Mutation_p.M5548I|SYNE1_uc003qou.3_Missense_Mutation_p.M5619I	p.M5619I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	88	17459	-		Ovarian(120;0.0955)	5619			Spectrin 17.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.16857G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711136	0.30322	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.47177	1.37;1.37;1.37;1.37;0.85;1.37	5.99	0.111	0.14619	.	1.059870	0.07274	N	0.869673	T	0.07773	0.0195	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31503	-0.9941	10	0.30854	T	0.27	.	9.3332	0.38034	0.3639:0.3724:0.2637:0.0	.	5619;5619;5548	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	5619;5548;5619;5548;5231;143	ENSP00000356224:M5619I;ENSP00000396024:M5548I;ENSP00000265368:M5619I;ENSP00000390975:M5548I;ENSP00000341887:M5231I;ENSP00000349276:M143I	ENSP00000265368:M5619I	M	-	3	0	SYNE1	152673555	0.604000	0.26932	0.407000	0.26434	0.979000	0.70002	1.058000	0.30504	0.351000	0.24027	0.655000	0.94253	ATG		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		15	23	0	0	0	0.007413	0	15	23		
SYNE1	23345	broad.mit.edu	37	6	152740829	152740829	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:152740829C>G	ENST00000367255.5	-	40	5897	c.5296G>C	c.(5296-5298)Gaa>Caa	p.E1766Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E1773Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1803Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1766Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1773Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1766					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTGGTGTTCAGCAACCACA	0.348										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(5296-5298)GAA>CAA		spectrin repeat containing, nuclear envelope 1							78.0	77.0	77.0					6																	152740829		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152740829C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5296G>C	6.37:g.152740829C>G	ENSP00000356224:p.Glu1766Gln	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E1773Q|SYNE1_uc003qou.3_Missense_Mutation_p.E1766Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E1749Q	p.E1766Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	40	5898	-		Ovarian(120;0.0955)	1766			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5296G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272347	0.23221	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.21	5.21	0.72293	.	0.091701	0.47093	D	0.000256	T	0.22044	0.0531	L	0.38175	1.15	0.80722	D	1	P;B;B;D	0.58268	0.647;0.168;0.168;0.982	B;B;B;P	0.54174	0.089;0.018;0.018;0.744	T	0.01725	-1.1287	10	0.12766	T	0.61	.	14.436	0.67282	0.0:0.9265:0.0:0.0735	.	1749;1766;1766;1773	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	1766;1773;1766;1773;1803	ENSP00000356224:E1766Q;ENSP00000396024:E1773Q;ENSP00000265368:E1766Q;ENSP00000390975:E1773Q;ENSP00000341887:E1803Q	ENSP00000265368:E1766Q	E	-	1	0	SYNE1	152782522	0.997000	0.39634	0.766000	0.31476	0.708000	0.40852	2.139000	0.42149	2.594000	0.87642	0.650000	0.86243	GAA		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		11	42	0	0	0	0.00499	0	11	42		
MAP3K4	4216	broad.mit.edu	37	6	161527697	161527697	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:161527697G>C	ENST00000392142.4	+	20	4156	c.4008G>C	c.(4006-4008)ttG>ttC	p.L1336F	MAP3K4_ENST00000366920.2_Missense_Mutation_p.L1332F|MAP3K4_ENST00000366919.2_Missense_Mutation_p.L1286F|MAP3K4_ENST00000348824.7_Missense_Mutation_p.L1282F	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1336					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACGTTGGCTTGAGGAAGGTGA	0.378																																						uc003qtn.2		NaN																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(4006-4008)TTG>TTC		mitogen-activated protein kinase kinase kinase 4							154.0	142.0	146.0					6																	161527697		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161527697G>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4008G>C	6.37:g.161527697G>C	ENSP00000375986:p.Leu1336Phe					MAP3K4_uc010kkc.1_Missense_Mutation_p.L1332F|MAP3K4_uc003qto.2_Missense_Mutation_p.L1286F|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.L789F|MAP3K4_uc003qtp.2_Missense_Mutation_p.L272F|MAP3K4_uc003qtq.2_Missense_Mutation_p.L25F	p.L1336F	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	20	4150	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1336					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.4008G>C	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666067	0.47677	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.74737	-0.76;-0.87;-0.86;-0.74	4.61	2.49	0.30216	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000036	T	0.51941	0.1704	N	0.24115	0.695	0.49582	D	0.999809	P;B;P;D	0.56746	0.721;0.404;0.949;0.977	P;B;P;P	0.61533	0.673;0.146;0.81;0.89	T	0.56547	-0.7961	10	0.07990	T	0.79	-14.4163	5.1815	0.15161	0.228:0.0:0.6083:0.1637	.	1332;272;1286;1336	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	F	1286;1336;1286;1332;1282	ENSP00000355886:L1286F;ENSP00000375986:L1336F;ENSP00000355887:L1332F;ENSP00000297332:L1282F	ENSP00000297332:L1282F	L	+	3	2	MAP3K4	161447687	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.040000	0.30278	0.926000	0.37118	0.585000	0.79938	TTG		0.378	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3				38	50	0	0	0	0.01441	0	38	50		
BRAT1	221927	broad.mit.edu	37	7	2579517	2579517	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:2579517C>G	ENST00000340611.4	-	11	1657	c.1401G>C	c.(1399-1401)ctG>ctC	p.L467L	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	467					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGGCCTTCTTCAGAACCTGGA	0.652																																						uc003smi.2		NaN																	0					0						c.(1399-1401)CTG>CTC		hypothetical protein LOC221927 precursor							20.0	22.0	21.0					7																	2579517		2193	4300	6493	SO:0001819	synonymous_variant	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2579517C>G	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1401G>C	7.37:g.2579517C>G						C7orf27_uc003smh.3_5'UTR	p.L467L	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)	11	1443	-		Ovarian(82;0.0779)	467					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	c.1401G>C	CCDS5334.1																																																																																				0.652	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2		NM_152743		4	5	0	0	0	0.001168	0	4	5		
EIF2AK1	27102	broad.mit.edu	37	7	6098634	6098634	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:6098634G>C	ENST00000199389.6	-	1	227	c.81C>G	c.(79-81)atC>atG	p.I27M	EIF2AK1_ENST00000536084.1_De_novo_Start_OutOfFrame|RNU6-218P_ENST00000517120.1_RNA	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	27				PPAIDFPAE -> RRHRLSRR (in Ref. 1; AAF70289). {ECO:0000305}.	negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CGGGAAAGTCGATGGCCGGCG	0.741																																						uc003spp.2		NaN																	0				upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(79-81)ATC>ATG		eukaryotic translation initiation factor 2-alpha							6.0	11.0	10.0					7																	6098634		2100	4156	6256	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6098634G>C	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.81C>G	7.37:g.6098634G>C	ENSP00000199389:p.Ile27Met					EIF2AK1_uc003spq.2_Missense_Mutation_p.I27M|EIF2AK1_uc011jwm.1_Translation_Start_Site	p.I27M	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	1	227	-		Ovarian(82;0.0423)	27	PPAIDFPAE -> RRHRLSRR (in Ref. 1; AAF70289).				A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.81C>G	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	G	9.623	1.134466	0.21123	.	.	ENSG00000086232	ENST00000199389;ENST00000446699	T;T	0.14640	2.49;2.49	5.75	1.74	0.24563	.	0.227435	0.44285	D	0.000479	T	0.25644	0.0624	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.936	T	0.01545	-1.1328	10	0.72032	D	0.01	-23.1258	5.1185	0.14849	0.2339:0.0:0.6216:0.1445	.	27;27	Q9BQI3-2;Q9BQI3	.;E2AK1_HUMAN	M	27	ENSP00000199389:I27M;ENSP00000397590:I27M	ENSP00000199389:I27M	I	-	3	3	EIF2AK1	6065160	0.961000	0.32948	1.000000	0.80357	0.151000	0.21798	-0.347000	0.07750	0.457000	0.26962	-0.137000	0.14449	ATC		0.741	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2		NM_014413		3	6	0	0	0	0.009096	0	3	6		
MPP6	51678	broad.mit.edu	37	7	24705264	24705264	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:24705264G>C	ENST00000222644.5	+	7	1091	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	MPP6_ENST00000396475.2_Missense_Mutation_p.E281Q|MPP6_ENST00000409761.1_Missense_Mutation_p.E169Q			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						GTTCCTGGAAGAGAAGAGAAA	0.423																																						uc003swx.2		NaN																	0					0						c.(841-843)GAG>CAG		membrane protein, palmitoylated 6							117.0	113.0	114.0					7																	24705264		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24705264G>C	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.841G>C	7.37:g.24705264G>C	ENSP00000222644:p.Glu281Gln					MPP6_uc003swy.2_Missense_Mutation_p.E281Q|MPP6_uc010kur.2_5'Flank	p.E281Q	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			8	1140	+			281			SH3.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.841G>C	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241630	0.79912	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.16	4.28	0.50868	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.56097	D	0.000040	D	0.92954	0.7758	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92724	0.6194	10	0.46703	T	0.11	.	13.7494	0.62897	0.0747:0.0:0.9253:0.0	.	281	Q9NZW5	MPP6_HUMAN	Q	281;169;281;281	ENSP00000222644:E281Q;ENSP00000386262:E169Q;ENSP00000379737:E281Q;ENSP00000391020:E281Q	ENSP00000222644:E281Q	E	+	1	0	MPP6	24671789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	1.164000	0.42652	0.591000	0.81541	GAG		0.423	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4				12	64	0	0	0	0.003163	0	12	64		
CREB5	9586	broad.mit.edu	37	7	28534602	28534602	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:28534602G>C	ENST00000357727.2	+	3	544	c.154G>C	c.(154-156)Gac>Cac	p.D52H	CREB5_ENST00000396299.2_Missense_Mutation_p.D19H|CREB5_ENST00000396300.2_Missense_Mutation_p.D45H|CREB5_ENST00000409603.1_Missense_Mutation_p.D19H	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	52					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AATAAAAACAGACAATATGTT	0.408																																						uc003szq.2		NaN																	0				skin(2)	2						c.(154-156)GAC>CAC		cAMP responsive element binding protein 5							83.0	89.0	87.0					7																	28534602		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28534602G>C	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.154G>C	7.37:g.28534602G>C	ENSP00000350359:p.Asp52His					CREB5_uc003szo.2_Missense_Mutation_p.D19H|CREB5_uc003szr.2_Missense_Mutation_p.D45H	p.D52H	NM_182898	NP_878901	Q02930	CREB5_HUMAN			3	544	+			52					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.154G>C	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598223	0.66332	.	.	ENSG00000146592	ENST00000396299;ENST00000424599;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.62492	-0.6843	10	0.87932	D	0	-22.6785	19.9596	0.97236	0.0:0.0:1.0:0.0	.	52	Q02930	CREB5_HUMAN	H	19;45;52;45;19	ENSP00000379593:D19H;ENSP00000394088:D45H;ENSP00000350359:D52H;ENSP00000379594:D45H;ENSP00000387197:D19H	ENSP00000350359:D52H	D	+	1	0	CREB5	28501127	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.461000	0.97646	2.726000	0.93360	0.655000	0.94253	GAC		0.408	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4		NM_004904		23	42	0	0	0	0.003954	0	23	42		
PLEKHA8	84725	broad.mit.edu	37	7	30102287	30102287	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:30102287G>C	ENST00000449726.1	+	12	1579		c.e12-1		PLEKHA8_ENST00000258679.7_Splice_Site|PLEKHA8_ENST00000396259.1_Splice_Site|PLEKHA8_ENST00000396257.2_Splice_Site	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8						ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TTTTGTTTTAGAGGTCTCAAA	0.328																																						uc003tam.1		NaN																	0				breast(3)|ovary(1)	4						c.e12-1		pleckstrin homology domain containing, family A							67.0	70.0	69.0					7																	30102287		2203	4299	6502	SO:0001630	splice_region_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30102287G>C	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1230-1G>C	7.37:g.30102287G>C						PLEKHA8_uc003tao.2_Splice_Site_p.R294_splice|PLEKHA8_uc003tap.1_Splice_Site_p.R410_splice|PLEKHA8_uc003tan.2_Splice_Site_p.R410_splice	p.R410_splice	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN			12	1321	+								B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Splice_Site	SNP	ENST00000449726.1	37	c.1230_splice	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784880	0.70222	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1941	0.86887	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHA8	30068812	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.704000	0.84595	2.398000	0.81561	0.655000	0.94253	.		0.328	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032639	Intron	11	39	0	0	0	0.013537	0	11	39		
BBS9	27241	broad.mit.edu	37	7	33185904	33185904	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:33185904C>G	ENST00000242067.6	+	2	561	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V	BBS9_ENST00000355070.2_Missense_Mutation_p.L14V|BBS9_ENST00000482941.1_3'UTR|BBS9_ENST00000350941.3_Missense_Mutation_p.L14V|BBS9_ENST00000425508.2_5'UTR|BBS9_ENST00000354265.4_Missense_Mutation_p.L14V|BBS9_ENST00000396127.2_Missense_Mutation_p.L14V	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	14					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTCTACTATTCTGGGAGATAA	0.333									Bardet-Biedl syndrome																													uc003tdn.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(40-42)CTG>GTG		parathyroid hormone-responsive B1 isoform 2							159.0	155.0	156.0					7																	33185904		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33185904C>G		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.40C>G	7.37:g.33185904C>G	ENSP00000242067:p.Leu14Val					BBS9_uc003tdo.1_Missense_Mutation_p.L14V|BBS9_uc003tdp.1_Missense_Mutation_p.L14V|BBS9_uc003tdq.1_Missense_Mutation_p.L14V|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.L14V	p.L14V	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		2	553	+			14					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.40C>G	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826950	0.32329	.	.	ENSG00000122507	ENST00000432983;ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.25	3.45	0.39498	.	0.000000	0.64402	D	0.000001	T	0.76118	0.3943	L	0.53249	1.67	0.80722	D	1	B;B;B;B;B	0.17667	0.023;0.009;0.009;0.009;0.009	B;B;B;B;B	0.20577	0.018;0.023;0.03;0.023;0.023	T	0.66544	-0.5897	10	0.25106	T	0.35	-8.6302	7.8757	0.29592	0.0:0.7199:0.1335:0.1466	.	14;14;14;14;14	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	V	14	ENSP00000415794:L14V;ENSP00000242067:L14V;ENSP00000313122:L14V;ENSP00000379433:L14V;ENSP00000347182:L14V;ENSP00000346214:L14V	ENSP00000242067:L14V	L	+	1	2	BBS9	33152429	0.777000	0.28628	1.000000	0.80357	0.945000	0.59286	1.523000	0.35932	0.721000	0.32231	0.561000	0.74099	CTG		0.333	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1				36	100	0	0	0	0.009718	0	36	100		
ADCY1	107	broad.mit.edu	37	7	45743204	45743204	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:45743204C>G	ENST00000297323.7	+	16	2599	c.2577C>G	c.(2575-2577)ctC>ctG	p.L859L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	859					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCCAGGACCTCTACTACCAGT	0.582																																						uc003tne.3		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2575-2577)CTC>CTG		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						122.0	104.0	110.0					7																	45743204		2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45743204C>G	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2577C>G	7.37:g.45743204C>G							p.L859L	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			16	2595	+			859			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.2577C>G	CCDS34631.1																																																																																				0.582	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2		NM_021116		24	70	0	0	0	0.003954	0	24	70		
ZNF479	90827	broad.mit.edu	37	7	57188109	57188109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:57188109G>A	ENST00000331162.4	-	5	1283	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTAAGGTTTGAGGACCAGCT	0.453																																						uc010kzo.2		NaN																	0				ovary(3)|skin(1)	4						c.(1012-1014)TCA>TTA		zinc finger protein 479							18.0	19.0	19.0					7																	57188109		2047	4227	6274	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188109G>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1013C>T	7.37:g.57188109G>A	ENSP00000333776:p.Ser338Leu						p.S338L	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1284	-			338			C2H2-type 6.			Missense_Mutation	SNP	ENST00000331162.4	37	c.1013C>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	8.323	0.824838	0.16678	.	.	ENSG00000185177	ENST00000331162	T	0.07444	3.19	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	M	0.72894	2.215	0.09310	N	1	B	0.33494	0.414	B	0.18263	0.021	T	0.17592	-1.0364	9	0.62326	D	0.03	.	7.4806	0.27402	0.0:0.0:1.0:0.0	.	338	Q96JC4	ZN479_HUMAN	L	338	ENSP00000333776:S338L	ENSP00000333776:S338L	S	-	2	0	ZNF479	57192051	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.147000	0.10234	0.453000	0.26858	0.456000	0.33151	TCA		0.453	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1		XM_291202		10	42	0	0	0	0.004007	0	10	42		
HGF	3082	broad.mit.edu	37	7	81346648	81346648	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:81346648C>G	ENST00000222390.5	-	11	1531	c.1305G>C	c.(1303-1305)ctG>ctC	p.L435L	HGF_ENST00000457544.2_Silent_p.L430L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	435	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AATTCTCATTCAGCTTACTTG	0.438																																						uc003uhl.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1303-1305)CTG>CTC		hepatocyte growth factor isoform 1							229.0	173.0	192.0					7																	81346648		2203	4300	6503	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81346648C>G		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1305G>C	7.37:g.81346648C>G						HGF_uc003uhm.2_Silent_p.L430L	p.L435L	NM_000601	NP_000592	P14210	HGF_HUMAN			11	1470	-			435			Kringle 4.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.1305G>C	CCDS5597.1																																																																																				0.438	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2		NM_000601		43	87	0	0	0	0.01441	0	43	87		
PEX1	5189	broad.mit.edu	37	7	92143172	92143172	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:92143172C>G	ENST00000248633.4	-	6	1444	c.1349G>C	c.(1348-1350)aGa>aCa	p.R450T	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Missense_Mutation_p.R450T|PEX1_ENST00000438045.1_Missense_Mutation_p.R128T	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	450					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TAAATTCTCTCTAGGTTGTAA	0.328																																						uc003uly.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1348-1350)AGA>ACA		peroxin1							84.0	89.0	87.0					7																	92143172		2203	4297	6500	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92143172C>G	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1349G>C	7.37:g.92143172C>G	ENSP00000248633:p.Arg450Thr					PEX1_uc011khr.1_Missense_Mutation_p.R242T|PEX1_uc010ley.2_Missense_Mutation_p.R450T|PEX1_uc011khs.1_Missense_Mutation_p.R128T|PEX1_uc011kht.1_RNA	p.R450T	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		6	1445	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	450					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1349G>C	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	9.685	1.150284	0.21371	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.94232	-3.31;-3.33;-3.38	5.84	3.0	0.34707	.	0.566288	0.19820	N	0.105326	D	0.83055	0.5171	N	0.14661	0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.69548	-0.5116	10	0.11485	T	0.65	-6.8115	6.7922	0.23705	0.0:0.4206:0.4059:0.1735	.	128;242;450	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	T	128;450;450;450	ENSP00000410438:R128T;ENSP00000248633:R450T;ENSP00000394413:R450T	ENSP00000248633:R450T	R	-	2	0	PEX1	91981108	0.966000	0.33281	0.998000	0.56505	0.950000	0.60333	0.202000	0.17295	0.350000	0.24002	0.561000	0.74099	AGA		0.328	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3		NM_000466		29	77	0	0	0	0.013726	0	29	77		
ZNF394	84124	broad.mit.edu	37	7	99091818	99091818	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:99091818G>T	ENST00000337673.6	-	3	1223	c.1020C>A	c.(1018-1020)ttC>ttA	p.F340L	ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_5'Flank	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	340					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGGAATGATGGAAACTGTCTC	0.483																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2		NaN																	0					0						c.(1018-1020)TTC>TTA		zinc finger protein 394							122.0	112.0	115.0					7																	99091818		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99091818G>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1020C>A	7.37:g.99091818G>T	ENSP00000337363:p.Phe340Leu					ZNF394_uc003uqt.2_Missense_Mutation_p.F133L	p.F340L	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			3	1181	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		340					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.1020C>A	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554391	0.27739	.	.	ENSG00000160908	ENST00000337673	T	0.05447	3.44	3.73	1.93	0.25924	.	1.573870	0.03943	N	0.287225	T	0.04634	0.0126	N	0.08118	0	0.09310	N	0.999999	B	0.17852	0.024	B	0.06405	0.002	T	0.38200	-0.9672	10	0.87932	D	0	.	7.8626	0.29517	0.2097:0.0:0.7903:0.0	.	340	Q53GI3	ZN394_HUMAN	L	340	ENSP00000337363:F340L	ENSP00000337363:F340L	F	-	3	2	ZNF394	98929754	0.298000	0.24417	0.001000	0.08648	0.004000	0.04260	1.151000	0.31651	0.568000	0.29311	-0.147000	0.13772	TTC		0.483	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1		NM_032164		31	88	1	0	9.78485e-24	0.013726	1.13186e-23	31	88		
MUC17	140453	broad.mit.edu	37	7	100679360	100679360	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:100679360C>G	ENST00000306151.4	+	3	4727	c.4663C>G	c.(4663-4665)Cct>Gct	p.P1555A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1555	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACAACTGC	0.493																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4663-4665)CCT>GCT		mucin 17 precursor							262.0	243.0	250.0					7																	100679360		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679360C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4663C>G	7.37:g.100679360C>G	ENSP00000302716:p.Pro1555Ala					MUC17_uc010lho.1_RNA	p.P1555A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4716	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1555			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|24.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4663C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.571	-0.299717	0.05532	.	.	ENSG00000169876	ENST00000306151	T	0.01887	4.58	0.922	0.922	0.19408	.	.	.	.	.	T	0.03608	0.0103	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	D	0.65323	0.934	T	0.38112	-0.9676	9	0.08381	T	0.77	.	5.3172	0.15862	0.0:1.0:0.0:0.0	.	1555	Q685J3	MUC17_HUMAN	A	1555	ENSP00000302716:P1555A	ENSP00000302716:P1555A	P	+	1	0	MUC17	100466080	0.000000	0.05858	0.027000	0.17364	0.036000	0.12997	-1.423000	0.02450	0.851000	0.35264	0.121000	0.15741	CCT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		70	437	0	0	0	0.01441	0	70	437		
MUC17	140453	broad.mit.edu	37	7	100679868	100679868	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:100679868C>G	ENST00000306151.4	+	3	5235	c.5171C>G	c.(5170-5172)tCt>tGt	p.S1724C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1724	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGACCACTTCTACTGAAGCC	0.478																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(5170-5172)TCT>TGT		mucin 17 precursor							231.0	239.0	236.0					7																	100679868		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679868C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5171C>G	7.37:g.100679868C>G	ENSP00000302716:p.Ser1724Cys					MUC17_uc010lho.1_RNA	p.S1724C	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	5224	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1724			Extracellular (Potential).|59 X approximate tandem repeats.|27.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5171C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	3.650	-0.071769	0.07228	.	.	ENSG00000169876	ENST00000306151	T	0.02103	4.45	1.19	1.19	0.21007	.	.	.	.	.	T	0.03178	0.0093	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	P	0.52710	0.707	T	0.49351	-0.8949	9	0.66056	D	0.02	.	5.8942	0.18929	0.0:1.0:0.0:0.0	.	1724	Q685J3	MUC17_HUMAN	C	1724	ENSP00000302716:S1724C	ENSP00000302716:S1724C	S	+	2	0	MUC17	100466588	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.295000	0.19065	1.000000	0.39049	0.134000	0.15878	TCT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		79	512	0	0	0	0.01441	0	79	512		
CUX1	1523	broad.mit.edu	37	7	101923386	101923386	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:101923386G>C	ENST00000437600.4	+	19	2084	c.1732G>C	c.(1732-1734)Gac>Cac	p.D578H	CUX1_ENST00000393824.3_Missense_Mutation_p.D541H|CUX1_ENST00000547394.2_Missense_Mutation_p.D564H|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.D534H|CUX1_ENST00000292538.4_Missense_Mutation_p.D580H	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGAGCGCCTGGACCCCTTCTC	0.662																																						uc003uyt.2		NaN																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1738-1740)GAC>CAC		cut-like homeobox 1 isoform b							84.0	71.0	75.0					7																	101923386		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101923386G>C	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1732G>C	7.37:g.101923386G>C	ENSP00000414091:p.Asp578His					CUX1_uc011kkn.1_Missense_Mutation_p.D541H|CUX1_uc003uyw.2_Missense_Mutation_p.D534H|CUX1_uc003uyv.2_Missense_Mutation_p.D564H|CUX1_uc003uyu.2_Missense_Mutation_p.D578H|CUX1_uc003uyz.2_RNA	p.D580H	NM_001913	NP_001904	P39880	CUX1_HUMAN			19	1757	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	c.1738G>C	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482369	0.84747	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	3.56	3.56	0.40772	CASP, C-terminal (1);	.	.	.	.	T	0.44871	0.1314	L	0.41710	1.295	0.35276	D	0.780949	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.994	D;D;D;D;P	0.97110	1.0;0.999;0.976;0.999;0.883	T	0.50800	-0.8785	9	0.25106	T	0.35	.	15.7103	0.77623	0.0:0.0:1.0:0.0	.	541;534;564;578;580	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	H	580;564;534;578	ENSP00000292538:D580H;ENSP00000449371:D564H;ENSP00000409745:D534H;ENSP00000414091:D578H	ENSP00000292538:D580H	D	+	1	0	CUX1	101710106	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.819000	0.91997	2.012000	0.59069	0.556000	0.70494	GAC		0.662	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3		NM_001913		22	56	0	0	0	0.004656	0	22	56		
KCND2	3751	broad.mit.edu	37	7	120385895	120385895	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:120385895A>G	ENST00000331113.4	+	5	2494	c.1529A>G	c.(1528-1530)aAt>aGt	p.N510S	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	510					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCAACTGTTAATCGTCCTTCA	0.438																																						uc003vjj.1		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1528-1530)AAT>AGT		potassium voltage-gated channel, Shal-related							124.0	108.0	113.0					7																	120385895		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120385895A>G	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1529A>G	7.37:g.120385895A>G	ENSP00000333496:p.Asn510Ser						p.N510S	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			5	2494	+	all_neural(327;0.117)		510			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.1529A>G	CCDS5776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.93|13.93	2.383008|2.383008	0.42207|0.42207	.|.	.|.	ENSG00000184408|ENSG00000184408	ENST00000425288|ENST00000331113	.|D	.|0.83075	.|-1.68	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Potassium channel, voltage dependent, Kv4, C-terminal (1);	.|0.053409	.|0.64402	.|D	.|0.000001	T|T	0.78175|0.78175	0.4242|0.4242	L|L	0.43152|0.43152	1.355|1.355	0.33136|0.33136	D|D	0.543728|0.543728	.|B	.|0.14012	.|0.009	.|B	.|0.15052	.|0.012	T|T	0.77130|0.77130	-0.2701|-0.2701	5|9	.|.	.|.	.|.	.|.	16.3483|16.3483	0.83171|0.83171	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|510	.|Q9NZV8	.|KCND2_HUMAN	V|S	96|510	.|ENSP00000333496:N510S	.|.	I|N	+|+	1|2	0|0	KCND2|KCND2	120173131|120173131	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.995000|0.995000	0.86356|0.86356	7.265000|7.265000	0.78442|0.78442	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.438	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1		NM_012281		27	51	0	0	0	0.008361	0	27	51		
TSGA13	114960	broad.mit.edu	37	7	130353957	130353957	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:130353957G>T	ENST00000456951.1	-	9	1576	c.725C>A	c.(724-726)tCg>tAg	p.S242*	COPG2_ENST00000445977.2_5'Flank|TSGA13_ENST00000356588.3_Nonsense_Mutation_p.S242*			Q96PP4	TSG13_HUMAN	testis specific, 13	242										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TTCCAAGAGCGATGCGAGTGT	0.582																																						uc003vqi.2		NaN																	0				ovary(2)	2						c.(724-726)TCG>TAG		testis specific, 13							116.0	108.0	110.0					7																	130353957		2203	4300	6503	SO:0001587	stop_gained	114960							g.chr7:130353957G>T	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.725C>A	7.37:g.130353957G>T	ENSP00000406047:p.Ser242*					COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Nonsense_Mutation_p.S242*	p.S242*	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN			8	1182	-	Melanoma(18;0.0435)		242					B3KSC9	Nonsense_Mutation	SNP	ENST00000456951.1	37	c.725C>A	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	G	37	6.106479	0.97286	.	.	ENSG00000213265	ENST00000456951;ENST00000356588	.	.	.	5.44	3.51	0.40186	.	0.994781	0.08144	N	0.991093	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0013	10.4727	0.44646	0.0:0.0:0.6324:0.3676	.	.	.	.	X	242	.	ENSP00000348996:S242X	S	-	2	0	TSGA13	130004497	0.800000	0.28916	0.131000	0.22000	0.102000	0.19082	1.114000	0.31196	0.561000	0.29186	0.561000	0.74099	TCG		0.582	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1		NM_052933		32	72	1	0	3.86903e-22	0.013726	4.46662e-22	32	72		
TBXAS1	6916	broad.mit.edu	37	7	139706905	139706905	+	Missense_Mutation	SNP	C	C	G	rs368716167		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:139706905C>G	ENST00000336425.5	+	14	1538	c.1149C>G	c.(1147-1149)ttC>ttG	p.F383L	TBXAS1_ENST00000458722.1_Missense_Mutation_p.F429L|TBXAS1_ENST00000263552.6_Missense_Mutation_p.F384L|TBXAS1_ENST00000448866.1_Missense_Mutation_p.F383L|TBXAS1_ENST00000436047.2_Missense_Mutation_p.F384L|TBXAS1_ENST00000425687.1_Missense_Mutation_p.F316L|TBXAS1_ENST00000411653.1_Missense_Mutation_p.F383L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Missense_Mutation_p.F430L|TBXAS1_ENST00000414508.2_Missense_Mutation_p.F384L			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	383					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCCCTGAGTTCTGCAGCCTCG	0.532																																						uc011kqv.1		NaN																	0				ovary(2)|breast(1)	3						c.(1288-1290)TTC>TTG		thromboxane A synthase 1, platelet isoform							157.0	153.0	154.0					7																	139706905		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139706905C>G	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1149C>G	7.37:g.139706905C>G	ENSP00000338087:p.Phe383Leu					TBXAS1_uc003vvh.2_Missense_Mutation_p.F384L|TBXAS1_uc010lne.2_Missense_Mutation_p.F316L|TBXAS1_uc011kqu.1_Missense_Mutation_p.F335L|TBXAS1_uc003vvi.2_Missense_Mutation_p.F384L|TBXAS1_uc003vvj.2_Missense_Mutation_p.F384L|TBXAS1_uc011kqw.1_Missense_Mutation_p.F364L	p.F430L	NM_001130966	NP_001124438	P24557	THAS_HUMAN			11	1454	+	Melanoma(164;0.0142)		383			Cytoplasmic (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.1290C>G		.	.	.	.	.	.	.	.	.	.	C	15.72	2.916408	0.52546	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	4.27	3.39	0.38822	.	0.217539	0.40728	N	0.001035	T	0.43322	0.1242	N	0.05487	-0.04	0.09310	N	1	B;B;B;B;B;B;B	0.12013	0.005;0.004;0.0;0.001;0.004;0.001;0.001	B;B;B;B;B;B;B	0.23018	0.022;0.01;0.004;0.007;0.043;0.004;0.002	T	0.26608	-1.0098	10	0.25106	T	0.35	.	9.4253	0.38576	0.0:0.8968:0.0:0.1032	.	364;430;335;316;384;384;383	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	L	316;384;383;430;384;384;383;429;383	ENSP00000388736:F316L;ENSP00000263552:F384L;ENSP00000338087:F383L;ENSP00000389414:F430L;ENSP00000392361:F384L;ENSP00000392702:F384L;ENSP00000402536:F383L;ENSP00000411274:F429L;ENSP00000411326:F383L	ENSP00000263552:F384L	F	+	3	2	TBXAS1	139353374	0.260000	0.24053	0.058000	0.19502	0.657000	0.38888	1.338000	0.33873	0.908000	0.36671	0.650000	0.86243	TTC		0.532	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1				60	133	0	0	0	0.01441	0	60	133		
OR2A25	392138	broad.mit.edu	37	7	143771967	143771967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:143771967C>T	ENST00000408898.2	+	1	693	c.655C>T	c.(655-657)Cat>Tat	p.H219Y		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ATCTTATGTTCATATTCTATG	0.483																																						uc011ktx.1		NaN																	0					0						c.(655-657)CAT>TAT		olfactory receptor, family 2, subfamily A,							107.0	115.0	112.0					7																	143771967		2072	4230	6302	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771967C>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.655C>T	7.37:g.143771967C>T	ENSP00000386167:p.His219Tyr						p.H219Y	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	655	+	Melanoma(164;0.0783)		219			Cytoplasmic (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.655C>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.107967	0.00353	.	.	ENSG00000221933	ENST00000408898	T	0.00063	8.78	4.84	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.17631	0.505	0.09310	N	1	P	0.43542	0.81	B	0.42112	0.376	T	0.02797	-1.1109	9	0.10902	T	0.67	-3.7573	6.9431	0.24504	0.0:0.7217:0.0:0.2783	.	219	A4D2G3	O2A25_HUMAN	Y	219	ENSP00000386167:H219Y	ENSP00000386167:H219Y	H	+	1	0	OR2A25	143402900	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.456000	0.02377	0.646000	0.30693	-0.244000	0.11960	CAT		0.483	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1				25	60	0	0	0	0.003954	0	25	60		
ZNF777	27153	broad.mit.edu	37	7	149129883	149129883	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:149129883C>G	ENST00000247930.4	-	6	1803	c.1480G>C	c.(1480-1482)Gag>Cag	p.E494Q		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGACATCTCCCCGGGCAGC	0.662																																						uc003wfv.2		NaN																	0				skin(1)	1						c.(1480-1482)GAG>CAG		zinc finger protein 777							18.0	20.0	19.0					7																	149129883		1980	4150	6130	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129883C>G	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1480G>C	7.37:g.149129883C>G	ENSP00000247930:p.Glu494Gln						p.E494Q	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	1643	-	Melanoma(164;0.165)		494					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1480G>C	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984156	0.35036	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05580	3.42	4.44	4.44	0.53790	.	0.254581	0.27509	N	0.019045	T	0.03915	0.0110	N	0.14661	0.345	0.30514	N	0.769142	P	0.44816	0.844	B	0.38106	0.265	T	0.31752	-0.9932	10	0.20046	T	0.44	-24.6806	12.4623	0.55738	0.0:1.0:0.0:0.0	.	494	Q9ULD5-2	.	Q	494;237	ENSP00000247930:E494Q	ENSP00000247930:E494Q	E	-	1	0	ZNF777	148760816	0.000000	0.05858	0.954000	0.39281	0.837000	0.47467	0.764000	0.26532	2.303000	0.77524	0.467000	0.42956	GAG		0.662	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1		NM_015694		7	27	0	0	0	0.004482	0	7	27		
KMT2C	58508	broad.mit.edu	37	7	151945439	151945439	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:151945439G>A	ENST00000262189.6	-	14	2298	c.2080C>T	c.(2080-2082)Ctt>Ttt	p.L694F	KMT2C_ENST00000355193.2_Missense_Mutation_p.L694F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	694					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTAGTGGAAGAGTGACAGAT	0.423																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2080-2082)CTT>TTT		myeloid/lymphoid or mixed-lineage leukemia 3							70.0	67.0	68.0					7																	151945439		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945439G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2080C>T	7.37:g.151945439G>A	ENSP00000262189:p.Leu694Phe						p.L694F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2299	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	694					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2080C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	7.750	0.703049	0.15172	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83673	-1.75;-1.75	5.38	-0.753	0.11068	.	0.972892	0.08282	U	0.969734	T	0.65790	0.2725	N	0.14661	0.345	0.09310	N	1	B	0.25521	0.128	B	0.16289	0.015	T	0.50030	-0.8875	10	0.40728	T	0.16	.	5.996	0.19495	0.0:0.4481:0.2282:0.3237	.	694	Q8NEZ4	MLL3_HUMAN	F	694	ENSP00000262189:L694F;ENSP00000347325:L694F	ENSP00000262189:L694F	L	-	1	0	MLL3	151576372	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.237000	0.08990	-0.378000	0.07918	-0.171000	0.13296	CTT		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				5	40	0	0	0	0.000602	0	5	40		
DOK2	9046	broad.mit.edu	37	8	21767094	21767094	+	Missense_Mutation	SNP	G	G	C	rs373240046		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:21767094G>C	ENST00000276420.4	-	5	1225	c.967C>G	c.(967-969)Cag>Gag	p.Q323E	DOK2_ENST00000544659.1_Missense_Mutation_p.Q169E	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	323	Pro-rich.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCCAGGAGCTGAGGAGGGACT	0.647																																						uc003wzy.1		NaN																	0					0						c.(967-969)CAG>GAG		docking protein 2		G	GLU/GLN	2,4404	4.2+/-10.8	0,2,2201	63.0	59.0	60.0		967	5.4	0.8	8		60	0,8600		0,0,4300	no	missense	DOK2	NM_003974.2	29	0,2,6501	CC,CG,GG		0.0,0.0454,0.0154	benign	323/413	21767094	2,13004	2203	4300	6503	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21767094G>C	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.967C>G	8.37:g.21767094G>C	ENSP00000276420:p.Gln323Glu					DOK2_uc003wzx.1_Missense_Mutation_p.Q323E|DOK2_uc003wzz.1_Missense_Mutation_p.Q169E|DOK2_uc010lth.1_Missense_Mutation_p.Q169E	p.Q323E	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	5	1060	-			323			Pro-rich.		Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.967C>G	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	G	6.543	0.468403	0.12461	4.54E-4	0.0	ENSG00000147443	ENST00000276420;ENST00000544659	T;T	0.29917	1.97;1.55	5.42	5.42	0.78866	.	1.063950	0.07681	U	0.937156	T	0.32071	0.0817	M	0.65975	2.015	0.29325	N	0.867116	B;B	0.29037	0.231;0.231	B;B	0.24541	0.054;0.054	T	0.49661	-0.8916	10	0.02654	T	1	.	14.7137	0.69251	0.0:0.0:1.0:0.0	.	323;323	O60496;A8K7W1	DOK2_HUMAN;.	E	323;169	ENSP00000276420:Q323E;ENSP00000443602:Q169E	ENSP00000276420:Q323E	Q	-	1	0	DOK2	21823040	0.199000	0.23386	0.842000	0.33263	0.197000	0.23852	2.443000	0.44881	2.541000	0.85698	0.655000	0.94253	CAG		0.647	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3		NM_003974		30	43	0	0	0	0.012213	0	30	43		
PEBP4	157310	broad.mit.edu	37	8	22570973	22570973	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:22570973C>G	ENST00000256404.6	-	7	685	c.594G>C	c.(592-594)caG>caC	p.Q198H	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	198						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		CCTGGTAGTTCTGGGTCATGA	0.557																																						uc003xcn.1		NaN																	0				ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(592-594)CAG>CAC		phosphatidylethanolamine-binding protein 4							93.0	100.0	97.0					8																	22570973		1987	4154	6141	SO:0001583	missense	157310					lysosome		g.chr8:22570973C>G	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.594G>C	8.37:g.22570973C>G	ENSP00000256404:p.Gln198His						p.Q198H	NM_144962	NP_659399	Q96S96	PEBP4_HUMAN		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)	7	686	-		Prostate(55;0.0453)|Breast(100;0.103)	198					Q5EVA1|Q8WW74	Missense_Mutation	SNP	ENST00000256404.6	37	c.594G>C	CCDS43724.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873966	0.51695	.	.	ENSG00000134020	ENST00000256404	T	0.49432	0.78	5.53	0.116	0.14647	.	0.716171	0.12902	N	0.429670	T	0.50034	0.1592	L	0.29908	0.895	0.22468	N	0.999074	D	0.76494	0.999	D	0.65573	0.936	T	0.40403	-0.9565	10	0.72032	D	0.01	-10.0887	8.4841	0.33061	0.0:0.5938:0.0:0.4062	.	198	Q96S96	PEBP4_HUMAN	H	198	ENSP00000256404:Q198H	ENSP00000256404:Q198H	Q	-	3	2	PEBP4	22626918	0.016000	0.18221	0.110000	0.21437	0.820000	0.46376	-0.137000	0.10389	0.197000	0.20387	0.561000	0.74099	CAG		0.557	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2		NM_144962		8	18	0	0	0	0.00308	0	8	18		
PUF60	22827	broad.mit.edu	37	8	144899273	144899273	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:144899273G>A	ENST00000526683.1	-	11	1742	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L	PUF60_ENST00000313352.7_Missense_Mutation_p.S336L|PUF60_ENST00000456095.2_Missense_Mutation_p.S367L|SCRIB_ENST00000320476.3_5'Flank|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000527197.1_Missense_Mutation_p.S350L|PUF60_ENST00000349157.6_Missense_Mutation_p.S379L|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000453551.2_Missense_Mutation_p.S353L|SCRIB_ENST00000356994.2_5'Flank	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	396	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACTCCCACCGAGGGGATGGT	0.612																																						uc003yzs.2		NaN																	0					0						c.(1186-1188)TCG>TTG		poly-U binding splicing factor 60KDa isoform a							29.0	28.0	28.0					8																	144899273		2086	4211	6297	SO:0001583	missense	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144899273G>A	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1187C>T	8.37:g.144899273G>A	ENSP00000434359:p.Ser396Leu					SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.S336L|PUF60_uc003yzt.2_Missense_Mutation_p.S379L|PUF60_uc003yzq.2_Missense_Mutation_p.S353L|PUF60_uc003yzu.1_Missense_Mutation_p.S385L	p.S396L	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1251	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		396			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	ENST00000526683.1	37	c.1187C>T	CCDS47934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.65|12.65	2.000513|2.000513	0.35320|0.35320	.|.	.|.	ENSG00000179950|ENSG00000179950	ENST00000532884|ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197	.|T;T;T;T;T;T	.|0.14516	.|2.6;2.62;2.62;2.61;2.5;2.62	4.77|4.77	2.85|2.85	0.33270|0.33270	.|.	.|0.506800	.|0.20609	.|N	.|0.089019	T|T	0.07818|0.07818	0.0196|0.0196	N|N	0.19112|0.19112	0.55|0.55	0.31957|0.31957	N|N	0.60888|0.60888	.|B;B;B	.|0.22604	.|0.072;0.033;0.019	.|B;B;B	.|0.11329	.|0.006;0.002;0.001	T|T	0.12293|0.12293	-1.0553|-1.0553	5|10	.|0.30078	.|T	.|0.28	.|.	7.7139|7.7139	0.28694|0.28694	0.0828:0.0:0.6582:0.259|0.0828:0.0:0.6582:0.259	.|.	.|367;379;396	.|Q9UHX1-5;Q9UHX1-2;Q9UHX1	.|.;.;PUF60_HUMAN	W|L	266|396;353;336;367;379;350	.|ENSP00000434359:S396L;ENSP00000402953:S353L;ENSP00000322016:S336L;ENSP00000395417:S367L;ENSP00000322036:S379L;ENSP00000431960:S350L	.|ENSP00000322016:S336L	R|S	-|-	1|2	2|0	PUF60|PUF60	144971261|144971261	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.905000|0.905000	0.53344|0.53344	4.239000|4.239000	0.58694|0.58694	1.013000|1.013000	0.39391|0.39391	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.612	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1		NM_014281		5	32	0	0	0	0.00308	0	5	32		
NRBP2	340371	broad.mit.edu	37	8	144921499	144921499	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:144921499G>C	ENST00000442628.2	-	6	706	c.567C>G	c.(565-567)atC>atG	p.I189M	NRBP2_ENST00000327830.5_De_novo_Start_InFrame	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCCGATCTTGATGAGGCCGT	0.657																																						uc011lkt.1		NaN																	0				central_nervous_system(2)	2						c.(565-567)ATC>ATG		nuclear receptor binding protein 2																																				SO:0001583	missense	340371				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity	g.chr8:144921499G>C	BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.567C>G	8.37:g.144921499G>C	ENSP00000414055:p.Ile189Met					NRBP2_uc003yzv.2_Translation_Start_Site|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Translation_Start_Site|NRBP2_uc011lks.1_Translation_Start_Site|NRBP2_uc003yzy.2_Translation_Start_Site	p.I189M	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		6	707	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		189			Protein kinase.			Missense_Mutation	SNP	ENST00000442628.2	37	c.567C>G	CCDS34959.2	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265765	0.59540	.	.	ENSG00000185189	ENST00000442628;ENST00000530347	T;D	0.84370	-0.99;-1.84	3.76	2.86	0.33363	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.91805	0.7407	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91888	0.5521	9	0.87932	D	0	.	9.3067	0.37878	0.1103:0.0:0.8897:0.0	.	189	Q9NSY0	NRBP2_HUMAN	M	189;141	ENSP00000414055:I189M;ENSP00000432374:I141M	ENSP00000414055:I189M	I	-	3	3	NRBP2	144993487	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.543000	0.36147	1.653000	0.50694	0.511000	0.50034	ATC		0.657	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1		NM_178564		3	28	0	0	0	0.009096	0	3	28		
PLEC	5339	broad.mit.edu	37	8	144999683	144999683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:144999683C>T	ENST00000322810.4	-	31	4994	c.4825G>A	c.(4825-4827)Gag>Aag	p.E1609K	PLEC_ENST00000345136.3_Missense_Mutation_p.E1472K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1450K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1472K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1495K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1458K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1440K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1499K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1476K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1609	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTCCCCCTCAGCCCCGCCA	0.721																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(4825-4827)GAG>AAG		plectin isoform 1							9.0	9.0	9.0					8																	144999683		1864	3767	5631	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144999683C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4825G>A	8.37:g.144999683C>T	ENSP00000323856:p.Glu1609Lys					PLEC_uc003zab.1_Missense_Mutation_p.E1472K|PLEC_uc003zac.1_Missense_Mutation_p.E1476K|PLEC_uc003zad.2_Missense_Mutation_p.E1472K|PLEC_uc003zae.1_Missense_Mutation_p.E1440K|PLEC_uc003zag.1_Missense_Mutation_p.E1450K|PLEC_uc003zah.2_Missense_Mutation_p.E1458K|PLEC_uc003zaj.2_Missense_Mutation_p.E1499K	p.E1609K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	4995	-			1609			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.4825G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299776	0.40694	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	4.43	3.55	0.40652	.	0.276976	0.27084	U	0.021010	T	0.38401	0.1039	M	0.71581	2.175	0.44862	D	0.99787	P;P;P;P;P;P;P;P	0.50156	0.932;0.932;0.932;0.888;0.932;0.932;0.932;0.932	P;P;P;P;P;P;P;P	0.50970	0.655;0.655;0.655;0.453;0.655;0.655;0.655;0.655	T	0.30621	-0.9972	10	0.62326	D	0.03	.	11.894	0.52646	0.0:0.9124:0.0:0.0876	.	1499;1458;1450;1609;1440;1472;1476;1472	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	1472;1476;1472;1440;1609;1450;1458;1499;1495	ENSP00000344848:E1472K;ENSP00000350277:E1476K;ENSP00000346602:E1472K;ENSP00000381756:E1440K;ENSP00000323856:E1609K;ENSP00000347044:E1450K;ENSP00000348702:E1458K;ENSP00000388180:E1499K;ENSP00000434583:E1495K	ENSP00000323856:E1609K	E	-	1	0	PLEC	145071671	0.999000	0.42202	0.069000	0.20011	0.098000	0.18820	3.821000	0.55700	0.972000	0.38314	0.442000	0.29010	GAG		0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		5	25	0	0	0	0.001168	0	5	25		
HSF1	3297	broad.mit.edu	37	8	145533476	145533476	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:145533476G>A	ENST00000528838.1	+	4	542	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	HSF1_ENST00000400780.4_Missense_Mutation_p.E63K	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	128					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCTGAAGAGTGAAGACATAAA	0.602																																						uc003zbt.3		NaN																	0					0						c.(382-384)GAA>AAA		heat shock transcription factor 1							93.0	91.0	92.0					8																	145533476		2203	4296	6499	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145533476G>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.382G>A	8.37:g.145533476G>A	ENSP00000431512:p.Glu128Lys					HSF1_uc003zbu.3_RNA	p.E128K	NM_005526	NP_005517	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		4	552	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		128					A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.382G>A	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697692	0.68386	.	.	ENSG00000185122	ENST00000528838;ENST00000533240;ENST00000400780	.	.	.	5.18	4.31	0.51392	.	0.161907	0.53938	D	0.000051	T	0.61776	0.2374	M	0.79011	2.435	0.58432	D	0.999998	P	0.42620	0.785	B	0.43413	0.419	T	0.67007	-0.5779	9	0.87932	D	0	-16.3978	11.4145	0.49943	0.0884:0.0:0.9116:0.0	.	128	Q00613	HSF1_HUMAN	K	128;63;63	.	ENSP00000383590:E63K	E	+	1	0	HSF1	145504284	1.000000	0.71417	0.233000	0.24025	0.856000	0.48823	7.417000	0.80156	1.180000	0.42898	0.556000	0.70494	GAA		0.602	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1		NM_005526		16	152	0	0	0	0.00278	0	16	152		
GLDC	2731	broad.mit.edu	37	9	6540106	6540106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:6540106G>C	ENST00000321612.6	-	22	2760	c.2610C>G	c.(2608-2610)ttC>ttG	p.F870L	RN7SL25P_ENST00000583862.1_RNA	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	870					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CAGACTTTTTGAAGGGTCTCG	0.448																																						uc003zkc.2		NaN																	0				ovary(2)	2						c.(2608-2610)TTC>TTG		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						131.0	114.0	120.0					9																	6540106		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6540106G>C	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2610C>G	9.37:g.6540106G>C	ENSP00000370737:p.Phe870Leu						p.F870L	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	22	2803	-		Acute lymphoblastic leukemia(23;0.161)	870					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2610C>G	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	6.491	0.458822	0.12342	.	.	ENSG00000178445	ENST00000321612	D	0.88354	-2.37	5.16	4.26	0.50523	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	L	0.33792	1.035	0.80722	D	1	B	0.25667	0.131	B	0.25506	0.061	T	0.73461	-0.3975	10	0.02654	T	1	-20.0684	13.9036	0.63821	0.074:0.0:0.926:0.0	.	870	P23378	GCSP_HUMAN	L	870	ENSP00000370737:F870L	ENSP00000370737:F870L	F	-	3	2	GLDC	6530106	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.820000	0.55693	1.293000	0.44690	0.591000	0.81541	TTC		0.448	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2		NM_000170		19	90	0	0	0	0.010504	0	19	90		
CCDC171	203238	broad.mit.edu	37	9	15623317	15623317	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:15623317C>G	ENST00000380701.3	+	7	1056	c.728C>G	c.(727-729)aCa>aGa	p.T243R	CCDC171_ENST00000535968.1_Missense_Mutation_p.T243R|CCDC171_ENST00000297641.3_Missense_Mutation_p.T243R	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	243	Glu-rich.																AAATTAGAAACAGAACATATG	0.348																																						uc003zmd.2		NaN																	0					0						c.(727-729)ACA>AGA		hypothetical protein LOC203238							144.0	147.0	146.0					9																	15623317		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15623317C>G	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.728C>G	9.37:g.15623317C>G	ENSP00000370077:p.Thr243Arg					C9orf93_uc010mih.1_Missense_Mutation_p.T243R|C9orf93_uc003zme.2_Missense_Mutation_p.T150R|C9orf93_uc011lmu.1_Missense_Mutation_p.T243R|C9orf93_uc003zmc.2_Missense_Mutation_p.T243R	p.T243R	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	7	1043	+			243			Potential.|Glu-rich.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.728C>G	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488749	0.26686	.	.	ENSG00000164989	ENST00000535968;ENST00000297641;ENST00000380701	T;T;T	0.29397	1.57;2.58;2.58	5.4	-0.139	0.13460	.	1.014330	0.07871	N	0.967847	T	0.15089	0.0364	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.08055	0.0;0.0;0.0;0.003	T	0.32348	-0.9910	10	0.13108	T	0.6	-0.0018	1.3567	0.02184	0.1462:0.2728:0.3484:0.2325	.	243;243;243;243	B7ZM22;Q6TFL3-3;Q6TFL3;Q7Z3F8	.;.;CI093_HUMAN;.	R	243	ENSP00000438838:T243R;ENSP00000297641:T243R;ENSP00000370077:T243R	ENSP00000297641:T243R	T	+	2	0	C9orf93	15613317	0.000000	0.05858	0.838000	0.33150	0.991000	0.79684	0.082000	0.14847	0.307000	0.22880	0.557000	0.71058	ACA		0.348	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4		NM_173550		15	72	0	0	0	0.006122	0	15	72		
SLC24A2	25769	broad.mit.edu	37	9	19521029	19521029	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:19521029C>G	ENST00000341998.2	-	9	1660	c.1599G>C	c.(1597-1599)gaG>gaC	p.E533D	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E516D	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	533					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGCCCATAATCTCTTCACTGA	0.448																																						uc003zoa.1		NaN																	0				ovary(3)	3						c.(1597-1599)GAG>GAC		solute carrier family 24							102.0	91.0	95.0					9																	19521029		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19521029C>G	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1599G>C	9.37:g.19521029C>G	ENSP00000344801:p.Glu533Asp					SLC24A2_uc003zob.1_Missense_Mutation_p.E516D	p.E533D	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	9	1661	-			533			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1599G>C	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840544	0.71488	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.80123	-1.34;-1.34	5.2	2.11	0.27256	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	L	0.58510	1.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	T	0.80555	-0.1330	9	.	.	.	.	5.5496	0.17083	0.0:0.5075:0.0:0.4925	.	516;533	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	D	533;516	ENSP00000344801:E533D;ENSP00000286344:E516D	.	E	-	3	2	SLC24A2	19511029	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.007000	0.40883	0.755000	0.32990	0.655000	0.94253	GAG		0.448	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2		NM_020344		14	17	0	0	0	0.007413	0	14	17		
ALDH1A1	216	broad.mit.edu	37	9	75540481	75540481	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:75540481C>G	ENST00000297785.3	-	6	606	c.552G>C	c.(550-552)ctG>ctC	p.L184L	ALDH1A1_ENST00000376939.1_Silent_p.L184L|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	184					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TTCCACAGCTCAGTGCAGGCC	0.423																																						uc004ajd.2		NaN																	0				ovary(3)|lung(1)	4						c.(550-552)CTG>CTC		aldehyde dehydrogenase 1A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						112.0	98.0	103.0					9																	75540481		2203	4300	6503	SO:0001819	synonymous_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75540481C>G	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.552G>C	9.37:g.75540481C>G						ALDH1A1_uc011lsh.1_Silent_p.L105L|ALDH1A1_uc011lsg.1_Silent_p.L10L	p.L184L	NM_000689	NP_000680	P00352	AL1A1_HUMAN			6	605	-			184					O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	c.552G>C	CCDS6644.1																																																																																				0.423	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1				24	30	0	0	0	0.004656	0	24	30		
PRUNE2	158471	broad.mit.edu	37	9	79318656	79318656	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:79318656C>T	ENST00000376718.3	-	9	7996	c.7873G>A	c.(7873-7875)Gaa>Aaa	p.E2625K	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E2266K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2625					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCAGGGCTTTCAAAAGATGAT	0.493																																						uc010mpk.2		NaN																	0					0						c.(7873-7875)GAA>AAA		prune homolog 2							69.0	63.0	65.0					9																	79318656		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318656C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7873G>A	9.37:g.79318656C>T	ENSP00000365908:p.Glu2625Lys					PRUNE2_uc004akj.3_Missense_Mutation_p.E78K|PRUNE2_uc010mpl.1_Missense_Mutation_p.E78K	p.E2625K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			9	7997	-			2625					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7873G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050765	0.55218	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.54479	0.57;0.58	5.93	5.03	0.67393	.	0.203560	0.34879	N	0.003610	T	0.59432	0.2193	M	0.61703	1.905	0.48288	D	0.999623	D;P	0.53619	0.961;0.935	P;B	0.52159	0.691;0.411	T	0.63800	-0.6555	10	0.87932	D	0	-9.4151	10.413	0.44305	0.0:0.8513:0.0:0.1487	.	2625;2625	Q8WUY3-3;Q8WUY3	.;PRUN2_HUMAN	K	2625;2266;2624	ENSP00000365908:E2625K;ENSP00000397425:E2266K	ENSP00000365908:E2625K	E	-	1	0	PRUNE2	78508476	0.991000	0.36638	0.097000	0.21041	0.289000	0.27227	3.760000	0.55235	1.521000	0.48983	0.591000	0.81541	GAA		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818		3	9	0	0	0	0.004672	0	3	9		
S1PR3	1903	broad.mit.edu	37	9	91617099	91617099	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:91617099C>T	ENST00000375846.3	+	1	5679	c.984C>T	c.(982-984)atC>atT	p.I328I	S1PR3_ENST00000358157.2_Silent_p.I328I			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	328					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CCTCACCCATCCAGCCTGCGC	0.627																																						uc004aqe.2		NaN																	0				ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(982-984)ATC>ATT		sphingosine-1-phosphate receptor 3							47.0	52.0	50.0					9																	91617099		2203	4300	6503	SO:0001819	synonymous_variant	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91617099C>T	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.984C>T	9.37:g.91617099C>T							p.I328I	NM_005226	NP_005217	Q99500	S1PR3_HUMAN			2	1380	+			328			Cytoplasmic (By similarity).		Q5SQD8|Q7Z5I2	Silent	SNP	ENST00000375846.3	37	c.984C>T	CCDS6680.1																																																																																				0.627	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2		NM_005226		18	27	0	0	0	0.012319	0	18	27		
FAM129B	64855	broad.mit.edu	37	9	130269539	130269539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:130269539G>A	ENST00000373312.3	-	14	2039	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L	FAM129B_ENST00000373314.3_Missense_Mutation_p.S596L|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	609					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GAGGGTGGCTGACTCCGGGGT	0.697																																						uc004brh.2		NaN																	0					0						c.(1825-1827)TCA>TTA		hypothetical protein LOC64855 isoform 1							23.0	26.0	25.0					9																	130269539		2201	4286	6487	SO:0001583	missense	64855						protein binding	g.chr9:130269539G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1826C>T	9.37:g.130269539G>A	ENSP00000362409:p.Ser609Leu					FAM129B_uc004bri.2_Missense_Mutation_p.S596L|FAM129B_uc004brj.3_3'UTR	p.S609L	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			14	2028	-			609					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1826C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	9.649	1.140944	0.21205	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.25749	1.78;1.78	4.72	0.249	0.15531	.	0.419011	0.25341	N	0.031371	T	0.12944	0.0314	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.003	T	0.14448	-1.0472	10	0.54805	T	0.06	-0.1224	2.98	0.05951	0.1016:0.3287:0.4008:0.1689	.	596;609	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	L	596;259;609	ENSP00000362411:S596L;ENSP00000362409:S609L	ENSP00000362409:S609L	S	-	2	0	FAM129B	129309360	0.000000	0.05858	0.004000	0.12327	0.473000	0.32948	0.290000	0.18975	-0.018000	0.14079	0.561000	0.74099	TCA		0.697	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1		NM_022833		15	12	0	0	0	0.006122	0	15	12		
GOLGA2	2801	broad.mit.edu	37	9	131028091	131028091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:131028091G>A	ENST00000421699.2	-	10	733	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	GOLGA2_ENST00000609374.1_Nonsense_Mutation_p.Q229*	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	241					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GCAGCATGCTGAGTGTGAGCC	0.532																																						uc011maw.1		NaN																	0				ovary(1)	1						c.(721-723)CAG>TAG		Golgi autoantigen, golgin subfamily a, 2							76.0	70.0	72.0					9																	131028091		2203	4300	6503	SO:0001587	stop_gained	2801					Golgi cisterna membrane	protein binding	g.chr9:131028091G>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.721C>T	9.37:g.131028091G>A	ENSP00000416097:p.Gln241*					GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_Nonsense_Mutation_p.Q142*|GOLGA2_uc004bum.1_Nonsense_Mutation_p.Q115*	p.Q241*	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			10	734	-			241			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Nonsense_Mutation	SNP	ENST00000421699.2	37	c.721C>T	CCDS6896.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.82|16.82	3.227291|3.227291	0.58668|0.58668	.|.	.|.	ENSG00000167110|ENSG00000167110	ENST00000421699;ENST00000450617|ENST00000458730	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76126	.|0.3944	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74691	.|-0.3580	.|3	0.16420|.	T|.	0.52|.	.|.	19.339|19.339	0.94334|0.94334	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	241;268|173	.|.	ENSP00000416097:Q241X|.	Q|S	-|-	1|2	0|0	GOLGA2|GOLGA2	130067912|130067912	1.000000|1.000000	0.71417|0.71417	0.761000|0.761000	0.31378|0.31378	0.034000|0.034000	0.12701|0.12701	9.417000|9.417000	0.97391|0.97391	2.632000|2.632000	0.89209|0.89209	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.532	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2		NM_004486		22	54	0	0	0	0.007291	0	22	54		
KCNT1	57582	broad.mit.edu	37	9	138650273	138650273	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:138650273G>A	ENST00000263604.3	+	10	716	c.716G>A	c.(715-717)cGt>cAt	p.R239H	KCNT1_ENST00000486577.2_Missense_Mutation_p.R219H|KCNT1_ENST00000371757.2_Missense_Mutation_p.R258H|KCNT1_ENST00000490355.2_Missense_Mutation_p.R239H|KCNT1_ENST00000488444.2_Missense_Mutation_p.R239H|KCNT1_ENST00000487664.1_Missense_Mutation_p.R210H|KCNT1_ENST00000298480.5_Missense_Mutation_p.R258H|KCNT1_ENST00000491806.2_Missense_Mutation_p.R225H			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	239					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GACTTCCACCGTGCCATCCTG	0.587																																						uc011mdq.1		NaN																	0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(772-774)CGT>CAT		potassium channel, subfamily T, member 1							228.0	171.0	191.0					9																	138650273		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138650273G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.716G>A	9.37:g.138650273G>A	ENSP00000263604:p.Arg239His					KCNT1_uc011mdr.1_Missense_Mutation_p.R85H|KCNT1_uc010nbf.2_Missense_Mutation_p.R210H|KCNT1_uc004cgo.1_Missense_Mutation_p.R7H	p.R258H	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	10	847	+		Myeloproliferative disorder(178;0.0821)	258					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.773G>A		.	.	.	.	.	.	.	.	.	.	G	26.7	4.760555	0.89932	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;D;T	0.97430	1.84;1.84;1.84;-4.38;1.84	4.87	4.87	0.63330	.	0.000000	0.64402	U	0.000001	D	0.98482	0.9494	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.99;0.992;0.99	D	0.99787	1.1030	10	0.87932	D	0	-2.9667	16.9827	0.86333	0.0:0.0:1.0:0.0	.	225;258;210;239	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	H	210;258;258;205;219;225;239;239;239	ENSP00000417851:R210H;ENSP00000298480:R258H;ENSP00000360822:R258H;ENSP00000420764:R205H;ENSP00000263604:R239H	ENSP00000263604:R239H	R	+	2	0	KCNT1	137790094	1.000000	0.71417	0.954000	0.39281	0.832000	0.47134	9.372000	0.97165	2.239000	0.73571	0.313000	0.20887	CGT		0.587	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_020822		17	81	0	0	0	0.014323	0	17	81		
INPP5E	56623	broad.mit.edu	37	9	139326391	139326391	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:139326391G>A	ENST00000371712.3	-	7	1836	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGCGGAAGTTGAAGTCTCCAA	0.667																																						uc004cho.2		NaN																	0				skin(1)	1						c.(1432-1434)TTC>TTT		inositol polyphosphate-5-phosphatase E							56.0	53.0	54.0					9																	139326391		2202	4300	6502	SO:0001819	synonymous_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139326391G>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1434C>T	9.37:g.139326391G>A						INPP5E_uc010nbm.2_Silent_p.F477F	p.F478F	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	7	1819	-		Myeloproliferative disorder(178;0.0511)	478					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	37	c.1434C>T	CCDS7000.1																																																																																				0.667	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1		NM_019892		22	23	0	0	0	0.008361	0	22	23		
GRIN1	2902	broad.mit.edu	37	9	140051206	140051206	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:140051206G>A	ENST00000371561.3	+	5	1854	c.757G>A	c.(757-759)Gag>Aag	p.E253K	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.E253K|GRIN1_ENST00000371553.3_Missense_Mutation_p.E274K|GRIN1_ENST00000371546.4_Missense_Mutation_p.E274K|GRIN1_ENST00000371550.4_Missense_Mutation_p.E253K|GRIN1_ENST00000350902.5_Missense_Mutation_p.E253K|GRIN1_ENST00000371555.4_Missense_Mutation_p.E274K|GRIN1_ENST00000315048.3_Missense_Mutation_p.E253K|GRIN1_ENST00000371560.3_Missense_Mutation_p.E274K	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	253					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGGCGAGCGCGAGATCTCGGG	0.697																																					NSCLC(113;717 1653 2089 20474 37618)	uc004clk.2		NaN																	0				skin(1)	1						c.(757-759)GAG>AAG		NMDA receptor 1 isoform NR1-3 precursor	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						27.0	25.0	26.0					9																	140051206		2182	4285	6467	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140051206G>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.757G>A	9.37:g.140051206G>A	ENSP00000360616:p.Glu253Lys					GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.E250K|GRIN1_uc004cll.2_Missense_Mutation_p.E253K|GRIN1_uc004clm.2_Missense_Mutation_p.E253K|GRIN1_uc004cln.2_Missense_Mutation_p.E271K|GRIN1_uc004clo.2_Missense_Mutation_p.E271K	p.E253K	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	5	1087	+	all_cancers(76;0.0926)		253			Extracellular (Potential).		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.757G>A	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945906	0.73672	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	D;D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	4.29	3.38	0.38709	Extracellular ligand-binding receptor (1);	0.262657	0.37955	N	0.001877	T	0.81088	0.4750	N	0.22421	0.69	0.58432	D	0.999998	P;B;D;D;D;D	0.76494	0.816;0.191;0.999;0.999;0.999;0.998	B;B;P;P;P;P	0.61477	0.343;0.027;0.884;0.884;0.889;0.877	T	0.79761	-0.1667	10	0.39692	T	0.17	.	10.2303	0.43252	0.1009:0.0:0.8991:0.0	.	274;274;253;253;253;253	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	K	253;253;253;253;274;274;274;253;274	ENSP00000360616:E253K;ENSP00000316696:E253K;ENSP00000316915:E253K;ENSP00000360605:E253K;ENSP00000360601:E274K;ENSP00000360610:E274K;ENSP00000360608:E274K;ENSP00000360614:E253K;ENSP00000360615:E274K	ENSP00000316696:E253K	E	+	1	0	GRIN1	139171027	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.233000	0.78125	1.926000	0.55796	0.491000	0.48974	GAG		0.697	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3		NM_007327		6	3	0	0	0	0.001984	0	6	3		
GRIN1	2902	broad.mit.edu	37	9	140051368	140051368	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:140051368G>A	ENST00000371561.3	+	6	1944	c.847G>A	c.(847-849)Gac>Aac	p.D283N	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.D283N|GRIN1_ENST00000371553.3_Missense_Mutation_p.D304N|GRIN1_ENST00000371546.4_Missense_Mutation_p.D304N|GRIN1_ENST00000371550.4_Missense_Mutation_p.D283N|GRIN1_ENST00000350902.5_Missense_Mutation_p.D283N|GRIN1_ENST00000371555.4_Missense_Mutation_p.D304N|GRIN1_ENST00000315048.3_Missense_Mutation_p.D283N|GRIN1_ENST00000371560.3_Missense_Mutation_p.D304N	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	283					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCACATCAGCGACGCCGTGGG	0.672																																					NSCLC(113;717 1653 2089 20474 37618)	uc004clk.2		NaN																	0				skin(1)	1						c.(847-849)GAC>AAC		NMDA receptor 1 isoform NR1-3 precursor	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						29.0	31.0	30.0					9																	140051368		2197	4294	6491	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140051368G>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.847G>A	9.37:g.140051368G>A	ENSP00000360616:p.Asp283Asn					GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.D280N|GRIN1_uc004cll.2_Missense_Mutation_p.D283N|GRIN1_uc004clm.2_Missense_Mutation_p.D283N|GRIN1_uc004cln.2_Missense_Mutation_p.D301N|GRIN1_uc004clo.2_Missense_Mutation_p.D301N	p.D283N	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	6	1177	+	all_cancers(76;0.0926)		283			Extracellular (Potential).		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.847G>A	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	G	36	5.697589	0.96802	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	4.65	4.65	0.58169	Extracellular ligand-binding receptor (1);	0.052828	0.64402	D	0.000001	T	0.60919	0.2306	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.998;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.932;0.937;0.942;0.992;0.944;0.999	T	0.66814	-0.5828	10	0.87932	D	0	.	16.0697	0.80914	0.0:0.0:1.0:0.0	.	304;304;283;283;283;283	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	N	283;283;283;283;304;304;304;283;304	ENSP00000360616:D283N;ENSP00000316696:D283N;ENSP00000316915:D283N;ENSP00000360605:D283N;ENSP00000360601:D304N;ENSP00000360610:D304N;ENSP00000360608:D304N;ENSP00000360614:D283N;ENSP00000360615:D304N	ENSP00000316696:D283N	D	+	1	0	GRIN1	139171189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.047000	0.93823	2.140000	0.66376	0.491000	0.48974	GAC		0.672	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3		NM_007327		7	3	0	0	0	0.00308	0	7	3		
MRPL41	64975	broad.mit.edu	37	9	140446562	140446562	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:140446562G>A	ENST00000371443.5	+	2	817	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	10					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GCGGCGCGCTGCCTGGTCCGG	0.776																																						uc004cnh.3		NaN																	0					0						c.(28-30)TGC>TAC		mitochondrial ribosomal protein L41							10.0	12.0	11.0					9																	140446562		2169	4244	6413	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446562G>A	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.29G>A	9.37:g.140446562G>A	ENSP00000360498:p.Cys10Tyr					PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank	p.C10Y	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	159	+	all_cancers(76;0.106)		10					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.29G>A	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508437	0.27036	.	.	ENSG00000182154	ENST00000371443	.	.	.	5.03	-2.17	0.07059	.	0.316627	0.33075	U	0.005311	T	0.20740	0.0499	L	0.29908	0.895	0.09310	N	1	B	0.26547	0.152	B	0.20384	0.029	T	0.38329	-0.9666	9	0.02654	T	1	.	9.8041	0.40781	0.0:0.3521:0.3066:0.3412	.	10	Q8IXM3	RM41_HUMAN	Y	10	.	ENSP00000360498:C10Y	C	+	2	0	MRPL41	139566383	0.947000	0.32204	0.000000	0.03702	0.005000	0.04900	1.362000	0.34148	-0.837000	0.04223	-0.510000	0.04470	TGC		0.776	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1		NM_032477		7	9	0	0	0	0.006214	0	7	9		
EHMT1	79813	broad.mit.edu	37	9	140729270	140729270	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:140729270C>T	ENST00000460843.1	+	27	3789	c.3762C>T	c.(3760-3762)ttC>ttT	p.F1254F		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1254					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCAAGCTCTTCAGCTGCCGCT	0.672																																						uc011mfc.1		NaN																	0				breast(2)|pancreas(1)	3						c.(3760-3762)TTC>TTT		euchromatic histone-lysine N-methyltransferase 1							36.0	32.0	34.0					9																	140729270		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140729270C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3762C>T	9.37:g.140729270C>T						EHMT1_uc004coe.2_Silent_p.F159F	p.F1254F	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	27	3799	+	all_cancers(76;0.164)		1254					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.3762C>T	CCDS7050.2																																																																																				0.672	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2		NM_024757		14	16	0	0	0	0.00499	0	14	16		
STS	412	broad.mit.edu	37	X	7268167	7268167	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:7268167G>C	ENST00000217961.4	+	10	1837	c.1617G>C	c.(1615-1617)caG>caC	p.Q539H		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	539					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GACACACCCAGACCCTGCCAG	0.542									Ichthyosis																													uc004cry.3		NaN																	0				central_nervous_system(1)	1						c.(1615-1617)CAG>CAC		steryl-sulfatase precursor	Estrone(DB00655)						62.0	58.0	59.0					X																	7268167		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7268167G>C	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1617G>C	X.37:g.7268167G>C	ENSP00000217961:p.Gln539His						p.Q539H	NM_000351	NP_000342	P08842	STS_HUMAN			10	1862	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	539			Lumenal.		B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1617G>C	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	3.355	-0.131723	0.06753	.	.	ENSG00000101846	ENST00000217961	D	0.89939	-2.59	4.22	1.38	0.22167	Alkaline-phosphatase-like, core domain (1);	1.050650	0.07479	N	0.903535	T	0.81740	0.4886	L	0.31926	0.97	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.67317	-0.5701	10	0.52906	T	0.07	.	4.5417	0.12061	0.2866:0.1703:0.5431:0.0	.	539	P08842	STS_HUMAN	H	539	ENSP00000217961:Q539H	ENSP00000217961:Q539H	Q	+	3	2	STS	7278167	0.034000	0.19679	0.002000	0.10522	0.010000	0.07245	0.135000	0.15952	0.151000	0.19162	0.600000	0.82982	CAG		0.542	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1		NM_000351		21	14	0	0	0	0.00632	0	21	14		
TLR8	51311	broad.mit.edu	37	X	12938248	12938248	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:12938248C>G	ENST00000218032.6	+	2	1176	c.1089C>G	c.(1087-1089)ttC>ttG	p.F363L	TLR8_ENST00000311912.5_Missense_Mutation_p.F381L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	363					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CCAGAAACTTCTCTAAACTTT	0.393																																						uc004cve.2		NaN																	0				ovary(4)|lung(2)|large_intestine(1)	7						c.(1087-1089)TTC>TTG		toll-like receptor 8 precursor							81.0	85.0	83.0					X																	12938248		2196	4293	6489	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938248C>G	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1089C>G	X.37:g.12938248C>G	ENSP00000218032:p.Phe363Leu					TLR8_uc004cvd.2_Missense_Mutation_p.F381L	p.F363L	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	1157	+			363			Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.1089C>G	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304563	0.60305	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.28666	1.6;1.77	5.29	0.471	0.16752	.	0.000000	0.42821	D	0.000655	T	0.49440	0.1557	M	0.72576	2.205	0.45183	D	0.998193	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.41466	-0.9507	10	0.66056	D	0.02	.	10.2387	0.43299	0.0:0.4716:0.0:0.5284	.	363;381	Q9NR97;D1CS70	TLR8_HUMAN;.	L	363;381	ENSP00000218032:F363L;ENSP00000312082:F381L	ENSP00000218032:F363L	F	+	3	2	TLR8	12848169	0.993000	0.37304	0.005000	0.12908	0.774000	0.43823	0.459000	0.21908	-0.281000	0.09141	0.600000	0.82982	TTC		0.393	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2		NM_016610		26	43	0	0	0	0.007291	0	26	43		
TLR8	51311	broad.mit.edu	37	X	12938564	12938564	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:12938564C>G	ENST00000218032.6	+	2	1492	c.1405C>G	c.(1405-1407)Cat>Gat	p.H469D	TLR8_ENST00000311912.5_Missense_Mutation_p.H487D	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	469					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GAACTTTTATCATTTCACCCG	0.398																																						uc004cve.2		NaN																	0				ovary(4)|lung(2)|large_intestine(1)	7						c.(1405-1407)CAT>GAT		toll-like receptor 8 precursor							68.0	59.0	62.0					X																	12938564		2203	4299	6502	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938564C>G	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1405C>G	X.37:g.12938564C>G	ENSP00000218032:p.His469Asp					TLR8_uc004cvd.2_Missense_Mutation_p.H487D	p.H469D	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	1473	+			469			Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.1405C>G	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	8.494	0.862684	0.17178	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.50277	0.75;0.75	5.97	5.97	0.96955	.	0.000000	0.42053	D	0.000774	T	0.49779	0.1577	L	0.28344	0.845	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.943	T	0.45687	-0.9244	10	0.33940	T	0.23	.	8.5847	0.33651	0.1525:0.7676:0.0:0.08	.	469;487	Q9NR97;D1CS70	TLR8_HUMAN;.	D	469;487	ENSP00000218032:H469D;ENSP00000312082:H487D	ENSP00000218032:H469D	H	+	1	0	TLR8	12848485	0.158000	0.22850	0.903000	0.35520	0.133000	0.20885	1.765000	0.38481	2.532000	0.85374	0.600000	0.82982	CAT		0.398	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2		NM_016610		22	38	0	0	0	0.008361	0	22	38		
FIGF	2277	broad.mit.edu	37	X	15371214	15371214	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:15371214C>T	ENST00000297904.3	-	5	1147	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	240	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					AGTGGATTTTCCTCCTGCAAA	0.353																																						uc004cwt.1		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(718-720)GAA>AAA		vascular endothelial growth factor D							105.0	91.0	96.0					X																	15371214		2203	4299	6502	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15371214C>T	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.718G>A	X.37:g.15371214C>T	ENSP00000297904:p.Glu240Lys						p.E240K	NM_004469	NP_004460	O43915	VEGFD_HUMAN			5	1227	-	Hepatocellular(33;0.183)		240			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.		B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.718G>A	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300115	0.60195	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000016	T	0.46580	0.1400	M	0.62723	1.935	0.39774	D	0.972207	P	0.45126	0.851	B	0.33339	0.162	T	0.57785	-0.7751	9	0.56958	D	0.05	-31.7366	13.7058	0.62639	0.0:0.8373:0.1627:0.0	.	240	O43915	VEGFD_HUMAN	K	240	.	ENSP00000297904:E240K	E	-	1	0	FIGF	15281135	0.917000	0.31117	0.986000	0.45419	0.966000	0.64601	1.699000	0.37804	2.330000	0.79161	0.600000	0.82982	GAA		0.353	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1		NM_004469		14	35	0	0	0	0.008871	0	14	35		
CXorf23	256643	broad.mit.edu	37	X	19973576	19973576	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:19973576C>G	ENST00000379682.4	-	4	1416	c.1383G>C	c.(1381-1383)caG>caC	p.Q461H	CXorf23_ENST00000356980.3_Missense_Mutation_p.Q461H|CXorf23_ENST00000379687.3_Missense_Mutation_p.Q461H			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	461						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TTTCAGTATTCTGAGTTGAGT	0.378																																						uc004czp.2		NaN																	0				lung(1)|skin(1)	2						c.(1381-1383)CAG>CAC		hypothetical protein LOC256643							161.0	137.0	145.0					X																	19973576		2203	4300	6503	SO:0001583	missense	256643					mitochondrion		g.chrX:19973576C>G	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1383G>C	X.37:g.19973576C>G	ENSP00000369004:p.Gln461His					CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.Q26H|CXorf23_uc004czo.2_Missense_Mutation_p.Q411H	p.Q461H	NM_198279	NP_938020	A2AJT9	CX023_HUMAN			4	1383	-			461					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.1383G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.75|17.75	3.465605|3.465605	0.63513|0.63513	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000340625|ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	.|T;T;T	.|0.19105	.|2.17;2.17;2.17	5.88|5.88	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	T|T	0.44095|0.44095	0.1277|0.1277	M|M	0.73962|0.73962	2.25|2.25	0.28397|0.28397	N|N	0.918818|0.918818	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.73380	.|0.98;0.971;0.971	T|T	0.33701|0.33701	-0.9858|-0.9858	5|8	.|.	.|.	.|.	.|.	9.9874|9.9874	0.41849|0.41849	0.0:0.8381:0.0:0.1619|0.0:0.8381:0.0:0.1619	.|.	.|172;461;461	.|B7ZLM9;A2AJT9-2;A2AJT9	.|.;.;CX023_HUMAN	Q|H	70|461;461;461;349	.|ENSP00000369009:Q461H;ENSP00000369004:Q461H;ENSP00000349470:Q461H	.|.	E|Q	-|-	1|3	0|2	CXorf23|CXorf23	19883497|19883497	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.440000|0.440000	0.21592|0.21592	2.474000|2.474000	0.83562|0.83562	0.600000|0.600000	0.82982|0.82982	GAA|CAG		0.378	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2		NM_198279		12	29	0	0	0	0.003163	0	12	29		
MAGEB1	4112	broad.mit.edu	37	X	30269617	30269617	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:30269617C>G	ENST00000378981.3	+	4	1328	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	MAGEB1_ENST00000397550.1_Missense_Mutation_p.S336C|MAGEB1_ENST00000397548.2_Missense_Mutation_p.S336C	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	336										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AGAGCGCGTTCTAGAGCCCCA	0.507																																						uc004dcc.2		NaN																	0					0						c.(1006-1008)TCT>TGT		melanoma antigen family B, 1							68.0	63.0	65.0					X																	30269617		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269617C>G		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.1007C>G	X.37:g.30269617C>G	ENSP00000368264:p.Ser336Cys					MAGEB1_uc004dcd.2_Missense_Mutation_p.S336C|MAGEB1_uc004dce.2_Missense_Mutation_p.S336C	p.S336C	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	1327	+			336					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.1007C>G	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216358	0.22373	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01963	4.53;4.53;4.53	3.56	1.75	0.24633	.	.	.	.	.	T	0.04543	0.0124	M	0.66506	2.035	0.09310	N	1	D	0.63046	0.992	P	0.48368	0.575	T	0.37244	-0.9714	9	0.62326	D	0.03	.	5.5546	0.17109	0.0:0.7308:0.0:0.2692	.	336	P43366	MAGB1_HUMAN	C	336	ENSP00000368264:S336C;ENSP00000380683:S336C;ENSP00000380681:S336C	ENSP00000368264:S336C	S	+	2	0	MAGEB1	30179538	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.134000	0.10436	0.327000	0.23409	0.513000	0.50165	TCT		0.507	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1		NM_002363		24	14	0	0	0	0.00632	0	24	14		
PRICKLE3	4007	broad.mit.edu	37	X	49040229	49040229	+	Silent	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:49040229C>A	ENST00000376317.3	-	3	364	c.270G>T	c.(268-270)tcG>tcT	p.S90S	PRICKLE3_ENST00000538114.1_Silent_p.S90S|PRICKLE3_ENST00000376310.3_Silent_p.S90S|PRICKLE3_ENST00000540849.1_Silent_p.S22S|PRICKLE3_ENST00000536904.1_Silent_p.S22S	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	90	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CATACTCCTCCGATGCACAGC	0.617																																						uc004dmy.1		NaN																	0				breast(1)	1						c.(268-270)TCG>TCT		LIM domain only 6							65.0	49.0	54.0					X																	49040229		2203	4300	6503	SO:0001819	synonymous_variant	4007						protein binding|zinc ion binding	g.chrX:49040229C>A	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.270G>T	X.37:g.49040229C>A						PRICKLE3_uc011mmv.1_Silent_p.S22S|PRICKLE3_uc011mmw.1_Silent_p.S22S|PRICKLE3_uc011mmx.1_Silent_p.S90S|PRICKLE3_uc011mmy.1_Silent_p.S90S	p.S90S	NM_006150	NP_006141	O43900	PRIC3_HUMAN			3	296	-			90			PET.		B7Z8F2|O76007|Q53XR5	Silent	SNP	ENST00000376317.3	37	c.270G>T	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	C	9.621	1.133761	0.21123	.	.	ENSG00000012211	ENST00000453382;ENST00000432913	.	.	.	4.25	-8.5	0.00927	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7027	6.159	0.20354	0.317:0.4495:0.0:0.2336	.	.	.	.	X	103;101	.	.	G	-	1	0	PRICKLE3	48927173	0.000000	0.05858	0.670000	0.29842	0.966000	0.64601	-3.470000	0.00460	-2.687000	0.00405	-0.395000	0.06472	GGA		0.617	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1		NM_006150		23	10	1	0	4.74835e-14	0.010818	5.21335e-14	23	10		
PRICKLE3	4007	broad.mit.edu	37	X	49040246	49040246	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:49040246C>G	ENST00000376317.3	-	3	347	c.253G>C	c.(253-255)Gac>Cac	p.D85H	PRICKLE3_ENST00000538114.1_Missense_Mutation_p.D85H|PRICKLE3_ENST00000376310.3_Missense_Mutation_p.D85H|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.D17H|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.D17H	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	85	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CAGCCTGAGTCGTCGTCGGAG	0.642																																						uc004dmy.1		NaN																	0				breast(1)	1						c.(253-255)GAC>CAC		LIM domain only 6							74.0	54.0	61.0					X																	49040246		2203	4300	6503	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49040246C>G	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.253G>C	X.37:g.49040246C>G	ENSP00000365494:p.Asp85His					PRICKLE3_uc011mmv.1_Missense_Mutation_p.D17H|PRICKLE3_uc011mmw.1_Missense_Mutation_p.D17H|PRICKLE3_uc011mmx.1_Missense_Mutation_p.D85H|PRICKLE3_uc011mmy.1_Missense_Mutation_p.D85H	p.D85H	NM_006150	NP_006141	O43900	PRIC3_HUMAN			3	279	-			85			PET.		B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.253G>C	CCDS14320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.13|18.13	3.554365|3.554365	0.65425|0.65425	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114;ENST00000376310;ENST00000417014|ENST00000453382;ENST00000432913	D;D;D;D;D;D|.	0.89681|.	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55|.	4.25|4.25	4.25|4.25	0.50352|0.50352	PET domain (2);|.	.|.	.|.	.|.	.|.	D|D	0.83903|0.83903	0.5355|0.5355	M|M	0.92077|0.92077	3.27|3.27	0.50813|0.50813	D|D	0.999893|0.999893	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.994;0.997;0.999;0.997|.	D|D	0.88089|0.88089	0.2812|0.2812	9|5	0.56958|.	D|.	0.05|.	-0.2507|-0.2507	13.8684|13.8684	0.63603|0.63603	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	85;85;17;85|.	B2RBS3;B7Z6S4;B7Z8F2;O43900|.	.;.;.;PRIC3_HUMAN|.	H|P	85;17;17;85;85;85|97;95	ENSP00000365494:D85H;ENSP00000441385:D17H;ENSP00000446051:D17H;ENSP00000441743:D85H;ENSP00000365487:D85H;ENSP00000401337:D85H|.	ENSP00000365487:D85H|.	D|R	-|-	1|2	0|0	PRICKLE3|PRICKLE3	48927190|48927190	1.000000|1.000000	0.71417|0.71417	0.841000|0.841000	0.33234|0.33234	0.593000|0.593000	0.36681|0.36681	5.966000|5.966000	0.70395|0.70395	2.061000|2.061000	0.61500|0.61500	0.529000|0.529000	0.55759|0.55759	GAC|CGA		0.642	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1		NM_006150		30	15	0	0	0	0.00623	0	30	15		
FAM199X	139231	broad.mit.edu	37	X	103411483	103411483	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:103411483C>T	ENST00000493442.1	+	1	183	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	6										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GACGAGGCCTCGGCCATCACT	0.701																																						uc004elw.2		NaN																	0				ovary(1)	1						c.(16-18)TCG>TTG		hypothetical protein LOC139231							19.0	19.0	19.0					X																	103411483		2201	4292	6493	SO:0001583	missense	139231							g.chrX:103411483C>T	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.17C>T	X.37:g.103411483C>T	ENSP00000417581:p.Ser6Leu						p.S6L	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN			1	183	+			6					Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.17C>T	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767356	0.49574	.	.	ENSG00000123575	ENST00000493442	.	.	.	3.27	3.27	0.37495	.	0.156225	0.52532	D	0.000064	T	0.19685	0.0473	N	0.08118	0	0.30849	N	0.734825	B	0.13594	0.008	B	0.04013	0.001	T	0.12502	-1.0545	8	.	.	.	-4.144	9.1965	0.37231	0.0:1.0:0.0:0.0	.	6	Q6PEV8	F199X_HUMAN	L	6	.	.	S	+	2	0	FAM199X	103298139	0.980000	0.34600	1.000000	0.80357	0.761000	0.43186	3.160000	0.50739	1.906000	0.55180	0.429000	0.28392	TCG		0.701	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1		NM_207318		5	1	0	0	0	0.001168	0	5	1		
RGAG1	57529	broad.mit.edu	37	X	109695851	109695851	+	Missense_Mutation	SNP	C	C	T	rs148619359		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:109695851C>T	ENST00000465301.2	+	3	2252	c.2006C>T	c.(2005-2007)tCg>tTg	p.S669L	RGAG1_ENST00000540313.1_Missense_Mutation_p.S669L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	669										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TTGTCTGCATCGCTAATGAGA	0.512																																						uc004eor.1		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2005-2007)TCG>TTG		retrotransposon gag domain containing 1		C	LEU/SER	3,3832		0,3,1629,571	108.0	90.0	96.0		2006	-1.7	0.0	X	dbSNP_134	96	0,6728		0,0,2428,1872	yes	missense	RGAG1	NM_020769.2	145	0,3,4057,2443	TT,TC,CC,C		0.0,0.0782,0.0284	benign	669/1389	109695851	3,10560	2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695851C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2006C>T	X.37:g.109695851C>T	ENSP00000419786:p.Ser669Leu					RGAG1_uc011msr.1_Missense_Mutation_p.S669L	p.S669L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	2252	+			669					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.2006C>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	c	1.623	-0.520944	0.04171	7.82E-4	0.0	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.39787	1.06;1.06	4.35	-1.7	0.08159	.	0.947525	0.08560	N	0.927688	T	0.12092	0.0294	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	9	.	.	.	0.4373	6.2144	0.20648	0.276:0.5679:0.0:0.1561	.	669	Q8NET4	RGAG1_HUMAN	L	669	ENSP00000419786:S669L;ENSP00000441452:S669L	.	S	+	2	0	RGAG1	109582507	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.228000	0.09114	-0.475000	0.06852	-1.193000	0.01689	TCG		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2		NM_020769		13	32	0	0	0	0.00245	0	13	32		
TMEM255A	55026	broad.mit.edu	37	X	119402108	119402108	+	Silent	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:119402108A>G	ENST00000309720.5	-	9	1005	c.882T>C	c.(880-882)taT>taC	p.Y294Y	TMEM255A_ENST00000371369.4_Silent_p.Y270Y|TMEM255A_ENST00000440464.1_Silent_p.Y186Y|TMEM255A_ENST00000371352.1_Silent_p.Y130Y	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	294	Pro-rich.					integral component of membrane (GO:0016021)											CCTGAAAGTCATAAGCAGAAT	0.413																																						uc004eso.3		NaN																	0				lung(1)|breast(1)	2						c.(880-882)TAT>TAC		hypothetical protein LOC55026 isoform 1							190.0	167.0	175.0					X																	119402108		2203	4300	6503	SO:0001819	synonymous_variant	55026					integral to membrane		g.chrX:119402108A>G	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.882T>C	X.37:g.119402108A>G						FAM70A_uc004esp.3_Silent_p.Y270Y|FAM70A_uc010nqo.2_Silent_p.Y186Y	p.Y294Y	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			9	1109	-			294			Pro-rich.		A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.882T>C	CCDS14597.1																																																																																				0.413	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1		NM_017938		75	45	0	0	0	0.01441	0	75	45		
CETN2	1069	broad.mit.edu	37	X	151996453	151996453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:151996453G>A	ENST00000370277.3	-	5	517	c.451C>T	c.(451-453)Cga>Tga	p.R151*	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	151	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCATCTCGATCAGCTTCA	0.363								Direct reversal of damage;Nucleotide excision repair (NER)																														uc004fgq.2		NaN																	0					0						c.(451-453)CGA>TGA	Direct_reversal_of_damage|NER	caltractin							167.0	144.0	152.0					X																	151996453		2203	4300	6503	SO:0001587	stop_gained	1069				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chrX:151996453G>A	X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"""EF-hand domain containing"""	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.451C>T	X.37:g.151996453G>A	ENSP00000359300:p.Arg151*					CETN2_uc004fgr.2_Nonsense_Mutation_p.R80*	p.R151*	NM_004344	NP_004335	P41208	CETN2_HUMAN			5	498	-	Acute lymphoblastic leukemia(192;6.56e-05)		151			2.|EF-hand 4.		B2R4T4|Q53XW1	Nonsense_Mutation	SNP	ENST00000370277.3	37	c.451C>T	CCDS14716.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808954	0.90707	.	.	ENSG00000147400	ENST00000370277	.	.	.	6.17	4.4	0.53042	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7216	0.46044	0.0:0.139:0.7131:0.1479	.	.	.	.	X	151	.	ENSP00000359300:R151X	R	-	1	2	CETN2	151747109	1.000000	0.71417	0.626000	0.29213	0.872000	0.50106	1.261000	0.32980	0.705000	0.31890	0.600000	0.82982	CGA		0.363	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061197.1		NM_004344		22	74	0	0	0	0.007291	0	22	74		
NSDHL	50814	broad.mit.edu	37	X	152014895	152014895	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:152014895G>A	ENST00000370274.3	+	2	221	c.27G>A	c.(25-27)atG>atA	p.M9I	NSDHL_ENST00000440023.1_Missense_Mutation_p.M9I	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	9					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCGAGCCAATGAGAGACCAAG	0.408																																						uc004fgt.1		NaN																	0					0						c.(25-27)ATG>ATA		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						125.0	106.0	112.0					X																	152014895		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152014895G>A	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.27G>A	X.37:g.152014895G>A	ENSP00000359297:p.Met9Ile					NSDHL_uc004fgs.1_Missense_Mutation_p.M9I	p.M9I	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN			3	288	+	Acute lymphoblastic leukemia(192;6.56e-05)		9					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.27G>A	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	G	6.459	0.452910	0.12283	.	.	ENSG00000147383	ENST00000370274;ENST00000440023;ENST00000432467	D;D;D	0.81908	-1.53;-1.53;-1.55	5.16	4.27	0.50696	.	0.870676	0.09462	U	0.798862	T	0.65637	0.2710	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44937	-0.9295	10	0.07325	T	0.83	-2.2041	10.6343	0.45556	0.0:0.1895:0.8105:0.0	.	9	Q15738	NSDHL_HUMAN	I	9	ENSP00000359297:M9I;ENSP00000391854:M9I;ENSP00000396266:M9I	ENSP00000359297:M9I	M	+	3	0	NSDHL	151765551	0.007000	0.16637	0.001000	0.08648	0.012000	0.07955	1.748000	0.38308	0.928000	0.37168	0.600000	0.82982	ATG		0.408	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1		NM_015922		31	33	0	0	0	0.009718	0	31	33		
HCFC1	3054	broad.mit.edu	37	X	153229678	153229678	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:153229678G>C	ENST00000310441.7	-	3	1366	c.400C>G	c.(400-402)Ccg>Gcg	p.P134A	HCFC1_ENST00000369984.4_Missense_Mutation_p.P134A|HCFC1_ENST00000354233.3_Missense_Mutation_p.P134A|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	134					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGGACACGGAGGGGGCCCG	0.562																																						uc004fjp.2		NaN																	0				ovary(2)	2						c.(400-402)CCG>GCG		host cell factor 1							157.0	164.0	162.0					X																	153229678		1941	4110	6051	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153229678G>C		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.400C>G	X.37:g.153229678G>C	ENSP00000309555:p.Pro134Ala						p.P134A	NM_005334	NP_005325	P51610	HCFC1_HUMAN			3	928	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		134	P->S: Eliminates VIC formation and association with VP16. Weak association with POU2F1. Unable to associate with CREBZF and BAP1. Unable to rescue proliferation in temperature-sensitive arrested cells.		Kelch 2.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.400C>G	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835846	0.91117	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.65364	-0.15;-0.15;-0.15	5.53	5.53	0.82687	Kelch-type beta propeller (1);	0.053260	0.85682	D	0.000000	D	0.84133	0.5405	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87781	0.2612	10	0.62326	D	0.03	.	17.1457	0.86766	0.0:0.0:1.0:0.0	.	134	P51610	HCFC1_HUMAN	A	134	ENSP00000309555:P134A;ENSP00000359001:P134A;ENSP00000346174:P134A	ENSP00000309555:P134A	P	-	1	0	HCFC1	152882872	1.000000	0.71417	0.976000	0.42696	0.959000	0.62525	9.438000	0.97539	2.315000	0.78130	0.422000	0.28245	CCG		0.562	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4		NM_005334		56	38	0	0	0	0.01441	0	56	38		
USP9Y	8287	broad.mit.edu	37	Y	14898191	14898191	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrY:14898191G>T	ENST00000338981.3	+	23	4151	c.3206G>T	c.(3205-3207)gGa>gTa	p.G1069V	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1069					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCAAAACTTGGAGAAGGCAAA	0.398																																						uc004fst.1		NaN																	0					0						c.(3205-3207)GGA>GTA		ubiquitin specific protease 9, Y-linked																																				SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14898191G>T	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.3206G>T	Y.37:g.14898191G>T	ENSP00000342812:p.Gly1069Val					USP9Y_uc010nwu.1_RNA	p.G1069V	NM_004654	NP_004645	O00507	USP9Y_HUMAN			23	4151	+			1069					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.3206G>T	CCDS14781.1																																																																																				0.398	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2		NM_004654		14	51	1	0	1.02788e-11	0.00499	1.10564e-11	14	51		
RPTN	126638	broad.mit.edu	37	1	152128385	152128388	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:152128385_152128388delTGTC	ENST00000316073.3	-	3	1251_1254	c.1187_1190delGACA	c.(1186-1191)agacaafs	p.RQ396fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	396	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTTTGGTCTTGTCTGTCTGTCTG	0.505																																						uc001ezs.1		NaN																	0					0						c.(1186-1191)AGACAAfs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128385_152128388delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1187_1190delGACA	1.37:g.152128393_152128396delTGTC	ENSP00000317895:p.Arg396fs						p.R396fs	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1252_1255	-			396_397			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1187_1190delGACA	CCDS41397.1																																																																																				0.505	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1		XM_371312		8	1501	NaN	NaN	NaN	NaN	NaN	8	1501	---	---
SUPT5H	6829	broad.mit.edu	37	19	39962359	39962359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:39962359delG	ENST00000599117.1	+	21	2306	c.1939delG	c.(1939-1941)gggfs	p.G648fs	SUPT5H_ENST00000359191.6_Frame_Shift_Del_p.G644fs|SUPT5H_ENST00000598725.1_Frame_Shift_Del_p.G648fs|SUPT5H_ENST00000432763.2_Frame_Shift_Del_p.G648fs|SUPT5H_ENST00000402194.2_Frame_Shift_Del_p.G644fs			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	648					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTGCTGGCTGGGGGCTCAAA	0.587																																						uc002olo.3		NaN																	0				ovary(3)|pancreas(1)	4						c.(1939-1941)GGGfs		suppressor of Ty 5 homolog isoform a							36.0	39.0	38.0					19																	39962359		2203	4299	6502	SO:0001589	frameshift_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39962359delG	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1939delG	19.37:g.39962359delG	ENSP00000470252:p.Gly648fs					SUPT5H_uc002olp.3_Frame_Shift_Del_p.G647fs|SUPT5H_uc002olq.3_Frame_Shift_Del_p.G643fs|SUPT5H_uc002oln.3_Frame_Shift_Del_p.G647fs|SUPT5H_uc002olr.3_Frame_Shift_Del_p.G647fs|SUPT5H_uc002ols.1_Frame_Shift_Del_p.G270fs|SUPT5H_uc010egp.1_Frame_Shift_Del_p.G13fs	p.G647fs	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		20	2118	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		647					O43279|Q59G52|Q99639	Frame_Shift_Del	DEL	ENST00000599117.1	37	c.1939delG	CCDS12536.1																																																																																				0.587	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1		NM_003169		15	40	NaN	NaN	NaN	NaN	NaN	15	40	---	---
USP4	7375	broad.mit.edu	37	3	49362440	49362441	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49362440_49362441insA	ENST00000265560.4	-	5	565_566	c.519_520insT	c.(517-522)ttcaacfs	p.N174fs	USP4_ENST00000416417.1_Frame_Shift_Ins_p.N174fs|USP4_ENST00000351842.4_Frame_Shift_Ins_p.N174fs|USP4_ENST00000415188.1_Frame_Shift_Ins_p.N174fs	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	174	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.|Ubiquitin-like 1.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCAGGGATGTTGAATAGCTTCC	0.5																																						uc003cwq.2		NaN																	0				ovary(2)|urinary_tract(1)|lung(1)	4						c.(517-522)TTCAACfs		ubiquitin specific protease 4 isoform a																																				SO:0001589	frameshift_variant	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49362440_49362441insA	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.519_520insT	3.37:g.49362440_49362441insA	ENSP00000265560:p.Asn174fs					USP4_uc003cwr.2_Frame_Shift_Ins_p.F173fs	p.F173fs	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	5	598_599	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	173_174					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Frame_Shift_Ins	INS	ENST00000265560.4	37	c.519_520insT	CCDS2793.1																																																																																				0.500	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1		NM_199443		52	162	NaN	NaN	NaN	NaN	NaN	52	162	---	---
PAXIP1	22976	broad.mit.edu	37	7	154760267	154760269	+	In_Frame_Del	DEL	CTG	CTG	-	rs141168451		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:154760267_154760269delCTG	ENST00000404141.1	-	7	1796_1798	c.1642_1644delCAG	c.(1642-1644)cagdel	p.Q548del	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_In_Frame_Del_p.Q548del			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	548	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GACTTTGCATctgctgctgctgc	0.626																																						uc003wlp.2		NaN																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(1642-1644)CAGdel		PAX interacting protein 1				135,3467		9,117,1675						-0.6	0.0		dbSNP_134	18	258,6344		17,224,3060	no	coding	PAXIP1	NM_007349.3		26,341,4735	A1A1,A1R,RR		3.9079,3.7479,3.8514				393,9811				SO:0001651	inframe_deletion	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154760267_154760269delCTG	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1642_1644delCAG	7.37:g.154760276_154760278delCTG	ENSP00000384048:p.Gln548del					PAXIP1_uc003wlq.1_In_Frame_Del_p.Q514del|PAXIP1_uc011kvs.1_In_Frame_Del_p.Q512del|PAXIP1_uc003wlr.1_In_Frame_Del_p.Q457del	p.Q548del	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	7	1685_1687	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	548			Gln-rich.		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	In_Frame_Del	DEL	ENST00000404141.1	37	c.1642_1644delCAG	CCDS47753.1																																																																																				0.626	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1		NM_007349		4	4	NaN	NaN	NaN	NaN	NaN	4	4	---	---
